Study Guide To DSM-5® Laura Weiss Roberts
Study Guide To DSM-5® Laura Weiss Roberts
Study Guide To DSM-5® Laura Weiss Roberts
to
DSM-5®
STUDY GUIDE
to
DSM-5®
Edited by
PART I: Foundations
1 Diagnosis and DSM-5
Laura Weiss Roberts, M.D., M.A.
Mickey Trockel, M.D., Ph.D.
2 Arriving at a Diagnosis:
The Role of the Clinical Interview
John H. Coverdale, M.D., M.Ed.
Alan K. Louie, M.D.
Laura Weiss Roberts, M.D., M.A.
7 Depressive Disorders
Bruce A. Arnow, Ph.D.
Tonita E. Wroolie, Ph.D.
Sanno E. Zack, Ph.D.
8 Anxiety Disorders
Alan K. Louie, M.D.
Laura Weiss Roberts, M.D., M.A.
11 Dissociative Disorders
David Spiegel, M.D.
Daphne Simeon, M.D.
14 Elimination Disorders
Jennifer Derenne, M.D.
Kathleen Kara Fitzpatrick, Ph.D.
15 Sleep-Wake Disorders
Michelle Primeau, M.D.
Ruth O’Hara, Ph.D.
16 Sexual Dysfunctions
Richard Balon, M.D.
17 Gender Dysphoria
Carlos C. Greaves, M.D.
Daryn Reicherter, M.D.
20 Neurocognitive Disorders
Brian Yochim, Ph.D.
Maya Yutsis, Ph.D.
Allyson C. Rosen, Ph.D.
Jerome Yesavage, M.D.
21 Personality Disorders
Daryn Reicherter, M.D.
Laura Weiss Roberts, M.D., M.A.
22 Paraphilic Disorders
Richard Balon, M.D.
Questions
Answers
Index
Contributors
Elias Aboujaoude, M.D., M.A.
Clinical Professor of Psychiatry and Behavioral Sciences, Stanford
University School of Medicine, Stanford, California
Disclosures of Interest
The contributors have declared all forms of support received within the 12
months prior to manuscript submission that may represent a competing
interest in relation to their work published in this volume, as follows:
Foundations
Learning Objectives
• Describe the role, value, and limitations of DSM diagnostic criteria.
• Describe the role of the clinical interview in arriving at a psychiatric
diagnosis conforming to DSM-5 criteria.
• Explain the biopsychosocial model and its relevance to the approach of
DSM-5.
• Describe the role of psychiatric diagnoses in clinical communication.
• List patient benefits and burdens associated with receiving a
psychiatric diagnosis.
• Characterize different approaches to diagnostic classification.
1
Diagnosis as a Hypothesis
The DSM-5 diagnostic criteria allow clinicians to form hypotheses about
their patients’ mental health difficulties that imply commonality with other
patients who present with similar symptom clusters and patterns. When the
hypothesis is well founded, a knowledge base derived from the clinical
history of other patients with the same diagnosis is available as a basis of
understanding to build on in the process of evaluating data gathered through
further diagnostic inquiry and in making treatment decisions.
When clinicians apply systematic reasoning to the clinical evaluation
process, they use clinical data to formulate and test diagnostic hypotheses.
Early conceptualization of diagnostic reasoning posited that establishing a
clinical diagnosis involves hypothesis testing, in which a limited set of
hypotheses formulated early in the process guides further data gathering
(Elstein et al. 1978). Health education methods often focus on this process,
teaching clinicians to use initial presenting clinical data to create what is
called a differential diagnosis—a short list of plausible diagnosis
hypotheses. Clinicians are taught to use the differential diagnosis to focus
additional data gathering and to use evolving clinical information to narrow
and refine the diagnostic possibilities that may be at work in the situation.
More recent application of evidence-based medicine adds precision to the
process by employing decision theory, in which new data are used to adjust
estimated probability of diagnoses (Elstein and Schwartz 2002).
For routine medical cases, careful hypothesis testing may progress to
more efficient pattern recognition. More advanced clinicians will find it
necessary to engage in deductive reasoning–driven hypothesis testing only
when confronted with the most complex cases (Elstein and Schwartz 2002;
Moayyeri et al. 2011). Although expert psychiatric clinicians are likely to
become more efficient at DSM-5–based pattern recognition with time, there
is unique utility of careful hypothesis testing during the process of
psychiatric diagnosis, even for experienced clinicians. DSM-5 criteria are
based almost entirely on latent (unobservable) variables. The necessary
reliance on latent variables reduces reliability and validity in any diagnostic
process and is the bane of current psychiatric clinical practice. Perhaps to a
higher degree than in most other medical fields, the adage “knowing is the
enemy of learning” rings true in psychiatric diagnosis. Overreliance on
pattern recognition to establish an efficient diagnosis dismisses the
opportunity to discover an alternative and more accurate explanation of a
patient’s problem.
Consider a 30-year-old woman with depressed mood, poor
concentration, low energy, weight gain, and psychomotor slowing over the
last 2 months. Her pattern “looks” like a major depressive episode, and this
diagnosis may, in the end, be accurate. However, if the clinician looks no
further, he may miss an underlying, and correctable, hypothyroid problem
responsible for the patient’s symptoms. The correct diagnosis would be
readily discoverable through careful deductive reasoning to evaluate a
limited set of plausible diagnoses. This example serves as a reminder of the
importance of professional judgment in the use of DSM-5 criteria. The
DSM-5 diagnostic system—which, of necessity, is oriented toward patterns
of observations, findings, and symptoms rather than causal explanations—if
applied without care will give rise to superficial, premature, and incorrect
diagnostic conclusions. To fulfill professional responsibilities with patients,
clinicians must engage in careful consideration of reasonable alternative
diagnoses and must rigorously test diagnostic hypotheses against available
data, even in apparently simple and straightforward cases.
Questions to Consider
• In thinking about this case, what are your thoughts regarding the
tentative diagnosis of schizophrenia that the psychiatrist shared with
Ms. Evans?
• Should the psychiatrist have made a tentative diagnosis?
• Should the psychiatrist have shared this information with Ms. Evans at
this time?
• Will Ms. Evans’s future situation, such as clinical care, military status,
employment, and family and personal life, be affected significantly by
this diagnostic hypothesis?
• What substantiation may be possible with additional clinical data?
• What are the benefits and burdens that go with this diagnostic
hypothesis?
The time invested in refining a diagnostic hypothesis pays dividends in
the process of formulating, implementing, and evaluating a treatment plan.
An accurate psychiatric diagnosis opens the door to a growing body of
evidence-based treatments and slowly emerging adaptive treatment
algorithms (Lavori and Dawson 2008) that will help mental health
clinicians tailor treatment to the presentation and initial treatment response
of individual patients. A hypothesized diagnosis will also help clinicians
evaluate observed treatment response against expected treatment response
characterized in available literature on the basis of other patients with the
same diagnosis. This comparison may also provide additional data that help
clinicians to further refine the dynamic diagnostic hypothesis-making
process. At several points during the course of clinical care, open discussion
of the working diagnostic hypothesis with the patient can facilitate
collaborative, ethically sound, treatment decision-making. When the
clinician and the patient are collaboratively working together to make
treatment decisions, the likelihood that treatment plans will be successfully
implemented increases.
Questions to Consider
Diagnosis as a Risk
In addition to the balance of psychosocial benefits and risks of psychiatric
diagnoses, most diagnoses lead to a treatment plan that conveys probable
benefits and risks. An appropriate view of benefits and risks inherent in the
diagnostic process is further complicated by the reality that psychiatric
diagnosis is not a process with perfect precision. Even when the brightest
clinicians have the best training and the best intentions, their diagnostic
conclusions will not be perfectly accurate. As summarized in Table 1–1,
evaluation of the balance of benefits and risks associated with receiving a
psychiatric diagnosis (and associated treatment where indicated) requires
consideration of diagnoses that are accurate (true positive and true negative)
and inaccurate (false positive and false negative).
1. These patients are more likely than patients without their diagnosis to be
similar to the people who participated in clinical trials targeting
individuals who have the same diagnosis.
2. The clinician caring for these patients may be more effective in deriving
treatment solutions on the basis of his or her own clinical experience of
what has worked with previous patients who had the same diagnosis.
Diagnosis as a Gift
Most patients would like their clinicians’ help with two things: 1) an
understanding of the symptoms they are experiencing (Salmon et al. 2004)
and 2) a solution to alleviate these symptoms. A diagnosis can be a gift that
helps meet both of these needs.
An accurately rendered diagnosis clearly explored with a patient can
help the patient feel that the clinician understands the patient’s suffering and
that the clinician can draw from a clinical knowledge base derived from
working with other patients who have suffered the same problem and from
the experience of colleagues working with similar patients. Receiving a
medical diagnosis can begin to give patients a sense of clarity, affirmation,
or legitimacy in the experience of their suffering. A clinical interview
conducted with empathy and kindness—even by a novice or a learner in a
clinical situation—is sufficient to help a patient feel that the clinician
understands what suffering the patient is experiencing. Hearing a
professional diagnosis helps a patient feel that the clinician understands why
the patient is suffering. This beneficial psychological effect may exist even
though the DSM-based diagnoses are based much more on useful
descriptive constructs than on validated biological models of pathology.
The experience of receiving a diagnosis may be particularly validating to
psychiatric patients with emotional suffering that is mostly unobservable to
or misunderstood by others. A diagnostic explanation can help a patient feel
more understood and less harshly judged. A patient who suffered severe
child abuse and has regular disturbing nightmares and a paralyzing fear of
intimacy is likely to feel more understood and less judged after learning that
many other people who have been exposed to similar traumatic experiences
have reacted in the same way. The same patient may benefit from knowing
that this reaction is officially termed posttraumatic stress disorder and is
well recognized and studied. For this patient, the gift of diagnosis also
extends hope of recovery and the restoration of a better life. For many
individuals, a diagnosis may bring some, if somewhat paradoxical, comfort.
These include the person with an eating disorder who has previously been
told to “just eat something”; the person with social phobia who has been
told to “just get out of the house”; or the profoundly depressed person who
is unable to muster enough energy and motivation to get out of bed—and
who has been told to “just snap out of it.”
A good clinician will convey the gift of a diagnosis wrapped in
optimism and founded in a growing body of literature describing treatment
strategies proven successful for patients with the same diagnosis. For
example, a severely depressed patient and her clinician will then have the
option of selecting a best-fit treatment strategy that includes evidence-based
psychotherapy, an antidepressant medication, or both. A patient with
posttraumatic stress disorder and his clinician can also begin to map out an
evidence-based treatment plan that, although challenging to implement
when appropriately including a strategy such as cognitive processing
therapy (Resick and Schnicke 1992) or prolonged exposure therapy (Foa et
al. 1999), offers evidence-based fuel for optimistic hope of significant—
even life-trajectory-changing—recovery. Patients with some anxiety
disorders, including debilitating panic disorder, may be overjoyed to learn
that their symptoms can be alleviated, in many cases, with only 4–8 weeks
of appropriate treatment (Gould et al. 1995). There are, however, many
patients who present with dire need for relief from mental health problems
for which decades of research have rendered less optimal solutions.
Questions to Consider
Self-Assessment
Questions to Discuss With Colleagues and
Mentors
1. Have you ever made a diagnosis with unexpected results?
2. Have you ever delayed a diagnosis you wish you had made more
rapidly?
3. When is rendering a psychiatric diagnosis most worrisome in your
experience? Why?
4. Are there clinical circumstances in which you have found it better not to
share your diagnostic hypothesis with your patient? If yes, when?
Short-Answer Questions
1. To what degree is the DSM-5 diagnostic system based on neuroscience
discovery?
2. How do psychiatric diagnoses facilitate clinical communication?
3. What are some significant benefits to patients associated with an
accurate psychiatric diagnosis?
Answers
1. The DSM-5 diagnostic system sought to incorporate recent best-
evidence and, where possible and appropriate, neuroscientific
findings. The DSM-5 is a phenomenologically oriented diagnostic
system rather than an etiologically governed diagnostic approach.
2. In developing and refining a diagnostic hypothesis, the clinician must
engage in a careful dialogue with the patient. The astute clinician will
seek to clarify the patient’s personal history, the symptoms
experienced, the impact of living with an illness process, relevant
background, and the concerns of the patient. The dialogue may further
allow the clinician to reconcile any incongruities in the patient’s
presentation and narrative, prior documentation, and collateral
medical and psychosocial information.
3. Placing the experience of the patient into a diagnostic framework can
help the patient to understand features of the illness process and
anticipated outcomes. Receiving a diagnosis paradoxically can be
reassuring and provide validation for patients who may feel that their
symptoms are poorly understood by others.
Recommended Readings
Corrigan PW (ed): On the Stigma of Mental Illness: Practical Strategies for
Research and Social Change. Washington, DC, American Psychological
Association, 2005
Frances AJ, Widiger T: Psychiatric diagnosis: lessons from the DSM-IV
past and cautions for the DSM-5 future. Annu Rev Clin Psychol 8:109–
130, 2012
Kraemer HC: Validity and psychiatric diagnoses. JAMA Psychiatry
70:138–139, 2013
Regier DA, Narrow WE, Clarke DE, et al: DSM-5 field trials in the United
States and Canada, part II: test-retest reliability of selected categorical
diagnoses. Am J Psychiatry 170:59–70, 2013
References
Corrigan PW, Watson AC: The paradox of self-stigma and mental illness. Clin Psychol 9:35–53,
2002
Crumlish N, Whitty P, Kamali M, et al: Early insight predicts depression and attempted suicide after
4 years in first-episode schizophrenia and schizophreniform disorder. Acta Psychiatr Scand
112:449–455, 2005
Dinos S, Stevens S, Serfaty M, et al: Stigma: the feelings and experiences of 46 people with mental
illness. Qualitative study. Br J Psychiatry 184:176–181, 2004
Elstein AS, Schwartz A: Clinical problem solving and diagnostic decision making: selective review
of the cognitive literature. BMJ 324:729–732, 2002
Elstein AS, Shulman LS, Sprafka SA: Medical Problem Solving: An Analysis of Clinical Reasoning.
Cambridge, MA, Harvard University Press, 1978
Foa EB, Dancu CV, Hembree EA, et al: A comparison of exposure therapy, stress inoculation
training, and their combination for reducing posttraumatic stress disorder in female assault
victims. J Consult Clin Psychol 67:194–200, 1999
Frances AJ, Widiger T: Psychiatric diagnosis: lessons from the DSM-IV past and cautions for the
DSM-5 future. Annu Rev Clin Psychol 8:109–130, 2012
Gould RA, Ott MW, Pollack MH: A meta-analysis of treatment outcome for panic disorder. Clin
Psychol Rev 15:819–844, 1995
Insel TR: Translating scientific opportunity into public health impact: a strategic plan for research on
mental illness. Arch Gen Psychiatry 66:128–133, 2009
Kao YC, Liu YP: Suicidal behavior and insight into illness among patients with schizophrenia
spectrum disorders. Psychiatr Q 82:207–220, 2011
Lavori PW, Dawson R: Adaptive treatment strategies in chronic disease. Annu Rev Med 59:443–453,
2008
Moayyeri A, Soltani A, Moosapour H, et al: Evidence-based history taking under “time constraint.” J
Res Med Sci 16:559–564, 2011
Paneth N: Assessing the contributions of John Snow to epidemiology: 150 years after removal of the
broad street pump handle. Epidemiology 15:514–516, 2004
Phelan JC, Link BG, Stueve A, et al: Public conceptions of mental illness in 1950 and 1996: what is
mental illness and is it to be feared? J Health Soc Behav 41:188–207, 2000
Resick PA, Schnicke MK: Cognitive processing therapy for sexual assault victims. J Consult Clin
Psychol 60:748–756, 1992
Salmon P, Dowrick CF, Ring A, et al: Voiced but unheard agendas: qualitative analysis of the
psychosocial cues that patients with unexplained symptoms present to general practitioners. Br J
Gen Pract 54:171–176, 2004
World Health Organization: The Global Burden of Disease: 2004 Update. Geneva, World Health
Organization, 2008. Available at:
http://www.who.int/healthinfo/global_burden_disease/2004_report_update/en. Accessed
September 22, 2013.
2
Arriving at a Diagnosis
The Role of the Clinical Interview
SOCIAL CONTEXT
The practical questions of who, what, when, where, and why often address
much of the social context. The social perspective is a natural starting place
as the interview commences and as each party might wonder, “Why are we
here and what are we doing here?” Usually, each party is taking on a role
described in the society—for example, a role as a therapist, researcher,
patient, research volunteer, and inmate. Very important to the success of the
interview is whether the parties are in agreement about what these roles are
and whether each willingly accepts his or her role. These issues are best
understood, made transparent, and, if necessary, negotiated at the outset of
the interview. If the social context is not agreed upon, then the rest of the
interview is essentially going to be out of context.
PSYCHOLOGICAL CONTEXT
The social context, important as it may be, especially as a starting point, is
not the only context to consider when making diagnoses. Individual
psychology, encompassing the personal experience and background of the
individual being interviewed, greatly affects the success of the interview.
The most overt individual characteristic involves language. The interviewee
may not fluently speak the language of the interviewer or may not be able
to fully communicate in any language. Even with the assistance of a
medical translator, the interviewer may not be sure if criteria are truly met.
For instance, the DSM-5 criteria for major depressive disorder in the
English language inquire if “depressed mood” is present. Some languages
do not have words that are clearly equivalent to these English words.
Additionally, individuals raised in divergent cultures may actually
experience and manifest a symptom, such as depressed mood, variably. In
one culture, an individual may experience depressed mood as a thought
(e.g., “I think about depressing things”), whereas someone in another
culture may experience it as a bodily sensation (e.g., “I am so fatigued”).
The diagnostician has to make a judgment about how to weigh such factors
when making a diagnosis. Even when no language or cultural differences
exist, the individual context may still cause ambiguity, because everyone
has dissimilar worldviews and values. For example, many DSM-5 criteria
assess whether the individual reports being distressed by symptoms. This
assessment, however, is mitigated by what level of distress an individual
views as part of normal life, is not embarrassed to disclose, or has become
aware of in his or her life.
BIOLOGICAL CONTEXT
Now that we have touched on the social and psychological contexts, the
biological context remains. Psychiatry is a medical specialty that is
concerned, in the main, with cognitive, emotional, and behavioral disorders
and processes or conditions that are mediated by the brain. Although the
“nurture” factors—that is, the social and psychological components—are
strong determinants of a psychiatric diagnosis, the “nature” factors are also
significant, especially for certain conditions. Indeed, a diagnosis may be
understood to be a direct and inevitable result of an individual’s
fundamental biology (e.g., genetic makeup). With the realities of scientific
neglect of psychiatric disorders historically, the challenges associated with
advancing scientific understanding of multidetermined complex genetic
disorders, and the observation that the sequencing of the human genome
occurred only recently, this biological domain remains, for the most part,
unexplored.
Currently, measures of biological markers that may correlate with or
substantiate diagnoses are unavailable. Thus, we look to the future, when
such markers, perhaps involving brain imaging or genetic findings, may be
included in DSM criteria. For now, weak proxies of these measures are
elicited during an interview. For instance, an interviewer wants to know if
an interviewee has a family history of a psychiatric disorder, especially if
the disorder is thought to be highly heritable on the basis of epidemiological
data. Also, the interviewer searches for evidence of any medical disorder or
of substance or medication use that may be directly inducing symptoms of a
diagnosis.
Summary
In sum, psychiatric diagnoses occur in social, psychological, and biological
contexts, and a goal of the psychiatric interviewer is to become informed of
these contexts and to weigh them in applying diagnostic criteria and
arriving at diagnoses. As discussed earlier, the interviewer should start with
answering the questions of who, what, when, where, and why as they relate
to the interview. The balance of this chapter addresses the details of “how”
to conduct the interview and the psychiatric assessment in general.
Interested readers may also wish to refer to excellent resources on
interviewing that informed this narrative, listed in the “Recommended
Readings” section at the end of this chapter.
Psychiatric Interview
Psychiatric history taking necessitates a thoughtful, systematic, and
disciplined inquiry. Although psychiatric interviews are dynamic and
interactive processes, a general interview structure is required to promote
efficiency and to facilitate the recognition of diagnostic patterns and
symptoms. This structure should be sufficiently flexible that the interviewer
allows patients to talk about what is important to them, follows their cues
and leads, and is sensitive to their mental state, comfort level, and
personality style.
The interview of a new patient should begin with introductions,
including a statement of purpose and degree of confidentiality. An early
focus should be on developing rapport and a working alliance. Patients
should be given an opportunity to talk about what is important to them. The
early phases of the interview are necessarily open-ended in identifying the
history of the presenting problem(s) and symptoms, including the events
that led up to those problems. Listening and empathically responding,
deepening rapport, and seeking clarification should be priorities, especially
for this beginning stage of the interview. Such an open-ended approach
should be followed by screening for symptoms across diagnostic categories.
Some essential elements of the psychiatric interview include, but are not
limited to, identifying information (e.g., age, gender, marital status),
presenting problem, history of the presenting problem, past psychiatric
history, suicidal and/or homicidal history, substance use history (including
alcohol), medical history, family history, and personal and social histories.
In Part II of this Study Guide, more details on how to obtain the psychiatric
history are provided in relation to specific diagnostic categories.
Interviewing Techniques
Getting valid information from patients enhances the comprehensiveness of
information concerning clinical risks and consequences and thus enriches
clinical judgment. Eliciting accurate information from patients can be
challenging, especially when patients are reluctant to divulge sensitive
information for whatever reason. Interviewers may also be reluctant to enter
into areas that are uncomfortable for themselves, perhaps in anticipation of
discomfort in the patient. Feelings of discomfort in the interviewer can
unhinge judgment and impede further inquiry or alternatively might lead to
questions that invite a negative versus affirmative response by the patient. A
key strategy for validly obtaining information on sensitive issues is for the
interviewer to recognize any feelings of discomfort or distress during the
interview, in either the patient or the interviewer, and to prevent those
feelings from becoming negatively influential.
Sensitive areas of inquiry include the patient’s sexual history, alcohol
and drug history, history of possible victimization or violence, and suicidal
or homicidal ideation. Inquiry into the possibility of a history of sexual
abuse, for example, should be routinely conducted.
A number of strategies can be used for obtaining valid information
(Shea 1998). One is to wait to ask questions of a potentially sensitive nature
later in the interview, after rapport is established. A second strategy is to
provide the patient with a rationale for sensitive questions. For example, the
interviewer might tell the patient that questions about sexual history are
important for understanding risk for unwanted pregnancies and sexually
transmitted infections. A third strategy is for the interviewer to respond to
leads that the patient provides and that open the gate into sensitive areas,
while using language that facilitates and normalizes the expression of true
responses.
In one approach to the last strategy, the interviewer asks questions that
assume that the patient has experienced a particular event or feeling. The
patient’s willingness to affirm such an experience might become further
enhanced by the interviewer’s telling the patient how such an experience or
feeling is common, even expectable, given certain circumstances. For
example, when asking what suicidal thoughts a depressed patient is
experiencing, the interviewer might tell the patient that depression is almost
always associated with suicidal thoughts. Initial negative responses by the
patient, especially when these are counterintuitive, should invite
clarification and additional inquiry. Moreover, specific incidences and
details of behavior (e.g., sexual, abusive, suicidal, violent) should be
obtained. For example, a patient might be asked whether arguing with a
family member ever leads to physical blows.
Assessment
The psychiatric interview and MSE may be supplemented by administration
of validated and reliable assessment tools. These tools reduce subjectivity in
assessments and enable a formal evaluation of outcomes of treatment. There
are many such validated tools, both self-administered and clinician-
administered. Some tools provide information across a range of diagnostic
areas, whereas others focus on narrow areas, such as patients’ emotional or
cognitive abilities. Some tools seek to determine the nature, severity, and
duration of certain features of illness. Clinicians should learn about the
strengths and weaknesses of diagnostic tools, including their validity,
sensitivity, and specificity, and learn how to apply them to individual
patients in conjunction with the psychiatric interview.
DSM-5 includes a chapter, “Assessment Measures,” in Section III,
“Emerging Measures and Methods,” that features the following measures:
Summary
The clinical interview plays an essential role in arriving at an accurate
diagnosis. How an interview is conducted is an expression of the
professionalism of the interviewer, and it serves as the cornerstone of the
relationship between the clinician and patient. As described in this chapter,
the clinical interview is grounded in a nonreductionist biopsychosocial
model that gives importance to the whole person in context (Box 2–1).
Often-times patients may be in distress or have significant impairments that
become evident in a clinical interview, and sensitive information is, and
should be, elicited in an in-depth psychiatric interview. For these reasons,
special care to address the comfort of the patient and to demonstrate respect
toward the patient is warranted in psychiatry. The psychiatric interview, in
particular, relies on a rigorous MSE and systematic inclusion of information
from medical records and other informants, assessment (including formal
measures), physical examination, and laboratory testing.
Questions to Consider
Self-Assessment
Questions to Discuss With Colleagues and
Mentors
1. How does the clinician apply the biopsychosocial model for the practice
of psychiatry and related fields?
2. How do the professional virtues of integrity, compassion, self-
effacement, and self-sacrifice apply to the routine practice of psychiatry
and related fields?
3. What methods, including wording of questions, are used to facilitate
patients’ disclosure of sensitive information and to screen for selected
disorders?
4. What areas of the comprehensive psychiatric interview are challenging or
discomforting for the reader, and what steps can be taken to increase
comfort and skills in those areas?
5. How does the clinician incorporate a physical and laboratory examination
into the assessment of psychiatric patients?
Short-Answer Questions
1. What is the virtue of self-effacement, and what are the implications of
self-effacement for managing patients from different cultures?
2. How should a clinician begin a psychiatric interview with a new patient?
3. What techniques can be used for eliciting accurate information from
patients on sensitive topic areas?
Answers
1. The virtue of self-effacement requires the clinician’s humility. This
virtue enables clinicians to put aside differences when these should
not count as important in the clinical relationship. Clinicians should
therefore strive to learn about the cultures of each of their patients and
to respect cultural differences.
2. A new interview should begin with a general introduction and
statement of purpose. Providing patients with an early opportunity to
talk about what is important to them by using open-ended questions
and by responding empathically should help to develop rapport and a
working alliance with patients.
3. The interviewer should identify levels of discomfort in the interviewer
and/or patient when asking questions that might impede a sensitive
and accurate inquiry. Factors that enhance patients’ willingness to
answer honestly include developing rapport before asking questions
of a sensitive nature, explaining the rationale for the questions, gently
following leads, using facilitative or normalizing language, getting
behavioral details, and being flexible to patients’ personality style.
Recommended Readings
Poole R, Higgo R: Psychiatric Interviewing and Assessment. New York,
Cambridge Press, 2006
Shea SC: Psychiatric Interviewing: The Art of Understanding: A Practical
Manual for Psychiatrists, Psychologists, Counselors, Social Workers,
Nurses and Other Mental Health Professionals, 2nd Edition.
Philadelphia, PA, WB Saunders, 1998
Sommers-Flanagan J, Sommers-Flanagan R: Clinical Interviewing, 4th
Edition. New York, Wiley, 2012
Strub RL, Black FW: The Mental Status Examination in Neurology.
Philadelphia, PA, FA Davis, 1999
Trzepacz PT, Baker RW: The Psychiatric Mental Status Examination.
London, Oxford Press, 1993
References
Engel GL: The need for a new medical model: a challenge for biomedicine. Science 196:129–136,
1977
McCullough LB: John Gregory and the Invention of Professional Medical Ethics and the Profession
of Medicine. Dordrecht, The Netherlands, Kluwer Academic, 1998
Shea SC: Psychiatric Interviewing: The Art of Understanding: A Practical Manual for Psychiatrists,
Psychologists, Counselors, Social Workers, Nurses and Other Mental Health Professionals, 2nd
Edition. Philadelphia, PA, WB Saunders, 1998
Strub RL, Black FW: The Mental Status Examination in Neurology. Philadelphia, PA, FA Davis,
1999
3
Questions to Consider
• What “facts” does the psychiatrist have to help understand this clinical
story?
• Mr. Ramos describes feeling “despair”—is this a symptom, and what is
the differential diagnosis that goes with this finding?
• Mr. Ramos does not feel distressed by his daughter’s “visits,” yet they
have become a cause for others’ concern. How does this experience
relate to the normative experience in the patient’s religious community?
• What should be of greatest concern to the psychiatrist? For instance,
what serious physical health problems occur as an individual falls
asleep (e.g., hypnagogic hallucinations) at night? What additional
clinical data are needed to refine the diagnostic picture?
Questions to Consider
DSM Approach
DSM was originally valued as a research tool to provide common
guidelines for investigators—rather than for its clinical utility. Over time, it
has become firmly ingrained as the standard in psychiatric diagnosis among
mental health professionals. However, making a diagnosis is not a
mathematical problem: the sum of diagnostic criteria does not necessarily
provide the best answer. The concept of diagnosis implies the ability to sort
uncertainties and to decide between equally plausible solutions.
Progressively, the distinction between concomitant (nonexclusive)
diagnoses and concurrent diagnoses (those that exclude each other) is
vanishing. This distinction is crucial because it bears important
consequences in epidemiology and in clinical practice. Nonexclusive
categorization essentially inflates the prevalence of some mental disorders.
In the selection of treatment interventions, furthermore, the ambiguity and
overlap of diagnostic categories increases the likelihood of nonresponse to
treatment.
A classification system works, ideally, as a funnel, increasing the
specificity in discerning or determining a given disease. For example, at the
symptomatological level, 28.7% of the population endorses depressive
symptoms. The prevalence progressively decreases to 5.2% of the
population once the differential diagnosis is completed (Figure 3–2; M.M.
Ohayon, personal data, July 2013). Consequently, by itself the presence of
any depressive symptoms is helpful, but not in any way sufficient for
planning treatment. Careful reflection on the differential diagnosis (i.e.,
engaging in the process of excluding other diagnoses) can help clinicians in
this imprecise work. Consider the example of posttraumatic stress disorder.
Although many people of the general population reported having been
exposed to a traumatic event (15.5%), the prevalence progressively
decreased with the addition of other diagnostic criteria, and only 3.9% met
all the criteria for a diagnosis (M.M. Ohayon, personal data, July 2013). A
third example relates to social anxiety disorder. Of the general population,
10.8% of people report experiencing discomfort in various social situations.
However, only 3.4% of the population meet all the necessary symptoms and
criteria for diagnosis of social anxiety disorder (M.M. Ohayon, personal
data, July 2013).
DSM-5 preserves and advances the diagnostic classification scheme of
DSM-IV. DSM-5 developers sought to capture emerging scientific evidence
to more clearly separate or at times align diagnostic categories and to
provide a clearer rationale for elevating and refining specific diagnoses. The
overarching metastructure of DSM-5 was very intentional, creating a
spectrum in which similar diagnostic categories were placed nearer to one
another where possible. In DSM-5, there are 157 separate disorders,
whereas there were 172 separate disorders in DSM-IV. Interestingly, with
the decrease in total disorders in DSM-5, 15 new disorders were introduced
(Table 3–1), 2 were eliminated (sexual aversion disorder and polysubstance-
related disorder), and 22 were combined or consolidated with others (Table
3–2). Overall, classification of disorders emerging in childhood, sleep
disorders, and substance-related disorders changed perhaps the most in
DSM-5, whereas the personality disorders were preserved in their near-
exact formulation from DSM-IV. As discussed in detail throughout this
Study Guide, DSM-5 has changed the diagnostic criteria in highly utilized,
important, and long-standing disorders such as schizophrenia, bipolar
disorder, major depression, posttraumatic stress disorder, and attention-
deficit/hyperactivity disorder. DSM-5 also has moved away from “primary”
and “secondary” attributions and eliminated the “not otherwise specified”
language. Instead, it employs “other specified” and “unspecified”
conditions, bringing DSM-5 closer to the language of the ICD system.
FIGURE 3–2. Prevalence of depressive symptoms and diagnosis in the general population.
*Differential diagnosis refers to the positive diagnosis of a disorder excluding alternative, possible
diagnoses.
Source. M.M. Ohayon, personal data, July 2013.
Diagnostic schemes evolve and are adaptive tools. The reader should
seek to understand the value, application, and limitations of these tools—for
DSM-5 as well as other diagnostic classification approaches. For learners,
DSM-5 will prove to be helpful scaffolding for knowledge and will serve to
inform clinical and scientific judgment, an expression of expertise and
professionalism.
Self-Assessment
Questions to Discuss With Colleagues and
Mentors
1. What are the differences between a syndrome and a disorder? Why does
this differentiation matter to a learner in the health professions?
2. What are the advantages to a diagnostic classification system that uses
descriptive phenomenological criteria as opposed to etiological or
causal-based criteria?
3. How does a clinician handle overlapping diagnostic criteria for different
disorders?
4. What does it mean to use binary, probabilistic, and fuzzy logic models
in clinical care? How do these different approaches help in
understanding the prevalence and impact of different illnesses?
TABLE 3–2. Specific disorders newly combined in DSM-5 as compared
with DSM-IV
Short-Answer Questions
1. Which of the following diagnostic classification approaches is the most
common throughout the world?
A. Binary.
B. Categorical.
C. Etiological.
D. Fuzzy.
E. Probabilistic.
2. Which of the following lists is correctly ordered in terms of greatest
prevalence to least prevalence?
A. Disorder, symptom, syndrome.
B. Disorder, syndrome, symptom.
C. Symptom, disorder, syndrome.
D. Symptom, syndrome, disorder.
E. Syndrome, symptom, disorder.
3. Which of the following is a correct pair of a pathognomonic sign and the
clearly related diagnosis?
A. Chipmunk facies, bulimia nervosa.
B. Compulsive behaviors, obsessive-compulsive personality disorder.
C. Elevated heart rate, generalized anxiety disorder.
D. Intrusive thoughts, posttraumatic stress disorder.
E. Panic attacks, panic disorder.
Answers
1. B. Categorical.
The categorical approach is the most commonly used (e.g.,
International Statistical Classification of Diseases and Related Health
Problems [ICD]).
2. D. Symptom, syndrome, disorder.
The list that is correctly ordered in terms of the greatest prevalence to
least prevalence is symptom, syndrome, disorder. A diagnostic
classification scheme narrows from widely experienced phenomena
(such as a symptom of feeling sad or helpless) to a disorder (such as
major depressive disorder).
3. A. Chipmunk facies, bulimia nervosa.
Elevated heart rate, panic attacks, compulsive behaviors, and intrusive
thoughts occur in the context of many different disorders. Chipmunk
facies due to parotid gland swelling is tightly associated with the
presence of bulimia nervosa and has very rare other causes. For this
reason, it may be considered pathognomonic of this disorder.
Recommended Reading
Regier DA, Narrow WE, Kuhl EA, Kupfer DJ: The Conceptual Evolution
of DSM-5. Arlington, VA, American Psychiatric Publishing, 2011
References
Ohayon MM: Improving decision making processes with the fuzzy logic approach in the
epidemiology of sleep disorders. J Psychosom Res 47:297–311, 1999
Ohayon MM, Carskadon MA, Guilleminault C, Vitiello MV: Meta-analysis of quantitative sleep
parameters from childhood to old age in healthy individuals: developing normative sleep values
across the human lifespan. Sleep 27: 1255–1273, 2004
Zadeh LA: A theory of approximate reasoning. Machine Intelligence 9:149–194, 1979
PART II
Learning Objectives
• Describe how the history may be used to differentiate among the
disorders within and outside each respective diagnostic class.
• List interview questions that allow determination of which disorders
within the diagnostic class the patient is manifesting, including
disorders relating to substances and another medical disorder.
• Describe typical age at onset, risk factors, natural course, and
complications of disorders in each diagnostic class.
• Outline the influences of gender and culture on disorders in each
diagnostic class.
• Assess your practice for adequate screening and diagnosing of
disorders in each diagnostic class.
4
Neurodevelopmental Disorders
David S. Hong, M.D.
In this case, Bryan’s IQ falls just below two standard deviations from
the mean (<70), suggesting significant deficits in general mental abilities.
Furthermore, Bryan presents with a constellation of symptoms that are
consistent with fragile X syndrome, which is the most commonly inherited
form of intellectual disability. Fragile X includes findings of characteristic
facial features, stereotypic motor activity, and possible autistic symptoms.
Although there is no clear evidence for family history of intellectual
impairment, Bryan’s mother has a history of anxiety and infertility issues,
which may indicate that she carries a premutation. Fragile X syndrome is
one of several genetic disorders with a relatively high prevalence rate;
therefore, providers making an initial diagnosis of intellectual disability
should be thoughtful about establishing an etiology when specific physical
or medical features are present, because this diagnosis may have significant
impact on clinical management and family planning. Furthermore, Bryan
likely presents with features of ADHD and possibly autism spectrum
disorder.
Differential Diagnosis
The differential diagnosis of intellectual disability is relatively limited
because there are no exclusion criteria for this disorder. The diagnosis
should be made when criteria are met, regardless of whether other
diagnostic criteria are also fulfilled. Nevertheless, other psychiatric
diagnoses should certainly be ruled out, including neurocognitive disorder
with onset in childhood. Furthermore, it should be established that
intelligence is globally affected; if deficits are narrowly limited to specific
cognitive domains, diagnoses of specific learning disorder or
communication disorder may be preferred. It is also important to take into
consideration that impairments in these domains may make it difficult to
assess global intellectual function, whether due to inability to participate in
psychological testing or due to variable engagement or motivation in the
assessment environment.
Given that diagnosis of intellectual disability does not have exclusion
criteria, mastery of diagnostic criteria is relatively straightforward. The
primary points regarding diagnosis are to assess whether impairments in
general mental ability are not better explained by deficits in specific,
restricted domains that may be falsely skewing testing of general mental
abilities. A number of other diagnoses will also significantly influence
aspects of cognitive function, including ADHD, autism spectrum disorder,
mood disturbances, psychosis, and certain medical conditions. However,
establishing the diagnosis may be facilitated by attention to age at onset;
determination of episodic versus pervasive course; and a clear
establishment of the developmental trajectory. As discussed in DSM-5,
emphasis should also be placed on determining an underlying etiology,
especially because the clinical manifestation of symptoms may vary
significantly within this heterogeneous diagnostic category.
See DSM-5 for additional disorders to consider in the differential
diagnosis. Also refer to the discussions of comorbidity and differential
diagnosis in their respective sections of DSM-5.
Summary
• Intellectual disability represents global impairment of mental ability
across cognitive domains.
• Psychological testing can confirm Criterion A for deficits in general
mental abilities but may not reflect severity of functioning.
• Diagnosis of intellectual disability must always reflect impairment in
adaptive functioning (Criterion B); cognitive impairment alone is not
sufficient for diagnosis.
• Clinical approach to children with intellectual disability should include
thorough developmental, family, and clinical histories to increase
sensitivity for detecting syndromic manifestations.
• There are no exclusion criteria for diagnosis—intellectual disability
should be diagnosed whenever criteria are met, regardless of
occurrence with other comorbid diagnoses.
IN-DEPTH DIAGNOSIS
Autism Spectrum Disorder
The parents of a 2.5-year-old boy named Colin have presented to the outpatient child and
adolescent psychiatry clinic with concerns that he speaks only three words (“mama,” “dada,” and
“baby”) and has not established a relationship with his parents or 5-year-old sister. The parents
report that in retrospect, Colin did not seem “responsive” as an infant. They recall less cooing
and decreased eye contact and copying of facial expressions in comparison to his older sister’s
behavior at the same age. However, they really started being concerned when he still had not
acquired words by age 2 years. They note that over the past year, he has made only minimal
gains in language skills—he speaks three words and appears to follow some simple commands,
although neither of these behaviors is generally consistent or in context. Colin’s parents note that
he does not point or use gestures effectively; if he wants something, he will take them by the
hand to an area and grunt, often getting frustrated and having a temper tantrum if they are unable
to figure out what he wants. Colin also does not engage with peers and will completely ignore
his sister, at times crawling over her to get where he wants. He primarily plays alone and
obsessively with toys, lining up blocks by color or spinning wheels on trucks rather than rolling
trucks on the floor. Colin is also somewhat clumsy for his age and frequently makes odd
stretching postures with his fingers, but his medical history is otherwise unremarkable and his
hearing has tested within normal limits. Family history is significant only for a paternal uncle
who is “a bit odd” and “the black sheep of the family.”
The symptoms in this case likely meet criteria for autism spectrum
disorder. The child demonstrates pervasive developmental deficits in social-
emotional reciprocity, nonverbal communication, and maintenance of
relationships. It may be challenging to evaluate children with autism
spectrum disorder, particularly when structural language impairments are
present. Therefore, it is often important to obtain history from the family
and other collateral sources to develop a comprehensive picture of a child’s
skills in a variety of contexts. Additionally, social cognitive ability is often
difficult for individuals or family members to characterize. The psychiatrist
is able to prompt the family by asking broad questions, which may be
followed by more specific inquiries to establish that symptoms meet criteria
for the condition. The interviewer also screens for other psychiatric
disorders; however, further assessment of general mental abilities should be
tested to determine whether social deficits are in line with or exceed other
mental abilities, which would help to determine if the child meets criteria
for the diagnosis. After establishing that social cognitive impairments exist,
the psychiatrist also carefully ascertains how symptoms fall under specifiers
defined in DSM-5.
Differential Diagnosis
Many psychiatric disorders will have accompanying impairments in social
functioning, but autism spectrum disorder is distinguished by social
cognitive deficits representing the primary reason for symptoms. As an
example, intellectual disability may be difficult to differentiate from autism
spectrum disorder, because global impairments in mental functioning
generally affect all cognitive domains, including social processing.
However, a diagnosis of autism spectrum disorder should be made in an
individual with intellectual disability when impairments in social
communication and interaction exceed what would be expected for the
individual’s developmental level. Similarly, impairments in language,
particularly receptive language, may also lead to secondary impairments in
social functioning, requiring careful sensitivity on the part of an interviewer
in defining the nature of core symptoms. In other instances, core social
deficits may be present but are not accompanied by restricted or repetitive
behaviors, as is the case in selective mutism and social communication
disorder. In contrast, unusual motor stereotypies or repetitive behaviors in
the absence of core deficits in social communication would be better
categorized under stereotypic movement disorder, obsessive-compulsive
disorder, or obsessive-compulsive personality disorder. The ubiquitous
nature of social deficits and restrictive behaviors means there is a high
degree of overlap of symptoms with other psychiatric disorders. It is also
quite common for autism spectrum disorder to coexist with other
conditions, if and when criteria are specifically met for comorbid disorders.
Evaluation of autism spectrum disorder may be complicated by the fact
that impairment in communication is a primary feature of this condition,
which may lead to misinformation in the diagnostic process. As an
example, screening questions for psychotic symptoms, such as the item
“hears voices when alone,” may be interpreted literally, and a positive
response may mean that the patient is listening to the radio rather than
experiencing primary psychotic symptoms. Therefore, communication with
individuals affected by autism spectrum disorder requires thoughtfulness
about how information is perceived and understood. In cases where further
diagnostic clarification is needed due to limited history or communication
difficulties, standardized social cognitive assessments should also be
considered.
Lastly, it should be noted that DSM-5 has centralized diagnoses
characterized by impaired social communication and restrictive behavior
with the goal of consolidating shared features across these diagnoses.
Therefore, practitioners should pay particular attention to clarifying aspects
of the diagnosis that may help distinguish variations in clinical presentation
by careful screening for specifiers included under this diagnosis.
See DSM-5 for additional disorders to consider in the differential
diagnosis. Also refer to the discussions of comorbidity and differential
diagnosis in their respective sections of DSM-5.
Summary
• Specific attention should focus on social impairments and whether
these arise from problems innately resulting from social cognitive
abilities rather than from problems in other domains affecting social
functioning.
• Restrictive and repetitive criteria may encompass a range of motor,
interest, or behavioral aspects.
• Impairments will be pervasive and sustained, although manifestations
will vary according to intellectual and language ability, as well as
factors such as age.
• Compensatory strategies may influence presentation and time of
diagnosis.
• Criteria for autism spectrum disorder define core features of social
dysfunction; additional specifiers may be used to establish modifying
factors, including severity, accompanying intellectual or language
impairment, and presence of other related conditions.
IN-DEPTH DIAGNOSIS
Attention-Deficit/Hyperactivity Disorder
The mother of a 7-year-old boy named Shawn has brought him to the clinic because Shawn is
experiencing problems in school and his mother is concerned that “he never sits still for a
second.” She reports that she has had multiple complaints over the past 2 years from Shawn’s
teachers, who state that his behavior is extremely disruptive—he is often getting out of his seat,
talking with other classmates, and getting into arguments with peers during recess. His mother
also has concerns about his behavior at home, although to a lesser degree than the concerns from
school staff. She notes that he has always been an active child. She says that although he seems
to be able to focus intently on an activity for hours at a time (e.g., playing video games), he also
frequently gets out of his chair during meals, can never sit through a whole service at church,
and tends to be more oppositional with boundaries than his siblings. She also observes that he is
frequently losing his jackets and gloves and often forgets to complete or turn in homework
assignments. She further describes Shawn as being very impulsive: “He is always saying the first
thing on his mind”—which has caused problems with friends and family members on several
occasions. Furthermore, when his attention is captured by a particular idea, he acts on it
immediately, to the extent that he has walked out of a store or restaurant into the street by
himself, causing his family to be extremely concerned about his personal safety. Upon
observation during the interview, Shawn demonstrates a high degree of motor activity, jittering
his legs constantly for the 5 minutes he is sitting in his chair, and then is noted to wander around
the room, handling objects on the clinician’s desk and frequently interrupting the conversation
between the clinician and parent.
Differential Diagnosis
ADHD may be difficult to discriminate from a number of other psychiatric
disorders that affect higher cognitive functions of attention, motor, and
impulse control. ADHD may be particularly difficult to discriminate from
normative behaviors in early childhood. Oppositional defiant disorder and
intermittent explosive disorder are also characterized by impaired impulse
control, but specific features of hostility, aggression, and negativity are
absent in individuals with ADHD alone. Hyperactivity is also seen in
children with normative, high motor activity in the absence of other
symptoms but should be distinguished from stereotypic movement disorder,
autism spectrum disorder, and Tourette’s disorder, in which motor behaviors
are usually fixed and repetitive rather than generalized. Overall difficulties
with attention, particularly in the school environment, may also be affected
by mild intellectual disability and specific learning disorders, which can
lead to frustration or disinterest in academic activities, although comorbid
diagnoses can also be made when inattention persists in nonacademic tasks.
Similarly, depressive, bipolar, anxiety, and psychotic disorders will affect
attention and/or hyperactivity-impulsivity, although such effects are often
clearly tied to specific mood or anxiety states and are more episodic in
nature. External etiologies such as substance use disorders and side effects
from prescribed medications (e.g., bronchodilators, thyroid hormone) may
also closely mimic symptoms of ADHD and require thorough history and
workup during assessment. Lastly, reactive attachment disorder and
personality disorders share a number of nonspecific traits regarding
emotional dysregulation and disorganization problems with inattention that
require ongoing observation and assessment to distinguish these disorders
from ADHD.
See DSM-5 for additional disorders to consider in the differential
diagnosis. Also refer to the discussions of comorbidity and differential
diagnosis in their respective sections of DSM-5.
Summary
• ADHD symptoms may vary significantly across contexts and
developmental stage.
• Obtaining collateral information may be very helpful in establishing a
comprehensive picture of symptoms and adaptive functioning in
different environments.
• Impairments will broadly span clusters of inattention and hyperactivity-
impulsivity, and predominant symptoms in these domains over the most
recent 6 months will assist in establishing subtype.
• Difficulties with attention and hyperactivity can either mimic or be
comorbid with a broad range of other etiologies, necessitating a
thorough diagnostic evaluation and workup.
SUMMARY
Neurodevelopmental Disorders
Neurodevelopment is a dynamic process by which individuals acquire
capacities in cognitive, physical, language, and social-emotional domains.
This process is influenced by a number of factors, and there are many
shared characteristics in the general framework and timeline by which these
skills are acquired. Divergence from the expected sequence of events may
reflect a derailment of the developmental process, and attention should be
paid to how biological, psychological, or environmental factors may be
affecting an individual’s progress. The diagnostic class of
neurodevelopmental disorders is designed to capture the presence of
abnormal developmental processes, as well as to identify clinical symptoms
that indicate an underlying pathological process. The domains that are
affected may be heterogeneous, but the pervasive nature of symptoms over
early developmental stages is shared in this group of disorders.
Furthermore, symptoms for these groups may have a significant effect on an
individual’s functioning, with potentially severe consequences.
Diagnostic Pearls
• Concrete knowledge of developmental milestones is important for
making accurate diagnoses.
• Comprehensive family histories may provide significant
information in establishing a diagnosis, because many of these
disorders are believed to have a strong genetic predisposition.
• With some exceptions, neurodevelopmental impairments tend to
show a predominance in males.
• Disorders in this diagnostic class often share common features
across cultural groups, but compensatory strategies used by
families in dealing with symptoms may demonstrate sociocultural
influences.
• Thorough medical histories will be useful in defining syndromes
associated with neurodevelopmental disorders; physical exam
findings and neurological signs may be particularly helpful.
• Increased access to and affordability of comprehensive genetic
testing may make such testing a useful clinical modality for
disorders in this class, particularly for intellectual disability and
autism spectrum disorder.
• Collateral sources of information and standardized assessments
are useful for diagnosis, particularly for individuals who are not
able to participate fully in the diagnostic process.
Self-Assessment
Key Concepts: Double-Check Your Knowledge
What is the relevance of the following concepts to the various
neurodevelopmental disorders?
• Developmental milestones
• General intelligence
• Cognitive subdomains
• Social cognition
• Attention
• Hyperactivity
• Motor ability
Case-Based Questions
PART A
Gregory is a 13-year-old boy who was diagnosed prenatally with Down syndrome. His parents
report a history of mild to moderate developmental delays: Gregory spoke his first words at age
1.5 years, and he started walking at age 2 years. Medical history is significant for surgical repair
of a septal defect in infancy; short stature; vision impairment requiring glasses; and mild hearing
loss bilaterally. His parents have brought him in for evaluation because of a recent increase in
maladaptive behaviors at his middle school. Reports indicate that he is increasingly distracted
and has trouble maintaining attention in his special day classroom and that he is more irritable
and aggressive with his peers and staff than in the past.
PART B
Gregory’s parents have brought his Individualized Education Program report, which includes
results for psychological testing over the past several years. His full-scale IQ is in the 60–65
range, and academic achievement testing reveals lower scores across all domains. Teacher
feedback suggests that Gregory appears withdrawn and less interested in class over the past
several months, despite the absence of significant changes in his curriculum or classroom
environment. He has also had a recent medical evaluation, including a hearing assessment,
which showed no changes from his exam 1 year earlier.
PART C
More detailed history reveals that Gregory had problems with sustaining attention with difficult
tasks when he was younger, although his parents did not feel it significantly affected his adaptive
functioning at the time, particularly because he had a very supportive home and school
environment. They also do not recollect that he was particularly fidgety or impulsive. When
asked, Gregory focuses less on symptoms of attention or distractibility and instead endorses
symptoms of depressed mood. He states that he increasingly feels alone and “different” from his
peers and has many days when he feels too “sad” to go to school.
Short-Answer Questions
1. List three causes for intellectual disability.
2. Which of the following symptoms fall under the diagnostic criteria for
autism spectrum disorder: limited facial expressions, echolalia,
inaccurate word reading, clumsiness, lack of interest in peers, decreased
sensitivity to temperature, self-injurious behavior?
3. Describe sex differences in the presentation of autism spectrum
disorder.
4. How might the clinician differentiate between symptoms of bipolar
disorder and ADHD?
5. List four medical conditions that may mimic symptoms of ADHD.
6. What is a difference in presentation for adults in comparison to children
with ADHD?
7. How might intellectual disability be differentiated from specific
learning disorder? Can these diagnoses coexist?
8. Which motor skills are affected in developmental coordination disorder?
9. Name at least two conditions to screen for when evaluating an
individual for stereotypic movement disorder.
10. What is the distinguishing characteristic of Tourette’s disorder from
other tic disorders?
Answers
1. Down syndrome (trisomy 21) is the most common cause of
intellectual disability; fragile X syndrome represents the most
common inherited cause; and phenylketonuria is a metabolic disorder
that leads to impairments in intellectual ability if left untreated.
2. Limited facial expressions and lack of interest in peers are
characteristic deficits in social communication and interaction in
autism spectrum disorder, and echolalia and decreased sensitivity to
temperature represent typical restricted and repetitive behaviors
associated with the disorder. Although subtle motor deficits may be
observed in children with autism spectrum disorder, clumsiness is not
a specific diagnostic feature. Likewise, self-injurious behavior may be
observed in autistic children with severe features but is not part of the
diagnostic criteria. Inaccurate word reading may suggest a diagnosis
of language disorder or specific learning disorder.
3. Males are diagnosed with autism spectrum disorder four times more
often than females, and there is some evidence to suggest that autistic
girls are more likely to have accompanying intellectual disability.
4. Young children with bipolar disorder may also present with increased
motor activity, impulsivity, and problems with attention and
irritability, particularly during hypomanic and manic episodes.
However, these symptom presentations tend to be more episodic in
nature and correlate with changes in mood state. The nature of motor
activity is also usually more goal directed.
5. A wide range of conditions may also result in problems with attention,
hyperactivity, and impulsivity; some medical etiologies include
medication side effects (bronchodilators, neuroleptics, thyroid
medications), thyroid disease, lead poisoning, obstructive sleep apnea,
substance abuse, and sensory impairments such as hearing loss.
6. Adults with ADHD may be less likely to have overt symptoms of
increased motor activity, but they may still experience an increased
internal sense of restlessness or difficulty participating in sedentary
activities. Also, for older adolescents and adults (ages ≥17 years) with
ADHD, only five symptoms from the inattention or hyperactivity-
impulsivity domains are required for diagnosis.
7. Intellectual disability involves impairment in general mental ability,
whereas specific learning disorder involves an individual’s ability to
acquire skills in one or more academic domains, including reading,
writing, or arithmetic. General intelligence will affect performance in
specific academic skills, and individuals with specific learning
disorder should also be evaluated for intellectual disability. Both
diagnoses may be appropriate if difficulties in an academic skill
exceed what would be expected given an individual’s general
intelligence.
8. Developmental coordination disorder covers a broad range of fine and
gross motor skills, including general clumsiness, catching objects,
handwriting, and riding a bike.
9. Trichotillomania and obsessive-compulsive disorder should be
considered when assessing repetitive motor activity, because there
may be instances where these disorders will be the more appropriate
diagnosis.
10. Tourette’s disorder can be distinguished from persistent motor or
vocal tic disorder by virtue of having both motor and vocal features,
and from provisional tic disorder based on duration of symptoms (>1
year).
5
“I need to have a brain scan to find the transmitter and get it out of there.”
Schizophrenia and the other psychotic disorders in this diagnostic class all
share the common manifestation of psychosis. Psychotic thinking is a
symptom, not a diagnosis by itself, and can be a presenting symptom of
other disorders not in this class. Psychosis can be defined as a break in
reality testing either by having sensory experiences that are not usual in a
person (e.g., hallucinations) or by holding a belief or set of beliefs that is
not accepted by most people (e.g., a delusion). Schizophrenia is a disease
affecting thinking, communication, and behavior. Ever-growing research
supports genetic, biochemical, and anatomical markers of schizophrenia.
Less is known and researched on the other psychotic disorders.
The DSM-5 chapter on schizophrenia and other psychotic disorders
includes abnormalities in one or more of the following domains: delusions,
hallucinations, disorganized thinking (speech), grossly disorganized or
abnormal motor behavior (including catatonia), and negative symptoms.
The innovators of DSM-5 listed the disorders in this class as follows:
schizotypal (personality) disorder, delusional disorder, brief psychotic
disorder, schizophreniform disorder, schizophrenia, schizoaffective
disorder, substance/medication-induced psychotic disorder, psychotic
disorder due to another medical condition, and catatonia.
Overall, schizophrenia and its related psychotic disorders in DSM-5
have undergone moderate changes from the DSM-IV disorders. For
schizophrenia, the five symptoms of Criterion A are the same (delusions,
hallucinations, disorganized speech, grossly disorganized or catatonic
behavior, and negative symptoms). Two or more of these symptoms are still
required. However, in DSM-5, at least one of these must be a delusion,
hallucination, or disorganized speech. This change eliminates the rare case
under DSM-IV of an individual diagnosed with schizophrenia despite
having only grossly disorganized or catatonic behavior and negative
symptoms and no active psychotic symptoms. Another change in DSM-5 is
that a clinician can no longer diagnose schizophrenia with only one
Criterion A symptom if the patient is experiencing either a bizarre delusion
or commenting voices. The final substantive change in the diagnosis of
schizophrenia is the exclusion of subtypes, except for a specifier for
catatonia. Thus, persons with schizophrenia no longer will be identified as
paranoid, disorganized, and so on. The diagnosis continues to require
markedly low levels of functioning in one or more major areas, such as
work, interpersonal relations, or self-care. Continuous signs of the
disturbance must persist for at least 6 months. Symptoms in Criterion A
must be present for at least 1 month and may include periods of prodromal
or residual symptoms. If there is a diagnosis of autism spectrum disorder or
communication disorder of childhood onset, the diagnosis of schizophrenia
requires the presence of prominent delusions or hallucinations.
These changes in the schizophrenia diagnosis also affect the other
psychotic disorder diagnoses that require meeting the schizophrenia criteria
but have shorter time durations of illness (i.e., schizophreniform disorder
and brief psychotic disorder). If the length of time meeting the criteria is
greater than 1 month but less than 6 months, the diagnosis of
schizophreniform disorder should be used. If the symptoms are present for
at least 1 day but less than 1 month, the diagnosis of brief psychotic
disorder should be considered. Brief psychotic disorder can be further
characterized depending on whether it occurs with or without a marked
stressor or with peripartum onset (including within 4 weeks postpartum).
Because these diagnoses depend on duration of illness, the diagnosis could
change with greater time and continued symptoms.
An important consideration for the diagnosis of schizophrenia is
whether the symptoms of Criterion A are due to a mood disorder. In other
words, major depressive disorder and bipolar disorder must be ruled out. If
the psychosis is only present when there is an identifiable mood disorder,
then the psychosis is part of a mood disorder. A useful analogy is that the
mood disorder is the fuel for the psychosis: put out the fuel (i.e., control the
mood disturbance), and the psychosis is snuffed out. In contrast, if the
symptoms of a psychotic disorder remain for at least 2 weeks after a
diagnosed mood disorder is no longer clinically present, the fuel for the
psychosis is independent of the mood disorder. In those situations, the
diagnosis of schizoaffective disorder should be entertained. In DSM-5, the
mood disorder, even if treated, must be present for the majority (>50%) of
the duration of the illness. Another significant consideration before the
diagnosis of schizophrenia can be made is whether a patient has a
substance/medication-induced psychotic disorder or a psychotic disorder
due to another medical condition. In both of these diagnoses, another
explanation for the psychosis is suspected.
If Criterion A for schizophrenia is not met, several other diagnoses in
this class can be considered. For example, if an individual manifests
delusions alone for at least 1 month and the delusions do not markedly
affect functioning, a delusional disorder should be considered. Subtypes of
delusional disorder include erotomanic, grandiose, jealous, persecutory,
somatic, and mixed. Some individuals manifest pervasive social and
interpersonal difficulties that are “psychotic like” but do not meet the full
symptom picture. Such individuals are often odd or eccentric and detached
from others by lack of empathy or intimacy. In these cases, the diagnosis of
schizotypal personality disorder may apply. In other cases, subclinical
forms of delusions, hallucinations, and disorganized speech come to
attention. A new diagnosis is attenuated psychosis syndrome (included in
DSM-5 Section III as a condition for future study), which can be used to
identify those persons who need immediate treatment and observation for
potential progression to an established psychotic disorder. In some
instances, the only disturbance is a pattern of abnormal movements and
behavior that are identified as part of a catatonia (three or more abnormal
psychomotor features). In DSM-5, catatonia is not treated independently,
but it can occur in several disorders, including the following: catatonia
associated with another mental disorder, catatonic disorder due to another
medical condition, and unspecified catatonia. Finally, if there is psychosis
that cannot be definitively placed in a specific disorder, a diagnosis of
unspecified schizophrenia spectrum and other psychotic disorder may be
appropriate.
In addition, other modifications affect the diagnoses of the other
psychotic disorders. In schizoaffective disorder, the change of the word
substantial to majority in Criterion C helps clarify the diagnosis
significantly. Previously, the field debated what constituted a “substantial”
duration of a mood disorder, and percentages varied from 15% to 50% of
the illness length. The DSM-5 criteria specify that the mood disorder period
must be present for the majority (>50%) of the time. This change should
help standardize the diagnostic use of the category in both clinical and
research practices. For delusional disorder, DSM-IV stipulated that the
delusion must be nonbizarre; in DSM-5 any delusion may be present, but
even a bizarre delusion must not markedly impair function or lead to
obviously bizarre or odd behavior. Shared psychotic disorder is no longer a
separate diagnosis in DSM-5. In circumstances of two persons sharing
delusional and psychotic thinking, each person must meet the full criteria to
receive the diagnosis of delusional disorder. In cases when the nondominant
partner does not meet full criteria for any psychotic disorder, that person
should be diagnosed using “other specified schizophrenia spectrum and
other psychotic disorder” with the specifier “delusional symptoms in
partner of individual with delusional disorder.”
Diagnosing and treating persons with schizophrenia and the other
psychotic disorders pose unique challenges. Many clinicians and family
members have personal experiences with the symptoms of other mental
illnesses. For example, feeling depressed, anxious, or overly preoccupied
are common experiences, which may or may not progress to a diagnosis of
a mental illness. In contrast, hallucinations and delusions are singular
experiences. A clinician may merely be able to say, “I can only imagine
what you are going through.” Without a personal frame of reference for
understanding the psychotic illnesses, a clinician can only wonder how hard
it is for the person who manifests these symptoms initially and then
chronically. The clinician may not be able to truly understand the symptoms
but can understand and empathize with the distress and feeling of alienation
resulting from these illnesses.
Often patients and families would like to know what the prognosis is
with these disorders. Much will depend on the stage of the illness. If the
symptoms are less than 6 months in duration and either schizophreniform
disorder or brief psychotic disorder is diagnosed, the clinician must
communicate a wait-and-see perspective. If the diagnostic criteria exceed
the 6-month time limit, then a discussion of how to live with a potentially
chronic disorder must ensue. In either case, the clinician’s experience with
the psychotic disorders is critical. An experienced clinician who has worked
with a large number of patients with psychosis is usually aware of the
highly variable outcomes, which depend on patients’ insight into their
illness, their premorbid level of functioning, and family and social supports.
Clinicians should align themselves with their patients’ goals and accentuate
their patients’ strengths and resilience in dealing with the illness.
IN-DEPTH DIAGNOSIS
Schizophrenia
Mr. Kennedy is a 19-year-old sophomore in college who did well his freshman year but has had
significant worsening of his grades recently. His parents are concerned because he calls them
rarely, and when he does call, he seems distant and distracted. His parents note that they started
to see changes when he came home after his first year, when he was working at a fantasy card
store and often came home smelling of cannabis. They persuaded him to see a psychiatrist,
although he declined at first. During the initial evaluation, while his parents were present, Mr.
Kennedy was withdrawn and reluctant to talk. The psychiatrist asked to see him alone, and the
parents left. When the psychiatrist asked if he enjoyed playing a particular fantasy game, Mr.
Kennedy seemed to brighten and related how, although most people think it is just a game, he
knew better. He related that he hears the voice of the “Grand Sorcerer,” who told him the secrets
to how people around him are pawns in a larger game of good versus evil. The psychiatrist asked
how long he had been able to communicate with the Grand Sorcerer, and Mr. Kennedy said he
had since the sorcerer came to him the previous summer (7 months before this evaluation).
When asked if he communicated with the Grand Sorcerer after smoking cannabis, Mr. Kennedy
said that he initially began to hear the voice after smoking cannabis but that he had not smoked
for more than 3 months. A urine toxicology performed that day was negative for any illicit
substances.
Differential Diagnosis
The differential diagnosis of schizophrenia is a process of eliciting the
cardinal symptoms represented in Criterion A and then determining whether
these symptoms might be indicative of another disorder. Functional
impairment is usually a main reason for the person to come to the attention
of health care providers. The degree of functional impairment might help
differentiate between more circumscribed disorders, such as delusional
disorder or mood disorders. If the person has a noticeable presentation of
depression or mania, mood disorders and schizoaffective disorder need to
be immediately considered. The number of episodes and the recovery from
psychosis with control of mood help differentiate mood disorders from
schizophrenia. The continued manifestation of psychosis with control of
mood (including treated time segments) directs the differential to either
schizoaffective disorder or schizophrenia. Distinguishing these two can be
difficult and requires a careful retrospective bookkeeping of the percentage
of mood disorder versus the overall length of the psychotic illness.
Other important differentiators include length of illness and possible
other external explanations for the symptoms. Along a time continuum,
brief psychotic disorder is of less than 1 month in duration;
schizophreniform disorder, less than 6 months in duration; and
schizophrenia and schizoaffective disorder, greater than 6 months. If either
an underlying medical condition or use of illicit substances is a possible
source of the schizophrenic symptoms, it must be eliminated as the
potential cause. The treatment of underlying medical conditions and the
assurance of abstinence from substance use, when applicable, may lead to
complete resolution of the schizophrenic symptoms and confirm a diagnosis
of psychotic disorder due to another medical condition or
substance/medication-induced psychotic disorder. Personality disorders
(e.g., schizotypal personality disorder), communication disorders, and
autism spectrum disorder must also be considered and usually include a
long-standing pattern of behavior without the full-blown presentation of
psychosis seen in schizophrenia. Depending on the content of symptoms,
obsessive-compulsive disorder, body dysmorphic disorder, and
posttraumatic stress disorder should also be considered.
See DSM-5 for additional disorders to consider in the differential
diagnosis. Also refer to the discussions of comorbidity and differential
diagnosis in their respective sections of DSM-5.
Summary
• Schizophrenia and the other psychotic disorders share the common
manifestation of psychosis. Psychotic thinking is a symptom, not a
diagnosis by itself, and can be a presenting symptom of other disorders
not in this diagnostic class.
• Schizophrenia is a serious mental disorder affecting thinking,
communication, and behavior. Psychosis is a critical element of this
diagnosis; hallucinations and delusions are two of the five symptoms
listed in Criterion A. The other three symptoms are disorganized
speech, grossly disorganized or catatonic behavior, and negative
symptoms.
• Persons must meet at least two of these Criterion A symptoms, and one
must be a delusion, hallucination, or disorganized speech for at least 1
month.
• Persons must have significant disturbances in functioning secondary to
the symptoms, with a wide range of functional domains possibly
affected (e.g., school, work, interpersonal relationships) for at least 6
months.
• The lifetime prevalence of schizophrenia is estimated to be
approximately 0.3%–0.7%.
• Age at onset is typically in the late teens and the mid-30s and is slightly
younger in men than in women (mid-20s vs. late 20s).
• Morbidity data for persons with schizophrenia are often difficult to
capture, but it is widely accepted that those with schizophrenia suffer
from a greater burden of weight gain, diabetes, metabolic syndrome,
cigarette smoking, cardiovascular and pulmonary disease, and
substance abuse. A shared vulnerability for psychosis and medical
disorders may explain some of these comorbidities.
• Individuals with schizophrenia have a decrease in their life expectancy.
• Psychotic symptoms tend to diminish over the life course, perhaps in
association with normal age-related declines in dopamine activity.
Negative symptoms are more common in males and tend to be the most
persistent and tend to have a worse prognosis.
• Approximately 5%–6% of persons with schizophrenia die by suicide.
IN-DEPTH DIAGNOSIS
Brief Psychotic Disorder
Ms. Baker is a 38-year-old married woman with three children and an eleventh-grade education.
Her husband abandoned her a week ago and cannot be located. She is unemployed and recently
spent the last of her money paying bills. She presented to the emergency clinic with her sister.
According to her sister, Ms. Baker has not been bathing or cooking meals for the last few days,
and she was seen staring at a wall for hours while talking to herself. There were no prior mood
disorder symptoms and no previous psychotic episodes. There is no known history of drug
abuse.
On examination, Ms. Baker was alert and oriented, with intermittent eye contact. She
reported no thoughts of suicide. She stated that she hears the voice of her grandmother trying to
help her. Her grandmother’s voice is very clear, and Ms. Baker feels her presence near her. Ms.
Baker is admitted to the psychiatric hospital for observation. Her admission drug screen and labs
are all normal. On the unit she quickly recovered and, after attending groups and speaking to a
social worker, was discharged. No psychotic symptoms were evident at discharge and no
medications prescribed. An outpatient therapist appointment was made for follow-up care. No
further psychotic episodes or mood disorder symptoms occurred in the next 6–8 months.
Differential Diagnosis
The differential diagnosis of brief psychotic disorder includes psychosis
from other causes, such as schizophrenia, delusional disorder, and mood
disorders such as major depressive disorder with psychotic features or
bipolar I disorder, current episode manic, with mood-congruent psychotic
features. The examiner should also carefully exclude substance/medication-
induced psychotic disorder, delirium, factitious disorder, and malingering.
Personality disorders such as paranoid personality disorder and schizotypal
personality disorder should also be considered.
The time course of the development of a disorder is important to
consider when formulating a differential diagnosis. For example, an acute
or abrupt onset of confusion, disorientation, and bizarre behavior may
indicate a delirium. Mood disorders can be recurrent and often have a
positive family history. Schizophrenia and schizophreniform disorder have
both positive and negative symptoms and a much longer duration of
symptoms. Factitious disorder occurs when the patient tries to maintain the
“sick role.” In malingering, a secondary gain such as admission to a
hospital for food and shelter is seen. Personality disorders such as
schizotypal personality disorder and paranoid personality disorder endure
throughout a person’s lifespan.
See DSM-5 for additional disorders to consider in the differential
diagnosis. Also refer to the discussions of comorbidity and differential
diagnosis in their respective sections of DSM-5.
Summary
• The diagnosis of brief psychotic disorder requires the presence of one
or more of the following symptoms: delusions, hallucinations,
disorganized speech, or grossly disorganized or catatonic behavior. This
list does not include symptoms that are culturally sanctioned.
• The duration is at least 1 day and less than 1 month, with a return to a
premorbid level of functioning.
• A mood disorder such as depression or bipolar disorder with psychotic
features is not the cause of symptoms.
• Schizophreniform disorder or schizophrenia criteria are not met,
particularly the criteria for duration of symptoms.
• Delirium and substance/medication-induced psychosis are carefully
screened for and ruled out.
• Symptoms are not the result of a personality disorder, malingering, or
factitious disorder.
• Symptoms may occur with or without a marked stressor.
IN-DEPTH DIAGNOSIS
Delusional Disorder
Ms. Gordon is a 39-year-old woman brought to the emergency department by police for
allegedly harassing a popular music star. She appeared well dressed, was tastefully made up, and
was outwardly friendly. She had a college education, was single, and had no substance abuse
history. She appropriately answered all questions from the nurses and doctor. When she was
asked about the harassment complaints involving the musician, however, she became upset and
explained that she was supposed to marry him. In addition, for the past 2 years Ms. Gordon has
been writing the celebrity love letters and trying to call him; tonight she tried to approach him at
the hotel where he was staying before a concert. When asked further questions about this
“relationship,” she explained in elaborate detail how they met online and how they were
supposed to get married this night.
Her mental status examination was unremarkable, save for the fixed false belief that she was
supposed to marry this celebrity. She remained calm as long as no one challenged this false
belief. She was eventually given a low dose of an antipsychotic to keep her calm and help her
sleep.
Her sister arrived later and provided more details. According to her sister, the family at first
believed that Ms. Gordon was seeing this man but quickly realized it was not true. Her sister
confirmed that aside from her preoccupation with the celebrity, Ms. Gordon had normal mood,
sleep, energy, and activity levels. She lived alone and had stable employment in an advertising
agency. The sister had not observed any symptoms of mania, depression, or hallucinations.
Psychiatrists must often rely on collateral sources of data for making the
proper diagnosis. Sometimes this information becomes necessary in
emergencies when a person cannot communicate well or is unable to
establish a discourse with the clinician. In other situations, gathering these
data requires patience and written permission from the person. In either
type of situation, it is helpful for the clinician to gather relevant clinical
information from third parties, such as close relatives or friends. Persons
with psychosis often have disorganized thoughts, delusions, or active
hallucinations, which can make it difficult, if not impossible, to gather
enough information to make a proper assessment. It can sometimes be a
mistake to rely on the interview as the sole source of clinical information.
For example, many of the diagnostic criteria for psychiatric conditions
require time durations for symptoms to be present. Relying on the person’s
report alone can be misleading, because persons with these conditions can
be so impaired as to not know the exact dates and places of previous
episodes or treatments.
In 1877, Lasègue and Falret described folie à deux (“a madness shared
by two”), in which the index or primary case has a psychotic illness such as
schizophrenia. The secondary case usually has a close relationship with the
index case, such as spouse or sibling. The index case usually has a more
dominant personality style. The secondary case may have some
vulnerability in personality or in other unknown ways.
In this case, the husband shares many of his wife’s delusions. He does
not meet criteria for schizophrenia because he does not have the usual
symptoms of Criterion A, such as hallucinations or disorganized speech or
thoughts. He only shares some of his wife’s delusions in a milder, less
bizarre presentation. Therefore, his diagnosis would be delusional disorder
with bizarre content. In this case, the symptoms may be an acquired
condition from a dominant psychotic partner. The secondary case usually
improves when separated for some time from the primary case.
Differential Diagnosis
Delusional disorder should be considered when a person has a delusion that
is not due to another condition. Persons with substance/medication-induced
psychotic disorder, delirium, and major neurocognitive disorder should be
appropriately screened. If the person meets Criterion A for schizophrenia,
then delusional disorder should not be diagnosed. Delusional disorder
typically produces less impairment than schizophrenia in social and
occupational functioning.
It is also important to carefully screen persons with delusions for a
mood disorder, because unipolar depression and bipolar disorder (either
with depression or manic episodes) can have psychotic symptoms such as
delusions as part of the person’s presentation. For example, a grandiose
delusion or erotomanic delusion could easily occur in the midst of a manic
episode with mood-congruent psychosis.
Finally, persons with body dysmorphic disorder or obsessive-
compulsive disorder can appear to have severely distorted thoughts that
may appear as delusions. Appropriate clinical correlation and careful
examination may be helpful.
See DSM-5 for additional disorders to consider in the differential
diagnosis. Also refer to the discussions of comorbidity and differential
diagnosis in their respective sections of DSM-5.
Summary
• The presence of a fixed false belief in a person who does not meet the
other criteria for schizophrenia could lead to a diagnosis of delusional
disorder.
• It is important to rule out medical conditions, major neurocognitive
disorder, and delirium in any person with psychotic symptoms.
Appropriate cognitive screening and testing may be helpful.
• Shared psychotic disorder (folie à deux) is no longer a distinct
diagnosis in DSM-5. Persons who meet criteria should be diagnosed
with delusional disorder even if the symptoms are apparently induced
by a close and intense relationship with another person with psychosis.
• Delusions can occur in the midst of a depression or manic episode and
should be considered part of the mood disorder episode instead of
delusional disorder.
• External informants and collateral data are useful to determine if a
patient has a delusion rather than a belief that is part of his or her
culture or religion.
IN-DEPTH DIAGNOSIS
Schizoaffective Disorder
Mrs. Collins is a 30-year-old married woman with two children. She presented to the clinic with
her husband for an evaluation. She described having had her first depression in her senior year in
high school. She began taking medication at that time with good results. She went to a local
community college, where she met her husband. She did well until she had her second child at
age 27. At that time she had another episode of depression, which worsened to the point that she
became isolated, had poor sleep and appetite, and began to hear the voice of a former high
school teacher saying negative things about her. She believed that the teacher was going to report
her to the authorities and that she would lose custody of her children. At that time she had her
first hospitalization and was stabilized with both antidepressant and antipsychotic medications.
She responded well and returned home to take care of her children. After a year, her psychiatrist
felt that she had been doing well: her mood was euthymic, and she exhibited no symptoms of
psychosis. Because of concerns of possible long-term side effects from her antipsychotic
medication, she was gradually tapered off of it. For several months she seemed quite well, but
then she began to hear whispers of the voices of her former teacher and of other people from her
past. She did not describe any problems with her mood, and she exhibited no depressive or
manic symptoms or signs. When interviewed by her psychiatrist, she reported that she had been
hearing the voices for 6 weeks and thought they would pass. The psychiatrist restarted her
antipsychotic medication, and the auditory hallucinations remitted. The psychiatrist and the
patient decided that for the foreseeable future, she would take both antidepressant and
antipsychotic medications.
Differential Diagnosis
Diagnosing schizoaffective disorder is an exercise in differential diagnosis.
Embedded in the diagnosis is the presence of elements of both
schizophrenia and a major mood disorder. By definition, the clinician must
distinguish this diagnosis from three main diagnoses: schizophrenia, major
depressive disorder with psychotic features, and bipolar disorder with
psychotic features. Uncoupling the psychotic symptoms from the mood
disorder and determining whether the mood disorder lasted for more than
half the time are essential to the diagnosis. Of note, if the psychotic
component is a newly presenting element for the patient, the same
differential for schizophrenia must be considered. Thus, those with
psychotic symptoms for less than 1 month may have a brief psychotic
disorder, whereas those with psychotic symptoms for fewer than 6 months
may have schizophreniform disorder.
The other diagnostic considerations are whether the disorder is
secondary to a substance/medication-induced disorder or another medical
condition. Personality disorders can sometimes be confused with
schizoaffective disorder. For example, persons with borderline personality
disorder with periods of mood instability and psychotic-like states can
appear similar to those with schizoaffective disorder. The rapid volatility of
the symptoms of borderline personality disorder can be helpful in making
the correct diagnosis.
See DSM-5 for additional disorders to consider in the differential
diagnosis. Also refer to the discussions of comorbidity and differential
diagnosis in their respective sections of DSM-5.
Summary
• Schizoaffective disorder is an admixture of mood and schizophrenia-
like symptoms. Symptoms from both diagnostic groups must be
confirmed during the lifetime course of the disorder.
• Establishing an independent period of at least 2 weeks that satisfies
Criterion A for schizophrenia is necessary.
• A careful calculation of how much of the person’s treatment history has
been either during an overt mood episode or while successfully treated
by medication is critical. If that time is greater than 50% of the total,
then schizoaffective disorder should be strongly considered.
• Schizoaffective disorder is considered more common in women.
SUMMARY
Schizophrenia Spectrum and Other Psychotic
Disorders
The changes in the diagnosis of schizophrenia spectrum and other psychotic
disorders in DSM-5 have been evolutionary, not revolutionary. The hope is
that these changes will help better distinguish each disorder and provide the
most valid and reliable sets of criteria.
The diagnosis of schizophrenia, considered the “anchor” diagnosis, now
requires that one symptom of Criterion A be a delusion, hallucination, or
disorganized speech, ensuring that all persons with this diagnosis have
psychotic symptoms. The special status of bizarre delusions or complex
hallucinations has been eliminated. In most clinicians’ experiences, persons
commonly present with more than two symptoms of Criterion A.
Brief psychotic disorder remains essentially the same and still relies on
carefully determining that the illness interval is fewer than 30 days.
Likewise, schizophreniform disorder remains a time-limited diagnosis that
will either resolve or evolve to schizophrenia or another psychiatric
disorder.
Delusional disorder continues to identify persons with unfounded
beliefs that have a limited effect on overall behavior and functioning.
Shared delusional disorder, historically called folie à deux, has been
eliminated from DSM-5.
Diagnosing schizoaffective disorder has been difficult in the past
because of the ambiguity of what was meant by having a mood disorder for
a “substantial” period of time, which experts have described as ranging
from 15% to 50%. The new criterion of “majority” of the time should help
tighten the diagnosis. It will still be a challenge, however, to determine the
length of treated time, because many patients remain on antidepressants
whether or not they need them.
Psychotic disorders due to another medical condition or
substance/medication-induced psychotic disorders are continuing reminders
that psychotic symptoms may have physical or intoxicant etiologies.
Finally, nearly all these diagnoses can have a catatonic specifier. The
definition of catatonia is provided in the DSM-5 section “Catatonia
Associated With Another Mental Disorder (Catatonia Specifier),” which
lists a dozen symptoms, including stupor, catalepsy, mutism, and echolalia.
Diagnostic Pearls
• Determining the presence of a psychosis, with either
hallucinations or delusions, is the first task in diagnosing
individuals with schizophrenia spectrum and other psychotic
disorders.
• The length of time that the person has exhibited psychotic and/or
negative symptoms drives the decision process for many cases:
brief psychotic disorder<schizophreniform disorder<schizophrenia
or schizoaffective disorder.
• Teasing out the presence and proportion of time that an individual
has a diagnosable mood disorder is critical to determining whether
the person has a schizophreniform disorder or a mood disorder.
• The accurate diagnosis of schizoaffective disorder requires two
critical elements: a diagnosable mood disorder must exist for
greater than 50% of the time (even if treated successfully), and a
period of schizophrenia symptoms must last for at least 2 weeks in
the absence of the mood disorder.
• In the majority of cases, even patients with severe schizophrenia
spectrum disorders are oriented to person, place, and time.
Disorientation is either a diagnostic warning flag for a
substance/medication-induced psychosis or a result of an
unrecognized or inadequately treated medical illness.
• Autism spectrum disorder can be confused with schizophrenia or
schizophreniform disorder. Autism spectrum disorder usually
begins at an earlier age, and individuals with autism spectrum
disorder are not expected to experience long-enduring
hallucinations and/or delusions.
Self-Assessment
Key Concepts: Double-Check Your Knowledge
What is the relevance of the following concepts to the various
schizophrenia spectrum and other psychotic disorders?
• Psychosis
• Delusions
• Hallucinations
• Disorganized speech
• Grossly disorganized or catatonic behavior
• Negative symptoms
• Severity of effect on psychosocial function (such as work,
relationships, self-care)
• Ruling out mood disorders and substance/medication-induced
psychotic disorders
• Determining duration of mood and psychotic symptoms separately
Case-Based Questions
PART A
Mr. Jenkins, a 19-year-old man, is brought to the emergency department after being found
incoherent by the police. According to paramedics, he was sitting on a street curb and appeared
disoriented and confused. His identity was unknown. Witnesses told police that he appeared to
be yelling at someone and that he acted as if someone were chasing him. Intravenous fluid was
started at the scene, and the paramedics transported the man to the hospital. In the emergency
department, Mr. Jenkins was drowsy, with a blood pressure of 180/98 and a heart rate of 148. His
urine drug screen was positive for cocaine and cannabis. His pupils were dilated. One hour later,
when a medical student was examining his dirty clothes and his neck, where he had a tattoo of a
crucifix, the patient suddenly jumped up and screamed. He believed that ghosts in the hospital
and dead people were trying to choke him. He tore the IV loose from his arm. The patient was
immediately sedated with antipsychotic medication. He was later admitted to the intensive care
unit for observation and monitoring of his unstable vital signs. He was found to be agitated due
to hallucinations and delusions but was oriented to time, place, and person.
PART B
Three days after admission, Mr. Jenkins was calmer and medically stable. He was transferred to
the psychiatric unit at the hospital. He gradually became alert and oriented to all spheres. The
hallucinations of ghosts also resolved. He watched TV on the unit and talked to other patients.
His affect was mostly flat. The nurses stated that he was seen talking to himself and responding
to things in the room that were not there. On the eighth hospital day, he explained to the
psychiatrist, “It was now about the sixth hour, and darkness came over the whole land until the
ninth hour, for the sun stopped shining. And the curtain of the temple was torn in two.” Nobody
understood this statement until a medical student queried the phrase on the Internet and
discovered that it was a verse from the Bible. Mr. Jenkins continued to exhibit bizarre behavior
and speech patterns. He stood in place for hours with a blank stare and had to be reminded to eat.
He believed that he was a “prophet from the Gospels” and that he was here to “cure the evil of
all men.” He believed that his mind could move the sun and the moon. When asked about his
past, he stated that he was born on Saturn and that Uranus was his home. He could not maintain
a proper discourse for very long and laughed inappropriately while discussing the size of his feet
and genitals. A nurse that used to work at another hospital stated that she knew Mr. Jenkins from
a previous psychiatric hospitalization 10 months earlier and that he acted exactly like this. She is
sure that he was not using drugs then. His mother was eventually located. She had never
observed any manic or depressive symptoms in her son and stated that he had been psychotic for
the past year and had never used drugs until now.
Short-Answer Questions
1. What are common substances that can cause psychotic symptoms?
2. Does it generally matter what type of hallucinations or delusions a
person has in order to receive a diagnosis of substance/medication-
induced psychotic disorder?
3. How can a clinician detect if a person with a substance/medication-
induced psychotic disorder has another major mental illness, such as
major depression or schizophrenia?
4. What are the symptoms of Criterion A for schizophrenia in DSM-5?
Which Criterion A symptoms must be present for at least 1 month in
order to make the diagnosis of schizophrenia? What is the diagnosis if
the symptoms of Criterion A for schizophrenia last only 20 days?
5. What are the symptoms of Criterion B for schizophrenia?
6. Is hearing voices of a running commentary or experiencing third-person
hallucinations diagnostic of schizophrenia?
7. What is the diagnosis if a patient has symptoms consistent with
schizophrenia for several years and then suddenly has a manic episode?
8. Does the duration of the prodromal and attenuated form of
schizophrenia count toward the 6 months needed for a diagnosis of
schizophrenia?
9. Do the DSM-5 criteria for delusional disorder allow for bizarre
delusions?
10. What are the two time criteria critical to making a diagnosis of
schizoaffective disorder?
Answers
1. Common substances that can cause psychotic symptoms are cocaine,
amphetamines, cathinones, LSD (lysergic acid diethylamide),
mushrooms, cannabis, medications, phencyclidine (PCP), alcohol,
inhalants, sedatives, hypnotics, and anxiolytics.
2. No. It does not matter what type of hallucinations or delusions a
person has in order to receive a diagnosis of substance/medication-
induced psychotic disorder, which can easily look like schizophrenia.
3. Generally, a clinician cannot detect another major mental illness and
has to rely on outside sources, records, and informants, or wait for the
substance/medication-induced state to clear first.
4. Criterion A symptoms for schizophrenia include delusions,
hallucinations, disorganized speech, grossly abnormal psychomotor
behavior (including catatonia), and negative symptoms (e.g.,
diminished emotional expression or avolition). At least one of the
following Criterion A symptoms for schizophrenia must be present
for at least 1 month: hallucinations, delusions, or disorganized speech.
If the symptoms of Criterion A for schizophrenia last only 20 days,
the diagnosis is brief psychotic disorder.
5. Criterion B for schizophrenia requires that level of functioning in one
or more major areas (e.g., work, interpersonal relations, or self-care)
is markedly below the level achieved before the onset.
6. No single symptom is diagnostic for schizophrenia. Other criteria are
also required. The symptoms noted in the question may also occur in
other types of psychosis, such as during a manic episode or from
substance use.
7. Several diagnoses should be considered in the context of an enduring
psychotic disorder and the emergence of a new set of symptoms
consistent with a disruptive mood. Medical and substance-related
factors should be explored. The possibility that the patient has
schizoaffective disorder may be evaluated as a clinical hypothesis.
8. Yes. Under Criterion C, the duration of the prodromal and attenuated
form of schizophrenia counts toward the 6 months needed for a
diagnosis of schizophrenia.
9. Bizarre delusions by themselves do not rule out delusional disorder,
but these delusions cannot have a significant effect on functioning,
and behavior cannot be odd or bizarre.
10. The two time criteria critical to making a diagnosis of schizoaffective
disorder are 2 weeks of symptoms from schizophrenia Criterion A
without a mood disorder and greater than 50% of the time with a
mood disorder (including treated intervals).
6
IN-DEPTH DIAGNOSIS
Bipolar I Disorder and Bipolar II Disorder
Police bring Mr. Ross, a 21-year-old single man and a creative writing senior at an Ivy League
university, to the emergency department after he created a disturbance at a computer store. His
mood is irritable and expansive as he boastfully reports smashing a computer on the floor after
the store manager refused to hire him as an advertising consultant (a job that had not been
posted). Mr. Ross demonstrates pressured speech, flight of ideas, and distractibility while
describing how the advertising campaign that he devised in the prior week will revolutionize not
only the marketing of computers but also that of all other consumer goods. He denies drowsiness
despite sleeping only 2 hours each night for the last week, but he admits that for the last few days
he has been hearing the voice of Steve Jobs suggesting ideas for a computer advertising
campaign. Mr. Ross admits to a month-long major depressive episode during high school, which
was successfully treated with psychotherapy. He admits to a history of some binge drinking and
weekend use of marijuana as a freshman but denies any use of alcohol or drugs in the last 3
months. His father was briefly hospitalized for an unspecified psychiatric disorder in his 20s and
died in a single motor vehicle crash in his mid-30s.
Mr. Ross meets criteria for bipolar I disorder with a current manic episode with psychotic
features. In addition to the presence of psychosis (i.e., auditory hallucinations and grandiose
delusions), his behavior has been disturbed enough to result in his being transported to the
emergency department by the authorities, indicating severe functional impairment and, therefore,
representing a manic episode rather than merely a hypomanic episode. Male gender, onset in early
adulthood, a possible family history of bipolar disorder, presence of psychotic features, and
occurrence of a major depressive episode are all common but not required for a diagnosis of
bipolar I disorder.
Approach to the Diagnosis
Bipolar disorders may be more often underdiagnosed (e.g., in individuals
with bipolar disorders who view themselves as merely having depression)
than overdiagnosed (e.g., in persons with Cluster B personality disorders
who view themselves as merely having frequent mood changes). Correct
diagnosis of bipolar disorders crucially depends on the ability to accurately
detect episodes of mood elevation (i.e., hypomanic or manic episodes).
Affected people more commonly present with, and are more sensitive
observers of, symptoms of depression than symptoms of mood elevation,
making distinguishing bipolar disorders from unipolar major depressive
disorder (by detecting episodes of mood elevation) a particularly important
challenge. Individuals may use the terms mood swings, rapid cycling, or
even mania or hypomania with meanings that differ from the DSM-5
definitions, thus potentially causing confusion.
Manic episodes are by definition severe (i.e., they entail psychosis,
hospitalization, or severe functional impairment) and must occur in bipolar I
disorder (but must not occur in bipolar II disorder or unipolar major
depressive disorder). A history of bankruptcy, incarceration, and multiple
occupational/relationship failures related to episodes of mood elevation
suggests that at least one such episode may have been severe enough to be
considered manic rather than merely hypomanic.
Hypomanic episodes are by definition not severe (i.e., they do not entail
psychosis, hospitalization, or severe functional impairment). They must
occur in bipolar II disorder, they can occur in bipolar I disorder, but they
must not occur in unipolar major depressive disorder. Function during
hypomanic episodes may improve, rather than deteriorate, which makes
detection more challenging. Decreased need for sleep ought to be
distinguished from insomnia; it highly suggests episodes of mood elevation,
although it is not a required symptom. Stressors that are either positive (e.g.,
occupational promotion, new romantic attachment) or negative (e.g.,
performance demands, relationship termination) can trigger episodes of
mood elevation. Manic and hypomanic episodes with mixed features may be
reported by some persons as depressions. Detection of past as opposed to
current episodes, irritable as opposed to euphoric episodes, episodes with as
opposed to without mixed features, and hypomanic as opposed to manic
episodes is more challenging because patients are at greater risk to fail to
recognize these.
Major depressive episodes must occur in bipolar II disorder and unipolar
major depressive disorder and most often occur (but are not required) in
bipolar I disorder. Distinguishing prior (and even current) major depressive
episodes with mixed features (which may occur in bipolar and related
disorders and unipolar major depressive disorder) from hypomanic episodes
(which may occur in bipolar and related disorders but not in unipolar major
depressive disorder) can be particularly challenging.
Collateral history from significant others, particularly regarding the
possibility of prior manic or hypomanic episodes and the extent of mood
elevation symptoms during major depressive episodes, can help enhance
diagnostic accuracy.
Distinguishing episodes of mood elevation related to bipolar I disorder
or bipolar II disorder as opposed to such episodes triggered by
antidepressants or illicit substances can be challenging.
Substance/medication-induced bipolar and related disorder tends to occur
within 3 months of introduction of a substance or medication or a dose
increase and not to persist beyond the physiological action after
discontinuation of a potentially implicated substance or medication.
Common comorbid conditions such as anxiety, substance use,
personality, eating, and pediatric disruptive behavioral (e.g., attention-
deficit/hyperactivity disorder [ADHD], oppositional defiant disorder, and
conduct disorder) disorders can distract clinicians, patients, and their
families from detecting episodes of mood elevation.
As stated in DSM-5, “The lifetime risk of suicide in individuals with
bipolar disorder is estimated to be at least 15 times that of the general
population. In fact, bipolar disorder may account for one-quarter of all
completed suicides (p. 131).… Approximately one-third of individuals with
bipolar II disorder report a lifetime history of suicide attempt (p. 138).… A
previous history of suicide attempt and percent days spent depressed in the
past year are associated with greater risk of suicide attempts or completions”
(p. 131).
Ms. Wright presents with complaints of depression and meets criteria for
a major depressive episode but also meets criteria for a hypomanic episode.
With more limited assessment, a clinician might determine only a current
major depressive episode (or possibly a major depressive episode with
mixed features), consistent with a diagnosis of unipolar major depressive
disorder. However, with additional careful questioning, it becomes apparent
that Ms. Wright also meets criteria for a hypomanic episode, consistent with
a diagnosis of bipolar II disorder. Mixed symptoms of depression and mood
elevation may involve ultradian cycling (i.e., mood changes occurring within
a day), as seen in Ms. Wright, or more continuous, simultaneous mixed
symptoms. DSM-5 is silent regarding patients with concurrent major
depressive and hypomanic episodes, raising the possibility of diagnosing
both at the same time. In contrast, DSM-5 indicates that patients with
concurrent major depressive and manic episodes, in view of the severity
requirement for manic episodes, ought to be diagnosed with a manic episode
with mixed features.
Ms. Lee meets criteria for bipolar II disorder with a current major
depressive episode and rapid-cycling course (at least four episodes in prior
year). Hypomanic episodes as compared to manic episodes have a shorter
minimum duration (4 days rather than 7) and do not entail psychosis,
psychiatric hospitalization, or severe social or occupational dysfunction.
Diagnosis of bipolar II disorder requires the occurrence of at least one major
depressive episode and at least one hypomanic episode. Compared with
bipolar I disorder, bipolar II disorder has more anxiety and substance use
disorder comorbidity; somewhat later onset; and in clinical samples, more
association with female gender. Hypomanic episodes in women with bipolar
II disorder are more likely to entail mixed features than those in men. In
individuals with bipolar disorder who are undergoing rapid cycling, it is
important to assess for confounding effects of substances or medications and
medical disorders, which may indicate the presence of a
substance/medication-induced bipolar and related disorder or a bipolar and
related disorder due to another medical condition.
Ms. Lee’s Asian American ethnicity could influence her presentation,
because data suggest that Asian American and Hispanic American
individuals with bipolar II disorder may be less likely to present at bipolar
disorder specialty clinics than their white counterparts, perhaps due to
stigma.
Differential Diagnosis
Because the differential diagnosis of bipolar disorder includes disorders
induced by a medication or substance (e.g., alcohol or illicit drugs) or due to
another medical condition (most commonly neurological and endocrine
disorders), it is important to perform a careful substance use and medical
assessment. Unipolar major depressive disorder is the most common
misdiagnosis. Individuals presenting with depression need to be carefully
assessed for a history of prior manic or hypomanic episodes (including
collateral history from significant others). Depressed patients with onset
before age 25 years; a history of multiple, rapidly emerging, and rapidly
resolving depressions; untoward experiences with antidepressants (e.g.,
worsening of depression or switching into mood elevation); and a family
history of bipolar disorder are at increased risk for having bipolar disorder.
Because manic episodes in bipolar I disorder or major depressive episodes in
bipolar I or bipolar II disorder can have psychotic features, psychotic
disorders such as schizophrenia need to be ruled out—in the psychotic
disorders, psychotic symptoms are more chronic and prominent than mood
symptoms.
Bipolar II disorder is distinguished from bipolar I disorder primarily in
that the latter, but not the former, entails severe episodes of mood elevation
(with psychosis, hospitalization, or severe social or occupational
dysfunction). Symptoms of cyclothymic disorder may overlap those of
Cluster B personality disorders, but instability of mood is more prominent
than disturbance of identity or interpersonal relationships. ADHD is most
common in male children and adolescents and involves chronic (rather than
episodic) problems related to disturbance of attention and behavior (rather
than mood). Because anxiety can be accompanied by
irritability/psychomotor activation (resembling mood elevation) and/or
demoralization/psychomotor retardation (resembling depression), it is
important to distinguish anxiety disorders and posttraumatic stress disorder
from bipolar and related disorders. Also, use of certain substances can yield
mood elevation symptoms, while discontinuation of such substances can
yield depressive symptoms, making it important to distinguish substance use
disorders from bipolar and related disorders.
Finally, patients with bipolar and related disorders commonly have
comorbid anxiety disorder(s), ADHD, and/or substance use disorder(s), so
that it is important to consider the possibility of any comorbid disorder(s).
See DSM-5 for additional disorders to consider in the differential
diagnosis. Also refer to the discussions of comorbidity and differential
diagnosis in their respective sections of DSM-5.
Summary
• Bipolar disorders are common and chronic and involve recurrent
episodes of mood elevation and (most often) depression that can be
challenging to distinguish from unipolar major depressive disorder.
• Bipolar disorder diagnoses are based on both current and past clinical
phenomena.
• Individuals with bipolar disorder more commonly present with
depression than with mood elevation and may have difficulty
recognizing past (or even current) periods of mood elevation.
• Bipolar I disorder requires at least one manic episode, which entails
psychosis, hospitalization, or severe functional impairment.
• Bipolar II disorder requires (in addition to at least one major depressive
episode) at least one hypomanic episode, which does not entail
psychosis, hospitalization, or severe functional impairment, and no prior
manic episode.
SUMMARY
Bipolar and Related Disorders
Bipolar and related disorders are common (but not as common as unipolar
major depressive disorder). Although the majority of people with depression
have unipolar major depressive disorder, as many as one in four people with
depression have bipolar and related disorders. Thus, it is crucial to screen all
depressed patients for a lifetime history of bipolar and related disorders by
detecting prior (or current) episodes of mood elevation. Patients are less
likely to recognize or report episodes that occurred in the past and involved
irritability, mixed features, or hypomania. They are more likely to report
episodes that are current, involve euphoria or mania, and are without mixed
features. Collateral information from significant others can be very valuable
in detecting such prior episodes of mood elevation. Depressed patients with
onset before age 25 years; a history of multiple, rapidly emerging, and
rapidly resolving depressions; untoward experiences with antidepressants
(e.g., worsening of depression or switching into mood elevation); and a
family history of bipolar disorder are at increased risk for having bipolar
disorder and thus merit particularly careful assessment for episodes of mood
elevation. Because substance use and anxiety disorders commonly co-occur
with mood disorders, it is also important to screen for these conditions in
persons with mood problems. Other common comorbidities include pediatric
disruptive behavioral disorders (e.g., ADHD, oppositional defiant disorder,
and conduct disorder), Cluster B personality disorders (e.g., borderline
personality disorder), and eating disorders. In patients with comorbid
psychiatric disorders, bipolar disorders are commonly the current main focus
for treatment, although on occasion comorbid disorders may represent more
prominent current problems than bipolar disorders.
Diagnostic Pearls
• Bipolar disorder is diagnosed on the basis of both current and past
clinical phenomena.
• Individuals with bipolar disorder more commonly present with
depression than with mood elevation and may have difficulty
recognizing past (or even current) periods of mood elevation.
• Unipolar major depressive disorder is a crucial differential
diagnostic possibility and the most common misdiagnosis of people
with bipolar disorder.
• During episodes of mood elevation, mood may be irritable rather
than euphoric, making recognition of such episodes more
challenging.
• Common comorbidities such as substance use, anxiety disorders,
pediatric disruptive behavioral disorders, eating disorders, and
Cluster B personality disorders can make diagnosing bipolar
disorder more challenging.
• Bipolar disorders have complex, variable phenomenology, with
different subtypes, mood states, courses, and age-dependent
presentations.
• Collateral information from significant others can enhance
accuracy in diagnosing bipolar disorder.
Self-Assessment
Case-Based Questions
PART A
Mr. Martin is a 26-year-old, single graduate student who complains of anxiety with physical
discomfort when teaching. He reports increased social anxiety since becoming a teaching
assistant 6 months ago. He gives a history of problems with social anxiety (e.g., shyness with
girls, dreading being called on in class, avoiding parties) since age 16 that responded partially to
individual psychotherapy. He states that for the past 6 months his social anxiety has been
increasing, and he admits that for every class he taught during the past 2 weeks, he has dreaded
receiving poor assessments from his students (some of whom are older than he is) and has been
anxious to the point of physical discomfort (e.g., with flushing and sweating). He reports that he
increased his individual psychotherapy to weekly a month ago and added group psychotherapy 2
weeks ago.
PART C
At the next visit, Mr. Martin’s brother accompanies him and provides important collateral
information. The brother reports that for a time when Mr. Martin was 24, he had less social
anxiety and embarked on his first lifetime romantic relationship with a female classmate, but then
began covertly dating her younger sister. When the classmate learned of Mr. Martin’s actions, she
terminated the relationship, and he “crashed” into a 3-month depression. On careful direct
questioning, Mr. Martin and his brother agreed that this all happened after the patient had had a 1-
month period of bright mood, increased activity, energy, self-confidence, rapid thoughts,
increased social activity (joining three clubs on campus), and increased alcohol consumption (five
or more alcoholic beverages each Friday and Saturday night). Mr. Martin’s brother added that he
had learned that their paternal grandfather had had several affairs followed by depressions.
What is Mr. Martin’s diagnosis? Mr. Martin appears to have social anxiety
disorder (currently the main focus of treatment), as well as bipolar II
disorder, with current subsyndromal depressive symptoms. Alcohol abuse is
a possibility to be ruled out.
Short-Answer Questions
1. What is the minimum duration of manic versus hypomanic episodes?
2. What are the severity criteria for manic versus hypomanic episodes?
3. What gender differences are encountered in bipolar disorders?
4. What age differences are encountered in bipolar disorders?
5. Bipolar and related disorder due to another medical condition results
most often from what kind of medical disorders?
6. What type of psychiatric medications most commonly triggers
substance/medication-induced bipolar and related disorder?
7. Which psychiatric disorders may include major depressive episodes with
mixed features?
8. Which psychiatric disorders may include hypomanic episodes with
mixed features?
9. Which psychiatric disorders may include manic episodes with mixed
features?
10. How many episodes per year are required for a rapid-cycling course?
Answers
1. Seven days is the minimum duration for a manic episode (or any
duration if hospitalization occurs) versus 4 days for a hypomanic
episode.
2. Manic episodes require (and hypomanic episodes prohibit) psychosis,
hospitalization, or severe functional impairment.
3. Women compared with men with bipolar disorder experience more
depression, rapid cycling, mixed states, and possibly bipolar II
disorder.
4. Children and adolescents may present with disruptive behavioral
disorders (e.g., ADHD, oppositional defiant disorder, and conduct
disorder), whereas older adults may present with bipolar and related
disorder due to another medical condition.
5. Bipolar and related disorder due to another medical condition most
often results from neurological and endocrine disorders.
6. Antidepressants most commonly trigger substance/medication-induced
bipolar and related disorder.
7. Bipolar I disorder, bipolar II disorder, and major depressive disorder
may include major depressive episodes with mixed features.
8. Bipolar I disorder or bipolar II disorder (but not major depressive
disorder) may include hypomanic episodes with mixed features.
9. Bipolar I disorder (but not bipolar II disorder and major depressive
disorder) may include manic episodes with mixed features.
10. Four episodes per year are required for a rapid-cycling course.
7
Depressive Disorders
Bruce A. Arnow, Ph.D.
Tonita E. Wroolie, Ph.D.
Sanno E. Zack, Ph.D.
IN-DEPTH DIAGNOSIS
Major Depressive Disorder
Ms. Spaulding, a 26-year-old single woman, presents to her internist complaining of insomnia.
Upon interview, she reveals that she also has depressed mood, her ability to concentrate is
diminished, she is not finding pleasure in activities that are usually fun for her, her energy and
appetite are diminished, and she has recently been having thoughts that she would be better off
dead. She denies having a suicide plan but says “if something were to happen, I don’t think I
would care.” Symptoms had arisen 2 months ago, following a breakup with her boyfriend. She
reports having been depressed in her early 20s, also following the end of a relationship with an
earlier boyfriend. Ms. Spaulding notes that she is a “worrier”—that is, she is anxious about a
number of issues, especially her job performance, although she has never had a negative job
performance review. Medical tests are negative. Ms. Spaulding does not abuse substances and
denies a history of mania or hypomania.
Onset of major depression can occur at any age. Mr. Calhoun did not
have a history of major depressive disorder earlier in his life. The onset of
depression in late life is frequently associated with an accumulation of
losses. Mr. Calhoun had lost his wife and numerous close friends. He
described a lack of purpose and an absence of goals going forward, which is
also common in late-life depression. Symptoms that are worse in the early
morning, involve either loss of pleasure in all or almost all activities and/or
lack of reactivity to normally pleasurable stimuli, combined with
psychomotor retardation and weight loss, are indicative of major depressive
disorder with melancholic features. Excessive or inappropriate guilt may
also be observed in cases of melancholic depression. Of course, as occurred
in this case, it is important to rule out medical illness that might account for
such symptoms.
Differential Diagnosis
One of the most important psychiatric disorders to differentiate from major
depressive disorder is bipolar disorder. Indeed, many individuals with
bipolar disorder are incorrectly diagnosed with unipolar depression and do
not receive appropriate treatment. People who appear depressed but who
have experienced a manic or hypomanic episode should be diagnosed with
bipolar disorder. Thus, any person who presents with depression should be
asked whether there has ever been a period in which they experienced
decreased need for sleep, pressured speech or unusual talkativeness,
engaging in risky behavior that is unusual for them (e.g., buying items they
cannot afford, risky sexual behavior), or other symptoms of mania or
hypomania. It is also important to note that certain medications can be
associated with manic-like symptoms; those individuals with symptoms that
are attributable to the effects of medication would not be classified as
having bipolar illness. Substance use may also be associated with symptoms
similar to depression (e.g., cocaine withdrawal). If the symptoms are fully
attributable to the effects of substance use or withdrawal, then another
diagnosis would be appropriate. For example, in the case of depressed
mood associated with cocaine withdrawal, the diagnosis would be cocaine-
induced depressive disorder, with onset during withdrawal.
Moreover, major depression is frequently comorbid with other
psychiatric illnesses. For example, anxiety disorders and substance use
disorders commonly coexist with major depression. A person may present
for treatment of panic disorder, but on interview may also meet criteria for
major depressive disorder. In addition to presenting with other psychiatric
illnesses, individuals with depression frequently present in medical settings
with somatic symptoms, such as insomnia and fatigue. This presentation
occurs in all cultures but is more widespread in cultures where it is
explicitly considered more acceptable to present physical symptoms than
psychiatric ones.
See DSM-5 for additional disorders to consider in the differential
diagnosis. Also refer to the discussions of comorbidity and differential
diagnosis in their respective sections of DSM-5.
Summary
• Hallmark symptoms of major depressive disorder involve depressed
mood and/or loss of interest or pleasure in all or almost all activities. At
least one of these symptoms must be experienced almost all day, nearly
every day, for at least 2 weeks.
• Including at least one of the above symptoms being present, the
individual must have at least five of nine symptoms of depression to
qualify for a diagnosis of major depressive disorder.
• The symptoms must also cause significant distress or impairment in
key social, occupational, or other areas of functioning.
• It is important to rule out general medical conditions or use of
substances as a cause of depressive symptoms.
IN-DEPTH DIAGNOSIS
Disruptive Mood Dysregulation Disorder
Jack, an 8-year-old boy, is referred by his pediatrician to a child psychiatrist due to concerns
regarding chronic irritability and outbursts of rage. Jack’s parents report that he is constantly
angry, lashing out at his parents and siblings with little provocation, and is frequently in trouble
at school for whining, pushing others, and refusing to complete homework. They describe
temper tantrums of multiple hours in duration, during which time Jack will scream, cry, and
throw items such as schoolbooks and toys, often breaking them. At times he will hit his parents,
younger brother, or family pets. These tantrums occur five to six times per week, and during the
outbursts, Jack is unable to be soothed or redirected. Outbursts typically occur when Jack is
asked to do nonpreferred activities, such as to complete homework or chores, and when Jack
loses at games or perceives that others are being favored; the outbursts are worse when he is
tired or hungry. His parents and pediatrician describe him as having been a difficult and colicky
infant and report that he was diagnosed at age 4 with oppositional defiant disorder and symptoms
of ADHD, but his difficulties have progressed over the past 2 years into chronic irritability and
anger. Jack’s parents became particularly concerned when he recently grabbed a knife during one
tantrum and threatened to stab himself. There has been no history of elevated or euphoric mood
and an absence of pressured speech, flight of ideas, or goal-directed activity. Sleep is
unremarkable. Distractibility is chronic for Jack and not mood related.
The clinician should interview both the caregivers and the child about
the child’s symptoms. Caregivers are frequently better reporters of
externalizing symptoms, and children and adolescents are better at reporting
their internalizing symptoms. In the case of disruptive mood dysregulation
disorder, however, the sad, irritable, or angry mood must be observable to
others, so caregiver reports are particularly important, and corroboration by
teachers is also helpful. Parental report of “tantrums” is insufficient for
diagnosis. The clinician must ascertain frequency, intensity, duration, and
severity, such as by asking for examples of the behaviors that occur during
the temper outbursts (e.g., yelling, throwing items), the duration of these
outbursts, the degree to which school and family routines are disrupted, and
the consequences (including injury to others or destruction of property).
Other important questions include how the outbursts end (e.g., being sent to
the principal at school, hospitalization, or the parents having to restrain the
child all may suggest high severity) and whether caregivers feel the
outbursts are markedly more intense than those of siblings, peers, or other
children. Obtaining information about the child’s presenting mood between
the temper outbursts is of equal importance to the diagnosis.
Differential Diagnosis
The most important psychiatric disorder to differentiate from disruptive
mood dysregulation disorder is bipolar disorder. Disruptive mood
dysregulation disorder was added to DSM-5 in part as a response to the
plethora of children referred for possible bipolar disorder who presented
with chronic, as opposed to episodic, mood dysregulation. The primary
difference between disruptive mood dysregulation disorder and bipolar
disorder is that bipolar disorder manifests as delineated mood episodes with
a discrete time period during which a change in mood is accompanied by
four or more additional symptoms (e.g., increased goal-directed activity,
racing thoughts, pressured speech, distractibility, engagement in high-risk
activity). In bipolar disorder, as in disruptive mood dysregulation disorder,
irritability may be the index mood; however, for patients with disruptive
mood dysregulation disorder, the irritability is pervasive and continuous,
whereas patients with bipolar disorder have periods of time between mood
episodes in which mood may be euthymic. In addition, elevated or euphoric
mood is characteristic of mania in bipolar disorder and is not typically seen
in disruptive mood dysregulation disorder. If a child exhibits more than 1
day of manic-like symptoms, the child should not be diagnosed with
disruptive mood dysregulation disorder. Thus, any child who presents with
disruptive mood dysregulation disorder should be queried with his or her
caregivers about whether there has ever been a period in which the child
experienced decreased need for sleep, pressured speech or unusual
talkativeness, or grandiosity; engaged in risky behavior that is unusual (e.g.,
running into the street, hypersexuality, atypical “daredevil” activities); or
demonstrated other symptoms of mania or hypomania. Intermittent
explosive disorder is also exclusionary for disruptive mood dysregulation
disorder, because children with intermittent explosive disorder do not show
persistent negative mood between outbursts.
Disruptive mood dysregulation disorder is typically comorbid with
other psychiatric illnesses. Most patients presenting with disruptive mood
dysregulation disorder will also meet criteria for oppositional defiant
disorder, although the reverse is not true. Additional common co-
occurrences are ADHD, anxiety disorders, unipolar depression, and autism
spectrum disorder. It is important to identify the source that triggers temper
outbursts when considering a diagnosis of disruptive mood dysregulation
disorder. If these outbursts occur exclusively in a single context (e.g.,
medical appointments, classroom presentations, or disruption of a preferred
routine), the tantrums might be better accounted for by specific phobia,
social anxiety disorder, or autism spectrum disorder, respectively. However,
co-occurrence of these disorders with disruptive mood dysregulation
disorder is also possible.
See DSM-5 for additional disorders to consider in the differential
diagnosis. Also refer to the discussions of comorbidity and differential
diagnosis in their respective sections of DSM-5.
Summary
• The hallmark symptom of disruptive mood dysregulation disorder
involves severe, recurrent temper outbursts.
• Outbursts can manifest verbally or behaviorally but are grossly
disproportionate in intensity or duration to the situation.
• Outbursts occur three times per week or more.
• Between outbursts, mood is persistently irritable, angry, or sad, and
others observe this presentation.
• Symptoms must be present at least 12 months, with no more than a 3-
month absence.
• Onset must be before age 10 years but not before a developmental age
of 6 years.
• At no time has there been a presentation of mania or hypomania lasting
more than 1 day.
IN-DEPTH DIAGNOSIS
Persistent Depressive Disorder (Dysthymia)
Ms. Atkins is a 28-year-old woman whose boyfriend suggested that she seek a psychiatric
evaluation. He told her that she seemed “down most of the time” and that she might be
depressed. During the interview, Ms. Atkins reveals depressed mood “for as long as I can
remember.” On more detailed questioning, she dates the onset of her depression to about age 8.
She denies anhedonia; she is active in recreational athletics and continues to enjoy them as well
as other social activities. Some days are better than others, although she indicates that depressed
mood is present more days than not. She also reports generally low self-esteem and low energy.
Sometimes she has difficulty making decisions and struggles with overeating. Her family history
is remarkable for the death of her mother when Ms. Atkins was 7 years old. She reports that her
father raised her and she describes him as “usually depressed.” She notes that it was at about age
8 when she fully grasped that her mother was “gone from my life” and that she was thus
different from her peers in a way that caused her to feel deficient. She reports an episode of
major depression in her late teens, which in addition to depressed mood included anhedonia,
suicidal ideation, impaired concentration, and insomnia with early-morning awakenings. The
symptoms lasted for as long as 2 years, but she adds that they had resolved by the time she was
age 20.
Differential Diagnosis
Both major depressive disorder and persistent depressive disorder are
characterized by depressed mood. Differences between the two disorders
may involve number and intensity of symptoms, duration of symptoms,
and/or the specific symptoms themselves. Persistent depressive disorder
diagnosis requires three symptoms, whereas major depressive disorder
diagnosis requires at least five. Major depressive disorder requires that
depressed mood be present “nearly every day,” whereas persistent
depressive disorder requires “more days than not.” Symptoms of major
depressive disorder must be present for a minimum of 2 weeks, whereas the
length of illness in persistent depressive disorder is 2 years for adults and 1
year for children and adolescents. Also, there are some differences in the
symptoms that comprise the two disorders (Table 7–1).
Summary
• Persistent depressive disorder is a chronic disorder in which depressed
mood has been present for at least 2 years.
• The symptoms have been persistent—that is, the individual has not
been free of symptoms for a period longer than 2 months over the
previous 2 years.
• Onset is typically insidious.
• A minimum of three symptoms (depressed mood plus two others) is
required to meet the threshold for diagnosis.
• The vast majority of patients with persistent depressive disorder meet
criteria for major depressive episode sometime in their lives.
IN-DEPTH DIAGNOSIS
Premenstrual Dysphoric Disorder
Ms. Sawyer is a 34-year-old married mother of two children, ages 3 and 5 years. She presents
with complaints of significantly increased irritability that began after the birth of her second
child. She reports that before her first pregnancy, she noticed feeling more sensitive and
frustrated a few days before her period. Once menses began, however, she was quickly “back to
her old self.” The symptoms did not interfere with her schoolwork or relationships, but she
began to notice a pattern over time. Ms. Sawyer’s pregnancies were uneventful; both children are
healthy and she enjoys being a mother. She describes a stable marriage, ample child care, and
support from friends and family. She is confused about what she calls her “Jekyll and Hyde”
personality. Currently, every month she experiences intense “mood swings” that last about 10
days before her menses. She has difficulty sleeping and feels exhausted during the day. She has
trouble concentrating and feels more disorganized than usual. Ms. Sawyer reports being most
upset about the effect that her “monthly personality change” has on her family and her weight.
She becomes extremely irritable and often feels “out of control and overwhelmed.” She finds she
yells at her children over minor things. She craves carbohydrates and gains 1–2 pounds per
month. She is finally relieved of her symptoms 2–3 days after her menstrual flow begins. “It is as
if a toxin leaves my body and then I’m back to my old self again for about 20 days.”
Ms. Sawyer experiences monthly mood changes that begin during the
luteal phase of her menstrual cycle and remit within the first few days after
her menstrual flow begins. She experiences classic premenstrual dysphoric
disorder symptoms, including carbohydrate cravings, irritability, mood
lability, feeling easily overwhelmed, and low frustration tolerance. In
particular, she is most distressed by how irritable she becomes and the
effect this has on her behavior and relationships. Irritability is the most
common symptom of premenstrual dysphoric disorder in U.S. women. Less
well-known premenstrual dysphoric disorder symptoms include cognitive
complaints. Ms. Sawyer has a history of premenstrual symptoms that
worsened after having children. Women with premenstrual symptoms often
report progression to full DSM-5 criteria of premenstrual dysphoric
disorder after childbirth.
Differential Diagnosis
The symptoms of premenstrual dysphoric disorder are more severe and
debilitating than those of premenstrual syndrome, although both are
associated with hormonal changes in the menstrual cycle. Premenstrual
dysphoric disorder has a short, fluctuating course that differs from the
chronic symptoms of persistent depressive disorder. Several other disorders
share similar symptoms with premenstrual dysphoric disorder. In major
depressive disorder, the depressed mood or anhedonia—for a total of at
least five symptoms of depression—lasts for at least 2 weeks and is not
specifically associated with a particular menstrual phase. The most
commonly reported symptom in premenstrual dysphoric disorder is mood
lability and irritability, whereas in major depressive disorder depressed
mood and diminished interest or pleasure are most prominent. The fact that
the mood cycling in cyclothymia generally does not follow a regular
menstrual pattern is a critical differential diagnostic criterion. The cyclical
irritability with distractibility and sleep disturbance can resemble
premenstrual dysphoric disorder, but premenstrual dysphoric disorder is not
characterized by increased goal-directed activity, grandiosity, or pressured
speech. Both premenstrual dysphoric disorder and binge-eating disorder are
characterized by increased consumption of food (often carbohydrates), and
although binge-eating disorder may increase in the luteal phase in some
women, it is not confined to the luteal phase.
It is not uncommon for women with premenstrual dysphoric disorder to
have a history of mood disorder or other psychiatric disorders. Mood and
behavioral symptoms in affective or other psychiatric disorders may
increase during the luteal phase (“premenstrual exacerbation”), but they do
not remit around the onset of menstruation. Comorbid disorders such as a
substance use disorder may exacerbate symptoms of premenstrual
dysphoric disorder.
See DSM-5 for additional disorders to consider in the differential
diagnosis. Also refer to the discussions of comorbidity and differential
diagnosis in their respective sections of DSM-5.
Summary
• Premenstrual dysphoric disorder is a cyclical mood disorder that occurs
in women during reproductive age.
• Mood lability, irritability, and depressive symptoms begin after
ovulation and remit or lessen in the early follicular phase of the
menstrual cycle each month.
• Significant distress is associated with symptoms.
• Symptoms increase with stress, lack of exercise, and alcohol
consumption; after childbirth; during menopause transition; and, in
some women, with oral contraceptive use.
SUMMARY
Depressive Disorders
The disorders grouped under depressive disorders in DSM-5 present
considerable heterogeneity in onset, chronicity, and symptom presentation.
Major depressive disorder and persistent depressive disorder have the
greatest overlap in symptoms; both feature depressed mood, with
differences in onset, intensity, and persistence. Persistent depressive
disorder is by definition a chronic disorder. Major depressive disorder,
though requiring sustained symptoms for 2 weeks, can become chronic.
Most patients with chronic major depression likely meet criteria for
persistent depressive disorder. Premenstrual dysphoric disorder may or may
not manifest with depressed mood; anxiety, irritability, and mood lability
may manifest as key features of the disorder. Disruptive mood
dysregulation disorder, which is characterized by chronic and severe
irritability, including frequent and developmentally inappropriate temper
outbursts and angry mood, is the only one of these disorders that is
specifically a disorder of childhood, with an onset between ages 6 and 10.
However, major depressive disorder and persistent depressive disorder may
manifest during childhood.
Diagnostic Pearls
• This diagnostic class includes disorders with a chief feature of
anhedonia (major depressive disorder) or depressed mood (major
depressive disorder, persistent depressive disorder, premenstrual
dysphoric disorder), as well as affective lability (premenstrual
dysphoric disorder) and irritability (premenstrual dysphoric
disorder, disruptive mood dysregulation disorder).
• Symptoms attributable to major depressive disorder must be
distinguished from those caused by specific medical conditions
(e.g., reduced energy in people with untreated thyroid illness,
weight loss in people with untreated diabetes, fatigue with cancer).
• Major depressive disorder is also a feature of bipolar disorder in
children or adults. A single episode of mania or hypomania
triggers a diagnosis of bipolar disorder, rather than major
depressive disorder; therefore, ruling out mania is critical for
making a diagnosis of major depressive disorder.
• Persistent depressive disorder may manifest with symptoms that
are less severe and intense than symptoms of major depressive
disorder. However, the vast majority of people with persistent
depressive disorder meet criteria for major depressive disorder at
some point during their lives. Diagnosis of persistent depressive
disorder includes specifiers designed to describe its relationship to
major depressive disorder over the previous 2-year period.
• Symptoms of premenstrual dysphoric disorder must be minimal or
absent in the week postmenses.
• The onset of disruptive mood dysregulation disorder must occur
by age 10 years.
Self-Assessment
• Anhedonia
• Mood lability
• Symptom peak
• Excessive or inappropriate guilt
• Severe, persistent irritability
• Recurrent thoughts of death/suicidal ideation
• Insidious onset
• Early versus late onset
• Symptom-free follicular phase
Case-Based Questions
PART A
Ms. Frank is a 24-year-old woman whose internist refers her to a psychiatrist for treatment of
depression. Her medical workup was negative. She reports that she has suffered symptoms of
depressed mood for “many years” but that her mood problems exacerbated 3 months ago, when
she was fired from her job. Since then, she has developed severe insomnia, awakening several
hours earlier than is normal for her without being able to go back to sleep. She has experienced
difficulty in enjoying activities such as social gatherings and church functions, which she
previously looked forward to. She experiences reduced energy, her ability to concentrate has
worsened, she feels worthless, and she now has thoughts of ending her life, although she does
not have a specific plan. She has never before sought treatment or a psychiatric evaluation. The
psychiatrist asks her about symptoms of mania and/or hypomania, and these are ruled out.
Given this information, does Ms. Frank meet criteria for a major
depressive episode? Ms. Frank does meet criteria for a major depressive
episode, with both depressed mood and anhedonia, plus insomnia,
diminished energy, impaired concentration, feelings of worthlessness, and
suicidal ideation. This specific episode of major depressive disorder began
after she lost her job 3 months ago. There is no evidence that the episode of
major depressive disorder is related to bipolar disorder, and her symptoms
are not attributable to other medical illness. However, the fact that she
reports having had chronically depressed mood for many years before the
onset of major depression causes the psychiatrist to ask questions that
would establish whether the major depression might be superimposed on
persistent depressive disorder.
PART B
The psychiatrist asks more specifically how long Ms. Frank experienced depressed mood before
the onset of the major depressive episode. She is able to recall that the depressed mood began
when she was a junior in high school and she experienced various social difficulties, including
some rejections. She reports that along with the depressed mood, she also experienced difficulty
concentrating and low self-esteem, and that although these symptoms were chronic, the
insomnia, anhedonia, and suicidal ideas were not present before the last 3 months.
Short-Answer Questions
1. What is the minimum duration of the symptoms to meet criteria for
major depressive disorder?
2. What is the minimum duration of symptoms for adults to meet criteria
for persistent depressive disorder?
3. What is the minimum duration of symptoms for children and
adolescents to meet criteria for persistent depressive disorder?
4. Define early onset and late onset for persistent depressive disorder.
5. What is the fewest number of symptoms necessary for a diagnosis of
persistent depressive disorder?
6. In disruptive mood dysregulation disorder, onset must be before what
age in a child?
7. How frequent must temper outbursts be to meet criteria for disruptive
mood dysregulation disorder?
8. How long must temper outbursts have been present to meet criteria for
disruptive mood dysregulation disorder?
9. Name the four hallmark symptoms of premenstrual dysphoric disorder;
that is, the four symptoms of which at least one must be present to meet
criteria for the diagnosis.
10. Describe the course of key symptoms of premenstrual dysphoric
disorder during the menstrual cycle.
Answers
1. The minimum duration of the symptoms is 2 weeks to meet criteria
for major depressive disorder.
2. Two years is the minimum duration of symptoms for adults to meet
criteria for persistent depressive disorder.
3. One year is the minimum duration of symptoms for children and
adolescents to meet criteria for persistent depressive disorder.
4. In persistent depressive disorder, early onset occurs before age 21 and
late onset occurs at age 21 or older.
5. At least three symptoms are necessary for a diagnosis of persistent
depressive disorder.
6. Onset of disruptive mood dysregulation disorder must be before age
10 years.
7. Temper outbursts must occur an average of three or more times
weekly to meet criteria for disruptive mood dysregulation disorder.
8. Temper outbursts must have been present for at least 12 months to
meet criteria for disruptive mood dysregulation disorder.
9. Mood lability, irritability, dysphoria, and anxiety are the hallmark
symptoms of premenstrual dysphoric disorder.
10. In premenstrual dysphoric disorder, symptoms manifest in the final
week before the onset of menses, improve after the onset of menses,
and are minimal or absent in the week postmenses.
8
Anxiety Disorders
Alan K. Louie, M.D.
Laura Weiss Roberts, M.D., M.A.
“My heart suddenly goes so fast that I can’t breathe, but my doctor can’t
find anything wrong.”
IN-DEPTH DIAGNOSIS
Panic Attack and Panic Disorder
Ms. Brown, a 20-year-old female soldier, presents to a military hospital complaining of “feeling
like my heart is pounding” and “feeling out of breath.” She is trembling and extremely scared
about what is wrong with her body. She remarks that she has never had any “nervous problems.”
The doctor runs several tests and then tells her that she is medically fine. Ms. Brown has recently
been deployed and has been away from her hometown. She has not yet been in combat, and she
has not been exposed to any traumatic experiences. The symptoms came upon her rather quickly,
and to her surprise, while on duty. She remarks that she cannot understand how this could be
happening to her because she is in excellent shape, having just finished boot camp. She has not
had problems with anxiety before and generally has not thought of herself as an excessively
anxious person. She does not use alcohol or other substances or take substances/medications that
may cause anxiety. She denies having homicidal and/or suicidal ideation, intent, and/or plans.
The patient describes symptoms that may meet criteria for panic attacks;
the patient apparently has had several attacks and some have been without
warning. They are extreme, sudden in onset, and hit the highest point in
minutes. The interviewer ascertains if the patient has begun to frequently
have concern about when the next panic attack will strike or what will
happen to the patient during an attack. The interviewer also wants to know
if the patient is avoiding going places due to the panic attacks. The
interviewer will want to find out how long these types of symptoms have
been present subsequent to a panic attack. A medical workup, alcohol and
other substance use histories, and histories relevant to suicide and homicide
should be obtained. Referral to psychiatry should be considered.
Differential Diagnosis
The differential diagnosis of panic disorder is quite broad because the
hallmark of panic disorder is having panic attacks, which may occur in the
context of many other disorders. Possible diagnoses may be divided into
nonpsychiatric and psychiatric disorders. The former include several
general medical disorders (e.g., cardiac arrhythmias, asthma), which
necessitate appropriate medical workup. Panic attacks may also be seen in
many psychiatric disorders, such as other anxiety disorders. If the panic
attacks occur only in relation to symptoms of another anxiety disorder, then
the other anxiety disorder is given diagnostic priority. For instance, if panic
attacks happen solely in social circumstances that induce fear due to social
anxiety disorder, then the diagnosis of social anxiety disorder takes priority;
panic attacks might be used as a specifier, and the diagnosis of panic
disorder would not be recorded. In other words, these are expected panic
attacks in social circumstances in a patient with social anxiety disorder.
In cases of comorbid panic disorder and another disorder that may be
associated with panic attacks, the clinician would look for evidence of at
least some panic attacks that are not restricted to the context of the other
disorder, that are unexpected, and that are attributable solely to the panic
disorder. This pattern is important because panic disorder is highly
comorbid with several disorders, such as other anxiety disorders, major
depressive disorder, and bipolar disorder.
As noted in DSM-5, agoraphobia may develop after panic attacks and
panic disorder, as described by 30% of people with agoraphobia in
community samples and at least 50% of those in clinical samples.
Conversely, panic disorder may appear to follow agoraphobia in other
cases. Agoraphobia is usually a long-lasting and debilitating condition.
See DSM-5 for additional disorders to consider in the differential
diagnosis. Also refer to the discussions of comorbidity and differential
diagnosis in their respective sections of DSM-5.
Summary
• When clinically significant anxiety symptoms are present, the clinician
should determine whether the symptoms meet criteria for panic attacks
and with which disorders these panic attacks might be associated.
• If panic attacks are present and some occur repeatedly and without
warning, then the clinician should evaluate for panic disorder, including
the patient’s trepidation about subsequent panic attacks and behaviors
to avoid panic attacks.
• A careful history going back to the first anxiety symptoms should be
taken to assess the frequency and natural course of the symptoms.
• The differential diagnosis of panic disorder includes the careful ruling
out of a wide range of psychiatric disorders (including other anxiety
disorders and substance use disorders) and general medical conditions.
IN-DEPTH DIAGNOSIS
Social Anxiety Disorder (Social Phobia)
James, a 14-year-old Hispanic male, is seen for an outpatient evaluation at a pediatric clinic in
the southeastern United States. He has consistently been very anxious when interacting with
others. His parents encourage him to “hang out” with kids in their neighborhood, but he cannot
make himself do this. Every social circumstance feels overwhelming to him, even if his parents
are with him. During the evaluation, he does not have any problems with speaking. He wants to
participate in high school activities and to go out with friends, but he has not pursued any of
these activities for fear that he will make a fool of himself and become embarrassed. He says that
he thinks he will not be seen as “macho”—he wants to be “machismo”—but thinks he will be
teased for being “nervous” instead. He says he cannot be “in public.” He mainly stays at home,
surfs the Internet, and does his homework. He aspires to go to a professional school of some sort,
but recently he has begun to worry about whether he can even finish high school because of his
nervousness. He denies any physical symptoms, and his recent medical workup was normal. He
does not use alcohol or other substances and does not take substances/medications that may
cause anxiety. He denies having homicidal and/or suicidal ideation, intent, and/or plans.
Mr. Andrews began to have difficulties with anxiety early in life. His
social anxiety had a gradual onset, as in many cases; in contrast, some
people will report a precipitating event, which usually relates to
embarrassment. He appears to have suffered chronic symptoms of social
anxiety disorder ever since his youth, and these symptoms are still limiting
his lifestyle. He very much wishes to have friends, so he is finding that the
anxiety clearly is causing problems in his life. In social circumstances, he
says that he intentionally drinks alcohol to lessen his social anxiety. He is
having trouble stopping his drinking and needs to be assessed for
alcoholism; consultation with an addiction psychiatrist should be
considered. Some patients may appear to use alcohol and/or other
substances to manage their social anxiety disorder. The clinician should
explore whether the use of a telemedicine connection helps or hinders the
interview for this socially anxious patient. The issue of stigma and the
influences of rural culture and racial/ethnic identity need to be addressed.
Differential Diagnosis
DSM-5 includes many disorders in the section on differential diagnosis of
social anxiety disorder. Several disorders manifest with anxiety symptoms
in social circumstances. Social anxiety disorder may be parsed out by
determining whether fear about potential assessment and disapproval is the
primary reason for these symptoms. If present, the fear of disapproval
requires examination. Such a fear may be part of normative bashfulness,
often without clear impact on functioning. Concern with disapproval may
indicate poor self-esteem and a major depressive disorder; in such cases,
other symptoms of depression should also be present. The social anxiety
disorder diagnosis is most clear when extreme fear of social assessment is
central and perhaps the only symptom, occurring when exposed to potential
assessment.
Many patients do experience social anxiety disorder along with other
disorders. In some instances, these co-occurring disorders (e.g., major
depressive disorder, substance use disorder) appear after the onset of social
anxiety disorder. The relationship between avoidant personality disorder
and social anxiety disorder is more complicated because of their common
symptomatology.
See DSM-5 for additional disorders to consider in the differential
diagnosis. Also refer to the discussions of comorbidity and differential
diagnosis in their respective sections of DSM-5.
Summary
• Individuals with social anxiety disorder fear assessment and
disapproval in social situations.
• Social anxiety disorder often starts before adulthood; initial onset in
adulthood is uncommon.
• Social anxiety disorder can result in significant dysfunction.
• Social anxiety disorder must be differentiated from several psychiatric
disorders that have an impact on socialization. Additionally, it must be
separated from normative bashfulness and avoidant personality
disorder.
• Social anxiety disorder may be comorbid with a number of other
disorders.
IN-DEPTH DIAGNOSIS
Generalized Anxiety Disorder
Ms. Armstrong, a 35-year-old woman, is being seen in a medical clinic on a military base in the
southern United States. Her husband is an active-duty serviceman. She tells her primary care
physician about muscle aches and tension that inhibit her from doing many activities. Later, she
also admits to worrying “day and night.” She has been this way since adolescence and had
assumed that everyone felt this way until her friends began to point out that she is a “worrier.”
She worries about anything that comes up in her daily life, and as soon as one thing turns out
okay, she will move on to worry about something else. She denies symptoms of other types of
anxiety disorders. She does not take substances/medications that may cause anxiety and does not
use alcohol or other substances. She denies having homicidal and/or suicidal ideation, intent,
and/or plans. A complete medical workup was normal, and the symptoms do not appear to be
caused by a medical condition or a side effect of a medication.
After determining that she has no medical issues to produce her muscle
aches and tension, the primary care physician explores whether these
physical symptoms might be associated with an anxiety disorder. This line
of questioning leads the patient to reveal that she has been a “lifelong
worrier” and that her friends notice that she is always worrying. It is a way
of life for her. Worry is ever present, associated with one life task after
another, and wears her down with muscle tension and always being vigilant
for peril. Further psychiatric evaluation should investigate whether she
meets the full criteria for generalized anxiety disorder. The presence of a
comorbid major depressive disorder should be considered. The influences
of both southern and military family cultures on the perception of
symptoms in this case should be explored. Referral to psychiatry should be
considered.
Summary
• In generalized anxiety disorder, the symptoms picture emphasizes
worrying of a pervasive nature about multiple issues and areas of daily
life.
• Worrying is associated with certain specified symptoms (see DSM-5
criteria for generalized anxiety disorder).
• Commonly, the symptoms are chronic and not acute.
• Worrying is so frequent in both normal and pathological states that the
diagnosis of generalized anxiety disorder should not be made unless its
symptoms clearly depart from normal levels and cause dysfunction.
• Generalized anxiety disorder is often comorbid with mood disorders.
SUMMARY
Anxiety Disorders
Anxiety is ubiquitous—at times the experience of anxiety is expected and
adaptive, and at other times the experience of anxiety can be pathological.
The diagnostic class of anxiety disorders includes disorders with fear, panic
attacks, worry, and/or anxiety, and may include behaviors to avoid these
states. This grouping suggests some commonality across these disorders,
which in DSM-5 are considered distinct from obsessive-compulsive
disorder and posttraumatic stress disorder. Despite these commonalities
among the disorders in this diagnostic class, they are certainly
heterogeneous, for example with regard to age at onset. Some disorders in
this class are relatively common, and all can cause significant suffering and
impact on the person’s life, along with an increased risk of suicide attempt
and ideation in some.
Diagnostic Pearls
• The anxiety disorders diagnostic class includes disorders with
prominent symptoms of fear, panic attacks, worry, and/or anxiety.
In DSM-5, some disorders with similar symptoms (e.g., obsessive-
compulsive disorder, posttraumatic stress disorder) are seen as
diagnostically separate from this class and have been put in other
classes.
• In separation anxiety disorder, specific phobia, social anxiety
disorder, and agoraphobia, different entities or circumstances
external to the individual bring on symptoms of fear and/or
anxiety.
• In panic disorder, bouts of fear (panic attacks) occur repeatedly
and unpredictably (without clear external cause).
• In many of these disorders, individuals frequently develop
behaviors to avoid entities or circumstances that they associate
with anxiety symptoms (e.g., staying away from social occasions).
• In generalized anxiety disorder, a core symptom is worrying,
described in DSM-5 as “apprehensive expectation,” about several
issues and areas of daily living.
• Among anxiety disorders, separation anxiety disorder is the most
common one in people under age 12 years.
• In selective mutism, the person does not speak in certain social
circumstances, even though his or her speech is quite normal
otherwise, for instance at home with family members.
• A necessary consideration is whether the symptoms of anxiety
disorders may be caused by substances/medications or be due to
another medical condition; each possibility has its own diagnostic
code in DSM-5.
Self-Assessment
• Agoraphobic situations
• Avoidance behaviors
• Excessive worry
• Performance only
• Phobic objects and situations
• Public scrutiny and negative evaluation
• Recurrent and unexpected panic attacks
• Restlessness and muscle tension
• Selective mutism
• Worries about panic attacks
Case-Based Questions
PART A
Ms. Butler, a 36-year-old woman, describes having had anxiety problems for over 10 years that
have progressively worsened, and for which she has never received treatment. She is so
“nervous” that she does not go out of her house. She has meals delivered to her and cannot visit
her doctor. She has never been able to work. Her family doctor makes a home visit to her in a
rural area of the Pacific Northwest. She tells him, “I worry all the time, and I have anxiety that
lasts all day long.” Her current medical workup is normal. She denies using alcohol or any other
substances or taking any substances/medications that may cause anxiety. She denies having
homicidal and/or suicidal ideation, intent, and/or plans. Her family doctor has asked her to see a
psychiatrist.
Assuming she has one or more anxiety disorder(s), what are reasons
why she does not leave the house? With the limited history obtained at
this point, the clinician might think of a variety of reasons for her not
leaving the house, including having agoraphobia, being afraid of having
panic attacks away from home, or fearing social anxiety if she encounters
people.
PART B
Ms. Butler says she does not leave the house because she fears having a panic attack outside the
house when she is by herself. Further discussion reveals that she meets DSM-5 criteria for panic
disorder. Even at home, she worries all the time.
Answers
1. The duration must be 6 months in adults for these diagnoses.
2. The rank order for age at onset is as follows: specific phobia (7–11
years median)<social anxiety disorder (13 years median)<panic
disorder (20–24 years median).
3. Panic attacks required in panic disorder are repeated and unpredicted.
4. Symptoms of a panic attack peak usually within a few minutes.
5. People with social anxiety disorder fear possible assessment and
disapproval by others.
6. Worrying is a key feature of generalized anxiety disorder.
7. Individuals with separation anxiety disorder fear being disconnected
from a person to whom they are close, whereas people with
agoraphobia fear being where they will not be able to flee or get help.
8. The following are examples of substances that may be associated with
substance-induced anxiety disorder: intoxication from alcohol,
cocaine, caffeine, cannabis, hallucinogens, inhalants, and
phencyclidine; or withdrawal from alcohol, opioids, cocaine, and
sedatives, hypnotics, or anxiolytics.
9. A diagnosis of panic disorder is related to a greater risk of suicide
attempts and suicidal ideation.
10. Yes. Not uncommonly, patients with social anxiety disorder may also
meet criteria for other DSM-5 disorders, such as substance use
disorders and major depressive disorder.
9
“His hands are raw because he washes his hands so many times during the
day.”
IN-DEPTH DIAGNOSIS
Obsessive-Compulsive Disorder
Ms. Hansen is a 35-year-old single woman who works as a university librarian. She presents to
her first psychotherapy visit for help with intrusive thoughts focused on a form of contamination
fear that she has struggled with since her early 20s. Back then, for no apparent reason, Ms.
Hansen began worrying that the water supply in the house she shared with her three college
roommates became contaminated by the sewer system. As a result, she started having trouble
drinking the water at her house and started avoiding using the bathroom for fear she might
worsen the problem and contaminate her housemates’ potable water. Since then, this concern has
forced Ms. Hansen to relocate numerous times, but each move would only give her a brief
respite before her fears recurred, typically a few months after each move, causing significant
anxiety and prompting yet another relocation. Over the years, Ms. Hansen has sought
reassurance through numerous expensive consultations and inspections with plumbers,
architects, and general contractors, as well as several laboratory tests meant to test water quality.
None of these measures, however, provided sustained relief.
Ms. Hansen currently spends 3 hours per day worrying about cross-contamination between
the clean water and waste systems in her house, or seeking reassurance that the two have not
become somehow linked. She blames her preoccupation with this problem on her limited social
life and absence of romantic relationships. Except for moderate depression that typically follows
each move, Ms. Hansen has not suffered from other psychiatric symptoms, including tics. She
has been physically healthy all her life. She drinks alcohol rarely and has never used other
substances. When asked by her new therapist to describe the problem that caused her to seek
help, Ms. Hansen gives this preface to her answer: “I know this is crazy and makes absolutely no
sense, but I can’t help worrying about it.”
Based on this brief history, Ms. Hansen would appear to meet the DSM-
5 criteria for OCD. She has recurrent, bothersome, intrusive thoughts
focused on contamination fears (the obsession) and multiple attempts at
obtaining reassurance through inspections and laboratory tests (the
compulsion). Her life has been significantly affected as a direct result of her
symptoms: The multiple moves have undoubtedly created much instability
for Ms. Hansen, and her time-consuming preoccupations and self-
reassuring actions have precluded a meaningful social or romantic life. In
light of the fact that she has no other physical, psychiatric, or substance use
problems that might explain her symptoms, her presentation cannot be
attributed to causes other than OCD. Moreover, despite her inability to
control her symptoms on her own, Ms. Hansen clearly realizes the
irrationality of her symptoms. As such, she would be characterized as
having “good insight” into her condition.
Differential Diagnosis
OCD has been described as an anxiety disorder, and other anxiety disorders
should be explored when an OCD diagnosis is being considered in a person
who has significant worry about a particular trigger or who seeks the
temporary calming effects of performing a ritual. For example, anxious
avoidance of a specific location may not be provoked by OCD superstitions
associated with it, but rather may result from posttraumatic stress disorder
that has linked the place with a trauma in the person’s history.
The particular nature of the obsession or compulsion can also point to
other diagnostic possibilities. For example, in someone with rigid eating
patterns as a result, perhaps, of a perceived hypersensitivity to a food
ingredient, an eating disorder might be the more appropriate diagnosis. In
the case of a socially withdrawn child with below-average IQ, peculiar
interests, and some repetitive motor behaviors, an autism spectrum disorder
might better explain the observed deficits. Similarly, in an individual with
unrelenting, unnecessary checking of e-mail and social networking accounts
but no other checking behaviors, compulsions, or obsessions, some
pathological relationship with the digital world might best fit the clinical
picture. Also, individuals with rigidly defined ways of performing tasks,
who are convinced they are right, want others to adopt their patterns, and
see no problem with their set ways, might be more appropriately diagnosed
with obsessive-compulsive personality disorder rather than OCD. Finally, in
individuals who tend to derive a pleasure or thrill from a repetitive act (e.g.,
skin picking, hair pulling, pathological gambling) as opposed to a
temporary reduction in anxiety, the somewhat “ego-syntonic” nature of the
behavior might point to a diagnosis of a behavioral addiction or impulse-
control disorder rather than OCD.
Because the individual symptoms of OCD can be so variable and
partially overlap with several other diagnostic categories, a broad
differential diagnosis should be entertained when approaching an individual
with suspected OCD, and the diagnosis of OCD should be made only after
other candidate conditions have been ruled out.
See DSM-5 for additional disorders to consider in the differential
diagnosis. Also refer to the discussions of comorbidity and differential
diagnosis in their respective sections of DSM-5.
Summary
• OCD is a common, often disabling condition that can manifest with a
great variety of obsessions or compulsions that typically fall under a
limited number of themes.
• Many individuals describe performing some repetitive behaviors or
having obsession-like thoughts, images, or urges. A diagnosis of OCD
can be made only if symptoms are consuming and result in significant
impairment.
• A careful history should be taken to assess the natural course of the
symptoms, the context within which they occur, and the resulting
consequences and complications.
• Making the diagnosis of OCD requires the careful ruling out of a wide
range of psychiatric and other disorders that can masquerade as OCD.
IN-DEPTH DIAGNOSIS
Body Dysmorphic Disorder
Ms. Thompson is a 28-year-old married woman and former high school teacher. At age 22,
following her parents’ surprising divorce, she started worrying that her face was asymmetrical.
More specifically, she felt that the left side of her jaw was higher than the right one by about a
half inch. Ms. Thompson had sustained no injury and had no malformation that might explain
this “defect.” Shame over her appearance led to drastic efforts to hide the perceived asymmetry,
including creative hairstyling and the use of scarves to partially cover her cheeks. When no
technique worked, Ms. Thompson left her teaching job, convinced that her students were
mocking her appearance, and gradually withdrew from social interactions. Reassurances by her
husband that her jawline was entirely normal did not allay her anxiety, and neither did several
professional consultations with dentists. Eventually, Ms. Thompson started researching oral
surgeons in the hopes of finding one who could rid her of this problem by operating on her jaw.
Ms. Thompson exhibits no other psychiatric symptomatology, including any concerns about
body weight or body fat composition. She has no history of medical conditions and does not use
substances. She does see herself as debilitated by her symptoms but does not view the cause as
psychiatric. Instead, Ms. Thompson is convinced that a jaw malformation, treatable by surgery,
is at its root.
Differential Diagnosis
In a society that is often described as obsessed with appearances, it is
important to differentiate people’s normal, culture-concordant worries about
their looks from the pathological preoccupation of body dysmorphic
disorder. For the diagnosis of body dysmorphic disorder to be made, the
worry has to be excessive and produce clinically significant impairment in
functioning. Furthermore, if a physical defect is clearly noticeable or
disfiguring, the worry it generates cannot be attributed to body dysmorphic
disorder.
The intrusive appearance-based thoughts of body dysmorphic disorder,
and the repetitive mirror checking, grooming, or reassurance seeking that
often go with them, are reminiscent of other obsessive-compulsive and
related disorders, such as excoriation disorder or trichotillomania. When
skin picking or hair plucking is intended as a grooming behavior meant to
correct a perceived defect, a diagnosis of body dysmorphic disorder is more
appropriate. The typically poorer insight seen in body dysmorphic disorder
and the narrower fixation on appearance help distinguish it from OCD.
Similarly, in a person with an eating disorder, worries about being fat
are more likely to be part of the eating disorder, although an eating disorder
can be comorbid with body dysmorphic disorder.
Also, the poor or absent insight seen in some patients with body
dysmorphic disorder can reach a delusional degree. However, the focus on
appearance and the absence of disorganized thinking or hallucinations help
distinguish body dysmorphic disorder from a primary psychotic illness.
See DSM-5 for additional disorders to consider in the differential
diagnosis. Also refer to the discussions of comorbidity and differential
diagnosis in their respective sections of DSM-5.
Summary
• Body dysmorphic disorder is an often-disabling condition characterized
by a preoccupation with a nonexistent or slight body defect, repetitive
actions or thoughts meant to reduce the associated anxiety, and variable
degrees of insight into the psychic roots of the illness.
• The cultural message to meet certain narrow beauty standards is strong
and inescapable. Patients with body dysmorphic disorder have an
appearance-derived anxiety that far exceeds society’s “epidemic” of
unease with one’s body image.
• A careful history is needed to assess the natural course of symptoms,
their larger context, the resulting consequences (including depression
and social withdrawal), and any complications (e.g., from personal
attempts at correcting “defects” or from unnecessary dermatological or
surgical interventions).
• Making the diagnosis of body dysmorphic disorder requires the careful
ruling out of a wide range of psychiatric and other disorders, including
OCD, eating disorders, and psychotic illnesses.
IN-DEPTH DIAGNOSIS
Trichotillomania (Hair-Pulling Disorder)
Ms. Lewis is a 28-year-old woman currently working on a doctorate in English literature. She
has a 12-year history of hair pulling from her scalp and eyebrows that has waxed and waned over
the years but has become progressively worse since she began working on her dissertation and
studying for her comprehensive exams 3 months ago. Her first episode of hair pulling occurred
at age 16, when she first began tweezing her eyebrow hairs for aesthetic purposes. She
remembers continuing to pull from her right eyebrow well beyond what was aesthetically
justifiable and recalls enjoying the feeling that followed plucking each hair. The initial
pleasurable experience, however, was followed by shame and embarrassment, because she had
to use makeup to conceal the patch of missing hair. This initial experience was followed by
similar, sporadic episodes of right eyebrow hair plucking, usually using her right thumb and
index fingers and most often during times of stress or other intense emotional experiences.
Over time, Ms. Lewis began pulling hair from both eyebrows and her scalp. When her
parents eventually noticed the patches of missing hair, they took Ms. Lewis for evaluations with
her pediatrician and a dermatologist, who determined that the hair pulling was not the result of
an undiagnosed skin or other medical condition. Numerous therapists unsuccessfully focused on
Ms. Lewis’s “lack of self-control” and questioned whether she had body image issues for which
she was attempting to compensate. Currently, Ms. Lewis has a small bald spot on the vertex of
her head that she attempts to hide by pulling her hair back. She no longer goes to her usual hair
salon because she fears she would have to explain her bald patch to her hairstylist or hear a
lecture on how she is intentionally damaging her hair.
Although she has attempted to stop the behavior on numerous occasions, she has never been
able to maintain complete cessation for more than a few weeks. She currently engages in hair
pulling from her eyebrows or scalp for at least 1.5–2 hours each day, with an average of 50 hairs
pulled daily. She finds that she is engaging in pulling with little awareness, usually when
engrossed in reading for her comprehensive exams or when staring at her computer screen while
working on her dissertation. In addition, Ms. Lewis reports that she has been “playing” with the
pulled hairs. Previously, Ms. Lewis would immediately discard the pulled hairs. Now, she finds
herself either “rolling” the hair between her fingers after pulling it or chewing on the root bulb.
She states that she does not know exactly why she started playing with the pulled hairs but
reports significant shame about these new behaviors. Because she does not want people to notice
her bald spots, Ms. Lewis has been spending less time with friends, even though she
acknowledges that social support would help mitigate her stress. She has also discontinued
swimming, because she finds it difficult to hide the bald spot on her head when her hair is wet.
Without the outlet of exercise and social activities, Ms. Lewis’s mood has become increasingly
depressed, which she believes further exacerbates her hair pulling and decreases her motivation
to engage in alternative behaviors.
Ms. Lewis appears to meet DSM-5 criteria for trichotillomania. Her hair
pulling has had a chronic course since onset, although the location and
function of her pulling has changed over time. She repeatedly engages in
pulling hair from her eyebrows and scalp despite efforts to control the
behavior. She no longer finds the effects of pulling pleasurable, does not
pull for purposes of correcting perceived imperfections, and most often
engages in the behavior with little awareness. She is experiencing
significant distress from her inability to control her hair pulling and from
the effects the ongoing behavior is having on her physical appearance and
life, and she endorses depressed mood, social withdrawal, shame, and
embarrassment—all stemming from her pulling. Medical and
dermatological evaluations suggest that Ms. Lewis’s pulling behavior is not
attributable to a medical condition. Furthermore, no other DSM-5 disorder
would better explain this presentation.
Ms. Lowe expresses an initial concern that her therapist will be critical
of her hair pulling and judge her for not exercising better self-control. The
therapist empathizes with how difficult it is to live with this disorder and
acknowledges that the patient has probably tried everything in her power to
stop pulling her hair. By taking an empathic and nonjudgmental approach,
the therapist is able to gain the information necessary to make an accurate
diagnosis by helping the patient to feel understood and supported and
allowing her to be fully open regarding the specifics of her disorder. In
addition, by developing rapport and assessing for behaviors that Ms. Lowe
did not initially reveal, the therapist is able to get a thorough view of the
extent of Ms. Lowe’s hair pulling, including behaviors that put her at risk
for possible medical problems (e.g., consuming hair).
Tips for Clarifying the Diagnosis
• Assess the frequency and location(s) of hair-pulling behaviors,
including locations that may be embarrassing for individuals to discuss.
• Assess the function of the hair pulling. Does the pulling largely occur
outside of awareness or feel out of control and serve the purpose of
regulating an uncomfortable sensation or emotion? Does the pulling
coincide with a preoccupation with the person’s appearance and serve
the purpose of correcting a perceived imperfection? Does the function
of the hair pulling suggest that it may be better accounted for by
another disorder, such as body dysmorphic disorder or OCD?
• Assess the ways in which the person has attempted to conceal the
effects of hair pulling, the effect the pulling has had on his or her
health, and the ways in which the behaviors have affected his or her
social and occupational functioning.
• Inquire about what the person does with each hair following removal.
Is each hair immediately discarded, or are the hairs sometimes
consumed?
• Does the person have a medical or dermatological disorder that may
cause hair pulling as a way to alleviate physical discomfort?
Differential Diagnosis
To accurately differentiate trichotillomania from other disorders, it is
necessary to understand the function of the hair-pulling behavior. For
example, hair pulling that is meant to correct a perceived physical
imperfection, such as “ugly” arm hair, may be better accounted for by body
dysmorphic disorder. OCD may better describe hair pulling that functions
as a superstitious ritual (e.g., a person who pulls a hair from the top of his
head whenever he hears the word cancer to prevent becoming sick). Hair
pulling that serves to alleviate a chronic itch, skin irritation, or other
discomfort may suggest a dermatological condition. Finally, hair pulling in
response to a delusion or command auditory hallucination is likely best
explained by a psychotic disorder.
It is important to recognize that behaviors associated with
trichotillomania occur frequently in individuals who do not meet criteria for
this or any other disorder. It is common in many cultures to engage in
normative hair removal for grooming purposes. For example, people may
use tweezers to remove hairs from the eyebrows to improve their
appearance. It is also common for those with longer hair to play with their
hair by twisting, twirling, or tugging it. Such hair-based behaviors do not
point to a pathological condition.
See DSM-5 for additional disorders to consider in the differential
diagnosis. Also refer to the discussions of comorbidity and differential
diagnosis in their respective sections of DSM-5.
Summary
• Trichotillomania is a serious condition characterized by the person’s
repeated pulling of his or her hair that often results in bald spots, hair
damage, and attempts to conceal the consequences.
• Trichotillomania is associated with shame and embarrassment due to
the perception that the person should be able to refrain from self-
inflicted harm to his or her body.
• Trichotillomania can include focused pulling (targeting a hair due to a
tactile sensation or the desire to produce a pleasurable sensation),
automatic pulling (engaging in hair pulling out of the person’s
awareness, usually while engrossed in a specific task), or a
combination.
• A careful assessment is necessary to differentiate pathological hair
pulling from normative grooming and from other psychiatric disorders
that share similar features, such as body dysmorphic disorder and OCD.
SUMMARY
Obsessive-Compulsive and Related Disorders
Like many psychiatric conditions, illnesses grouped in the obsessive-compulsive and related
disorders diagnostic class are extreme manifestations of common, normal experiences. Exactly at
what point repetition, collecting, appearance-focused anxiety, and self-grooming cross into the
pathological and become clinical entities that deserve treatment is a question that mental health
care providers are often called on to answer. This determination requires a deep understanding of
individuals and their lives, along with consideration of empirically defined criteria, such as those
offered in DSM-5, for what constitutes a diagnosis.
Repetition is an important common feature that helps unite the disparate conditions listed in
the obsessive-compulsive and related disorders class—but important differences exist. For
example, the contamination fear and anxious collecting seen in OCD and hoarding disorder are
usually accompanied by a dysphoria and frustration that contrast with the pleasurable feelings
sometimes reported by people with trichotillomania and excoriation disorder. Such distinctions
and other nuances are beyond the scope of this chapter but should be pursued by interested
readers (see “Recommended Readings” at the end of this chapter). More advanced reading will
reveal that these conditions—diagnosable and potentially highly impairing as they are shown to
be here—are also treatable in a large percentage of patients.
Diagnostic Pearls
• Although the obsessive-compulsive and related disorders
diagnostic class is separate from anxiety disorders in DSM-5,
anxiety remains a prominent feature of many conditions within
this class.
• Overlap exists among conditions within the obsessive-compulsive
and related disorders diagnostic class and disorders in other
diagnostic classes. Careful history taking and familiarity with
diagnostic criteria are necessary to clarify the diagnosis.
• The details of individuals’ unusual worries and behaviors are
often embarrassing to them and laden with stigma. An open mind
and empathic approach are needed to put individuals at ease and
maximize diagnostic accuracy and treatment success.
• Information on cultural and familial context should be elicited to
help determine whether a particular concern or behavior is
pathological or within the expected norm for the person being
evaluated.
• There is much misunderstanding within the medical profession
and society at large about obsessive-compulsive and related
disorders. Increasing awareness and psychoeducation are part of
the clinician’s role in addressing these problems.
Self-Assessment
Key Concepts: Double-Check Your Knowledge
What is the relevance of the following concepts to the various obsessive-
compulsive and related disorders?
Case-Based Questions
PART A
Ms. Connor is a 45-year-old woman who works as a business accountant at a software firm.
While still in college at age 20, and for no apparent reason, an anxiety that struck her as peculiar
suddenly hit her: Ms. Connor started worrying that she may have inadvertently stepped on a
baby during her morning jog. She could not say how the baby would have materialized on the
isolated riverside trail where she ran, or how she might have tripped over a baby, but her need to
verify was so intense that she started to follow her jog with a slow-paced hike during which she
would comb the trail for any evidence of her “crime.” As a result of this time-consuming pattern,
Ms. Connor had to miss morning classes, but once the ritual was completed, she could focus on
afternoon lectures and on doing her homework in the evening.
Does Ms. Connor suffer from OCD? Ms. Connor’s symptom can be
described as a repetitive, intrusive thought that she recognizes as unusual
and that involves having inadvertently hurt someone. She has associated
checking behaviors meant to provide reassurance and reduce anxiety. Her
life was negatively affected in that her school performance suffered. This
picture is consistent with a diagnosis of OCD.
PART B
After graduating from college, Ms. Connor stopped jogging because the corporate job she chose
did not accommodate late-morning starts. Two decades later, her more sedentary lifestyle has
contributed to weight gain and early blood pressure problems. However, giving up on running
did not eradicate the compulsions or the anxiety triggering them. Her worry changed over the
years but did not go away. Ms. Connor’s commute today involves a 20-minute drive from home
to work. Depending on her level of anxiety, that trip is sometimes followed by another drive
during which she retraces her route to ascertain that she did not run over a baby on her first
attempt to get to work. On what she calls her “bad days,” she even has to check her tires for
additional reassurance.
What does the evolution of symptoms in this case history so far tell us
about the course of OCD? OCD is often a chronic illness with a waxing
and waning course. Whether the symptoms vary within the same general
theme (as in this example) or take on different themes, individual symptoms
often change. Their toll is cumulative over time, in this case indirectly
contributing to medical problems.
PART C
Throughout her years of struggling with OCD, Ms. Connor was able to raise two healthy
children and draw reasonable satisfaction from work. Until very recently, Ms. Connor had never
sought professional help for her symptoms and says she learned to “adapt” to them, setting aside
a certain amount of time on some days to “calm them down.”
Why did Ms. Connor delay seeking care? Although symptoms of OCD
often manifest early, it is not unusual for individuals to delay treatment or
not seek it at all. Reasons include lack of access to care, embarrassment
about divulging symptoms, the stigma of a psychiatric diagnosis, the ability
in some situations to adapt to the illness, inadequate knowledge of the
pathological nature of the symptoms, and a tendency to view symptoms as
peculiar personality traits.
Short-Answer Questions
1. Are both obsessions and compulsions required for a diagnosis of OCD?
2. Define obsessions in OCD.
3. Define compulsions in OCD.
4. What specifier would the clinician use for the OCD diagnosis in a
person who is totally convinced that his or her fears of catching a very
rare prion illness are well founded and that his or her associated
cleaning rituals to prevent this outcome are entirely legitimate?
5. Would people who are preoccupied with essential body functions (e.g.,
adequate breathing, regular pulse rate, number of bowel movements)
meet criteria for body dysmorphic disorder?
6. Could people who have an actual body defect meet criteria for body
dysmorphic disorder?
7. Could patients have alcohol use disorder and receive a primary
diagnosis of body dysmorphic disorder?
8. What form of body dysmorphic disorder is much more common in
males?
9. Does a person’s excessive twirling of his or her hair along with frequent
massaging of the scalp constitute trichotillomania?
10. An elderly man is having difficulty navigating his home because of
excessive clutter, which creates a risk of falling. He collects and saves
unnecessary things because “he might need them some day.” No other
obsessions or compulsions are evident. What is the most likely
diagnosis?
Answers
1. No. Obsessions and compulsions are not both required for a diagnosis
of OCD.
2. OCD obsessions are recurrent and persistent thoughts, urges, or
images that are experienced, at some time during the disturbance, as
intrusive and unwanted and that cause marked anxiety or distress in
most individuals.
3. OCD compulsions are repetitive behaviors (e.g., hand washing,
ordering, checking) or mental acts (e.g., praying, counting, repeating
words silently) that individuals feel driven to perform in response to
an obsession or according to rules that must be applied rigidly.
4. The individual would be diagnosed with OCD with absent
insight/delusional beliefs.
5. No. These people do not meet criteria for body dysmorphic disorder
unless they are also preoccupied with the appearance of a body part.
6. Yes. People who have an actual body defect can meet criteria for body
dysmorphic disorder, but the defect in question has to be minor and
the preoccupation and distress caused by it disproportionately larger.
7. Yes. A patient can have alcohol use disorder and still receive a
primary diagnosis of body dysmorphic disorder.
8. The muscle dysmorphia form of body dysmorphic disorder (i.e., the
belief that the person’s body build is too small or insufficiently
muscular) is more common in males.
9. No. The criteria for a trichotillomania diagnosis require recurrent hair
pulling with resulting hair loss.
10. The most likely diagnosis is hoarding disorder.
Recommended Readings
Aboujaoude E: Compulsive Acts: A Psychiatrist’s Tales of Ritual and Obsession. Berkeley,
University of California Press, 2008
Koran LM: Obsessive-Compulsive and Related Disorders in Adults: A Comprehensive Clinical
Guide. New York, Cambridge University Press, 1999
10
“I am numb inside.”
IN-DEPTH DIAGNOSIS
Acute Stress Disorder and Posttraumatic Stress
Disorder
Ms. Benitez, a 28-year-old married Hispanic woman who lives with her husband and 3-year-old
daughter, presents to an outpatient mental health clinic with complaints of experiencing a “weird
sensation, like I’m floating and not myself” whenever her husband kisses her. The sensation is so
distressing that she pulls away from her husband, and at times she has even felt nauseated.
During the initial evaluation, the therapist learns that 3 weeks ago, Ms. Benitez had been robbed
by a man who walked up behind her in a parking lot, put a knife to her throat, and demanded her
purse as she was getting into her car. Without turning around, she handed the man her purse.
Upon grabbing the purse, the man licked her cheek, leaving saliva on her face. Since the
incident, she has tried not to think about it and to “put it behind me.” However, she has been
experiencing disturbing dreams about the incident, and there were several times at work when
she was bothered by “seeing the knife in my mind” while she was working on tasks that required
concentration. She does not feel comfortable driving by herself anymore, and she has not gone
back to the store where the incident occurred. She reports sleep disturbance and feels “jumpy all
the time.” Toward the end of the evaluation, she says, “Since that day, I just haven’t been myself.
I don’t have patience with my daughter as I used to. I get angry really fast and just don’t want to
be around people anymore.”
It is not uncommon for individuals who are victims of a violent crime to
want to forget about it and avoid reminders of the incident. Ms. Benitez’s
symptoms are in response to a traumatic event and are within the time
frame (3 days to 1 month) required to meet criteria for acute stress disorder.
If her symptoms continue beyond 1 month, she should be reassessed to
determine if she meets criteria for PTSD. Consistent with clinical
presentation of acute stress disorder, she has a dissociative presentation
(i.e., floating sensation) combined with a strong emotional and
physiological reaction (i.e., pulling away from her husband when kissed and
feeling nauseated) to a reminder of the traumatic event (i.e., being licked).
Being both female and Hispanic increases her risk of acute stress disorder
and PTSD.
Mr. Cooper describes the type and duration of symptoms that are
consistent with PTSD with delayed expression. PTSD is characterized by
the development of particular symptoms following exposure to events that
involve threatened death, actual or threatened injury, or actual or threatened
sexual violence. In this case, Mr. Cooper experienced the threat of injury
and actual injury. The delay of symptoms at least 6 months after the event
(i.e., 8 months in this case) is atypical. Given Mr. Cooper’s complaints of
derealization (e.g., he feels as if he is an actor in a play), it will be important
to evaluate his symptoms for the dissociative subtype that occurs in
individuals who experience high symptom severity. Additionally, it will be
important to evaluate any negative alterations in cognitions and mood
associated with the traumatic event that may need to be addressed in
therapy. Furthermore, Mr. Cooper describes having panic attacks, but the
symptoms to which he is referring are not clear. Therefore, a thorough
evaluation of these symptoms is warranted, and if they occur after exposure
to traumatic reminders, then the PTSD diagnosis is warranted. An
additional diagnosis of panic attacks may be warranted if Mr. Cooper
experiences panic attacks in circumstances other than being reminded of the
traumatic event. According to DSM-5, the 12-month prevalence of PTSD is
higher among adults in the United States than those in Europe and most
Asian, African, and Latin American countries. Moreover, PTSD is higher
among individuals whose jobs increase the risk of traumatic exposure,
which is the case for Mr. Cooper. Thus, Mr. Cooper’s background and work
place him at higher risk for developing PTSD. It is important to note that
symptoms of intrusion vary across human development; as such, young
children may start to experience nightmares that are not specific to the
traumatic event.
Differential Diagnosis
Many life stressors can result in psychiatric symptoms that are acute or
chronic, and not everyone who is exposed to an extreme stressor or
traumatic event will meet all of the criteria for a diagnosis of PTSD or acute
stress disorder. The diagnosis of adjustment disorders is used in these
instances. A patient may be experiencing a high-conflict divorce that
invokes feelings of panic, sleep disturbance, and dissociative symptoms.
Although these symptoms are also found in individuals with PTSD and
acute stress disorder, the event (i.e., divorce) does not meet the diagnostic
criteria for a traumatic event.
Acute stress disorder can be differentiated from PTSD because the
symptoms for acute stress disorder must occur within 4 weeks of the
traumatic event, whereas PTSD is diagnosed when symptoms persist for
longer than 1 month.
Other posttraumatic disorders and conditions should be considered
instead of PTSD if the symptoms are not preceded by trauma exposure.
Also, if the symptoms that occur in response to an extreme stressor meet
criteria for another mental disorder, then the other diagnosis is given instead
of or in addition to PTSD.
In obsessive-compulsive disorder, there are recurrent thoughts similar to
the reexperiencing symptoms in trauma-related disorders; however, the
distinguishing feature is that in obsessive-compulsive disorder, the thoughts
are not related to a traumatic event. Similarly, the arousal and dissociative
symptoms of panic disorder as well as the avoidance, irritability, and
anxiety of generalized anxiety disorder are not associated with a specific
traumatic event. In separation anxiety disorder, the symptoms associated
with separation are not considered to be a traumatic event.
Major depression can be preceded by a traumatic event and should be
diagnosed if other PTSD symptoms are absent. Importantly, major
depressive disorder does not include Criterion B or C symptoms required
for PTSD. Also, several of the Criterion D and E symptoms found in PTSD
are absent in major depressive disorder.
Personality disorders may have developed or be greatly exacerbated as a
result of exposure to a traumatic event or multiple traumatic events and may
be indicative of PTSD. Personality disorders are expected to occur
independently of trauma exposure.
Dissociative symptoms such as those seen in dissociative amnesia,
dissociative identity disorder, and depersonalization/derealization disorder
can be preceded by a traumatic event and may have co-occurring PTSD
symptoms. When the full criteria for PTSD diagnosis are met, then PTSD
with dissociative symptoms subtype should be considered.
Conversion disorder (functional neurological symptom disorder) may be
better diagnosed as PTSD if the somatic symptoms occur after exposure to
a traumatic event.
Flashbacks or the reexperiencing of traumatic events found in PTSD
need to be differentiated from illusions, hallucinations, and other perceptual
symptoms that occur in schizophrenia, brief psychotic disorder, and other
psychotic disorders; depressive and bipolar disorders with psychotic
features; delirium; substance/medication-induced disorders; and psychotic
disorder due to a medical condition. Acute stress disorder flashbacks are
directly related to the traumatic event and occur in the absence of other
psychotic or substance-induced features.
In patients with bodily injury resulting in a traumatic brain injury (TBI),
symptoms of acute stress disorder and PTSD may occur. Importantly,
postconcussive syndromes (e.g., headaches, dizziness, memory problems,
irritability, concentration problems) may occur in conjunction with acute
stress disorder or PTSD. Also, patients with TBI may have dissociative
symptoms (e.g., altered sense of awareness, memory problems), which are
difficult to distinguish from symptoms of acute stress disorder and PTSD.
Symptoms of reexperiencing and avoidance are characteristic of PTSD and
acute stress disorder, whereas persistent disorientation and confusion tend
to be more specific to TBI. Moreover, acute stress disorder symptoms
persist for up to 1 month following trauma exposure, whereas TBI
symptoms may last for years and in some cases for the rest of an
individual’s life.
In some persons with acute stress disorder or PTSD, dissociative
symptoms or behavior that appears detached may predominate. Dissociative
states may be short-lived—lasting for only a few seconds or minutes—or
long lasting, persisting for days. Anger, irritability, or aggressive behavior
can also be strongly manifested in persons with acute stress disorder or
PTSD. The symptoms of intrusion may not be of the event itself, but may
be in response to specific aspects of the event, such as reacting to seeing a
sport-utility vehicle that is a reminder of where a rape occurred.
Feelings of panic are common in acute stress disorder. Panic disorder
should be diagnosed only if the panic attacks are unexpected and there is
anxiety about future panic attacks or the individual engages in maladaptive
behavior in an effort to thwart what is thought to be disastrous
consequences of a panic attack (e.g., death, severe embarrassment).
See DSM-5 for additional disorders to consider in the differential
diagnosis. Also refer to the discussions of comorbidity and differential
diagnosis in their respective sections of DSM-5.
Summary
• Acute stress disorder and PTSD require exposure to an event involving
actual, threatened, or witnessed death, serious injury, or sexual
violation. In cases of actual or threatened death of a family member or
friend, the event(s) must have been violent or accidental.
• Exposure to the traumatic event can occur in one or more of the
following ways: personal experience, witnessing it, learning that it
occurred to a close relative or close friend, or repeated exposure to
aversive details of an event that is work related.
• In acute stress disorder, nine or more symptoms occur in any of five
categories: intrusion, negative mood, dissociation, avoidance, and
arousal.
• In PTSD, individuals ages 7 years and older must experience one or
more intrusive symptoms, one or more avoidance symptoms, two or
more negative alterations in cognitions or mood, and two or more
arousal symptoms. Children ages 6 and younger must experience one or
more intrusion symptoms, one or more symptoms of avoidance and/or
negative alterations in cognitions or mood, and two or more arousal
symptoms.
• The duration of symptoms is 3 days to 1 month for acute stress
disorder, and greater than 1 month for PTSD.
• In acute stress disorder and PTSD, the symptoms cause significant
distress or impairment in social, occupational, or other important
psychosocial areas of functioning.
• In acute stress disorder and PTSD, the symptoms are not associated
with the direct physiological effects of a substance or medical
condition.
• Variability in the expression of symptoms in reaction to traumatic
events may be influenced by age, cultural syndromes and idioms of
distress, co-occurring traumatic brain injury, preexisting mental health
disorders, and medical conditions.
IN-DEPTH DIAGNOSIS
Adjustment Disorders
Ms. Meyers, a 48-year-old married woman who was diagnosed with breast cancer 6 weeks ago,
was referred to an outpatient mental health clinic for an evaluation of what her oncologist
described as “anxiety symptoms.” She has two children, ages 10 and 13. During the psychiatric
intake evaluation, she describes difficulty she has been having with sleep since her diagnosis.
She also reports experiencing a racing heart, sweating, and nausea when she has to see her
oncologist, resulting in several missed appointments. When asked what stage of breast cancer
she has, she is unable to answer, replying, “I don’t know. There are stages?” When asked what
treatment her physician is recommending, she replies, “I don’t know; he said something about
surgery.” She has a difficult time recalling her conversations with her physician and states that
she often “goes blank” when she is in his office, resulting in her not engaging with her physician
regarding her care and experiencing difficulty recalling recommendations. She reports feeling
“down” since the diagnosis and unable to stop thinking about having cancer. She stopped going
to her job of over 15 years and has been unable to take her children to school, stating she has
been “too depressed.” She cannot turn to her husband for support because she does not want to
upset him.
Ms. Meyers has developed emotional and behavioral (e.g., missing appointments) symptoms
in response to her cancer diagnosis within 3 months of learning about it. The symptoms are
clinically significant such that she is experiencing significant impairment in her occupational
role (e.g., not going to work) and social relationships (e.g., disengaging from family
responsibilities and from her husband emotionally). Her symptoms have features that are
consistent with adjustment disorder with features of PTSD. Her experiences of “going blank”
when she is in her doctor’s office and not recalling her physician’s recommendations can be
viewed as dissociative symptoms associated with a diagnosis of PTSD, except that a diagnosis of
breast cancer does not meet DSM-5 criteria for a traumatic event. Additionally, she is
experiencing symptoms consistent with the depressed mood specifier. Adjustment disorders can
complicate the course of illness and influence medical outcomes. In this case, Ms. Meyers is
missing appointments and experiencing dissociative symptoms during visits with her physician
that prevent her from engaging in her treatment.
After someone devotes a great deal of time and effort to his or her
career, it is understandable that when promotions or advancements do not
occur that feelings of anger, sadness, disbelief, and irritability can develop.
However, when symptoms persist beyond what would be expected, causing
profound impairment in social, occupational, or other important areas, the
individual may have an adjustment disorder. Assessing the length of time
since the stressor occurred is important, because to meet criteria for
adjustment disorder, the symptoms must develop within 3 months of the
onset of the stressor and persist for less than 6 months once the stressor and
its consequences have ended. Additionally, the stressor is not considered a
traumatic event. In this case, Ms. Carter is experiencing marked impairment
in her occupational and interpersonal relationships. Her reaction is
clinically significant and out of proportion to the severity or intensity of the
stressor (i.e., not getting promoted). It will be important to get a thorough
mental health history on Ms. Carter to make sure that her symptoms are not
an exacerbation of a preexisting psychiatric disorder. The nature, meaning,
and experience of the stressor by Ms. Carter will be important to understand
because there may be culture-related factors (e.g., actual or perceived
discrimination) that are contributing to Ms. Carter’s distress. Understanding
the cultural context that Ms. Carter is functioning in will assist the clinician
in determining whether Ms. Carter’s symptoms are beyond what would be
expected.
Importantly, adjustment disorders are associated with an increased risk
of suicide and suicide attempts and therefore require a thorough risk
assessment and plan. This is particularly true in this case because Ms.
Carter has expressed a cognitive belief consistent with suicide ideation that
requires a thorough assessment, evaluation, and treatment plan to ensure her
safety.
Differential Diagnosis
In DSM-5, the symptom profile for major depressive disorder, even in
response to a stressor, differentiates it from adjustment disorder. Therefore,
if an individual meets criteria for major depressive disorder, he or she
would not be diagnosed with adjustment disorder.
Adjustment disorder can be differentiated from PTSD and acute stress
disorder by the type of stressor. In adjustment disorder the stressor does not
meet the Criterion A requirements found in PTSD and acute stress disorder.
Moreover, adjustment disorders can be diagnosed immediately and persist
up to 6 months after exposure to the stressor, whereas acute stress disorder
occurs within 3 days and 1 month of a traumatic event and PTSD is
diagnosed 1 month after exposure to a traumatic event. An adjustment
disorder should be considered when an individual does not meet the full
diagnostic requirements for PTSD or acute stress disorder.
Differentiating personality disorders from an adjustment disorder
requires a thorough evaluation of lifetime psychiatric symptoms and
functioning. To diagnose an adjustment disorder when a personality
disorder is present, it is important to assess if the symptoms for adjustment
disorder are met. Also, the distress response has to exceed what is
recognized as personality disorder symptoms.
In DSM-5, psychological factors affecting other medical conditions
include behaviors and other factors that exacerbate a medical condition,
whereas adjustment disorder is a psychological reaction to the stressor (e.g.,
medical condition). Adjustment disorder can accompany any medical
illness. An adjustment disorder may complicate the course of medical
illness; therefore, behaviors such as missing appointments, non-compliance,
and complicated interactions with medical staff may warrant an assessment
of adjustment disorder.
Adjustment disorder can be distinguished from normative stress
reactions by assessing the magnitude of the distress. Clinicians should
evaluate whether the distress response (e.g., mood, behavior, functioning)
exceeds what would normally be expected in response to the stressful event.
Considerations of cultural factors are important when making
determinations of normative reactions.
See DSM-5 for additional disorders to consider in the differential
diagnosis. Also refer to the discussions of comorbidity and differential
diagnosis in their respective sections of DSM-5.
Summary
• In adjustment disorders, symptoms develop in response to identifiable
stressors that do not meet criteria for a traumatic event.
• The symptoms occur within 3 months of exposure to the stressors.
• The symptoms are characterized by marked distress in excess of what
would be considered normative and culturally appropriate.
• The symptoms do not persist for more than 6 months.
SUMMARY
Trauma- and Stressor-Related Disorders
Reactions to traumatic events and life stress vary depending on the type of stress, the individual,
and the cultural context. The diagnostic class of trauma- and stressor-related disorders includes
disorders with traumatic, life-threatening stressors, as well as stressors that vary in severity. The
key to these disorders is that the symptoms are in response to identifiable stressor(s). Reactive
attachment disorder and disinhibited social engagement disorder are considered to be responses
to having experienced a pattern of insufficient care, even if the child is currently being reared in
a normative caregiving setting. Adjustment disorders occur when a person has responses to a
nontraumatic event that are considered to be excessive or that cause impairment in social,
occupational, or other domains of functioning. Acute stress disorder and PTSD occur in response
to traumatic events.
The trauma- and stressor-related disorders have similarities with anxiety disorders and
obsessive-compulsive and related disorders but differ in the course and duration of symptoms,
prevalence, and age at onset. Reactive attachment disorder and disinhibited social engagement
disorder are diagnosed in children and adolescents and are relatively rare. Adjustment disorders
are relatively common and are associated with increased risk of suicide and suicide attempts. All
of the trauma- and stressor-related disorders are serious and cause marked disruption in
psychosocial functioning. For individuals with medical illness, these disorders can alter the
course of their illness, thereby increasing morbidity and mortality.
Diagnostic Pearls
• The trauma- and stressor-related disorders diagnostic class
includes disorders in which exposure to a traumatic or stressful
event must precede the onset of symptoms. These disorders are no
longer part of the anxiety disorders class because of the variability
in response to traumatic or stressful events. For instance, some
individuals may have anxiety- or fear-based symptoms, whereas
others may experience anhedonic or dysphoric symptoms.
• In acute stress disorder and PTSD, traumatic events may be
experienced directly or indirectly, threatened, or witnessed.
• Exposure to an event through electronic media, television, movies,
or pictures does not meet criteria for an event that can trigger acute
stress disorder or PTSD unless this exposure is work related.
• Acute stress disorder can be diagnosed 3 days after a traumatic
event and may progress to a diagnosis of PTSD after 1 month if
the symptoms persist.
• Emotional undermodulation is characterized by reexperiencing
and hyperarousal in acute stress disorder and PTSD.
• The absence of necessary and appropriate caregiving during
childhood is a requirement for reactive attachment disorder and
disinhibited social engagement disorder. The former is expressed
as an internalizing disorder with depressive symptoms and
withdrawn behavior, whereas the latter is marked by disinhibition
and externalizing behavior.
• Adjustment disorder can accompany any medical disorder and
most psychiatric disorders.
Self-Assessment
Key Concepts: Double-Check Your Knowledge
What is the relevance of the following concepts to the various trauma- and
stressor-related disorders?
• Traumatic event
• Stressors
• Avoidance
• Negative alterations in cognitions and mood
• Hypervigilance
• Sleep disturbance
• Marked distress in excess of what would be expected
• Markedly disturbed and developmentally inappropriate attachment
behaviors
Case-Based Questions
PART A
Ms. Walker, a 38-year-old, HIV-positive woman, describes using alcohol and cocaine since she
was in high school to “deal with stress.” She describes “being on edge” all the time and “always
jumping out of my skin.” An uncle who came to live with her mother sexually molested her
when she was between ages 5 and 9 years. She reports experiencing nightmares about her abuse
and having difficulty trusting others. She often misses her medical appointments because she
does not like being in a waiting room with “people I don’t know.” She describes her heart racing,
palms sweating, and difficulty breathing when she is in the waiting room and states that this
happens when she is in a closed area around people she does not know. She worries about her
HIV disease and is afraid to be in a relationship because she does not want to transmit the virus
to anyone. Therefore, she avoids being around people and is finding it difficult to leave her
house. She is feeling hopeless and “down” about her situation.
Ms. Walker says she is using alcohol and cocaine to cope with her
stress. It will be important to understand the signs, symptoms, and
causes of Ms. Walker’s “stress.” Ms. Walker needs to be asked directly
what she means by stress and to describe her symptoms in detail. These
questions are necessary to develop an understanding of the duration of her
symptoms and the corresponding stressors that exacerbate her symptoms, as
well as to appropriately diagnose her condition.
PART B
Ms. Walker’s CD4 T-cells start declining, and her viral load increases. She is hospitalized with
pneumonia. Once stabilized and released from the hospital, she begins to increase her alcohol
and cocaine use to cope with the fear that her hospitalization evoked. After she enters into
therapy that focuses on her childhood sexual abuse, her panic symptoms subside, and she is able
to go to her medical appointments. As she begins to interact with her physician and understand
her HIV disease, she goes into a detox program. She finds a community organization for women
living with HIV and begins attending support groups that reduce her isolation.
Short-Answer Questions
1. For acute stress disorder, what is the duration of the symptoms after
exposure to the traumatic event?
2. For PTSD, what is the duration of symptoms after exposure to the
traumatic event?
3. True or False: Acute stress disorder and PTSD are more common
among men than women.
4. For adjustment disorder, how long can the symptoms persist?
5. Acute stress disorder symptoms occur in five categories: intrusion,
negative mood, dissociation, avoidance, and arousal. How many
symptoms across any of these five categories are necessary to meet
criteria?
6. How many symptoms of intrusion are required for PTSD?
7. How many symptoms of avoidance are required for PTSD in
individuals ages 7 years or older?
8. For adults, how many symptoms of negative alterations in cognitions
and mood are required for PTSD?
9. How many symptoms of arousal and reactivity are required for PTSD?
10. Adjustment disorders often complicate medical illness. What percentage
of people in a hospital psychiatric consultation setting are typically
diagnosed with an adjustment disorder?
Answers
1. In acute stress disorder, the duration of the symptoms after exposure
to the traumatic event is 3 days to 1 month.
2. In PTSD, the duration of symptoms after exposure to the traumatic
event is longer than 1 month.
3. False. Acute stress disorder and PTSD are more common among
women.
4. In adjustment disorder, symptoms can persist for no more than 6
months.
5. Nine or more symptoms across any of the five categories are
necessary to meet criteria for acute stress disorder.
6. One or more symptoms of intrusion are required for PTSD.
7. One or more symptoms of avoidance are required for PTSD in
individuals ages 7 years or older.
8. Two or more symptoms of negative alterations in cognitions and
mood are required for PTSD in adults.
9. Two or more symptoms of arousal and reactivity are required for
PTSD.
10. As many as 50% percent of people in a hospital psychiatric
consultation setting may be diagnosed with an adjustment disorder.
11
Dissociative Disorders
David Spiegel, M.D.
Daphne Simeon, M.D.
IN-DEPTH DIAGNOSIS
Depersonalization/Derealization Disorder
Ms. Day was a 20-year-old college freshman when she first presented to her school’s mental
health clinic complaining of feeling “very strange and out of it.” She described that over the past
5 months she had started to feel increasingly detached from her body, as if she had no self, and
her mind felt blank. She went about her daily activities like a robot, becoming less academically
and interpersonally adept over time. At extreme moments she felt uncertain if she were alive or
dead, as if her existence were a dream; these experiences terrified her.
When asked by the school counselor, she denied any other unusual thoughts or experiences
or hearing voices or being fearful of others. She admitted to feeling depressed over a recent
breakup with her boyfriend. During this time she first began to notice some feelings of numbness
and unreality, but she did not pay much attention. As her low mood resolved over several
months, she found herself becoming increasingly disconnected and became worried enough to
finally seek help. She told the counselor that her 6-month romantic relationship with her
boyfriend had been very meaningful to her and that she had been planning to introduce him to
her family soon.
Ms. Day denied ever having been depressed before, any history of hypomania or psychosis,
and any other past psychiatric symptoms other than a time-limited bout of extreme anxiety and
panic attacks in ninth grade precipitated by the psychiatric hospitalization of her mother. When
her mother returned from the hospital, all Ms. Day’s symptoms cleared fairly rapidly. She also
admitted to several days of transient unreality symptoms in elementary school, when her parents
separated, her father left, and Ms. Day lived alone with her mother, who had paranoid
schizophrenia.
Ms. Day’s childhood was significant for pervasive aloneness and the sense that she not only
raised herself but also had to parent her ill mother. Her mother did not abuse her but neglected
Ms. Day’s emotional needs and frightened her with her own limitations. Although Ms. Day
largely kept to herself as a child, she did well in school and had a few close friends. She was
deeply ashamed of her mother and rarely brought friends home; this boyfriend would have been
the first to meet her mother. Ms. Day told the school counselor that it felt as if a switch had gone
off in her brain; she was so preoccupied by the seeming physicality of her symptoms that she
was referred for routine labs, otolaryngology and ophthalmology evaluations, brain magnetic
resonance imaging, and electroencephalography (EEG). When all tests came back normal, she
was referred to a psychiatrist. She also denied using any illicit substances, in particular cannabis,
hallucinogens, ketamine, or salvia, and her urine toxicology was negative.
TABLE 11–1. Helpful prompts and questions for the clinical interview
I know these experiences are very hard to put into words. Do your best. You are doing a good job.
Please say more.
Do you feel unreal, almost as if you no longer have a self or have lost yourself?
Do you feel detached from your feelings, as if you cannot feel, even though you know you have
them?
Do you feel disconnected from your mind as if it were blank or you have no thoughts?
Do you feel detached from parts of your body or your whole body?
Does your voice sound as if it were not you speaking or choosing the words?
Do your past memories feel very remote and difficult to evoke?
Has your sense of passing time been affected?
Do you feel robotic, as though you are on automatic pilot, going through the motions?
Do your bodily sensations feel dulled?
Do things around you look as if you are seeing them through a veil or fog, or as if they are dreamy
or unreal?
Do things look different visually, such as too sharp or too blurry, too two-dimensional or three-
dimensional, too close up or far away, or otherwise distorted?
Does your sense of your body in space, your balance, or your movements feel somewhat off?
How do all these experiences make you feel? [After individual answers:] Sometimes people feel as
if they are going crazy or losing their minds or as if they have some permanent brain damage.
Are these experiences causing you a lot of distress? In what ways?
Are these experiences affecting the way you relate to others, your interests and motivation to engage
in life, or the ways you can focus and remember to do your work?
As noted earlier, the following three aspects are crucial to the diagnosis:
Differential Diagnosis
According to DSM-5, depersonalization/derealization disorder cannot be
diagnosed if the symptoms occur exclusively in the context of another
mental disorder. Therefore, a very thorough present and past psychiatric
history must be obtained, so that the following three points become clear to
the clinician:
1. If the person has had past episodes of another psychiatric disorder, such
as major depressive disorder, panic disorder, social anxiety disorder,
obsessive-compulsive disorder, or psychotic disorders, these episodes
have been treated or spontaneously remitted to an extent that the current
depersonalization/derealization disorder symptoms clearly “have a life
of their own” that unequivocally extends above and beyond any such
comorbidity. Similarly, patients with dissociative symptoms above and
beyond depersonalization/derealization disorder would qualify for
diagnosis of the respective dissociative disorder instead.
2. If the person is currently presenting with depersonalization/derealization
disorder symptoms as well as symptoms of other psychiatric disorders,
the depersonalization/derealization disorder symptoms must be out of
proportion to the other comorbid symptoms, or the comorbid symptoms
must have had clear onset after and been secondary to the symptoms of
depersonalization/derealization disorder.
3. Any suspected medical or ongoing substance use that may be causing
the current depersonalization/derealization disorder symptoms must be
excluded. Initial substance use that acutely precipitated the symptoms
but is no longer occurring is not an exclusion (e.g., patient smoked
marijuana 2 months ago, had a bad trip, and has had
depersonalization/derealization disorder since without any subsequent
substance use).
Summary
• In depersonalization/derealization disorder, a range of symptoms
representing detachment and unreality from self and/or surroundings is
present.
• The symptoms are persistent or recurrent; although there is no clear
duration guideline in DSM-5, a minimum of 1 month is a rough
guideline.
• Significant medical conditions must be ruled out, as well as comorbid
psychiatric disorders. Another psychiatric disorder must never have
been present; been present but be largely remitted; be clearly secondary
to the depersonalization/derealization disorder symptoms; or, if still
present, be clearly lesser in associated severity, frequency, and
dysfunction to the depersonalization/derealization disorder.
• The depersonalization/derealization disorder symptoms must not be
due to medical conditions or ongoing drug use.
• Affected individuals must be clear about the “as-if” nature of the
symptoms; psychotic elaborations must be absent.
IN-DEPTH DIAGNOSIS
Dissociative Identity Disorder
Ms. Moore, a 37-year-old divorced secretary, sought psychiatric help because of gaps in
memory, suicidal thoughts, and relationship problems. She found herself unable to account for
things people said she had done. She also noticed that even though she had just filled the gas
tank in her car, it was half empty the next day, and miles had been added to the odometer. She
was a hard worker, but her personal life was limited, and she spent much of her time alone. She
was mistrusting of others and often felt taken advantage of in relationships. She was often sad
but found herself able to put aside her dysphoria in the service of getting work done. Her
marriage had ended at her insistence, and she had little interest in other relationships with men.
She came from a family that emphasized strict religious values but in which she had felt singled
out and misunderstood. It later emerged that a relative had physically and sexually abused her
over a period of years. She was highly critical of herself for not having run away from home.
Further examination, including measurement of hypnotizability, indicated that she was highly
hypnotizable. Ms. Moore has no history of substance use of any kind. In the course of
examination, she switched among several personality states, one presenting the dysphoric
persona, another that was angry and critical of the former, and a third that was a childlike
personality.
Differential Diagnosis
The mood of individuals with dissociative identity disorder may fluctuate
very rapidly in minutes or hours because of switching among different
identities, which may include an active, upbeat personality state and another
state that appears more depressed. Such shifts of mood can be mistaken for
rapid-cycling bipolar disorder.
Psychotic disorders may appear to overlap with dissociative identity
disorder. Identity fragmentation can be confused with delusional disorder,
and internal communication from dissociated identities can mimic auditory
hallucinations in schizophrenia. Differential diagnosis from brief psychotic
disorder should be guided by the predominance of dissociative symptoms
and occasional amnesia for the episode.
Other considerations in the differential diagnosis of dissociative identity
disorder include the following: Posttraumatic flashbacks, amnesia, or
affective blunting suggests a differential diagnosis of PTSD. Somatic
symptoms involving alterations in sensory or motor functioning suggest a
differential diagnosis of conversion disorder (functional neurological
symptom disorder). A history of sexual abuse that results in conflicts over
sexuality, body shape, and appearance may suggest a differential diagnosis
of feeding and eating disorders and sexual dysfunctions. Gender confusion
arising from cross-gendered identities may suggest a differential diagnosis
of gender dysphoria. Dissociative identity disorder may manifest with
symptoms identical to those produced by some seizure disorders, especially
complex partial seizures with temporal lobe foci. Symptoms associated with
the direct physiological effects of a substance can be distinguished from
dissociative identity disorder by the fact that a substance (e.g., a drug of
abuse or a medication) is judged to be etiologically related to the
disturbance. Factitious disorder or malingering is also possible and is
indicated by evidence of conscious manipulation of information about
symptoms, as distinct from dissociative amnesia in regard to aspects of
identity or experience.
Many individuals with dissociative identity disorder have comorbid
depressive symptoms, often sufficient to meet criteria for a major
depressive episode. In major depressive disorder, most or all personality
states are depressed. Individuals with dissociative identity disorder often
present with identities that comprise features of personality disorders,
suggesting a differential diagnosis of personality disorder, especially
borderline type. Comorbidity is also possible, especially when there is a
severe trauma history in childhood and comorbid depression. PTSD is a
common differential diagnosis and comorbid disorder. Stabilization of
dissociative and posttraumatic symptoms may be necessary before
diagnosing a comorbid personality disorder.
See DSM-5 for additional disorders to consider in the differential
diagnosis. Also refer to the discussions of comorbidity and differential
diagnosis in their respective sections of DSM-5.
Summary
• Individuals with dissociative identity disorder exhibit failure of
integration of aspects of identity, memory, or consciousness.
• Individuals with dissociative identity disorder experience amnesia for
daily as well as traumatic events.
• Disruption of personality or identity states occurs in individuals with
dissociative identity disorder.
• Trauma history is frequent among individuals with dissociative identity
disorder.
SUMMARY
Dissociative Disorders
Dissociative disorders are a failure in function rather than an aberration in
mental content; they involve the loss of integration of elements of identity,
personality, memory, sensation, and consciousness, as well as
depersonalization/derealization (e.g., detachment from the body, sense of
self, or surroundings), amnesia for traumatic or other memories, and
fragmentation of identity. These disorders occur typically in the aftermath
of trauma, but unlike acute stress disorder and PTSD, a traumatic stressor is
not a diagnostic requirement. There is a dissociative subtype of PTSD that
involves depersonalization or derealization in addition to other dissociative
symptoms of PTSD, such as flashbacks and amnesia. Neuroimaging data
suggest that these dissociative symptoms of PTSD involve increased frontal
and inhibited limbic activity—that is, an overmodulation of affective
response. Symptoms may fluctuate, and many people with the disorder have
limited awareness of the extent of their disabilities. Dissociative disorders
are functional disorders, meaning that the ability to integrate elements of
identity, recover memories, and reintegrate perception is compromised but
remains, complicating diagnosis but offering opportunities for treatment.
Diagnostic Pearls
• Dissociative disorders represent a discontinuity or failure of
integration of normal mental processes, including identity,
memory, perception, and consciousness.
• Dissociative symptoms can constitute an intrusion into ordinary
integrated functioning, such as identity disruption, or a failure of
integrated function, such as amnesia or depersonalization.
• Dissociation is often related to a history of trauma, including
physical and sexual abuse in childhood, as well as emotional abuse
and neglect.
• Dissociative symptoms such as amnesia, flashbacks, and
depersonalization/derealization can also be part of PTSD
(including a new dissociative subtype) and acute stress disorder.
• Dissociative symptoms, including pathological possession and
trance, occur in many cultures around the world.
• Dissociative symptoms are often hidden or unrecognized,
requiring careful and informed evaluation. They tend to be
underdiagnosed or misdiagnosed.
Self-Assessment
Key Concepts: Double-Check Your Knowledge
What is the relevance of the following concepts to the various dissociative
disorders?
Case-Based Questions
PART A
Ms. Powell, age 29, is brought to the emergency department with deep lacerations on her
forearm that were apparently self-inflicted. She reports having no memory of how it happened
and acts in a fearful and tearful manner. She thinks she was running in the dark, tripped, and fell,
cutting her arm on a piece of metal. This story, emotional but vague, does not fit the nature of the
injury. She has in the past been diagnosed with bipolar disorder and antisocial personality
disorder. Her presentation in the emergency department indicates some depression, no evidence
of mania or hypomania, and no anger. A urine toxicology screen is negative.
PART B
Ms. Powell agrees to assessment with hypnosis and proves to be highly hypnotizable. She is
asked to relive, in hypnosis, the time just before her injury. In hypnosis, her affect and voice
change markedly, and she says, “I wanted to be out, and she wouldn’t let me, so I cut her so deep
that she wouldn’t want to be out and feel it. It was so deep that even I couldn’t look at it, but it
sure scared her.” This dissociative picture, with amnesia, of the self-inflicted wound is consistent
with a diagnosis of dissociative identity disorder rather than depression with suicidal ideation or
borderline personality disorder. This diagnostic interview provides a basis for future therapeutic
work, teaching Ms. Powell to control her dissociation and negotiate conflicts among her
dissociated identities.
How does this information clarify the diagnosis? The fact that further
information was retrievable with the assistance of hypnosis illustrates the
type of amnesia typical of a dissociative disorder. A plausible explanation
for Ms. Powell’s wound was elicited, coupled with a sudden change in her
affect and identity, which is typical of dissociative identity disorder.
Short-Answer Questions
1. Describe two effects on brain activity during response to trauma-related
stimuli in the dissociative subtype of PTSD, according to recent
neuroimaging studies.
2. What is the relationship between hypnotic and dissociative mental
states?
3. What would confirm the diagnosis of dissociative identity disorder
during a diagnostic interview?
4. For what type of events may individuals with dissociative identity
disorder experience amnesia?
5. Depersonalization involves the psychological experience of feeling
detached from what?
6. Derealization involves the psychological experience of feeling detached
from what?
7. Dissociative fugue involves what two things?
8. What history do people with dissociative identity disorder frequently
have?
9. Dissociative symptoms and substance use disorder may be comorbid
diagnoses under what circumstance?
10. Can auditory hallucinations be a symptom of dissociative identity
disorder?
Answers
1. Neuroimaging data suggest that dissociative symptoms in PTSD
involve increased frontal and inhibited limbic activity.
2. Hypnotic and dissociative mental states are similar.
3. The occurrence of a dissociative switch during a diagnostic interview
would confirm the diagnosis of dissociative identity disorder.
4. Individuals with dissociative identity disorder may experience
amnesia for everyday or traumatic events.
5. Depersonalization involves the psychological experience of feeling
detached from self or body.
6. Derealization involves the psychological experience of feeling
detached from the surrounding world.
7. Dissociative fugue involves bewildered wandering coupled with
dissociative amnesia.
8. People with dissociative identity disorder frequently have a history of
physical or sexual abuse.
9. Dissociative symptoms and substance use disorder may be comorbid
diagnoses if the dissociative symptoms are not better accounted for by
the substance abuse.
10. Auditory hallucinations may be a symptom of dissociative identity
disorder.
12
“None of the doctors can figure out why I have so many things wrong with
me.”
IN-DEPTH DIAGNOSIS
Somatic Symptom Disorder
Ms. Smith is a 32-year-old woman referred to the mental health clinic for a “second opinion”
from a primary care physician within the medical group. Ms. Smith endorses a multiyear history
of chronic headaches, pain in multiple joints, and intermittent abdominal pain complicated by
occasional nausea. She reports that she has undergone numerous studies and seen multiple
specialists in an attempt to find a cause of her symptoms, but unfortunately no clear etiology has
been identified to date. Nothing she does improves the chronic waxing and waning of these
symptoms. She has been unable to hold a job for any length of time because of her frequent and
often lengthy medical hospitalizations for nausea. The patient further explains that her
immediate family has grown tired of all her physical complaints along with her intense and
excessive focus on these symptoms. Despite what appears to be a very thorough medical
evaluation to date, Ms. Smith feels that a few more tests may be warranted (she brought a list) to
help find the medical cause of her suffering. She is very concerned that these symptoms may be
a harbinger of an ominous medical condition, despite the negative workup. Although she is
frustrated with the lack of explanation for her somatic complaints, she denies depression or
significant anxiety unrelated to her health concerns. A careful review of her medical records
reveals multiple negative studies, vague discharge summaries, numerous medication trials
coupled with many medication “sensitivities,” and many diagnoses from many different
providers.
Ms. Smith displays multiple physical complaints, which she finds quite
distressing and which interfere with her daily life—that is, the quality of her
relationships with others and her ability to work. The physical symptoms of
somatic symptom disorder could be related to a known medical condition
or, as in this case, may be medically unexplained. The experience of
somatic symptoms of unclear etiology is not in itself sufficient to make a
diagnosis of somatic symptom disorder, however. These somatic symptoms
must be complicated by excessive maladaptive thoughts, feelings, and
behaviors.
Ms. Smith also displays persistent and excessive concern about the
seriousness of her symptoms, despite a thorough medical evaluation that
failed to reveal a potential etiology to her multiple somatic complaints. She
displays a chronic high level of anxiety or worry related to her physical
symptoms. Her family reports that she is always and overly focused on her
multitude of symptoms. Her health issues appear to dominate her life,
leading to significant functional and social impairment.
Differential Diagnosis
The differential diagnosis of somatic symptom disorder is extensive and
includes both other psychiatric disorders and medical conditions with
nonspecific, transient, and often multisystem involvement (e.g.,
autoimmune disorders such as systemic lupus erythematosus). If the
person’s physical symptoms are better accounted for by another psychiatric
disorder (e.g., the neurovegetative symptoms of major depression or the
symptoms of autonomic arousal associated with panic disorder) and the
diagnostic criteria for that disorder are fully satisfied, then that psychiatric
disorder should be considered as an alternative diagnosis or a comorbid
condition.
Psychiatric disorders to consider in the differential diagnosis of somatic
symptom disorder include anxiety disorders such as generalized anxiety
disorder and panic disorder, because of the predominant worry and anxiety
present in somatic symptom disorder. Panic attacks are rare in somatic
symptom disorder, and the anxiety in somatic symptom disorder is related
to wellness concerns rather than other more general or environmental
sources of anxiety. The affective symptoms such as sadness and
hopelessness and the negative cognitions of guilt and suicidal thoughts are
absent in somatic symptom disorder, unlike in depressive disorders.
Individuals experiencing illness anxiety disorder have maladaptive anxiety
about their health, but lack significant associated somatic symptoms.
Conversion disorder (functional neurological symptom disorder) is defined
by a loss of function, whereas in somatic symptom disorder the diagnostic
focus is on somatic symptom–related distress. Somatic symptom disorder is
differentiated from a delusional disorder by the fact that in somatic
symptom disorder the somatic beliefs are usually realistic and not held with
a delusional intensity. In somatic symptom disorder the recurrent ideas
about illness or somatic symptoms do not have associated repetitive
behaviors aimed at reducing anxiety, which are the hallmark of obsessive-
compulsive disorder. In body dysmorphic disorder, the person is
preoccupied by a perceived defect in his or her physical features, not a
somatic complaint that relates to a fear of an underlying medical illness.
Somatic symptom disorder is highly comorbid with other psychiatric
illnesses such as depressive disorders and anxiety disorders. If the criteria
for both somatic symptom disorder and another psychiatric disorder are
fulfilled in an individual, then both disorders should be coded and
appropriately treated.
See DSM-5 for additional disorders to consider in the differential
diagnosis. Also refer to the discussions of comorbidity and differential
diagnosis in their respective sections of DSM-5.
Summary
• The individual experiences one or more somatic symptoms that he or
she finds distressing and/or that result in significant disruption of daily
function.
• The somatic symptoms are associated with related, excessive
maladaptive thoughts, feelings, and behaviors.
• Somatic symptom disorder may occur in the presence or absence of a
medical condition that accounts for the physical symptoms. However, if
there is a medical condition that is responsible for the physical
complaints, then the symptom-associated thoughts, feelings, and
behaviors are disproportionate and excessive.
• The person experiences chronic and excessive thoughts about the
seriousness of the somatic symptoms.
• The somatic complaints and health concerns contribute to the person’s
substantial anxiety about his or her health and/or the significance of the
associated symptoms.
• The individual with somatic symptom disorder may also spend
excessive time and/or energy on the physical symptoms or related
health concerns.
• The person must be somatically preoccupied for >6 months. The
symptoms, however, may vary throughout the course of the illness.
IN-DEPTH DIAGNOSIS
Illness Anxiety Disorder
Ms. Xavier, a 32-year-old married woman, presents to the emergency department complaining of
a mild headache and “floaters” in her vision. She appears anxious and expresses concern that
these are symptoms of a brain tumor. She undergoes several tests, including head imaging, and is
told that the headache is likely a tension headache. She declines pain medications, stating that
the pain is minimal.
Ms. Xavier has presented to the emergency department and her primary care physician at
least six times in the past few months with a variety of somatic symptoms, including dizziness,
headaches, and floaters in her eyes. Multiple medical evaluations have failed to identify a serious
medical condition, but Ms. Xavier remains concerned that she has a brain tumor, despite
reassurance from her primary care physician. She has missed a number of days of work due to
medical appointments and also has difficulty completing tasks and concentrating due to anxiety.
She states that the anxiety primarily revolves around her health concerns. Collateral history from
her husband indicates that there has been a strain in their marriage due to her “obsession” with
having a brain tumor.
Mr. Best likely has illness anxiety disorder, but the case is atypical. He
describes a number of symptoms of panic attacks. The attacks, however,
appear to be precipitated by concerns about his heart. He is preoccupied
with having cardiac disease like his father, although a medical workup to
date fails to reveal cardiac issues. Individuals with illness anxiety disorder
may experience panic attacks triggered by illness concerns (in this case,
worry about a myocardial infarction). The case demonstrates illness anxiety
disorder in a male; the prevalence of the disorder is similar in males and
females. At least one-fourth of individuals with illness anxiety disorder
have an anxiety disorder, and a separate diagnosis of panic disorder could
be made if some of the attacks are not triggered by worries about health.
Mr. Best has features of the care-avoidant type. He avoids exercising
because he fears that it might jeopardize his life. He also avoids seeing his
primary care physician because he fears getting a negative report on his
physical health. He is easily alarmed when he hears about others with health
difficulties and avoids interactions with certain colleagues at work as a
result. Clearly, a thorough medical workup is necessary to rule out a general
medical disorder.
Differential Diagnosis
The first consideration in the differential diagnosis is whether an underlying
medical condition exists that fully explains the clinical picture. The
presence of an underlying condition does not exclude the possibility of a
coexisting illness anxiety disorder, but if a medical condition is present, the
health-related concerns and anxiety must be clearly disproportionate to the
medical condition in order to satisfy the diagnosis of illness anxiety
disorder. Individuals with illness anxiety disorder fear having or acquiring a
serious medical illness. Somatic symptoms are also present in conversion
disorder (functional neurological symptom disorder) and somatic symptom
disorder, but persons with these disorders are primarily focused on
symptom relief and less concerned about having a serious illness and
getting the proper diagnosis for their symptoms. The anxiety in illness
anxiety disorder is limited to health-related concerns, which helps
differentiate the disorder from other anxiety disorders, such as generalized
anxiety disorder, and obsessive-compulsive and related disorders. The
anxiety in generalized anxiety disorder could also include anxiety related to
health, but such anxiety is only one of the domains about which persons
with generalized anxiety disorder worry. Individuals may experience panic
attacks that are triggered by their illness concerns, and a diagnosis of panic
disorder should be considered in individuals who have panic attacks that are
not triggered by health concerns. Individuals with illness anxiety disorder
are not delusional and are able to recognize the possibility that they do not
have the feared illness. Anxiety is often a common response to medical
illness. However, if the anxiety is severe enough and there is a clear relation
to the onset of the medical condition, the diagnosis of an adjustment
disorder should be considered by the clinician. It is only when the health-
related anxiety becomes disproportionate to the related medical condition
and of appropriate duration that illness anxiety disorder may be diagnosed.
Persons with a major depressive episode may be preoccupied with illness,
but a diagnosis of illness anxiety disorder should be considered if
preoccupation with health concerns is present outside of a major depressive
episode.
The exact comorbidities are unknown because illness anxiety disorder is
a new disorder, but approximately two-thirds of individuals with illness
anxiety disorder have at least one other comorbid major psychiatric
disorder. Comorbid psychiatric disorders include anxiety disorders, such as
generalized anxiety disorder or panic disorder; obsessive-compulsive
disorder; and mood disorders, including major depressive disorder and
persistent depressive disorder (dysthymia). In addition, individuals with
illness anxiety disorder may have comorbid personality disorders.
See DSM-5 for additional disorders to consider in the differential
diagnosis. Also refer to the discussions of comorbidity and differential
diagnosis in their respective sections of DSM-5.
Summary
• In illness anxiety disorder, the primary feature includes preoccupation
with and a high level of anxiety about having or acquiring a serious
illness.
• If a medical condition is diagnosed, the individual’s anxiety and
preoccupation are excessive and disproportionate to the severity of the
condition.
• Somatic symptoms may be present, and if present, are typically mild.
The anxiety is not focused on the somatic symptoms, but rather on a
suspected serious underlying medical diagnosis.
• A thorough medical evaluation fails to identify a serious medical
condition that accounts for the patient’s symptoms.
• The individual either performs excessive behaviors (e.g., seeking out
reassurance and information) or exhibits maladaptive avoidance (e.g.,
avoiding doctors’ appointments).
• The preoccupation may not be continuous, but the state of being
preoccupied is chronic, with a minimum duration of at least 6 months.
IN-DEPTH DIAGNOSIS
Conversion Disorder
(Functional Neurological Symptom Disorder)
Ms. Omni is a 31-year-old woman brought to the emergency department by ambulance after an
acute onset of right-sided weakness. An administrative assistant at a large law firm, she was at
work in a meeting when she experienced numbness in her right hand and dizziness. She reports
that she felt light-headed and dizzy and left the meeting to sit down. Over the next hour, her right
hand became weak, and she was unable to hold her coffee cup. The weakness gradually spread to
her lower extremity; on presentation, she was unable to move her right leg. On physical
examination, she appears anxious and states that in the meeting she was working to complete a
project with an approaching deadline. On strength testing, Ms. Omni is unable to lift her right
leg. Her deep tendon reflexes are normal. While supine, she is asked to raise her left leg against
resistance while the doctor’s hand cups her right heel. In this maneuver, the doctor feels
downward pressure with the hand under her right heel, which she was previously unable to raise
(positive Hoover sign). A CT scan of the brain is completed and reveals no acute process. Ms.
Omni states that she does not use alcohol or other substances.
Mr. Aarons has a known history of seizure disorder but presented after
an increase in the frequency of his seizures despite being adherent to his
medications. The recent seizures differ from his seizures in the past, and the
thrashing movements and verbalizations during the seizures are inconsistent
with patterns associated with known seizure phenomena. A thorough
workup by his neurologist fails to find a neurological cause for the new
spells. He is male and 46, which is atypical for conversion disorder, because
there is a higher incidence among females and the onset of nonepileptic
attacks peaks in the third decade. Mr. Aarons can have a diagnosis of
conversion disorder in conjunction with his known medical history of a
seizure disorder. The conflict with his teenage daughter may be a
contributor to the onset and exacerbation of his nonepileptic seizures. The
relative lack of concern over the increase in his symptoms (la belle
indifférence) may be present but is not specific to individuals with this
disorder.
Differential Diagnosis
Individuals with conversion disorder present with medical symptoms and
deficits, so the main differential diagnosis includes neurological and
medical conditions that could explain the symptoms. These individuals
must have a thorough medical workup and may require repeated
assessments, especially if the symptoms appear progressive. The disorder
may coexist with a medical condition, but the diagnosis of conversion
disorder should be made only if the symptoms are not better explained by
the underlying medical condition. Other mental disorders to be considered
include other somatic symptom and related disorders, dissociative
disorders, body dysmorphic disorder, depressive disorders, and panic
disorder. If symptoms of conversion disorder and another disorder are
present, both diagnoses should be made. The distinction of whether the
symptoms are voluntarily produced can be a difficult one. Individuals with
functional neurological symptoms are not aware of producing the
symptoms, whereas individuals with malingering and factitious disorder are
deliberately and purposefully feigning the symptoms.
Comorbidities with anxiety disorders and depressive disorders are more
common in individuals with neurological disease. Personality disorders are
more common in patients with conversion disorder than in the general
population. In addition, comorbid neurological or medical conditions may
be present. Psychosis and substance use disorders are uncommon.
See DSM-5 for additional disorders to consider in the differential
diagnosis. Also refer to the discussions of comorbidity and differential
diagnosis in their respective sections of DSM-5.
Summary
• Individuals with conversion disorder have one or more symptoms or
deficits that affect voluntary motor or sensory function.
• There is positive evidence that the symptoms are inconsistent with a
recognized neurological or medical disease.
• Medical and neurological diseases have been excluded and do not
explain the symptoms or deficits.
• There may be identifiable psychological precipitants in the initiation or
exacerbation of the symptoms, although such a precipitant is not
required for the diagnosis because clear stressors and trauma may not
be identifiable.
• Positive evidence that the symptoms are voluntarily produced or
feigned excludes a diagnosis of conversion disorder; however, a
judgment that the symptoms are not intentionally produced is not
required, because the intention may be difficult to assess.
• Symptoms and deficits vary in severity from minor to severe and, in
course, from acute to chronic. The physical and mental disability can be
similar to that experienced by individuals with comparable medical
diseases.
• Conversion disorder must be differentiated from neurological and
medical conditions and other somatic symptom and related disorders.
SUMMARY
Somatic Symptom and Related Disorders
The somatic symptom and related disorders all share a focus on somatic
symptoms and their occurrence primarily in general medical, rather than
mental health care, settings. They represent a new class of disorders in
DSM-5, replacing the somatoform disorders section in previous editions of
DSM. The hallmark of the disorders included in this section of DSM-5 is
the prominence of distressful somatic symptoms associated with functional
impairment. The new approach to disorders presenting with physical
symptoms emphasizes that the diagnoses are made on the basis of troubling
somatic symptoms along with associated maladaptive thoughts, feelings,
and behaviors, rather than the absence of a medical explanation for the
physical complaints. A number of biological, social, and psychological
factors contribute to the development of somatic symptom and related
disorders. Variations in the presentation of these disorders likely relates to a
nonphysiological interaction of these factors. This diagnostic class
acknowledges that how an individual interprets and adapts to the experience
of somatic symptoms may be as important as the somatic symptoms
themselves. Medically unexplained symptoms are no longer predominant
features in most of the diagnostic criteria for somatic symptom and related
disorders, because individuals may have maladaptive cognitive or
behavioral responses to physical symptoms due to a diagnosed medical
condition.
Diagnostic Pearls
• Individuals with somatic symptoms respond to the presence of
physical complaints and health concerns with excessive and
maladaptive thoughts, feelings, and/or behaviors.
• These disorders are commonly associated with a markedly poor,
patient-rated self-assessment of health status.
• There is a significant increase in health care utilization among
individuals with somatic symptom and related disorders.
• Individuals with somatic symptom and related disorders are most
often found in the medical setting and less commonly encountered
in mental health settings.
• It is not the absence of an identified medical etiology of the
physical complaints that is the focus of the somatic symptom and
related disorders but rather the way in which individuals interpret
and adapt to them.
• Conversion disorder (functional neurological symptom disorder)
differs from the other somatic symptom and related disorders in
that a medically unexplained symptom of the voluntary motor and
sensory nervous system remains a key feature of this diagnosis.
• In illness anxiety disorder, a person experiences intense concern
about acquiring, or preoccupation with having, an undiagnosed
medical illness.
• The essential feature of psychological factors affecting other
medical conditions is the presence of clinically significant
behavioral or psychological factors that adversely affect the
management of a co-occurring medical condition.
Self-Assessment
Key Concepts: Double-Check Your Knowledge
What is the relevance of the following concepts to the various somatic
symptom and related disorders?
Case-Based Questions
PART A
Ms. Reed is a 36-year-old woman with a recent diagnosis of hypothyroidism who presents to the
mental health clinic upon referral from her primary care physician for evaluation of anxiety. The
referral form indicates that she has had recurrent physical complaints (e.g., fatigue, dizziness,
palpitations) over the last 3 years. As a result of the workup of these symptoms, she was
discovered to have clinical hypothyroidism. The hypothyroidism was successfully treated, but
unfortunately the symptoms continued, largely unabated. Further medical evaluation did not
reveal any etiology for these continued symptoms. Her primary care physician, however,
referred her to an endocrinologist out of concern that some of her symptoms may be due to either
over- or undertreatment of her hypothyroidism. The endocrinologist determined that she was
clinically and physiologically euthyroid. Ms. Reed “no-showed” for her first scheduled mental
health intake 2 weeks ago but arrived on time for her current appointment. She disagrees with
the referral to a mental health care provider.
What aspects of her history are consistent with somatic symptom and
related disorders? Ms. Reed presented initially to her primary care
provider, a common occurrence for individuals with probable somatic
symptom and related disorders. In addition, she has undergone a series of
studies, along with a subspecialty medical referral, to determine a possible
etiology of her somatic symptoms. Increased utilization of health care
resources is frequently encountered in individuals with somatic symptom
and related disorders. Her missed appointment may signify a hesitancy to
see a mental health care provider. Individuals with somatic symptom and
related disorders may resist referral to mental health care due to the
somatic, rather than psychological, focus of their symptomatology.
PART B
Ms. Reed reports that the somatic symptoms are very bothersome and prevent her from engaging
in many of the activities she used to enjoy. She finds herself spending a significant amount of
time searching the lay press for potential etiologies of her symptoms and natural remedies. She is
profoundly frustrated and somewhat angered at the medical establishment for what she perceives
as substandard medical care and attention to her symptoms. She is also anxious and worried that
her symptoms signify some yet-unidentified, terrible disease. Ms. Reed is very focused on her
physical complaints throughout the interview. She wants to know how a mental health care
provider is going to help with her “obviously physical” problems.
Answers
1. In somatic symptom disorder, the associated maladaptive thoughts,
feelings, and behaviors must be excessive.
2. Six months is the minimum duration of the symptoms in somatic
symptom disorder and of the health preoccupation in illness anxiety
disorder.
3. Cognitive features of somatic symptom and related disorders include
intense attention to somatic symptoms, ascription of normal bodily
sensations to pathological disease states, and often-intense concern
about physical health status.
4. A mental health care provider can differentiate illness anxiety disorder
from somatic symptom disorder by knowing that the individual with
illness anxiety disorder experiences intense worries about health but
his or her focus on cooccurring somatic symptoms is minimal.
5. Abnormal or excessive health-related behaviors that may be observed
in individuals with somatic symptom disorder include repeated
checking for health-related abnormalities, high health care utilization,
and avoidance of activities that may be felt to worsen health status.
6. Individuals with conversion disorder have functional deficits in the
voluntary motor or sensory nervous system.
7. The psychological or behavioral factors must have a negative impact
on the individual’s underlying general medical condition.
8. The DSM-IV diagnoses of somatization disorder, hypochondriasis,
pain disorder, and undifferentiated somatoform disorder have been
largely subsumed under somatic symptom disorder in DSM-5.
9. In factitious disorder the individual is purposely feigning or inducing
symptoms and signs of disease with the aim of seeking the sick role.
10. The main differential diagnostic consideration in conversion disorder
is neurological or other medical conditions.
13
Most adults with pica have intellectual disability, but pregnant women
of average intelligence may also engage in ingestion of nonnutritive or
nonfood items. It is unclear why pregnant women engage in nonfood
ingestion, but some researchers theorize that the behavior is related to
vitamin deficiencies during pregnancy. Little is known about the prevalence
of pica in individuals of different ethnic backgrounds. Even if a person
comes from a culture with a spiritual practice of nonfood ingestion, the
behavior would qualify for a diagnosis of pica if he or she does not identify
the eating behavior as equivalent to the cultural practice.
Differential Diagnosis
Pica can be diagnosed simultaneously with other disorders, except these
three main conflicting diagnoses: anorexia nervosa (if the ingestion of
nonfood is used by the person to control appetite), factitious disorder (if the
nonfood ingestion is a means to feign symptoms of illness), and nonsuicidal
self-injury (if the person swallows objects such as needles).
Pica may be diagnosed in the presence of a gastrointestinal condition,
because some nonfood ingestion may lead to complications such as
intestinal obstruction or mechanical bowel problems. In fact, medical
complications are sometimes the way in which the disordered eating
behavior is discovered. Pica is sometimes related to neglect or lack of
supervision, and it is commonly associated with intellectual disability and
autism spectrum disorder. It is also sometimes present in individuals with
schizophrenia and obsessive-compulsive disorder. Individuals with
trichotillomania (hair-pulling disorder) or excoriation (skin-picking)
disorder may eat their hair or skin, resulting in pica if the nonfood eating is
severe enough to warrant clinical attention. Finally, women may develop
pica in response to odd cravings during pregnancy.
See DSM-5 for additional disorders to consider in the differential
diagnosis. Also refer to the discussions of comorbidity and differential
diagnosis in their respective sections of DSM-5.
Summary
• Pica is characterized by the eating of nonfood items that is severe
enough to warrant clinical attention.
• Children younger than age 2 years are not diagnosed with pica, because
eating nonfoods may be developmentally appropriate.
• Individuals with pica may have another diagnosis if the eating behavior
is severe enough to warrant clinical attention directly.
• Pica is often comorbid with autism spectrum disorder and intellectual
disability (intellectual developmental disorder).
IN-DEPTH DIAGNOSIS
Anorexia Nervosa
Angela is a 14-year-old Asian American girl presenting with a 20-pound weight loss over the
past 3 months. She is currently in the 4th percentile for body mass index (BMI), despite being in
the 25th percentile throughout most of her childhood. She denies having a problem with her
eating, reporting that her eating changes have simply been an effort to be healthy. She has cut out
dairy products, stating that they make her stomach upset, and has cut back on meat intake
because she believes it is unhealthy. She refuses to eat what her mother prepares for dinner
because it is “gross” and “greasy.” Her daily food intake is often restricted to a small bowl of
oatmeal, fruit, and a small salad without dressing. She runs cross-country at school but reports
feeling more tired lately and unable to keep up with her team. When asked about fear of
becoming fat, she denies it, but she refuses to increase her food intake, even of “healthy foods,”
suggesting discomfort with the prospect of weight gain.
This case is atypical for a few reasons. Mr. Miller is male and his age at
onset is past the prime adolescent years. Although older males with
anorexia nervosa are less common, they do present for treatment and can
meet criteria for the disorder. Furthermore, this man’s concerns about his
body and general anxiety did not precede onset of the disorder, which is a
less typical order of events; however, food restriction that occurs for a non-
body-related reason, such as depression, stress, or a change in dietary
preference, can result in body consciousness, often through reinforcing
comments from others about initial weight loss. These individuals often
deny obsession with food initially but report that over time, they find it
difficult to focus on other things and continually think about their next meal
and how many calories to allow themselves to eat.
Differential Diagnosis
Low body weight alone could indicate a number of diagnoses, including
some general medical conditions. Individuals with low weight due to a
medical condition, however, are typically aware of the seriousness of their
low weight and would willingly gain weight if they were able. Major
depressive disorder can be associated with loss of appetite and subsequent
weight loss, but again, these individuals often desire weight regain and
acknowledge the low weight as a problem. Schizophrenia and substance use
disorders are sometimes associated with altered eating behavior or poor
nutrition, but individuals with these disorders do not endorse a fear of
weight gain. Social anxiety disorder (social phobia), obsessive-compulsive
disorder, and body dysmorphic disorder may have food- and body-related
symptom presentations. If an individual meets criteria for anorexia nervosa
and only presents the eating-related symptoms of social anxiety disorder or
obsessive-compulsive disorder, the second diagnosis is not made. If the
body concerns in body dysmorphic disorder are unrelated to shape and
weight (e.g., the person feels his or her nose is too big), an additional
diagnosis should be made. Bulimia nervosa would be the proper diagnosis
if binge eating and purging are present and body weight is not low.
Avoidant/restrictive food intake disorder is the proper diagnosis if food
restriction is not accompanied by body image disturbance.
Individuals with anorexia nervosa may appear sluggish and withdrawn
due to poor nourishment and desire to refrain from social situations where
food may be present. Obsessive thinking about food and weight are
common, as are desires to cook for others. Individuals with anorexia
nervosa also tend to be rigid, rule bound, and harm avoidant. Some
individuals present with excessive exercise, which may precede the
disorder. If they do not present for treatment earlier at the urgings of family,
some patients will present medically due to bradycardia, orthostatic
hypotension, or frequent bone breaks due to low bone density.
See DSM-5 for additional disorders to consider in the differential
diagnosis. Also refer to the discussions of comorbidity and differential
diagnosis in their respective sections of DSM-5.
Summary
• Anorexia nervosa is characterized by an inability to maintain normal
weight due to the restriction of food intake.
• Also present is an intense fear of weight gain or behavior that suggests
an underlying fear of weight gain, such as behavior that sabotages
attempts to reach a healthy weight range, even if the individual will not
verbalize a fear of weight gain.
• The diagnosis of anorexia nervosa requires that the person have an
overvaluation of weight and shape, which entails placing a great
emphasis on weight and shape when determining self-worth.
• The weight loss in anorexia nervosa is not simply the consequence of a
medical condition.
• Individuals with anorexia nervosa may or may not engage in frequent
binge eating and purging.
IN-DEPTH DIAGNOSIS
Bulimia Nervosa
Samantha is a 16-year-old girl reporting obsessions about food and eating, as well as daily binge
eating followed by self-induced vomiting. She reports eating breakfast and then going back for
more food after her mother leaves for work. She eats, for example, five pieces of dense French
toast with maple syrup. She reports vomiting afterward because of guilt over how much she ate
and fear of weight gain. She eats lunch later but follows a healthy sandwich with a pint of ice
cream and subsequently vomits. She reports having blood in her vomit occasionally.
In Ms. Woods’s case, the onset of the disorder was much later than the
typical onset during late adolescence or early adulthood. However, stressful
life events can trigger onset of the disorder. It is also of note that vomiting
did not begin as a compensatory behavior but became one over time.
Individuals with onset in adulthood may feel even more worried about
consequences of weight gain if weight is something with which they have
struggled. Additionally, perhaps due to a greater awareness of negative
consequences of their behavior, they may deliberately change compensatory
behaviors during the illness to avoid such things as tooth decay. Finally,
although bulimia nervosa is more common in white women, it does occur in
ethnic minority groups, including blacks.
Differential Diagnosis
Bulimia nervosa must be differentiated from other feeding and eating
disorders, including anorexia nervosa, binge-eating/purging type, and
binge-eating disorder. The key difference between bulimia nervosa and
anorexia nervosa, binge-eating/purging type, is the current body weight. It
is common for individuals to move from one diagnosis to the other
depending on body weight, so evaluating current body weight and behavior
is important. If binge eating and purging occur only during periods of low
weight, bulimia nervosa criteria are not met. A diagnosis of binge-eating
disorder may be given if regular compensatory behavior is not present.
Some neurological or medical conditions, such as Kleine-Levin syndrome,
can affect eating behaviors, but overvaluation of shape and weight is not
present. Depressed mood is common in bulimia nervosa, and overeating is
common in major depressive disorder with atypical features. However,
overvaluation of shape and weight and compensatory behaviors are not as
common in major depressive disorder outside of an additional diagnosis of
bulimia nervosa. Binge eating may be present as an impulsive behavior in
borderline personality disorder, but again, overvaluation of shape and
weight is not present.
Individuals with bulimia nervosa often report higher levels of negative
affect and depressed mood than do healthy individuals. They often report
body dissatisfaction and may report a history of dieting attempts to control
their shape or weight. Often, this unsuccessful dieting leads to patterns of
disordered eating, including periods of food restriction followed by binge
eating and purging. For some individuals, binge eating seems to be tightly
related to their mood, and both binge eating and purging may be done to
improve their mood. For others, there may be a strong craving for food or
obsession about eating, followed by guilt and shame about eating and fear
of weight gain. Such guilt, shame, and fear drive the motivation to engage
in compensatory behavior.
See DSM-5 for additional disorders to consider in the differential
diagnosis. Also refer to the discussions of comorbidity and differential
diagnosis in their respective sections of DSM-5.
Summary
• Individuals with bulimia nervosa have recurrent (on average, at least
onceweekly) binge eating and compensatory behaviors.
• Binge-eating episodes must constitute a large amount of food in a
discrete period of time (e.g., 2 hours) and must be accompanied by a
feeling of loss of control.
• Overvaluation of weight and shape must be present, which includes
placing an emphasis on weight and shape in determination of self-
worth.
• Compensatory behaviors may be purging, which includes self-induced
vomiting or excessive laxative or diuretic use; fasting; or excessive
exercise. Exercise is considered excessive when it is functionally
impairing by either interrupting other social or work/school activities or
resulting in medical consequences.
• All symptoms occur at least weekly on average for at least 3 months.
• The symptoms of bulimia nervosa are not present solely during an
episode of anorexia nervosa; in other words, binge eating and
compensatory behaviors must be present even when the individual is
not underweight and meeting criteria for anorexia.
SUMMARY
Feeding and Eating Disorders
The category of feeding and eating disorders includes symptom
presentations characterized by a disturbance in typical eating patterns. This
disturbance may consist of eating nonnutritive substances, as in pica;
overall restriction of food intake, as in avoidant/restrictive food intake
disorder and anorexia nervosa; repetitive and abnormal regurgitation of
food, as in rumination disorder; or binge eating, as in bulimia nervosa and
binge-eating disorder. Some, but not all, of the disorders occur primarily in
females and include disturbance of body image or overconcern with weight
and shape. Most of the disorders have onset during childhood or
adolescence, although adult onset can occur. Because of the nutritive impact
of eating disorders, medical evaluations are important to assess for medical
consequences and ensure no other medical cause for the disordered eating.
Additionally, the medical complications can be quite severe and, in some
cases, lead to death. Indeed, anorexia nervosa has the highest mortality rate
of all psychiatric illnesses. Thus, prompt diagnosis and treatment are
important.
Diagnostic Pearls
• Although eating disorders are commonly thought to affect
predominantly females, this predominance is only true of anorexia
nervosa and bulimia nervosa. Binge-eating disorder is only
slightly more prevalent in females; and pica, rumination disorder,
and avoidant/restrictive food intake disorder are equally prevalent
in both genders.
• Anorexia nervosa and bulimia nervosa both include a disturbance
in body image or overvaluation of shape and weight on self-
evaluation. This disturbance is not present in avoidant/restrictive
food intake disorder and may or may not be present in other
diagnoses.
• Age at onset for all feeding and eating disorders is generally
before adulthood, although there are exceptions. Onset for bulimia
nervosa and binge-eating disorder is typically in late adolescence
and early adulthood. Onset for anorexia nervosa is early to late
adolescence; and onset for pica, rumination disorder, and
avoidant/restrictive food intake disorder is often younger.
• Anorexia nervosa poses the highest mortality rate of all
psychiatric illnesses. Thus, a diagnosis of anorexia nervosa
supersedes diagnoses of other feeding and eating disorders to
ensure adequate treatment.
• Adolescents are often secretive about their eating and may be poor
reporters of their behaviors. Additionally, binge eating and
compensatory behaviors may occur in secret, so parents and
significant others may not be aware. It is important to get whatever
collateral information is available and also attempt to remain
nonjudgmental and compassionate during assessment to help
reduce shame and guilt about behaviors.
Self-Assessment
Key Concepts: Double-Check Your Knowledge
What is the relevance of the following concepts to the various feeding and
eating disorders?
Case-Based Questions
PART A
Jennifer is a 14-year-old Hispanic girl who reports restricting her food intake over the past few
months because of discomfort in her stomach. She reports feeling so badly that she also makes
herself throw up, hoping that it will alleviate the pain. Additionally, she sometimes feels severe
hunger after periods of food restriction, which leads to loss of control in eating binges followed
by self-induced vomiting to prevent abdominal pain. She has lost 20 pounds in the past 2
months, which puts her overall body weight in the 3rd percentile for her age, sex, and height.
She is being hospitalized for bradycardia and requires enteral feeding because of her persistent
food refusal.
PART B
Jennifer’s medical doctors cannot find any clear medical basis for her abdominal pain. They
believe that she has irritable bowel syndrome. Although the doctors offered recommendations
for decreasing her discomfort, she continues to refuse food. Upon release from the hospital after
gaining weight (to the 10th percentile) through enteral feeding, she resumes her pattern of food
restriction and occasional binge eating and purging.
PART C
After discharge from the hospital and cessation of the enteral feeding, Jennifer’s weight drops
again. She denies concern about shape and weight and reports that her eating patterns are
entirely due to abdominal pain. However, the doctors report that most individuals with irritable
bowel syndrome are able to eat normally, even if they report some discomfort.
Which diagnosis seems most appropriate? Because the persistent food
restriction appears to exist beyond what would be reasonably expected
given her medical condition and she continues to require enteral feeding,
Jennifer meets criteria for avoidant/restrictive food intake disorder.
Short-Answer Questions
1. Which two of the feeding and eating disorders require body image
disturbance or an overemphasis on weight and shape on self-evaluation?
2. What two characteristics are necessary for an eating episode to be
considered binge eating?
3. What is the best way to differentiate anorexia nervosa from
avoidant/restrictive food intake disorder?
4. List the order of precedence for diagnoses of the feeding and eating
disorders (other than pica).
5. Which feeding and eating disorder has onset from early to late
adolescence and is often preceded by an overly anxious and harm-
avoidant temperament?
6. Which of the feeding and eating disorders have greater prevalence in
females?
7. What is the duration of time that symptoms must be present to meet
diagnostic criteria for pica and rumination disorder?
8. Which of the feeding and eating disorders can be diagnosed in addition
to the others within the category?
9. How is avoidant/restrictive food intake disorder different from a
gastrointestinal problem?
10. When can both anorexia nervosa and obsessive-compulsive disorder be
diagnosed?
Answers
1. Anorexia nervosa and bulimia nervosa require body image
disturbance or an overemphasis on weight and shape on self-
evaluation.
2. Binge eating involves a large amount of food and a feeling of loss of
control.
3. Individuals with anorexia nervosa also place undue emphasis on
weight and shape and have disturbance in their body image.
4. The following is the order of precedence for diagnoses of the feeding
and eating disorders (other than pica): anorexia nervosa, bulimia
nervosa, avoidant/restrictive food intake disorder, binge-eating
disorder, and rumination disorder.
5. Anorexia nervosa has onset from early to late adolescence and is often
preceded by an overly anxious and harm-avoidant temperament.
6. Anorexia nervosa and bulimia nervosa and, to a lesser extent, binge-
eating disorder are more prevalent in females.
7. Symptoms must be present for 1 month to meet diagnostic criteria for
pica and rumination disorder.
8. Pica can be diagnosed in addition to other feeding and eating
disorders.
9. Avoidant/restrictive food intake disorder can be diagnosed in the
presence of a gastrointestinal disorder, but the disturbance of intake
must be beyond what is directly accountable by the medical condition.
Furthermore, some individuals may have lingering difficulties eating
foods despite management of physical symptoms.
10. When diagnostic criteria for anorexia nervosa have been met, yet
significant obsessions and compulsions not related to food or body
image are also present, an additional diagnosis of obsessive-
compulsive disorder is considered.
14
Elimination Disorders
Jennifer Derenne, M.D.
Kathleen Kara Fitzpatrick, Ph.D.
IN-DEPTH DIAGNOSIS
Encopresis
Milo is a 10-year-old boy who was referred from his local pediatric gastroenterologist because of
a history of soiling in his underwear. The specialist has ruled out medical causes of these
difficulties. Currently, voiding episodes of full, hard stools most often occur in the afternoon,
after a day at school, approximately twice per week. Furthermore, he has frequent fecal overflow
and soiling of his underwear. He describes being teased for being “smelly” and has attempted to
avoid school for fear of soiling himself on the school bus or at the end of the school day. Milo
met initial toilet training milestones within normal limits, achieving nocturnal bowel continence
by age 2.5 and daytime bowel continence and urinary continence at age 3. He has infrequent
episodes of nocturnal enuresis, approximately once per week. Following a bout of severe
stomach flu, Milo significantly restricted his intake and subsequently developed constipation.
Despite efforts to maintain Milo’s regular stooling with laxatives and dietary maintenance (e.g.,
a high-fiber diet), Milo’s mother describes him as appearing to deliberately retain his feces,
evidenced by sphincter tightening and toe walking. She notes that at times he does not seem
aware that he needs to use the bathroom and will often deny a need to defecate despite multiple
reminders. Milo reports that he often does not feel the need “to go” until he experiences an
intense urge or fecal overflow. Medical evaluations have ruled out physical causes, but Milo
continues to have high volumes of stool, evident on abdominal examination, and passes stools
only twice per week. The family has worked to establish regular fiber in their diet and through
supplements but admit that they are inconsistent and that Milo resists the increased vegetable
intake. They have otherwise attempted to avoid shaming or discussing these difficulties with
Milo, expecting him to deposit his feces in the toilet and place his soiled underwear in a bag in
the laundry area. Milo is described by his parents and teachers as a shy, somewhat withdrawn
boy who avoids his peers and has a history of school avoidance, complaining of gastrointestinal
symptoms. His mother reports he had difficulty separating when younger, but this resolved with
his entry to elementary school. He does not have any history of disruptive or aggressive
behaviors.
Differential Diagnosis
The differential diagnosis of encopresis centers on excluding the presence
of medical conditions or substances that can cause fecal incontinence,
including Hirschsprung disease, inflammatory bowel disorders, a range of
gastrointestinal difficulties, neurological impairment, spinal injuries that
impair sensation in the bowel region or control over bowel evacuation,
laxative abuse or overuse, and metabolic disorders. Exposure to
medications can influence encopresis, most often by increasing
constipation. As such, many medications may be implicated in exacerbating
encopresis.
Children with encopresis may also exhibit medical and behavioral
problems at a higher rate than children without the disorder. Specific
learning disorder, anxiety disorders, depressive disorders, attention-
deficit/hyperactivity disorder (ADHD), and trauma- and stressor-related
disorders all have high rates of comorbidity with encopresis. Encopresis
should also be evaluated in children receiving treatment for other medical
difficulties, particularly in hospital settings.
See DSM-5 for additional disorders to consider in the differential
diagnosis. Also refer to the discussions of comorbidity and differential
diagnosis in their respective sections of DSM-5.
Summary
• The diagnosis of encopresis must be made in children over age 4 years
(or developmental equivalent).
• Encopresis is not diagnosed in the presence of medical illness or
medication use that can result in fecal incontinence.
• Encopresis has two specifiers that are important for directing treatment:
“with constipation and overflow incontinence” and “without
constipation and overflow incontinence.”
• Encopresis can lead to significant difficulty in the child’s academic,
social, and home functioning.
IN-DEPTH DIAGNOSIS
Enuresis
Sally is an 8-year-old girl who is brought to her pediatrician’s office for evaluation of nighttime
wetting. She was very distressed about a recent overnight trip to visit relatives; her cousin
noticed that she wet the bed and began teasing her. Sally began toilet training at age 3 and
seemed interested in wearing “big girl panties” featuring her favorite cartoon characters. She is
dry during the day and is able to stay dry for a night or two but has wetting accidents most
nights. There have been no consistent periods of nighttime dryness. Sally’s parents try to be
patient but admit that they are stressed with work and finances and sometimes yell when Sally
has an accident. They deny corporal punishment. Disposable undergarments are expensive, and
Sally’s mom, who does most of the laundry, recently went back to work and does not have the
time or energy to wash sheets every day. The parents do not limit fluids in the evening, and Sally
likes to drink fruit juice. She is proud of drinking a big glass of milk at dinner, which is typically
2–3 hours before bed. They have tried sticker charts and point systems to reward dry nights but
gave up after a few days because “it didn’t seem to be working.” Sally’s physical examination is
normal, as is her screening urinalysis.
Sally’s presentation is very typical—she is dry during the day and does
have some dry nights. However, she is over age 5 and has never been
completely dry. Therefore, she has primary nocturnal diuresis. Nothing on
examination indicates genitourinary, gastrointestinal, or neurological
abnormalities. Similarly, her screening urinalysis does not reveal evidence
of diabetes insipidus, diabetes mellitus, or a urinary tract infection. Her
mom’s return to work and the family’s overall stress level are likely
affecting Sally and making it difficult for her parents to be neutral, calm,
and consistent with behavioral plans that would likely be effective if they
gave them more time. It is important to assess whether the parents’
frustration is leading to any sort of maltreatment, but it is very important to
stress that most children with enuresis are not being abused.
Differential Diagnosis
The differential diagnosis of enuresis centers on excluding the presence of
medical conditions or substances that can cause urinary urgency or
increased urine production, such as untreated diabetes insipidus or diabetes
mellitus, an acute urinary tract infection, vaginal reflux, or neurogenic
bladder related to spinal cord pathology (also lazy bladder syndrome,
detrusor-sphincter dyssynergia, and Hinman syndrome). Exposure to
medications such as atypical antipsychotics, lithium carbonate, and
diuretics must also be excluded.
Children with enuresis may exhibit behavioral problems at a higher rate
than other children. Developmental difficulties such as learning disabilities,
speech delay, and fine and gross motor delays may be present. In children
with other developmental delays, it is important to determine the child’s
developmental age rather than rely solely on chronological age to diagnose
enuresis.
Enuresis is not diagnosed in the presence of a neurogenic bladder or a
general medical condition that causes polyuria (increased urination) or
urgency (e.g., untreated diabetes mellitus or diabetes insipidus), during an
acute urinary tract infection, or during treatment with an antipsychotic.
However, a diagnosis of enuresis is compatible with such conditions if
urinary incontinence was regularly present before the development of the
general medical condition or if it persists after the institution of appropriate
treatment.
See DSM-5 for additional disorders to consider in the differential
diagnosis. Also refer to the discussions of comorbidity and differential
diagnosis in their respective sections of DSM-5.
Summary
• The diagnosis of enuresis must be made in children over age 5 years
(or developmental equivalent).
• Enuresis is not diagnosed in the presence of medical illness or use of
medications that can result in polyuria or urge incontinence.
• Enuresis can lead to significant difficulty in the child’s academic,
social, and home functioning.
SUMMARY
Elimination Disorders
Enuresis and encopresis characteristically manifest in children and
adolescents and can be extremely challenging to diagnose and treat.
Because a number of medical conditions and medications can cause
symptoms of bowel and bladder incontinence, it is essential that the mental
health clinician work in concert with a medical provider to properly identify
the biological, psychological, and social factors that contribute to the
overall clinical picture. Children with elimination disorders are more likely
to also have developmental delays, speech and language difficulties,
learning disabilities, ADHD, and other behavioral problems.
Diagnostic Pearls
• Only a minority of elimination disorders can be traced to an
underlying anatomical abnormality, malabsorption syndrome,
endocrine issue, or neurological condition. Despite this, medical
evaluation is a critical component of the evaluation.
• Bowel continence occurs before urinary continence, and children
are expected to be consistently using the toilet for bowel voiding
by age 4 (or developmental equivalent).
• Nocturnal encopresis is rare and is generally related to overflow
incontinence from constipation; the majority of cases occur during
the day.
• Children with ADHD have about a 30% greater chance of
experiencing enuresis. This increase is likely related to a
neurochemical effect rather than inattention or impulsivity.
• Nocturnal enuresis can be diagnosed on the basis of history,
physical examination, and a screening urinalysis. No additional
testing is required in the absence of abnormalities, but additional
testing may be required in cases of recurrent infection.
• Daytime incontinence or diurnal enuresis may be characterized as
a problem of storage or emptying. In addition to a careful history
and physical examination, children should also undergo urinalysis,
urine culture, bladder ultrasonography, and uroflow testing.
Self-Assessment
Key Concepts: Double-Check Your Knowledge
What is the relevance of the following concepts to the various elimination
disorders?
Case-Based Questions
PART A
Delia is an 11-year-old girl who presents with her foster mother to her pediatrician with concerns
about fecal smearing, as well as passage of bowel movements in a cabinet under the sink in the
bathroom or into her underwear. Her early developmental history is generally unknown, but she
was removed from her biological family due to concerns regarding neglect and physical abuse.
Physical examinations have ruled out physical causes of fecal incontinence and are not
suggestive of anal trauma. Since joining her foster family, she has never toileted appropriately
with defecation and was initially enuretic, but she has responded to efforts to assist her with
daytime dryness. She continues to wet several times per week. She is engaged in toilet training,
and her foster parents are very patient with her. She passes regular stools and has fecal staining,
which her foster mother relates to lack of wiping following bowel evacuation. The family has
followed voiding schedules and incentive programs, with very limited success toward bowel
continence. The family has not used stool softeners or laxatives, and currently Delia is not taking
any prescription or over-the-counter medications. The doctor has ruled out constipation, and the
family reports that at times Delia’s bowel movements are appropriately soft and of sufficient
bulk. They did not note blood in her stool but observed that some stools were soft and appeared
to have a mucus-like texture or clear, foul-smelling discharge. Delia appears to know that she
needs to have a bowel movement at times and will hide in the bathroom but will not use the
toilet, preferring to evacuate her bowels under the sink instead. Outside of toileting concerns,
Delia has been defiant and aggressive in the home, occasionally engaging in head-banging and
self-scratching behaviors. She has been found to be hoarding food in her room, although not
eating it but allowing it to rot. She has learning difficulties, which may be related to inconsistent
education in her early years, because her family reportedly moved frequently. She has presented
with some dissociative symptoms and flat affect at times, but she is responsive at other times.
She can be difficult to establish rapport with, although her foster mother clearly has a caring and
firm relationship with her. Delia has regressive behaviors with change, such as the foster
family’s older biological children returning home.
PART B
Delia’s physical examination is significant for the presence of areas of inflammation of the
bowel, consistent with ulcerative colitis. Furthermore, tracking of her bowel habits notes
sensitivities to seasonings, including garlic and hot spices, despite her preference for these
flavors. Use of steroid treatment significantly improves the consistency of her stools. However,
challenges in voiding appropriately continue.
Short-Answer Questions
1. By what age are children typically expected to no longer have daytime
bowel incontinence?
2. Which specialists should be consulted for children presenting with
encopresis?
3. Which medical disorder should be strongly considered as a rule-out,
particularly for children who never achieve bowel continence?
4. Name at least three psychiatric conditions that may be comorbid with
encopresis.
5. By what age are children typically expected to be toilet trained and fully
“dry”?
6. What tests must be ordered for children presenting with nocturnal
enuresis?
7. List three medical conditions associated with urinary incontinence.
8. Name three psychiatric conditions that may be comorbid with enuresis.
Answers
1. Children typically are expected to no longer have daytime bowel
incontinence by age 4 years.
2. Specialists in pediatric gastroenterology and possibly neurology and
endocrinology may be consulted for children presenting with
encopresis.
3. Hirschsprung disease should be strongly considered as a rule-out,
particularly for children who never achieve bowel continence.
4. Psychiatric conditions that may be comorbid with encopresis include
specific learning disorder, anxiety disorders, depressive disorders,
ADHD, and trauma- and stressor-related disorders.
5. Children are typically expected to be toilet trained and fully “dry” by
age 5 (or developmental equivalent).
6. Screening urinalysis must be ordered for children presenting with
nocturnal enuresis.
7. Medical conditions associated with urinary incontinence include
diabetes insipidus, diabetes mellitus, acute urinary tract infection, and
neurogenic bladder.
8. Psychiatric conditions that may be comorbid with enuresis include
encopresis, ADHD, and sleep disorders.
15
Sleep-Wake Disorders
Michelle Primeau, M.D.
Ruth O’Hara, Ph.D.
Sleep complaints are common in everyday life. Most people have had
the experience of having some stressful experience, such as a job interview,
and being unable to sleep for a few days before the event. However,
disrupted sleep may reflect an underlying sleep disorder that leads to or
exacerbates an existing psychiatric or other medical condition. Sleep
disturbances can reflect very different sleep disorders, many of which have
established treatments. Diagnosing and targeting co-occurring sleep
disorders can help alleviate psychiatric symptoms.
Some sleep-wake disorders occur only during sleep; in fact, a person
may be unaware that any unusual behavior is occurring in his or her sleep.
For example, children with NREM sleep arousal disorders, such as
sleepwalking or sleep terrors, may not have any recollection of disruption
the preceding night, even though their behavior may be quite unsettling to
their parents.
Other sleep disorders are characterized by symptoms occurring during
wakefulness. For example, RLS is characterized by a subjective discomfort
in the legs with inactivity that is alleviated by movement.
Sleep disorders frequently co-occur with psychiatric conditions, and can
reduce an individual’s quality of life. Given the important interactions
between sleep-wake disorders and psychiatric illness, diagnosing co-
occurring sleep disorders is very important for effective long-term
management of chronic, recurrent psychiatric illnesses.
IN-DEPTH DIAGNOSIS
Insomnia Disorder
Ms. Albers, a 32-year-old woman, presents with a complaint of insomnia; she previously had
brief periods of insomnia, usually related to situational stressors or travel and relieved by a
sleeping pill, but for the past 6 months, she has had increasing difficulty with falling asleep,
despite taking a sleeping pill nightly. Nine months ago, she started noticing that she would wake
up in the middle of the night and worry about work or her upcoming wedding, but more recently
she has progressed to difficulties falling asleep at the beginning of the night. She finds that she is
now worrying during the day about her inability to sleep and has come to dread the nights. She
feels that her lack of sleep is causing her to be more irritable, have decreased concentration, and
be ineffective at work. She has started canceling social outings and early-morning meetings to
accommodate her sleep. She has become so preoccupied with her sleep that her primary care
physician prescribed a benzodiazepine to help with her anxiety, but she is reluctant to take it,
because “the only thing I’m worried about is my sleep.”
Differential Diagnosis
The differential diagnosis of insomnia disorder includes normal sleep
variations, such as those who physiologically require less sleep, or age-
related sleep changes. Situational/acute insomnia may be brief, and
precipitated by a change in life events. If occurring at least 3 nights per
week, with clinically significant impairment, but not meeting the 3-month
mark, a diagnosis of other specified insomnia disorder may be made.
Circadian rhythm sleep-wake disorder is the primary diagnosis to
consider when evaluating a person for insomnia disorder. Frequently,
individuals with circadian rhythm sleep-wake disorder, delayed sleep phase
type, are mistaken for having insomnia disorder because of their difficulty
initiating sleep. These individuals tend to fall asleep and stay asleep later
than is considered typical and in a way that interferes with their social or
occupational functioning. In individuals whose circadian phase is advanced,
they may describe excessive sleepiness in the evenings and early-morning
awakenings. However, when going to bed at a time better aligned with their
natural rhythms, these individuals do not actually have difficulty initiating
or maintaining sleep. Similarly, circadian rhythm sleep-wake disorder,
advanced sleep phase type, may manifest in an older adult with early-
morning awakening. These individuals tend to fall asleep earlier in the
evenings than intended, awaken earlier, and be unable to return to sleep.
Circadian rhythm sleep-wake disorder, shift work type, differs from
insomnia disorder by the history of recent shift work.
RLS can manifest as difficulty falling asleep or returning to sleep
because of intrusive discomfort, usually in the legs. Individuals with
insomnia disorder often report “tossing and turning,” but individuals with
RLS report an inability to sit still or feeling “tingling,” “creepy crawly,” or
“as if my legs have to sneeze,” which occurs around the same time of day
or with being sedentary and improves with movement.
Other sleep-wake disorders to consider in the differential diagnosis of
insomnia disorder include the following: Breathing-related sleep disorder is
difficult to diagnose with history alone, but indicators of risk for breathing-
related sleep disorder include being obese, snoring, witnessed apneas, and
excessive daytime sleepiness. Individuals with narcolepsy sometimes may
have comorbid insomnia, although the condition tends to be characterized
by hypersomnia. Parasomnias are characterized specifically by events
occurring while the person is asleep, and individuals usually are unaware of
behaviors unless they awaken from them or are told by a witness.
Substance/medication-induced sleep disorder may overlap with insomnia
disorder but occurs in the context of acute intoxication or withdrawal from
a substance or medication and is chronologically related to substance or
medication use.
Insomnia disorder may co-occur with other sleep-wake disorders and
psychiatric conditions, such as depression or anxiety, and the comorbid
condition often may be seen as overlapping or contributing to the insomnia
disorder.
See DSM-5 for additional disorders to consider in the differential
diagnosis. Also refer to the discussions of comorbidity and differential
diagnosis in their respective sections of DSM-5.
Summary
• Insomnia is a common complaint, and the symptoms have an impact
not only on the sleep period but also daytime functioning.
• Insomnia is frequently comorbid with other medical and psychiatric
conditions.
• A thorough history of the course of symptoms and how the insomnia
manifests at night gives insight into the nature of the individual’s
problem and can help direct future treatment.
• Diagnosis requires ruling out other sleep disorders, such as circadian
rhythm sleep-wake disorder or breathing-related sleep disorder.
IN-DEPTH DIAGNOSIS
Narcolepsy
Annie, a 6-year-old girl without prior medical history, presents with her parents for evaluation of
an acute change in her behavior. Her parents report that she had been her usual self until 3
months ago, when she acquired tonsillitis, and she has not been the same since. They describe
that she appears unable to stay awake during the day, frequently falling sleep at school and at
home, even when engaged in an activity or conversation. Her nighttime sleep period has become
disrupted as well, with apparent vivid, terrifying dreams, some of which she physically reacts to,
and she has had minor injuries from falling out of bed trying to run from whatever she was
seeing. Her parents also note that she appears “floppy”—with her mouth dropping open—or
unable to hold up her head. On one occasion, her father told a joke at dinner, and she laughed so
hard that her head fell into her spaghetti. There is no family history of anything similar, and her
siblings remain healthy.
Nocturnal polysomnography demonstrates an apnea hypopnea index (AHI) of 0.5 events per
hour and REM sleep latency of 15 minutes. Next-day multiple sleep latency test (MSLT) had 5/5
sleep-onset REM periods with a sleep latency of 6 minutes. Lumbar puncture was not done,
given the classic presentation of symptoms, but human leukocyte antigen (HLA) typing
demonstrated Annie to be a carrier of HLA-DQB1*06:02.
Annie demonstrates the classic abrupt onset of narcolepsy. She has brief
periods of excessive sleepiness that she is unable to overcome by engaging
in activity, as well as classic cataplexy. Early in the condition, children
often demonstrate hypotonia, with parents describing them as “floppy,” or
have automatisms, such as tongue thrusting, that are atypical for the child.
As the condition progresses, cataplectic “attacks” may be seen. These are
triggered usually by a positive emotion, such as happiness or surprise, and
can be dramatic, as in Annie’s case, or even cause the individual to fall to
the ground. Not included in the diagnostic criteria of narcolepsy, but also
suggestive, is REM sleep behavior disorder, in which the person appears to
be acting out terrifying imagery from a dream. It is also common for
individuals with narcolepsy to have sleep paralysis or hallucinations when
falling asleep or when awakening, representing REM sleep intruding into
wakefulness, which can be quite disturbing to them.
Formal testing is required to make the diagnosis of narcolepsy,
according to DSM-5. Nocturnal polysomnography can rule out the presence
of breathing-related sleep disorders, which are much more common than
narcolepsy and may frequently be comorbid with narcolepsy. The nocturnal
polysomnography may indicate a shortened REM sleep latency (≤15
minutes, instead of the typical 90–120 minutes), or the daytime MSLT must
show two or more sleep-onset REM periods, with a mean sleep latency of
≤8 minutes. Ninety-nine percent of individuals who have narcolepsy are
positive for HLA-DQB1*06:02; however, HLA typing is less specific for
narcolepsy. Low hypocretin-1 levels (narcolepsy with hypocretin deficiency
≤110 pg/mL) are confirmatory for the diagnosis. Lumbar puncture is
required to obtain hypocretin-1 levels.
People often report feeling tired, but this symptom is very nonspecific.
It is helpful to clarify whether a person feels overtly sleepy (e.g., eyes dry,
eyelids heavy, yawning, on the verge of falling asleep) or fatigued (low
energy, no “get-up-and-go”), because sleepiness is associated with sleep-
disordered breathing, sleep deprivation, and narcolepsy, and fatigue is
associated more with insomnia or major depressive disorder. It also can be
helpful to assess risk, because individuals who are excessively sleepy may
have “sleep attacks” even while driving, but those who have fatigue would
be unlikely to fall asleep during an activity. Automatic behaviors may
sometimes be seen as an individual inadvertently falls asleep but tries to
continue the activities he or she was performing. With cataplexy, focused
yet open-ended questions can be helpful. Individuals will often report that
when they are very angry or anxious, they feel weak in the knees or unable
to hold objects in their hands, but this symptom is not typical of cataplexy,
which is elicited by positive emotions. Also, cataplectic attacks typically
last a few seconds, so reports of persistent weakness over hours are also not
typical of cataplexy. History regarding hallucinations is typically elicited;
asking about the timing may indicate whether the hallucinations occur with
falling asleep or waking up. However, it is important to remember that
patients with narcolepsy have instability of sleep and wake periods, and
therefore may have hypnopompic or hypnagogic symptoms associated with
daytime sleep episodes.
Differential Diagnosis
Narcolepsy must first be differentiated from hypersomnias without
hypocretin deficiency. Individuals with these disorders may similarly
complain of fatigue and sleepiness and may even have an MSLT with a
short sleep latency and two or more sleep-onset REM periods. HLA-
DQB1*06:02 may be used to differentiate these disorders. If the HLA
typing is negative, it is highly unlikely that the individual has narcolepsy;
however, if it is positive, the individual may or may not have hypocretin
deficiency. Lumbar puncture for hypocretin-1 in the cerebrospinal fluid
would confirm the diagnosis.
Sleep deprivation and insufficient nocturnal sleep are common reasons
for excessive daytime sleepiness. Sometimes sleepiness may be due to
behavioral factors (e.g., a parent busy with a full-time job, schoolwork, and
children and “without enough hours in the day”) or a circadian
misalignment (e.g., a teenager with circadian phase delay who is unable to
fall asleep until 2:00 A.M. and then must be up at 6:00 A.M. for school, or a
shift worker who works nights and has difficulty sleeping during the day).
Breathing-related sleep disorders (i.e., sleep apnea syndromes) are far
more common than narcolepsy and can cause sleep fragmentation leading
to excessive daytime sleepiness. Individuals with major depressive disorder
may suffer from hypersomnia and fatigue, but they are not typically sleepy
and not likely to have any of the other associated symptoms of cataplexy,
sleep paralysis, or acting out of dreams. Individuals with conversion
disorder (functional neurological symptom disorder) may present with
prolonged, dramatic pseudocataplectic attacks, during which reflexes can be
elicited. These patients also may insist that they slept on the MSLT, but
such sleep is not evident on electroencephalography. In children, excessive
sleepiness may be perceived as a behavioral issue or inattentiveness,
although these children do not present with hyperactivity. Cataplexy,
automatic behaviors, and sleep attacks could be interpreted as seizures,
although when a person has a cataplectic attack, he or she is alert and
conscious and less likely to become injured from the attack than is a person
with seizure disorder; also, seizures are not triggered by emotional stimuli.
Electroencephalography can help in ruling out seizure disorder. Chorea and
pediatric autoimmune neuropsychiatric disorders associated with
streptococcal infections (PANDAS) may be considered in children
developing narcolepsy, particularly because narcolepsy may occur in the
context of acute post–streptococcal infection. Schizophrenia may be
considered in individuals with narcolepsy because of the presence of
hallucinations and may be comorbid with narcolepsy, but persons with only
narcolepsy will not demonstrate the thought disorder or negative symptoms
characteristic of schizophrenia.
See DSM-5 for additional disorders to consider in the differential
diagnosis. Also refer to the discussions of comorbidity and differential
diagnosis in their respective sections of DSM-5.
Summary
• Narcolepsy is characterized by inability to maintain sleep and
wakefulness and can be difficult to diagnose because of the overlap of
daytime sleepiness with other disorders.
• Cataplexy—a brief period of muscle weakness precipitated by a
positive emotion—is a hallmark of the disorder but may not be present
in all individuals with narcolepsy.
• Overnight polysomnography demonstrating REM sleep latency of ≤15
minutes or a daytime MSLT with mean sleep latency of ≤8 minutes and
two or more sleep-onset REM periods can help make the diagnosis, but
could be influenced by factors such as medications or sleep deprivation.
• True confirmation of the diagnosis of narcolepsy can be done by
obtaining the level of hypocretin-1 in an individual’s cerebrospinal
fluid.
IN-DEPTH DIAGNOSIS
Obstructive Sleep Apnea Hypopnea
Mr. Geri, a 52-year-old man with a history of obesity, hypertension, diabetes mellitus,
gastroesophageal reflux disease, and erectile dysfunction, works in a building that contains a
sleep lab. He decided to get evaluated for excessive daytime sleepiness. He reports that he had
always been a hard worker, dedicating long hours to his job, but over the past few years he had
gained increased responsibility that he has been having difficulty maintaining because he
frequently is falling asleep at his computer. He enjoys his work and does not feel bored but notes
that he feels unable to maintain wakefulness when he is inactive during the day. Some days, he
will even take a nap in his car before driving home, because he is so tired that he fears he may
fall asleep while driving. He has not had a bed partner in many years but has been told in the past
that he snores and, on occasion, has “snorted” himself awake.
Physical examination demonstrates a blood pressure of 150/90 mm Hg, body mass index of
37, neck circumference of 19 inches, and modified Mallampati score of 4. On overnight
polysomnography, Mr. Geri had an AHI of 54 events per hour, with his longest apnea lasting 69
seconds and desaturating to 70%.
Differential Diagnosis
Obstructive sleep apnea hypopnea should be differentiated from primary
snoring and other sleep disorders. Ultimately, polysomnography will be
most helpful in differentiating it from other disorders, but there are aspects
of the history that may help in the consideration of other disorders. For
example, a person with a history of congestive heart failure may have
obstructive sleep apnea hypopnea but may also have central sleep apnea
(Cheyne-Stokes breathing). Similarly, a person who takes large doses of
long-acting opioids would also be at risk for having central sleep apnea.
Sleep-related hypoventilation should be considered in a person who is
morbidly obese, takes sedative-hypnotics, or has neuromuscular or
pulmonary conditions. Other sleep disorders that could cause excessive
sleepiness should also be considered, such as narcolepsy, circadian rhythm
sleep-wake disorders, or hypersomnolence disorder—although obstructive
sleep apnea hypopnea may certainly be comorbid with these disorders.
Insomnia disorder is often seen with obstructive sleep apnea hypopnea;
people with insomnia disorder typically complain more of fatigue and are
not sleepy on objective measures of sleepiness. They also tend to
demonstrate significant anxiety regarding sleep. Individuals with nocturnal
panic attacks often report subjective symptoms that overlap quite a bit with
obstructive sleep apnea hypopnea (gasping, choking, heart racing upon
awakening); however, these attacks usually are also seen in daytime panic
attacks, occur less frequently, and would be less likely to be associated with
excessive sleepiness. As in the case of Ricky above, children may present
with symptoms similar to attention-deficit/hyperactivity disorder (such as
hyperactivity, inattentiveness and academic delays) that may improve with
treatment of obstructive sleep apnea hypopnea. Substance/medication-
induced symptoms may mimic obstructive sleep apnea hypopnea. For
example, ingestion of alcohol before bed may cause greater muscle
relaxation and airway collapse. Again, ultimately, polysomnography would
be most helpful in differentiating these disorders.
See DSM-5 for additional disorders to consider in the differential
diagnosis. Also refer to the discussions of comorbidity and differential
diagnosis in their respective sections of DSM-5.
Summary
• Obstructive sleep apnea hypopnea is characterized by snoring,
witnessed apneas (pauses in breathing), or snorting or gasping while
sleeping, or excessive daytime sleepiness, fatigue, or unrefreshing
sleep.
• Polysomnography is required for the diagnosis.
• Individuals may be diagnosed with obstructive sleep apnea hypopnea if
they have polysomnography demonstrating an AHI of at least 5 events
per hour, with symptoms of snoring, pauses in breathing, excessive
sleepiness, fatigue, or unrefreshing sleep; or an AHI ≥15, regardless of
symptoms.
• In persons with excessive sleepiness, it is important to screen for
sleepiness while driving.
IN-DEPTH DIAGNOSIS
Restless Legs Syndrome
Ms. Sanchez is a 67-year-old postmenopausal woman with a history of coronary artery disease,
hypertension, severe obstructive sleep apnea hypopnea, and anxiety, who presents with a
complaint of worsening insomnia. She notes that she recently had been hospitalized for workup
of a gastrointestinal bleed and that ever since she was released from the hospital, she has had
difficulty falling asleep. She finds that each evening while watching the television shows she
normally enjoys, she has begun to feel restless and unsettled and “can’t sit still.” She has
difficulty making it through an entire program without having to get up and walk around; she
will usually feel fine for about 20 minutes after getting up, but then she begins to feel restless
again. This feeling continues, even once she gets into bed, until she is so exhausted that she
eventually falls asleep. She is unable to ignore the sensation, describing it as nonpainful but
“uncomfortable, like my legs have to sneeze.” She is worried, because she had similar symptoms
during her two pregnancies but to a much less severe degree. Aside from movement, she is
unable to identify anything that improves or worsens the feelings. She is not aware of any family
members with similar symptoms. Current medications include aspirin, an antidepressant, and a
diuretic, and she has not had any labs checked since she was discharged from the hospital.
Neurological exam is normal, and sleep apnea remains well controlled with continuous positive
airway pressure.
Differential Diagnosis
Differentiating RLS from other pain conditions primarily in the extremities
is the first important separation. Positional discomfort would occur
intermittently, without an obvious circadian pattern, and would likely
completely resolve with repositioning. Leg cramps may occur intermittently
as well, and often patients can palpate a solid contraction of the muscle
body while it is occurring. Movement can improve the cramp. Peripheral
neuropathy would be suspected in a person with a history suggestive of
peripheral neuropathy (e.g., a person who has diabetes mellitus or has used
neurotoxic agents) and would be of a more chronic, constant nature.
Neuroleptic-induced akathisia would not be expected to have circadian
rhythmicity and would likely have a chronological relationship to
medication initiation or increase. Other pain syndromes might be noted to
worsen with inactivity but are not isolated to a certain time of day, and
claudication would be precipitated by activity in an individual with
peripheral vascular disease. Anxiety or insomnia may be tied to the
perception of interference with sleep and can cause a feeling of restlessness
that would not resolve with movement.
In pediatric cases, positional discomfort or injury should be considered
in the process of arriving at the differential diagnosis. As with adults, these
feelings would not likely occur with a circadian rhythmicity or awaken the
child from sleep with regularity but would occur intermittently.
See DSM-5 for additional disorders to consider in the differential
diagnosis. Also refer to the discussions of comorbidity and differential
diagnosis in their respective sections of DSM-5.
Summary
• RLS requires discomfort or urge to move the legs, worsening with
inactivity, occurrence with a circadian rhythmicity, and improvement
with movement.
• The symptoms cause some sort of impairment to sleep or daytime
functioning.
• Certain details, such as family history, comorbid medical conditions,
medications, ferritin level, and presence of periodic limb movements on
polysomnography, help to support the diagnosis but are not included in
the DSM-5 criteria.
• The symptoms should occur three times per week, for at least 3
months.
SUMMARY
Sleep-Wake Disorders
Sleep-wake disorders can lead to, accompany, or exacerbate many
psychiatric disorders. The diagnosis of sleep-wake disorders is important
for the evaluation and treatment of such mental disorders as depression,
PTSD, and anxiety. DSM-5 gives evidence of the importance of sleep-wake
disorders to psychiatric phenotypes by elevating REM sleep behavior
disorder and RLS to their own diagnostic categories. The state of the
science is such that certain sleep disorders, such as obstructive sleep apnea
hypopnea and narcolepsy, now have available specialized testing. Increased
clinical research has resulted in further refinement in DSM-5 of the
subtypes of circadian rhythm sleep-wake disorders and breathing-related
sleep disorders. In general, the approach to the patient with a sleep-wake
complaint should include a thorough history of behaviors occurring in both
sleep (e.g., snoring, sleepwalking) and wake (e.g., excessive sleepiness,
substance use) states. Collateral information from a bed partner can also be
helpful, because many individuals are unaware of symptoms occurring
while they sleep. Ultimately, certain sleep-wake disorders, such as
obstructive sleep apnea hypopnea, require specialized tests or examinations
and are best referred to a sleep medicine specialist. It is important for the
mental health clinician to understand how sleep may be disordered and how
sleep-wake disorders affect psychiatric and other medical conditions, and to
recognize when it is important to refer a person to a sleep medicine
specialist.
Diagnostic Pearls
• Many people complain of sleep-related problems, but they do not
all have insomnia disorder. A variety of sleep-wake disorders
should be considered.
• It is important to take a thorough sleep history and consider a full
sleep evaluation by a specialist in sleep medicine to assess sleep
complaints.
• Some individuals with primary sleep disorders present to mental
health providers because of psychiatric-type symptoms. Daytime
sleepiness, fatigue, poor concentration, irritability, anxiety, and
hallucinations are just some of the symptoms that people with
sleep disorders may report.
• In general, any person who is obese should be screened for
breathing-related sleep disorders. Individuals with symptoms of
snoring, gasping for breath, or stopping breathing while sleeping,
as well as sleepiness or fatigue, should be referred for a full sleep
evaluation.
• Individuals presenting with excessive daytime sleepiness of any
etiology should be evaluated for safety while driving, and
safeguards should be put in place if they are at risk of falling
asleep while driving.
Self-Assessment
Key Concepts: Double-Check Your Knowledge
What is the relevance of the following concepts to the various sleep-wake
disorders?
• Sleepiness versus fatigue
• Impairment in daytime functioning
• Sleep-related anxiety
• Cataplexy
• Hypocretin deficiency
• Multiple sleep latency test
• Mean sleep latency
• REM sleep latency
• Sleep-onset REM periods
• Apnea
• Hypopnea
• Polysomnography
• Urge to move
• Circadian rhythm
Case-Based Questions
PART A
Mr. Xue, a 45-year-old man on stable-dose, daily methadone maintenance for opioid
dependence, is referred to the sleep clinic for evaluation of sleep fragmentation and daytime
sleepiness. Because of concerns of central sleep apnea and sleep-related hypoventilation, he is
referred for polysomnography.
What is the differential diagnosis? Although obstructive sleep apnea
hypopnea is the most common form of breathing-related sleep disorders,
particularly in a middle-aged man who may have other predisposing factors,
it is important to evaluate for the presence of other types of breathing-
related sleep disorders if he is on high-dose, long-acting opioids.
PART B
Polysomnography reveals that Mr. Xue has obstructive sleep apnea hypopnea and sleep-related
hypoventilation, which are successfully managed with continuous positive airway pressure
(CPAP). After being stable on CPAP for about 1 year, Mr. Xue decides to taper off methadone
with the help of his physician. A few weeks after completion of his taper, he notes increasing
difficulty falling asleep, which had not previously been a problem for him. He is concerned
about the potential impact on his productivity at work.
What are the potential causes of his new difficulty falling asleep? Mr.
Xue seems to have developed substance/medication-induced sleep disorder,
insomnia type, in the context of opioid withdrawal. Perhaps he no longer
has the sedating effect of the opioid medication or, because his breathing
has improved after the opioid was removed, the CPAP is interfering with
his sleep. More history would be helpful in making the diagnosis.
PART C
Upon further questioning, Mr. Xue reports that around the same time each night, he starts to get
an uncomfortable feeling in his legs and cannot sit still, even to watch television. He will pace
for a short period of time, which improves the symptoms, but they often return after about 20
minutes. This feeling keeps him from falling asleep.
Short-Answer Questions
1. Is it correct that an individual must have difficulty initiating sleep in
order to be diagnosed with insomnia?
2. A teenager presents with difficulty falling asleep on school nights. Once
asleep, he is able to remain asleep, but he is difficult to awaken, very
tired during the day, and often falls asleep in class. What is the likely
diagnosis?
3. What laboratory test can confirm the diagnosis of narcolepsy?
4. For a diagnosis of narcolepsy using polysomnography, what duration
must the REM sleep latency be?
5. Is it correct that snoring can indicate the presence of obstructive sleep
apnea hypopnea?
6. What medical comorbidities have been linked to obstructive sleep apnea
hypopnea?
7. What sleep-wake disorder may be seen in an individual with congestive
heart failure?
8. A 72-year-old woman presents for a second opinion on a diagnosis of
major depressive disorder. She started taking an antidepressant for
early-morning awakenings, but it has not helped to change her sleep or
her mood, although she denies significant mood symptoms. What sleep-
wake disorder likely explains her symptoms?
9. A 32-year-old former Marine reports frequent, vivid nightmares
impairing both his sleep and that of his bed partner. He awakens quickly
from the dream but has difficulty returning to sleep. What sleep-wake
disorder diagnosis should be considered?
10. A 62-year-old Vietnam-era veteran presents with a complaint of
“beating up my wife while sleeping.” He reports that when this happens,
he is often having combat-related dreams, and he feels badly that he has
hurt his wife. What is the likely diagnosis?
Answers
1. No. Individuals with insomnia may have difficulty initiating sleep,
difficulty maintaining sleep, early-morning awakening, nonrestorative
sleep, or some combination of those symptoms.
2. The likely diagnosis is circadian rhythm sleep-wake disorder, delayed
sleep phase type.
3. Testing for hypocretin deficiency can confirm the diagnosis of
narcolepsy.
4. For a diagnosis of narcolepsy using polysomnography, the REM sleep
latency must be ≤15 minutes.
5. Snoring may indicate the presence of obstructive sleep apnea
hypopnea, but only in combination with daytime symptoms (e.g.,
sleepiness, fatigue, unrefreshing sleep) and ≥5 obstructive apneas
and/or hypopneas per hour of sleep.
6. Medical comorbidities that have been linked to obstructive sleep
apnea hypopnea include hypertension, cardiovascular disease,
cerebrovascular disease, diabetes mellitus, obesity, gastroesophageal
reflux, and erectile dysfunction.
7. Central sleep apnea may be seen in an individual with congestive
heart failure. Although a person with congestive heart failure may
suffer from obstructive sleep apnea hypopnea, insomnia disorder, or
any other sleep-wake disorder, it is also important to consider the
possible presence of central sleep apnea.
8. The woman likely has circadian rhythm sleep disorder, advanced
sleep phase type. Individuals with this disorder go to bed and wake up
earlier than they desire. Sometimes, if individuals try to stay up to
watch television or attend social activities, they may go to bed later
but still wake up earlier, and so may become somewhat sleep
deprived, with resultant daytime sleepiness and impaired functioning.
9. Nightmare disorder should be considered; however, PTSD is an
obvious consideration in a veteran who is having nightmares.
10. This man may be describing REM sleep behavior disorder, which
typically consists of vocalizations or dream enactment behavior that
may possibly hurt the individual or the bed partner. Symptoms occur
during REM sleep, when there typically is paralysis of voluntary
muscles. REM sleep behavior disorder is associated with certain
neurodegenerative conditions, such as Parkinson’s disease, multiple
system atrophy, or dementia with Lewy bodies, and neurological
assessment may be indicated as well.
16
Sexual Dysfunctions
Richard Balon, M.D.
Sex is one of the three basic drives, in addition to eating and sleeping.
Many mental and physical disorders and diseases affect the entire human
body and all three basic drives. The impairment of sexual drive could thus
occur within the context of another major mental disorder or physical
illness (e.g., cardiovascular disease) or without any connection to another
disorder or disease. The sexual dysfunctions discussed in this diagnostic
class are those without any connection to other disorders. Sexual
dysfunctions are characterized by a clinically significant inability to
respond sexually and/or experience sexual pleasure (which could also be
due to pain in the case of genito-pelvic pain/penetration disorder). Sexual
dysfunctions frequently coexist with each other, and one may be a
consequence of another. In cases of more than one sexual dysfunction in a
particular person, all diagnoses should be made.
The DSM-5 group of sexual dysfunctions includes the following:
delayed ejaculation (delayed ejaculation or inability to ejaculate); erectile
disorder (inability to attain and maintain erection); female orgasmic
disorder (delayed orgasm or anorgasmia); female sexual interest/arousal
disorder (lack of sexual interest/arousal); genito-pelvic pain/penetration
disorder (inability to have vaginal intercourse/penetration, marked
vulvovaginal or pelvic pain during vaginal intercourse/penetration); male
hypoactive sexual desire disorder (lack of sexual fantasies and desire);
premature (early) ejaculation (ejaculation before the person desires, within
approximately 1 minute after penetration); substance/medication-induced
sexual dysfunction (sexual dysfunction developing after introducing a
substance, increasing the dosage, or discontinuing a substance of abuse or
medication; the substance and the dysfunction should be specified); and
other specified sexual dysfunction or unspecified sexual dysfunction
(presentations in which symptoms characteristic of sexual dysfunction that
cause clinically significant distress in the individual predominate but do not
meet full criteria for any of the disorders in this diagnostic class). For other
specified sexual dysfunction, the clinician can note the specific reason the
presentation does not meet the criteria for any specific sexual dysfunction—
for example, “sexual aversion.” For unspecified sexual dysfunction, the
clinician chooses not to specify the reason that criteria are not met for a
specific sexual dysfunction; this includes presentations for which there is
insufficient information to make a more specific diagnosis.
DSM-5 introduces several significant, general changes from DSM-IV
for making the diagnosis of sexual dysfunctions more specific, refined, and
distinguished from transient sexual difficulties. One change is the
requirement of a specific duration of impairment of at least 6 months and,
for most disorders, specification of frequency (i.e., symptoms experienced
on approximately 75%–100% of occasions). Another change is an
introduction of severity specifiers to rate distress as mild, moderate, or
severe. DSM-5 retains specifiers helpful in delineating the possible
source/etiology of the sexual dysfunction, such as whether the sexual
dysfunction is lifelong (i.e., present since the individual became sexually
active) or acquired, and whether it is generalized (i.e., not limited to certain
types of stimulation, situations, or partners) or situational (i.e., only
occurring with certain types of stimulation, situations, or partners).
A number of factors may be helpful in determining the etiology and
circumstances of sexual dysfunctions, such as partner factors (e.g., a
partner’s health status or sexual problem); relationship factors (e.g., poor
communication, discrepancy in sexual desire); individual vulnerability
factors (e.g., poor body image, psychiatric comorbidity such as depression,
or stressors such as job loss); cultural or religious factors; and medical
factors (e.g., cardiovascular disease). It is also important to incorporate age-
related changes into the diagnosis of sexual dysfunction, because aging may
be associated with a normative decrease of sexual desire and response.
Sexual difficulties may also be related to a lack of sexual stimulation (when
no diagnosis of sexual dysfunction should be made). Clinical judgment
should be used in considering both age-related changes and possible lack of
sexual stimulation.
DSM-5 also introduces two new diagnoses, female sexual
interest/arousal disorder and genito-pelvic pain/penetration disorder. The
first disorder was introduced because the distinction between phases of
sexual response in women may be a bit artificial and not necessarily linear.
The second disorder appears because the diagnoses of dyspareunia and
vaginismus in previous versions of DSM were overlapping and thus
difficult to distinguish in clinical practice. The diagnoses of sexual
dysfunctions are all gender specific in DSM-5.
Finally, DSM-5 has removed sexual aversion disorder (a rare condition)
as a separate diagnosis. It now could be classified as other specified sexual
dysfunction.
Discussing sexual functioning could be difficult for many, if not all,
people in any situation or context, including the clinical setting. The
interviewing clinician should be sensitive to the fact that people may
hesitate to acknowledge that they are having sexual difficulties. For some,
confidentiality is a concern; for others, barriers to disclosure relate to self-
esteem, fears, culture, and religion. The careful interviewer will not be
satisfied with vague answers to general or specific questions.
Confidentiality of the interview should always be emphasized. Questions
should progress from general to specific and should take into account the
sensitivity and intimacy of discussing sexuality. Sexual dysfunctions have a
broader impact than clinicians usually realize—they affect the individual
and his or her partner. Thus, the clinician may consider interviewing (and
educating) the individual’s partner in addition, if the patient agrees. The
interviewing clinician should also remember that sexual functioning is
intertwined and affected by various mental and physical disorders and
illnesses and therefore should ask about these conditions in connection with
sexual functioning.
IN-DEPTH DIAGNOSIS
Female Orgasmic Disorder
Ms. Mitchell, a 27-year-old healthy married woman, complains of inability to reach orgasm. She
states that she has never experienced orgasm. She became sexually active around age 20 and had
three sexual partners before she got married. She describes those sexual partners as “typical
student sexual partners: we dated and had sex occasionally. I was not really invested in the
relationships, and having orgasms with these guys was not that important to me.” She was
interested in having sex and had heterosexual fantasies. She hoped that orgasms “would come in
a real relationship.” She got married 2 years ago to “a great guy. I have been and still am really
sexually attracted to him.” They have been having sex several times a week. She states, “I love
having sex with my husband. He is caring, a great lover, and he has been trying very hard to
satisfy me.” She hoped that she would start to have orgasms, but “it did not happen.” They have
tried various things, such as oral stimulation, masturbation during intercourse, and using a
vibrator. “Nothing helps.” Her husband started to question his abilities and then whether
anything is wrong with her. The absence of orgasm has become a “sore point in their
relationship.” She has been afraid that “he may start to look somewhere else.” She has tried to
masturbate and use a vibrator on her own, “but I cannot come, no matter what.” She denies
substance abuse and does not take any medication.
Ms. Mitchell meets criteria for female orgasmic disorder. She has never
experienced orgasm (i.e., the difficulty has been present for more than 6
months). She has tried various ways of stimulation without any success. She
has had sexual fantasies and becomes aroused when with her husband and
when she was with her previous sexual partners. She does not describe any
other sexual problem; she does not mention any pain during sexual
intercourse. She is healthy, does not take any medication, and does not use
any substances. She is happily married, and her husband is caring, trying to
satisfy her; their relationship has been good. She has been sexually satisfied
and has had sex several times a week, yet has not been able to reach
orgasm. She started to be distressed by her inability to reach orgasm and by
the fact that it has become an issue, a “sore point,” in her relationship with
her husband.
Ms. Mitchell has never been able to reach orgasm; thus, her dysfunction
started early in her life. Her orgasmic disorder should be subclassified as
lifelong and generalized, because she has never experienced an orgasm
under any situation, and probably of moderate severity.
Approach to the Diagnosis
For diagnosis of this disorder, a woman must be distressed over her
inability to reach orgasm, or significant interpersonal difficulties should
result from this sexual difficulty (e.g., her partner may be upset, she may
feel inadequate, her partner may cease having sex with her and look for
satisfaction elsewhere). Not all women are distressed about the inability to
reach orgasm. On the other hand, some women may not report their
inability to reach orgasm, though distressed about it, possibly because of
being otherwise satisfied or not wanting to upset their sexual partner. They
may have difficulties discussing sexual issues. It is thus very important to
ask directly about a woman’s ability to reach orgasm, without relying on
spontaneous reporting. In a woman who is able to reach orgasm, orgasmic
sensation should be consistent, occurring on most (at least 75%) occasions
of sexual activity; therefore, women with female orgasmic disorder may
experience orgasm up to about 25% of the time. An important factor to
consider in making the diagnosis of orgasmic disorder is adequate
stimulation. Not all women experience orgasm during penile-vaginal
intercourse all the time. Many women may require more stimulation, such
as by masturbation or a vibrator. The woman’s and her partner’s orgasms
also do not usually occur at the same time, and the woman may require
more stimulation after her partner reaches orgasm to reach her own orgasm.
Female orgasmic disorder may develop at any age, from the prepubertal
period to late adulthood.
The inability to experience orgasm (or having a significantly delayed
orgasm) should be evaluated in a wide context of numerous issues. The
clinician needs to consider whether the absence of orgasm could be
explained within the frame of another mental disorder (e.g., depression); if
so, a diagnosis of female orgasmic disorder would not be made. However,
the presence of another sexual dysfunction (e.g., female sexual
interest/arousal disorder) does not exclude the diagnosis of female orgasmic
disorder.
DSM-5 provides specifiers that should help to refine the diagnosis of
female orgasmic disorder and make treatment planning more precise. The
diagnosis should specify whether the woman has never experienced an
orgasm under any situation, whether the orgasmic disorder is lifelong or
acquired (i.e., it started after a period of having orgasms, or not having any
orgasmic difficulties such as delay or decreased intensity), and whether the
absence or impairment of orgasm is generalized (i.e., occurring basically in
all situations and with all partners, if there were more than one) or
situational (i.e., occurring with certain stimulation, situations, or partners).
The clinician should also specify whether the associated distress is mild,
moderate, or severe.
Relying on his or her judgment, the clinician should evaluate and
discuss the following topics, even though they are not included among the
DSM-5 specifiers:
Differential Diagnosis
The differential diagnosis of female orgasmic disorder includes nonsexual
mental disorders and symptoms, such as major depressive disorder, severe
anxiety disorder, psychosis, or substance use disorder. However, if a woman
with anorgasmia has a history of depression or another major mental
disorder that does not include inability to reach orgasm in its
symptomatology, then the diagnosis of both the major mental disorder (e.g.,
major depressive disorder) and female orgasmic disorder should be made.
Similarly, if the inability to reach orgasm precedes the development of
symptomatology of major mental disorder (e.g., the woman has a lifelong
history of inability to reach orgasm and recently became depressed), the
clinician should diagnose both female orgasmic disorder and the major
mental disorder. Female orgasmic disorder may co-occur with other sexual
dysfunctions (e.g., female sexual interest/arousal disorder); thus, existence
of another sexual disorder does not rule out female orgasmic disorder. The
differential diagnosis of female orgasmic disorder also includes another
medical condition (e.g., multiple sclerosis, spinal cord injury, fibromyalgia,
endocrine disease) and interpersonal factors (e.g., intimate partner violence,
severe relationship distress). The impact of using illicit substances (e.g.,
opioids) and medications (e.g., antidepressants, antipsychotics) should be
evaluated in the differential diagnosis. The clinician should consider that
even an increase in prescription medication dosage might impede the ability
to reach orgasm.
Women with female orgasmic disorder may develop various associated
symptomatology. A woman may subsequently be less interested in
engaging in sexual activity. Failing to reach orgasm and subsequent
possible interpersonal difficulties surrounding this failure may lead to
anxiety regarding sexual activity and depression about her inability to have
orgasm. Other factors, such as her partner’s demands in spite of her
difficulties in reaching orgasm or her partner reaching orgasm too quickly,
may affect her associated symptomatology. If a woman is distressed about
her inability to reach orgasm, she may become more anxious and then less
interested in sex and less aroused. In a vicious circle, this could lead to
more sexual difficulties and less ability to reach orgasm (if there was any
before) and even associated pain during intercourse.
See DSM-5 for additional disorders to consider in the differential
diagnosis. Also refer to the discussions of comorbidity and differential
diagnosis in their respective sections of DSM-5.
Summary
• The core symptom of female orgasmic disorder is a marked delay in,
decreased frequency of, or inability to reach orgasm or a marked
decrease in orgasmic intensity on at least 75% of occasions of sexual
activity, including masturbation.
• The impairment should last at least 6 months.
• A woman has to demonstrate significant distress or impairment (e.g.,
interpersonal difficulties, feelings of inadequacy).
• The adequacy of sexual stimulation should always be carefully probed.
• Women may feel sexually satisfied yet still have orgasmic difficulties
or be unable to reach orgasm.
• Other mental disorders (e.g., those involving depression, psychosis,
anxiety, substance abuse) and side effects of medications should be
ruled out as possible causes of female orgasmic disorder.
• Female orgasmic disorder may be diagnosed in the presence of other
sexual dysfunctions.
IN-DEPTH DIAGNOSIS
Delayed Ejaculation
Mr. Jones, a 21-year-old physically healthy man, complains of problems being sexually satisfied
during intercourse. He says he takes a very long time to ejaculate: “at least half an hour of hard
work.” At times, he is unable to ejaculate at all because he is exhausted by his efforts to reach
ejaculation. His girlfriend has been complaining that he reaches ejaculation a long time after she
achieves orgasm. She is hesitant to have sex with him because “it is not comfortable or enjoyable
at times; it is just an exhausting exercise.” They tried various things, such as foreplay with “a lot
of oral sex,” mutual masturbation, and watching erotic movies together, but “nothing helps.”
The man states that he wants to have sex often, he thinks about it frequently, but he is
becoming really discouraged about the difficulties. “I hope I will be able to have children.” He
has no problems getting an erection. He says that he has been having difficulties with ejaculating
“for as long as I can remember, even the first time I masturbated, but I believed that it would get
better with some training.”
He denies any depression or other symptoms of mental illness with the exception of getting
anxious about being able to ejaculate. He does not take any medication and denies using any
drugs: “It is not in my repertoire.”
After the man becomes open about his sexual problem, establishing the
descriptive diagnosis of delayed, less frequent, or nonexistent ejaculation
may be relatively simple. The man has to feel that all the information is
confidential and considered seriously, because the inability to ejaculate may
be deleterious to a man’s feeling about his male function and ability to
conceive (especially in younger males with early-onset delayed
ejaculation). It is important to determine that the impairment is continuous
(i.e., almost all occasions), lasting (i.e., 6 months or longer), and not
temporary (e.g., due to interpersonal difficulties). Delayed
ejaculation/inability to ejaculate should also cause distress (e.g., anxiety,
self-doubt) or interpersonal difficulties (e.g., partner’s unhappiness,
arguments) to meet the DSM-5 criteria for delayed ejaculation. The
judgment about the delay in ejaculation is clinical and should be considered
in a wide context, because there is no consensus about what constitutes a
reasonable and generally acceptable time to reach orgasm. The DSM-5
specifiers (lifelong vs. acquired; generalized vs. situational) should be used
as a framework for more specific questioning that may help clarify the
possible cause or contributing factors.
Differential Diagnosis
Differential diagnosis of delayed ejaculation includes numerous factors,
especially in cases of acquired delayed ejaculation. In a young healthy
male, the differential diagnosis includes mainly use of medications (e.g.,
selective serotonin reuptake inhibitors), substances of abuse, and
psychological factors (e.g., inability to ejaculate with one partner while
being able to ejaculate with others; paraphilic interests; and even a
consequence of prolonged infertility treatment with pressure on
“performing”—i.e., ejaculating at certain times and circumstances).
Differential diagnosis could also include the disjunction between
ejaculation and orgasmic experience (anhedonic ejaculation).
Differential diagnosis of late-onset delayed ejaculation is probably
wider and includes various medical illnesses (e.g., impaired innervation of
genitals in disorders such as multiple sclerosis, diabetes mellitus, and
alcoholic neuropathy, or intentional or unintentional injury of innervation
during surgery); use of medications (e.g., antihypertensives, antipsychotics,
selective serotonin reuptake inhibitors, painkillers [opioids]) or drugs of
abuse (opioids); psychological factors (e.g., ability to ejaculate with one
partner but not another of the same sex, paraphilias, other sexual
dysfunctions, or major depression); and anhedonic ejaculation (or other
dysfunction with orgasm, such as painful ejaculation associated with some
medications).
Factors that may affect the clinical presentation of delayed ejaculation
include associated depression or anxiety; other sexual dysfunction that may
either precede or develop as a consequence of delayed ejaculation (e.g.,
lack of desire to have sex anymore, erectile dysfunction); distress due to
inability to conceive or just fear of inability to conceive; history of sexual
abuse; poor body image; cultural and religious influences (religious belief
that man should ejaculate just for the purpose of conception and that
masturbation is a sin); partner demands (more sex, no sex) and complaints
(that it takes too long to get sex, which could perpetuate the difficulty due
to performance anxiety; that the sex is painful or exhausting; or the man’s
own exhaustion during the long attempts to achieve ejaculation while not
being particularly physically fit.
See DSM-5 for additional disorders to consider in the differential
diagnosis. Also refer to the discussions of comorbidity and differential
diagnosis in their respective sections of DSM-5.
Summary
• Delayed ejaculation is the least frequent male sexual dysfunction.
• To establish the diagnosis of delayed ejaculation, the clinician should
inquire about markedly delayed ejaculation or marked decrease in
frequency of ejaculation or inability to ejaculate.
• The dysfunction should be continuous, occurring in almost all or all
attempts to have intercourse or masturbation, and should last at least 6
months.
• The decision about the delay of ejaculation is clinical. There is no clear
consensus about what constitutes delayed ejaculation in terms of time
or frequency.
• The dysfunction should cause distress or impairment (especially in a
man’s relationship with his partner).
• Various factors that could explain or modify the clinical picture of
delayed ejaculation include those related to the man, his partner,
physical illness, medical illness, and medications/substances of abuse.
IN-DEPTH DIAGNOSIS
Female Sexual Interest/Arousal Disorder and
Male Hypoactive Sexual Desire Disorder
Ms. Parker meets the DSM-5 criteria for female sexual interest/arousal
disorder, lifelong and generalized, because she has lacked sexual desire
since her first sexual encounter. She does not have any sexual fantasies and
is not receptive to her boyfriend’s attempts to have sex. She also reports
decreased intensity of sexual sensations during sex. Thus, she clearly
presents with a mixture of lack of sexual desire and some impairment of
arousal. She is able to get aroused occasionally and to reach orgasm. She
loves her boyfriend and is attracted to him, but not sexually. Her sexual
dysfunction is persistent and has lasted more than 6 months. She has been
having arguments because of her “sexual problems” and is worried about
losing her partner, thus meeting the distress criterion (probably at a
moderate level). She is healthy and denies any problems or substance abuse
and does not take any medications.
Mr. Carr has not had interest in sex for most of his life, and he meets the
criteria for male hypoactive sexual desire disorder (lifelong, probably
generalized). He and his wife are having sex very infrequently for their age
group, and his wife would clearly like to have sex more frequently,
although her demands are not excessive. Mr. Carr has had no sexual
fantasies, and his lack of interest in sex does not seem to be related to the
lack of testosterone (application of testosterone gel did not make any
difference in his lack of sexual desire). He is able to get an erection and
ejaculate during sex. His sexual dysfunction is causing some interpersonal
difficulties (mild). He is healthy, and his lack of sexual desire does not seem
to be explainable in terms of other physical or mental illness or use of
substances or medications.
• Does the woman have low sexual desire in the form of absent or
reduced interest in sexual activity? What about sexual fantasies? Does
the woman become interested or aroused while talking about sex with
her partner or watching a sexually explicit movie? Does she attempt to
masturbate?
• Who initiates sexual activity in the couple? How is initiation of sexual
activity accepted by the woman? Any resistance?
• Does the woman experience any pleasure during sexual intercourse?
• Does the woman become aroused during intercourse? Is there adequate
lubrication? Do her genital feelings change during intercourse?
• Is the woman distressed about her lack of sexual interest/arousal? How
much and what is the nature of her distress or impairment?
• Is the woman healthy? Does she have any signs of depression, anxiety,
or substance abuse?
• Does the man report any change in sexual desire/interest? Does he have
any sexual fantasies? Is this situation different than before or has this
lack of sexual desire/interest been a lifelong pattern? Is the lack of
desire persistent?
• How long has sexual desire/interest been absent?
• Is the man upset or distressed about his lack of sexual desire? Has it
caused any problems for him?
• Is the lack of sexual desire specific for a particular person (partner)
and/or situation, or does it occur for any sexual partner or situation?
• Is the man depressed or anxious, or concerned about his body image or
sexual performance?
• Does the man have any physical signs of hypogonadism or low
testosterone level?
Differential Diagnosis
FEMALE SEXUAL INTEREST/AROUSAL DISORDER
The differential diagnosis of female sexual interest/arousal disorder is fairly
broad because the symptomatology of this sexual dysfunction covers the
areas of desire and arousal. As in other sexual dysfunctions, a broad variety
of mental and physical illnesses may affect sexual desire and arousal.
Nonsexual mental disorders need to be considered. For example, major
depressive disorder (one of the symptoms is markedly diminished interest
or pleasure in all, or almost all, activities) and persistent depressive disorder
(dysthymia; symptoms include low energy, fatigue, low self-esteem) may
account for the lack of interest/arousal or its decrease. Some anxiety
disorders (e.g., posttraumatic stress disorder) and obsessive-compulsive
disorder should also be ruled out as a possible cause of low interest/arousal.
Major psychotic disorders and some personality disorders may also be
associated with lack of or reduction in sexual interest/arousal. Similarly,
substance use (e.g., opioids), not only during the episode of acute
intoxication, and some medications (e.g., antihypertensives, antipsychotics,
antidepressants, chemotherapeutics, hormones) may account for the lack of
sexual interest/arousal.
Medical illnesses/conditions associated with the lack of or diminished
sexual interest/arousal include, for instance, diabetes mellitus, thyroid
disease, multiple sclerosis and other neurological diseases, and
cardiovascular diseases (e.g., endothelial disease).
Clinicians should also consider other sexual dysfunctions (e.g., chronic
genital pain) as an explanation of female sexual interest/arousal disorder
symptomatology. Other sexual dysfunctions (e.g., female orgasmic
disorder) may also coexist with this disorder.
Sexual arousal and, in some women, sexual desire may develop in
response to the partner’s initiation and stimulation. The discussion of
presence and adequacy of sexual stimulation should be part of the patient
interview. If inadequate or absent sexual stimulation is part of the clinical
picture, diagnosis of a sexual dysfunction should not be made.
Finally, interpersonal factors such as interpersonal distress, intimate
partner violence, partner poor health, and stresses (e.g., job loss) may also
play a role in the lack of or diminished sexual interest arousal. Some of
these factors may be transient and could be a secondary adaptive alteration
in sexual functioning.
The differential diagnosis of female sexual interest/arousal disorder may
be complicated by development of associated factors or complications, such
as another sexual dysfunction (e.g., female orgasmic disorder)—in which
case it is important to establish which dysfunction is the primary one—and
various psychological reactions to the lack of or diminished sexual interest
or arousal, such as anxiety, depression, and interpersonal difficulties (e.g.,
the lack of receptive response may lead to arguments, which may further
reduce the lack of interest).
See DSM-5 for additional disorders to consider in the differential
diagnosis. Also refer to the discussions of comorbidity and differential
diagnosis in their respective sections of DSM-5.
Summary
FEMALE SEXUAL INTEREST/AROUSAL DISORDER
• The lack of sexual or erotic thoughts and fantasies and lack of desire to
have sex (including masturbation) is the hallmark of this disorder. This
lack of interest is based on clinical judgment.
• The absence or diminishment of sexual desire/interest must have
persisted for at least 6 months.
• The absent or deficient sexual desire/interest should cause clinically
significant distress.
• The differential diagnosis of this disorder includes various mental
disorders (e.g., depression), physical conditions (e.g., endocrine disease
such as hypogonadism or thyroid disease), substance/medication use,
and individual and interpersonal factors.
• Male hypoactive sexual desire disorder may be associated with other
sexual dysfunctions (e.g., erectile disorder, delayed ejaculation). These
dysfunctions may either precede it (in which case the diagnosis of male
hypoactive sexual desire disorder should not be made) or develop as its
consequence.
• The framework of subtypes and specifiers (i.e., acquired vs. lifelong,
situational vs. generalized) will be useful in considering the differential
diagnosis of this disorder.
SUMMARY
Sexual Dysfunctions
Sexual dysfunctions are fairly prevalent impairments of sexual functioning.
Prevalence of sexual dysfunctions may vary among different cultures and
world regions—the highest prevalence of various sexual dysfunctions was
found in East and Southeast Asia.
In an effort to make diagnoses of sexual dysfunctions more precise and
to decrease the likelihood of overdiagnosis, DSM-5 criteria require a
minimum duration of dysfunction of at least 6 months and include more
precise severity specifiers (i.e., distress being mild, moderate, or severe)
and more detailed subtypes (i.e., lifelong vs. acquired) and specifiers (i.e.,
situational vs. generalized). Clinicians may also consider interpersonal,
partner, relationship, cultural, religious, and individual vulnerability factors
in considering the diagnoses and the differential diagnoses of these
disorders. These specifications make it easier to distinguish the true sexual
dysfunctions from transient impairment of sexual functioning that possibly
relates to various interpersonal problems and stresses. For the diagnosis of a
sexual dysfunction, impairment of sexual functioning must also cause
distress in interpersonal relationships and possibly in other functioning. All
the diagnostic criteria rely on the clinician’s judgment. The diagnosis of
sexual dysfunctions is no longer anchored solely in the so-called sexual
response cycle and now is gender specific. Sexual dysfunctions should
always be evaluated and diagnosed in the wide context of other mental
disorders, substance abuse, physical illnesses, medications taken by
individuals with sexual dysfunctions, individual vulnerability, partner
issues, stress, religious and cultural issues, and interpersonal factors.
Inadequate stimulation and discrepancy in sexual demands between
partners should always be considered in clarifying the diagnosis.
DSM-5 introduces two new diagnoses—female sexual interest/arousal
disorder and genito-pelvic pain/penetration disorder—and no longer
includes the diagnosis of sexual aversion disorder as an individual
diagnosis.
312
Diagnostic Pearls
• Sexual dysfunctions need to be distinguished from transient
impairment of sexual functioning; thus, the duration of impairment
should be at least 6 months.
• Sexual difficulties, especially in women, could result from
inadequate sexual stimulation. In such cases, sexual dysfunction
should not be diagnosed.
• Sexual functioning may decline with aging; therefore, age-related
changes should be considered when diagnosing sexual
dysfunction.
• Sexual dysfunctions are gender specific.
• Impairment of sexual functioning could be associated with various
mental disorders (e.g., depression) and physical illnesses (e.g.,
diabetes mellitus, neurological diseases).
• Impairment of sexual functioning could result from various
substances of abuse (e.g., alcohol, nicotine, opioids) and numerous
psychotropic (e.g., antidepressants, antipsychotics) and
nonpsychotropic (e.g., antacids, antihypertensives, beta-blockers)
medications.
• Cultural, interpersonal, and religious factors may play important
roles in impairment of sexual functioning and should be
considered when making the diagnosis.
• Several sexual dysfunctions may occur or overlap in one person.
• The etiology of sexual dysfunctions is usually unknown;
impairment of sexual functioning is frequently a result of a
complex interplay of biological, psychological, and sociocultural
factors.
Self-Assessment
Key Concepts: Double-Check Your Knowledge
What is the relevance of the following concepts to the various sexual
dysfunctions?
Case-Based Questions
PART A
Ms. Gonzalez, a 35-year-old woman, states that she does not enjoy sex anymore. “Actually, I
haven’t had sex in a long time, and we used to have sex almost daily when we got married 3
years ago. I used to think about sex on my way home from work, but that is gone. I don’t think
about it. My husband has been trying to get me into the mood, but I usually turn around and go
to sleep. Part of the problem is that I don’t feel anything anymore down there. I used to have
very pleasurable feelings when penetrated. We tried a vibrator to get back to those feelings, but it
did not help.” She admits worrying about her recent lack of orgasm, because “that is necessary to
get pregnant and we planned to have a kid or two.” She states that she and her husband have
been stressed by the fact that they may lose their house. “He lost his job. He got a new one, but it
does not pay enough to cover the mortgage payments or the rest of our bills. We have argued
about this a lot.” She denies any physical illness or problems. She does not take any medication.
She drinks wine occasionally, one or two glasses with dinner. She has smoked cigarettes, a pack
per day, since her early 20s. She denies using any illicit substances.
What diagnosis would you consider at this point? Could substance use
have an impact on her sexual functioning? Ms. Gonzalez meets the
diagnostic criteria for female sexual interest/arousal disorder: she has lost
her interest in sex, does not respond to her husband’s sexual advances, and
has lost genital feelings during intercourse. The exact duration of her
dysfunction is not known, but it has been persistent. She has probably also
developed female orgasmic disorder lately, possibly as a consequence of her
lack of sexual interest/arousal. She is fairly healthy and does not use any
illicit substances or medications. Her occasional glass or two of wine would
not explain her sexual problems, and by a long while, her smoking preceded
the development of her sexual dysfunctions.
PART B
Ms. Gonzalez admits that she became depressed within the last month or so, “as it is really
upsetting to me that I do not enjoy sex and am not intimate with my husband. I used to enjoy sex
so much.” She also admits feeling some pain upon her husband’s attempts to have sex with her.
Is there any diagnosis of sexual dysfunction to add to the diagnostic
consideration on the basis of the presence of pain during intercourse?
In addition to her already complex sexual problems, Ms. Gonzalez may be
developing sexual pain (genito-pelvic pain/penetration disorder) and has
become depressed. Her case demonstrates that several sexual dysfunctions
may co-occur or develop as a consequence of another. It also demonstrates
the possible role of psychological factors in the development of sexual
dysfunctions and the development of psychiatric symptomatology (e.g.,
depression) as a possible consequence of impaired sexual functioning.
Short-Answer Questions
1. How long must any symptomatology of impaired sexual function last to
meet the diagnostic criteria for sexual dysfunction?
2. Should diagnosis of sexual dysfunction be made if there is inadequate
stimulation during intercourse?
3. What happens to sexual functioning with aging?
4. What are some risk factors for female orgasmic disorder?
5. How soon after vaginal penetration must ejaculation occur to meet the
diagnostic criterion of premature (early) ejaculation?
6. Which major psychiatric disorder is probably most frequently
associated with diminished or absent sexual interest/desire?
7. Which class of psychotropic medications is most frequently implicated
in delayed ejaculation?
8. What are the differences between the previous classification of sexual
dysfunctions and the DSM-5 classification regarding gender specificity
and the role of the sexual response cycle?
9. True or False: Distress is a necessary criterion for making the diagnosis
of sexual dysfunction.
10. What are the new diagnoses of sexual dysfunctions included in DSM-5?
Answers
1. Any symptomatology of impaired sexual function must last 6 months
to meet the diagnostic criteria for sexual dysfunction.
2. Sexual dysfunction should not be diagnosed if there is inadequate
stimulation during intercourse.
3. With aging, sexual function usually declines, and frequency of sexual
impairment increases.
4. Poor physical health, anxiety, depression, and relationship factors are
risk factors for female orgasmic disorder.
5. Ejaculation must occur within approximately 1 minute after vaginal
penetration to meet the diagnostic criterion of premature (early)
ejaculation.
6. Major depressive disorder is probably the most frequent major
psychiatric disorder associated with diminished or absent sexual
interest/desire.
7. Serotonergic antidepressants are most frequently implicated in
delayed ejaculation.
8. The DSM-5 classification is gender specific, and the diagnoses no
longer relate to the so-called sexual response cycle.
9. True. Distress is a necessary criterion for diagnosing sexual
dysfunction.
10. Female sexual interest/arousal disorder and genito-pelvic
pain/penetration disorder are new in DSM-5.
17
Gender Dysphoria
Carlos C. Greaves, M.D.
Daryn Reicherter, M.D.
IN-DEPTH DIAGNOSIS
Gender Dysphoria in Children
Jill is a 16-year-old girl. Her parents brought her to consultation because they despaired for
several years at her insistence that she was a boy. She wanted to dress in boy’s attire and begin
masculinizing hormone treatments. What they thought would be a passing whim over the years,
they now realized was a deeply set conviction. The history reveals that at approximately age 3,
Jill began showing a greater interest in playing with the toys that her brother, older by 7 years,
had used: cars, trucks, soldiers, swords, and so on. She was uninterested in the girl-typical toys,
such as dolls, house items, and cute stuffed animals, which her parents kept buying for her. At
age 4 she declared that she was a boy; any attempt of telling her otherwise was met by crying
protests. In kindergarten, at age 5, Jill much preferred the company of boys, with whom she
would engage in competitive body-contact games. At girls’ social gatherings, she kept apart,
choosing aloneness rather than joining in games and other activities. She would ask, “Where are
the other boys? Why am I the only one here?” For school she insisted on wearing boyish clothes,
resisting more typically feminine ones. At around age 7, her favorite movies and TV shows
involved some young male hero or boy-centered story with which she would identify. At home,
watching medieval chivalry movies, which she loved, she would sit with a play sword across her
legs, wielding it enthusiastically as her hero went into battle.
Jill was, during late childhood, active physically, enjoying soccer and competing in running
and other sports. She would feel deeply hurt when a group of boys rejected her as a member of
their team on account of her being a girl; in these instances she would loudly protest “but I am
not, I am not a girl!” By this point she had learned not to overtly declare being a boy, given the
experiences of teasing and ridicule that her assertion elicited.
As Jill entered puberty, she found herself isolating more and more. She did not fit anywhere:
girls found her “strange,” thus the avoidance was mutual, whereas boys tended to ignore her or
tease her for being “weird.” Jill felt that it was a “tragedy” not to have a penis; she hated the
emergence of her breasts, which she would flatten with cloth straps. Jill was sexually and
emotionally attracted to girls and thought of herself as heterosexual. When her menarche
occurred at age 14, she “cried for days,” experiencing then, for the first time, a 3-month-long
depressive episode.
Jill has shown from early life an awareness, a conviction, that she does
not belong to the gender she was assigned at birth. She has consistently
preferred to play with boy’s toys, rejecting girl-typical ones, and enjoys
wearing boyish clothing. Her walking and gestures are strongly male-
typical; she chooses to socialize with other boys and joins them in their
games when accepted by them. She feels very comfortable in cross-gender
roles, rejecting gender-typical ones; she engages in make-believe and
fantasy games in which she is a boy hero or a dashing medieval knight. She
hates not having a penis and would like to get rid of her breasts.
Differential Diagnosis
DSM-5 describes a typical list of behavioral and diagnostic concepts that
should be considered in the differential diagnosis of gender dysphoria. The
young person who is nonconforming to stereotypical gender role behavior
may reject gender-typical activities and play, but there is no doubt that his
or her gender matches the one assigned at birth. This nonconformity will
tend to be transitory, shifting as the individual matures or is influenced by
peers. Disorders of sex development may or may not be associated with
gender dysphoria and need to be ruled out. In individuals with transvestic
disorder, cross-dressing elicits sexual arousal and excitement and is most
frequent in adolescent and adult heterosexual or bisexual men. In rare cases,
cross-dressing in children can produce arousal, associated or not with
gender dysphoria or transgenderism. Both diagnoses can be made if
coexistent.
An individual with body dysmorphic disorder focuses on the alteration
or removal of a specific body part because it is perceived as abnormally
formed, not because of any gender-related issue.
Other symptomatology, such as hallucinations, paranoid delusions, and
course of illness, would differentiate between an adolescent with
schizophrenia or other psychosis, which includes the unusual delusion of
belonging to another gender, and a child with gender dysphoria. In the
absence of psychotic symptoms, insistence by a child with gender dysphoria
that he or she is of another gender is not considered delusional.
Other clinical presentations include, for example, some males who seek
castration and/or penectomy for aesthetic reasons or to remove the
psychological effects of androgens, without changing male identity; these
presentations do not meet criteria for gender dysphoria.
The clinicians should also rule out disorders of sex development such as
congenital adrenogenital disorder, congenital adrenal hyperplasia, androgen
insensitivity syndrome, or defective chromosomal conditions.
See DSM-5 for additional disorders to consider in the differential
diagnosis. Also refer to the discussions of comorbidity and differential
diagnosis in their respective sections of DSM-5.
Summary
• Gender dysphoria is considered as a diagnosis if for at least 6 months a
child has had serious doubts about his or her gender or is convinced and
insists that he or she belongs to another gender, resulting in tension,
suffering, confusion, and general distress.
• Such an individual prefers to play, dress, fantasize, seek
companionship, and assume roles that are gender atypical. In so
pursuing, he or she gets into conflict with family and friends and in
school.
• The individual dislikes his or her own anatomy, particularly genitals;
dreads the emergence of his or her secondary sexual characteristics; and
yearns for a different body configuration—one that matches the desired
gender.
• Over time, the condition has disrupted the development of the
individual within the family dynamics, interpersonally, and in the
general social world.
• The hallmark theme of gender dysphoria in children is a “marked
incongruence between one’s experienced/expressed gender and
assigned gender” that causes distress or dysfunction.
• Six of the eight criteria must be met to make the diagnosis.
• Many of the diagnostic criteria involve strong preferences to behave as
a member of the gender that is opposite to the assigned gender.
• There are significant differences (aside from age) in the typical
presentations between gender dysphoria in children and gender
dysphoria in adolescents and adults.
• The differential diagnosis must be considered before ruling in gender
dysphoria in children.
IN-DEPTH DIAGNOSIS
Gender Dysphoria in Adolescents and Adults
Ken is a 38-year-old male-to-female transsexual person who had gone through sex reassignment
surgery a few months before consultation. Ken was the only child of a rural Midwestern white
family. He was assigned the male gender at birth. Until mid-adolescence, other than a distinct,
yet vague feeling that he (at the time) was “different,” his childhood developed along the lines
expected for boys. Ken was not enthusiastic about sports, preferring intellectual activities and
discussions. When he was about age 15, an increasing sense of alienation from his maleness
developed regarding his body hair, genitals, deeper voice, facial features, and so on, with a
concomitant desire for female attributes.
He denied all this to himself: “I put it aside; it was too much and too complex to deal with. In
my neck of the woods, I would have been kicked out of home, thrashed by others, maybe killed.”
Ken was attracted to women, emotionally and sexually. After a couple of short-lived affairs with
girlfriends, he fell in love with a college friend, marrying her just after graduation, although he
was very much aware of his gender ambiguity. Ken and his wife had three children, a boy and
two girls. He completed a master’s degree in business and got a good job. When alone at home,
he would wear his wife’s clothing and cosmetics. He imagined himself as a woman, feeling a
“huge relief” from the permanent tension he had experienced at the growing realization that he
was “authentically, a woman.” Ken felt that in denying his early sense of being a female, he had
deeply betrayed himself, his “true nature.”
Though professionally successful and happy about his children, Ken was otherwise quite
dysphoric: constant tension, depressive feelings, serious anxiety, increasing difficulty with
sexual performance, and despairing as to what to do. Soon after the birth of their third child, Ken
announced to his wife, who by now knew about his dysphoria and its origin, his intention to
transition to the female gender. “I just could not handle it any longer; when suicidal thoughts
entered my mind, I knew it was time to act.” He began hormone treatments, at which point his
wife initiated a divorce (to his chagrin); he then underwent surgeries to shave off a prominent
Adam’s apple, supraorbital bones, and his chin. At this point, “he” became a “she” in the social
world, facing all the complexities of transitioning, and changed his name to a female one, Kelly
—the one to which she had referred to herself secretly for years.
Kelly eventually underwent sex reassignment surgery. Her dysphoria significantly lessened.
She learned to modulate her voice to a higher pitch, passing as a biological woman quite well.
Yet in her attempt at exploring intimacy with women or men, the conflict of whether to “come
out” or not became critical: a toss-up between honesty and the likelihood of rejection (or worse).
Her aging parents were unable to accept her change. Close relationships became limited to
those in the transgender community who could fully understand and relate to her experience,
with the exception of a couple of faithful childhood friends. She found excellent employment,
where she was respected as an unusually courageous person by the few who knew of her difficult
journey.
This case clearly fits the themes in the diagnosis of gender dysphoria in
adolescents and adults. The key features are clear. The individual meets at
least two of the six criteria and has for 6 months or more. Social
dysfunction and distress have been present for this person for many years.
This case not only meets criteria for the diagnosis but also meets the
stated criteria for the specifier “posttransition.” Even though the individual
has not undergone the medical procedure or the legal change in name, he
has changed gender role from male to female and has lived in a
“posttransitional” state for years, per the history.
With adults, a cohesive, processed, and integrated picture will most
likely be offered without much questioning. Once the transgender profile
has been exposed and the concomitant dysphoria elucidated, the examiner
ought to address the differential diagnosis and to refine an understanding of
the peculiarities and uniqueness of this person’s experience/situation.
Getting the history from an adolescent may require more finesse. The
following are examples of helpful comments: “I am here to understand and
help you, not to judge you”; “Whatever it is that you are or want to be is
fine, as long as you don’t hurt yourself or others”; “I realize you have been
suffering a great deal; let us work together to understand what is happening
to you and to alleviate your suffering.” Questions about the actual
phenomena the youth is experiencing internally and externally are
important: “What is it that you feel you are? For how long has this been so?
What are the things you’d like to do if you were free to do as you wish?
How would you like to dress? What kind of person would you like others to
see you as, and how do you want to come across to others? Tell me, how do
you feel about your body? What is it that you feel is not right with it? And
how do you feel about your genitals?”
Once answers to these and similar questions have been ascertained, a
more in-depth set of questions involving the youth’s hoped-for world can
provide valuable diagnostic information: “How do you imagine yourself to
be? What sort of images of yourself seem right and fitting for you? How are
you pictured in your dreams? How would you like to be, say, 5 or 10 years
from now? What sort of love partner would you like to have and of which
gender? Describe for me, please, the type of body you would like to have.
Do you imagine having different genitalia? How often? How do you
imagine your life would be if you were to change your gender? What do
you imagine the reaction would be to that change from your family, your
friends, and society at large? How does all of this make you feel: good, bad,
happy, sad, scared, frustrated, angry, anxious? Have you entertained suicidal
thoughts? What is going on now between you and your friends? How does
your situation fit with your values, religious teachings, principles, and ideal
vision of yourself? Did you have any inkling of all this in your childhood?
By what name would you like me to call you? Is there anything I have not
asked you about that is important to you?”
Differential Diagnosis
For adolescents and adults, several possibilities on the differential diagnosis
should be considered and ruled out before diagnosing gender dysphoria.
Nonconformity to gender roles is the situation wherein an individual feels
disturbed, angry, contemptuous, and disaffected and/or is critical of the
roles culture and society impose on either gender. In this instance, the
individual has no desire to be a different gender from the natal gender and
feels no alienation from his or her anatomy or current external gender traits.
Sexual arousal and performance obtained through the act of cross-
dressing, in mostly a heterosexual male who is perfectly content with his
gender and anatomy, is known as transvestic disorder and should be
distinguished from gender dysphoria.
Body dysmorphic disorder is characterized by an individual’s focus on
the alteration or removal of a specific body part because it is perceived as
abnormally formed, not because it represents a repudiated assigned gender.
Schizophrenia and other psychotic disorders, as well as obsessive-
compulsive disorder, are considered part of the differential diagnosis. Some
personality disorders can manifest with gender themes but should be
distinguishable from gender dysphoria.
For a homosexually oriented adolescent who is deeply homophobic, the
idea of changing genders, in spite of all its complexities, might seem
preferable to the rejection and shame of being gay or lesbian. Changing
genders would provide sanction from family, religion, and society for the
now “acceptable” heterosexual orientation. Such a preference for changing
genders, however, does not reflect a pervasive sense or conviction that he or
she belongs to a gender that is different from the one assigned at birth.
Some adults, usually homosexual or bisexual, enjoy cross-dressing and
assuming the roles of another gender for the purposes of entertainment,
leisure, or plain fun (e.g., “drag queens and kings”) without any desire to
change the birth gender.
See DSM-5 for additional disorders to consider in the differential
diagnosis. Also refer to the discussions of comorbidity and differential
diagnosis in their respective sections of DSM-5.
Summary
• The hallmark theme of gender dysphoria in adolescents and adults is a
“marked incongruence between one’s experienced/expressed gender
and assigned gender” that causes distress or dysfunction.
• The adolescent or adult consistently experiences the certainty of
belonging to a gender other than the one given at birth.
• This desire is accompanied by dislike of or aversion to the individual’s
own body in that it is felt as alien and wrong, with a desire to have the
body and attributes of another gender, including or not including altered
genital anatomy.
• There is an attraction for and desire to experience life as a member of
another gender, to be seen and acknowledged as such, and to be treated
accordingly.
• The gender dysphoria results in great pressure, tension, mood changes,
anxiety, discomfort, and alterations in the interpersonal sphere of the
person.
• A great deal of time and energy is spent in fantasizing how life would
be if lived as the desired gender, thus bringing a sense of completion
and fulfillment to the person.
SUMMARY
Gender Dysphoria
The diagnosis of gender dysphoria is applicable when an individual has a
pervasive sense or conviction that he or she is a member of a gender that is
different from the one assigned at birth. As a result, the person must have
been experiencing, for at least 6 months, a few or several of the following
symptoms: distress, anxiety, tension, affective disturbances, alteration in
family dynamics, personal doubts and confusion, alienation from others,
and disruptions in school, work, or social settings in general.
These individuals have a subjective certainty that something went amiss
in their biological development, resulting in their being born in a body that
does not fit the gender to which they know they belong. This predicament
creates, in an individual,
an intense desire to “fix what is wrong”—thus, in children, to play, dress,
and be with those of their desired gender; in adolescents, to get rid of any
observable traits that would identify them, to themselves and others, as
belonging to the birth gender—particularly their “mismatched” genitals—
and to live, work, socialize, be intimate, and find fulfillment in life as a
member of the desired gender later in adulthood.
At some point in its development, the transgender consciousness, which
is not considered to be delusional, will meet obstacles. In childhood, this is
demonstrated in resistance to the joys of naturally chosen play,
companionship, and dress. Later, in adolescence and adulthood, obstacles
include the necessary redefinitions of self-concept, bodily configuration,
and family and peer structures; having to master failed social expectations;
building compensations for the shame of disapproval, hostility, and
rejection; creating an effective masking to achieve survival; and coping
with financial hardships—all this as the necessary cost of achieving a sense
of wholeness. In consequence, the transgender consciousness relates
throughout to the unavoidable symptomatology of gender dysphoria.
It is also a condition that imposes great challenges for parents, family,
friends, and acquaintances as they attempt to position themselves vis-à-vis
the transgendered person. They will also suffer from a form of derivative
“gender dysphoria,” the symptomatic response to witnessing this
paradoxical condition in their loved one, either because of empathy,
sympathy, compassion, opposition, fear, rejection, confusion, violence,
ignorance, or the anticipated financial challenges ahead.
Diagnostic Pearls
• Gender dysphoria is an experienced disconnect between an
individual’s physical sex and experienced gender role.
• Gender dysphoria is not a sexual dysfunction or paraphilic
disorder.
• Hallmark features of gender dysphoria center around the distress
caused by the incongruence between the person’s
experienced/expressed gender and assigned gender.
• Because features may manifest differently in various stages of
development, DSM-5 has two distinct diagnostic criteria sets:
gender dysphoria in children and gender dysphoria in adolescents
and adults.
• Gender dysphoria must be present for more than 6 months, but in
most cases this time criterion will be easily met, because the
experience tends to be chronic.
• Gender dysphoria diagnoses have qualifiers that inform whether a
physical or medical issue is related to the diagnosis. DSM-5 asks
clinicians to clarify whether the gender dysphoria is associated
with “a disorder of sex development (e.g., a congenital
adrenogenital disorder such as congenital adrenal hyperplasia or
androgen insensitivity syndrome).” This specifier may be
important in the formulation of an individual overall.
Self-Assessment
Key Concepts: Double-Check Your Knowledge
What is the relevance of the following concepts to gender dysphoria?
Case-Based Questions
PART A
Maria was assigned the female gender at birth; she was the third child of a West Coast, upper-
middle-class family. Her father, an engineer, came from a liberal tradition of several generations
of Midwestern settlers; her mother’s family, originally from Mexico, had been in the United
States for four generations. Neither family was religiously inclined. At the time of her birth,
Maria’s two older sisters were ages 5 and 7, her father was 45, and her mother was 39.
Postpartum complications and age made her mother unable to bear any more children.
Since her earliest recollections Maria thought of herself as different from other children and
her sisters. She was active, curious, and willful, whereas her sisters were “placid and obedient.”
In kindergarten she preferred to play “boy games” with the boys, rejecting the company and play
toys of the girls. At home she was given the toys she preferred: cars, trains, balls of different
sorts, toy soldiers, and cowboy hats and boots; she thought that dolls were “silly.” Wishing to
differentiate herself from her sisters, Maria favored masculine attire, which her parents indulged
because they found all of this “cute and different.”
Only on the basis of the information given so far, can the diagnosis of
gender dysphoria be made? No. Although some information is consistent
with a theme of gender dysphoria, full criteria have not been met in the
information given.
PART B
In later childhood, Maria engaged in rough play with boys in her neighborhood and at school,
and she began to assert with increasing vehemence that she was a boy. These assertions were met
with dismissive smiles from her parents and close family members, but at school she was
ridiculed. During puberty and early adolescence, at her insistence, Maria was allowed to cross-
dress at home and began to use a boy’s name (which became her “nickname” among intimates),
and she began to wear boyish clothing to school. She dreaded and eventually hated her breasts,
covering them as best she could; her menarche was a great disappointment.
From that time on, she expressed the desire to change into the male gender. She was eager
for the secondary sex characteristics of maleness and found out about hormone treatments
through the Internet, where she became aware of transgenderism and began to correspond with
other youths experiencing similar predicaments. Her parents did not oppose this wish but asked
her to wait “so that you are sure this is really what you want.” She was consistently attracted to
other girls, sexually and romantically, since early adolescence, and “never to boys.”
At age 16, she insisted everyone call her by her chosen male name, Marcus, and, with
parental sanction, began androgenic hormone treatments. At age 17, she underwent surgical
breast reduction (actual elimination of all breast tissue) and developed facial and body hair; her
voice deepened considerably.
By the time Marcus went to college, he had transitioned completely into the male gender.
There he played sports just like any other young man on the teams; he avoided locker rooms but
used men’s bathrooms, adducing “pee shyness” to justify the avoidance of urinals. His main
problem was in dating women, to whom at some point he had to disclose his preoperative
transgender status; in all but one instance (with a declared bisexual peer woman), he was
rejected as an unsuitable sexual partner. Academic difficulties plus this ongoing conflict led
Marcus to drop out of college; his parents helped him financially through a few years of various
jobs. Since age 17, he had worked out and exercised regularly, so that now, at age 24, though
short in stature, he was quite muscularly developed. He applied to and was accepted into the fire
department of a major West Coast city. By the time of consultation, at age 32, Marcus had been a
firefighter for 8 years; at work, no one knew he was a biological female.
After Marcus became comfortable with his life as a man, did he meet
criteria for gender dysphoria? No. Marcus is living happily (without
distress or dysfunction) as a transgendered individual.
Short-Answer Questions
1. What is gender dysphoria?
2. What are the separate criteria sets of gender dysphoria?
3. What are the key features of gender dysphoria in children?
4. What are the key features of gender dysphoria in adolescents and
adults?
5. What is meant by “hormone treatments” in this context?
6. What is the minimum necessary duration of symptoms for the diagnosis
of gender dysphoria?
7. What are important attitudes in the examiner?
8. If a male-gendered child identifies as female but does not experience
any dysfunction or distress, should gender dysphoria be diagnosed?
9. What is the prevalence of gender dysphoria?
10. What is the differential diagnosis for gender dysphoria in adolescents
and adults?
Answers
1. Gender dysphoria refers to a complex set of symptoms that result
when an individual experiences his or her gender identity to be at
odds with the gender assigned at birth.
2. The separate criteria sets of gender dysphoria are gender dysphoria in
children and gender dysphoria in adolescents and adults.
3. Key features of gender dysphoria in children are a consistent pattern
of preferring the play toys, attire, company, games, make-believe
fantasies, and activities that are typical of a gender other than the one
given at birth. The sense of belonging to the other gender, the feeling
of being in the wrong body, the dreading of the external bodily
attributes of the assigned gender, and the wish for the primary and/or
secondary sex characteristics of the desired gender bring about gender
dysphoria symptoms.
4. Key features of gender dysphoria in adolescents and adults include a
pervasive conviction that they are a member of another gender from
the one assigned at birth; a strong desire to get rid of the primary
and/or secondary sex characteristics of the birth gender; a strong
desire to possess the primary and/or secondary sex characteristics of
the desired gender; a subjective sense that their thoughts and feelings
are similar to those of the desired gender; and a wish to be seen and
treated as typically expected for a member of the desired gender.
5. Hormone treatments involve the administration of either estrogenic or
androgenic hormones to achieve a feminization or masculinization of
the individual.
6. Six months is the minimum necessary duration of symptoms for the
diagnosis of gender dysphoria.
7. The examiner adapts to the age of the patient and exudes attitudes of
warmth, understanding, acceptance, empathy, lack of judgment,
openness, support, and encouragement.
8. No. Gender dysphoria should not be diagnosed in a male-gendered
child who identifies as female but does not experience any
dysfunction or distress.
9. The prevalence of gender dysphoria is less than 1%.
10. The differential diagnosis for gender dysphoria in adolescents and
adults includes nonconformity to gender roles, transvestic disorder,
body dysmorphic disorder, schizophrenia and other psychotic
disorders, and other clinical presentations.
18
“It seems he always has to do exactly the opposite of what I tell him.”
IN-DEPTH DIAGNOSIS
Oppositional Defiant Disorder
The mother of Adam, a 7-year-old boy, brings him to a suburban outpatient clinic for evaluation
and possible treatment because of disruptive behavior at school. His mother, a single mother of
four children (ages 2–15), works full time outside the home and reports that she is seeking help
because she feels as though Adam’s behavior has become unmanageable at home and is
beginning to manifest at school. His mother reports excessive arguments at home between Adam
and his siblings, both younger and older; Adam often talks back and does not follow rules at
home or school. His mother recalls that he has been the most challenging to manage of her
children, starting when he was between ages 3 and 4. She felt the immediate need to seek
assistance when the school notified her because security guards had been called for the second
time in 3 weeks in response to Adam’s behavior. The most recent incident involved Adam
climbing onto the roof of one of the school buildings and taunting the teachers and security
guard as they tried to get him to come down safely. He reports that he climbed up there because
he thought hiding from his teacher was fun and because she deserved it, and he did not care if he
got in trouble.
Tina’s parents are bringing her in for care at a younger age than would
typically be expected. Tina is apparently experiencing complex symptoms
that relate to two diagnoses, oppositional defiant disorder and ADHD. At
times, children who have difficulty following instructions or seem as
though they are not listening may appear to be defiant. In Tina’s case, she
has displayed symptoms across diverse settings—that is, at home, school,
and after-school care. Tina has been defiant despite identifying that she has
heard and understands instructions, and she frequently blames her behavior
on others. In addition, she has had difficulties with friendships, not only
blaming her friends for her argumentative behavior, but also forcing them to
play in certain ways, cheating on games, and planning schemes with ill
outcomes toward her friends and sister. Tina’s history is also suggestive of
ADHD, given that she is described as fidgety, having difficulty sitting still,
impulsive, and appearing to not listen at times. Questions that might
confirm a comorbid diagnosis of ADHD include whether Tina frequently
loses things, forgets instructions and activities, and/or has difficulty waiting
for her turn.
Differential Diagnosis
The differential diagnosis for oppositional defiant disorder includes
conditions such as conduct disorder, ADHD, depressive and bipolar
disorders, disruptive mood dysregulation disorder, intermittent explosive
disorder, intellectual disability (intellectual developmental disorder),
language disorder, or social anxiety disorder (social phobia). Oppositional
defiant disorder and ADHD often co-occur. Clinicians should rely on the
characterization of symptoms, including the timing and setting, to establish
whether criteria have been met. It is important to define the age at onset of
symptoms, contextual presence of the symptoms, and the temporal
relationship, including examination of a continual nature versus intermittent
symptoms. Disruptive behavior noted with ADHD is a result of the
inattention and impulsivity of the disorder, and thus should not be
considered a diagnosis of co-occurring oppositional defiant disorder unless
it is clear that the criteria for both diagnoses have been met. Furthermore, if
an individual resists completing tasks, it should be made clear that the tasks
do not demand sustained attention and effort, which would be more
indicative of an ADHD diagnosis.
Oppositional defiant disorder is best differentiated from conduct
disorder by the impulsivity of mood and irritability that is characteristic of
oppositional defiant disorder. Conduct disorder is more severe in that it also
includes the criteria of aggression toward people or animals, destruction of
property, or a pattern of theft or deceit. It is also possible to observe the
manifestation of aggression and/or irritability in the context of a depressive
disorder or episode. The time frame of disruptive behavior may help in
discerning the correct diagnosis or diagnoses. Furthermore, the irritability
manifested in oppositional defiant disorder is characterized by defiant
behavior and possible vindictive behavior. To further identify the presence
of a distinct mood episode or mood disorder, a clinician would rely on the
required neurovegetative criteria met for a mood episode, in addition to the
differences in required time intervals.
See DSM-5 for additional disorders to consider in the differential
diagnosis. Also refer to the discussions of comorbidity and differential
diagnosis in their respective sections of DSM-5.
Summary
• Oppositional defiant disorder is characterized by the presence of
persistent, nonepisodic patterns of angry/irritable mood, defiant
behavior, or vindictiveness for at least 6 months.
• The presence of oppositional behavior creates a significant disruption
in a variety of settings, such as school and/or home.
• The severity of oppositional defiant disorder can be specified as mild,
moderate, or severe, depending on the number of settings.
• The diagnosis of oppositional defiant disorder requires that other
diagnoses in this class be ruled out, as well as medical and
neurodevelopmental disorders.
IN-DEPTH DIAGNOSIS
Intermittent Explosive Disorder
Mr. Peters is a 28-year-old software engineer who presents at the request of a recent court order
for mandatory anger management treatment. He reports that he was charged with domestic
violence after a physical altercation with his wife of 2 years. He endorses a distant history of
school expulsion on two separate occasions in middle school and high school, each for a
physical fight. He reports that as a young boy he witnessed a significant degree of domestic
violence between his parents, who both had alcoholism. He feels that over the years he has been
able to control his anger and his rage, except every now and then when it has become more
difficult and resulted in mild to moderate destruction of his own property. On further
examination, Mr. Peters expresses an overwhelming amount of guilt and shame about his
outbursts, reporting that he knows his anger is often not warranted. He says he loves his wife
more than himself, and he recognizes that the punishment he inflicts on her does not fit the
“crime.” He is now fearful of the dissolution of his marriage and the loss of his job and benefits.
Differential Diagnosis
Because of the low prevalence of intermittent explosive disorder, the
clinician should consider the presence of another mental disorder during
assessment. Irritable and aggressive behavior that is thought to be related to
intermittent explosive disorder may,
in fact, be a manifestation of a general medical condition, substance
abuse/intoxication, mood disorder, personality disorder, or psychotic
disorder, among other possibilities. It is important for clinicians to
understand the temporal relationship of symptoms and to rule out any
episodic quality of the symptoms that may be more characteristic of a mood
disorder, as well as the presence of a substance or medication or withdrawal
from a substance that may be causing a direct psychological effect on the
individual. This evaluation occurs by a thorough clinical interview and
examination, as well as, when indicated, a blood or urine toxicology screen.
The presence of a general medical condition precludes the diagnosis of
intermittent explosive disorder. Ruling out other mental disorders or general
medical conditions is best accomplished by a thorough psychiatric and
neurological exam.
Aggression that is well thought out, motivated, or vindictive in nature
does not meet criteria for intermittent explosive disorder. The presence of a
personality disorder, such as borderline personality disorder or antisocial
personality disorder, does not rule out the presence of intermittent explosive
disorder. The disorders should each be carefully considered, including the
symptom and temporal pattern of each, and both diagnoses may be made if
criteria are met. Most often, the personality disorder is an established
diagnosis, with a new persistent change in the quality of intermittent
impulsive aggression.
See DSM-5 for additional disorders to consider in the differential
diagnosis. Also refer to the discussions of comorbidity and differential
diagnosis in their respective sections of DSM-5.
Summary
• Intermittent explosive disorder is a diagnosis that may be considered
when clinically significant aggression is present.
• Before making the diagnosis of intermittent explosive disorder, it is
important for the clinician to rule out a general medical condition,
substance intoxication or withdrawal, or another mental disorder that
may account for the symptoms.
• A thorough clinical and neurological examination should be completed
as part of the symptom assessment.
• Symptom severity should be assessed on the basis of the functional
impairment that the symptoms are causing.
SUMMARY
Disruptive, Impulse-Control, and Conduct
Disorders
The disruptive, impulse-control, and conduct disorders are among the most
frequent disorders seen by child and adolescent mental health professionals.
The underlying symptom that brings all of these disorders together under
one diagnostic umbrella is the nature of self and interpersonal dysfunction
that occurs. Oppositional defiant disorder initially manifests within the
family, disrupting those relationships, and is most often brought to clinical
attention once the child reaches school age and is beginning to demonstrate
difficulties at school with peers and authority figures. Intermittent explosive
disorder often begins in adolescence but is most likely to present to clinical
attention when dysfunction affects a young adult’s peer relationships and
occupational endeavors.
Behavioral dysregulation is an underlying commonality in this
diagnostic class. Nevertheless, each diagnosis is distinct and has specific
diagnostic criteria. It is important to understand the temporal relationship of
symptoms, in addition to understanding when the symptoms may have first
manifested in a person’s history and how consistent or persistent the
symptoms have remained. With intermittent explosive disorder, for
example, the timing of explosive behaviors, including the length of time
and the frequency, is imperative information to glean in arriving at the
correct diagnosis or diagnoses. As always, for each of these disorders,
keeping the individual’s appropriate expected developmental stage in the
forefront is essential for clarity in understanding the diagnosis.
Diagnostic Pearls
• Across this diagnostic class, all disorders involve the violation of
some aspect of social norms and individual rights.
• The disruptive, impulse-control, and conduct disorders create
clinically significant disturbance and impairment in social,
educational, and vocational activities, as well as in interpersonal
and intrapersonal relationships.
• All diagnoses (except kleptomania) included in the disruptive,
impulse-control, and conduct disorders diagnostic class share, but
do not require, the common symptom of increased rate of anger.
• Although high rates of aggression are commonalities across all
diagnoses in this class (except kleptomania), the types of
aggression are distinctly different across the diagnoses,
specifically regarding premeditated aggression for secondary gain
versus impulsive aggression.
• When evaluating for these diagnoses, it is imperative to be
mindful of psychosocial context, because certain environments,
such as impoverished backgrounds or war-laden areas, may make
the presentation normative.
Self-Assessment
Key Concepts: Double-Check Your Knowledge
What is the relevance of the following concepts to the various disruptive,
impulse-control, and conduct disorders?
• Social norms
• Sequelae of behavioral disruption
• Consequence severity
• Interpersonal functioning
• Expected developmental stage
• Irritability
• Comorbid diagnoses
• Severity of aggression
What is the most striking aspect of Mr. Hill’s history with which a
clinician should be first concerned? Mr. Hill is describing significantly
impaired self-control and interpersonal functioning, a hallmark for
disruptive, impulse-control, and conduct disorders.
PART B
Mr. Hill mentions that most days he is “fine” and can remain calm, but he has always lived in
fear that he is going to explode on anyone at any moment. He says he never has a stretch of days
when he is “moody” or “down,” but rather that “it is just kind of unpredictable, and so random.
Things that should only make me a little upset or cranky make me lose my mind it seems!”
Could Mr. Hill possibly have a mood disorder? Given that Mr. Hill says
his symptoms are random, not episodic, and do not last for a significant
period of time, a mood disorder diagnosis is less likely.
PART C
Mr. Hill, given the opportunity to talk about his childhood, reports that in retrospect “I wasn’t
necessarily moody as a kid, but I had a couple of times when I got in trouble at school and got in
a few fights in middle school.”
Which diagnosis should most likely remain at the top of the differential
for Mr. Hill? Mr. Hill is describing symptoms that are most consistent with
intermittent explosive disorder, with a slight history of disruptive behavior
dating back to childhood. The level of dysfunction is concerning, especially
because it has persisted for quite some time, in that he has been through
three marriages and multiple jobs.
Short-Answer Questions
1. For a child under age 5 to be diagnosed with oppositional defiant
disorder, how often must the symptoms occur?
2. For a child age 5 or older to be diagnosed with oppositional defiant
disorder, how often must the symptoms occur?
3. What are the key categorical components of oppositional defiant disorder
behavior that must be evidenced for diagnostic qualification?
4. How often must vindictive or spiteful behavior occur for oppositional
defiant disorder?
5. What is the required time criterion for an individual to manifest
aggressive impulses for the diagnosis of intermittent explosive disorder?
6. What is the youngest age for which intermittent explosive disorder may
be diagnosed?
7. What is the typical age at onset for intermittent explosive disorder?
Answers
1. Generally, symptoms must occur on most days for a period of at least
6 months for a child under age 5 to be diagnosed with oppositional
defiant disorder.
2. Generally, symptoms must occur at least once per week for at least 6
months for a child age 5 or older to be diagnosed with oppositional
defiant disorder.
3. The key categorical components of oppositional defiant disorder
behavior that must be evidenced for diagnostic qualification are
angry/irritable mood, argumentative/defiant behavior, and
vindictiveness.
4. Vindictive or spiteful behavior must occur at least twice within the
past 6 months for oppositional defiant disorder.
5. For the diagnosis of intermittent explosive disorder, the individual
must manifest verbal or physical aggression twice weekly, on average,
for the past 3 months (without damage or destruction to property or
physical injury to animals or other individuals), or three behavioral
outbursts involving damage or destruction of property and/or physical
assault involving physical injury to animals or other individuals
within a 12-month period.
6. The youngest chronological age for which intermittent explosive
disorder may be diagnosed is 6 years (or equivalent developmental
level).
7. The typical age at onset for intermittent explosive disorder is
childhood or adolescence.
19
“I don’t want to start drinking again, but then I do and I just can’t stop.”
“I always think I can stop heroin on my own, and for a while I can…but
soon I’m back to shooting up and I don’t even know how I got there.”
IN-DEPTH DIAGNOSIS
Alcohol-Related Disorders
A 63-year-old man, Mr. James, comes to the clinic requesting services to assist with stopping
drinking. He was recently arrested for driving under the influence (DUI) and states that his
marriage is “on the rocks.” He reports a long-standing history of alcohol use, starting in his
teens. He says that he began drinking more frequently in his 30s after his first divorce. He states
that he stopped drinking around the time of his second marriage and maintained sobriety for 5
years. However, after his son died in a car crash, Mr. James began drinking again and reports
that his use quickly escalated. He states that currently he drinks about 12 beers per day and often
will get to sleep with a few additional shots of hard alcohol. He reports frequent blackouts and
was told by his doctor that his liver is damaged. He admits that he has had three previous DUIs
and is concerned about the possibility of jail time associated with this most recent charge. Mr.
James reports that he has worked “on and off” doing landscaping and other odd jobs; however,
he struggles financially. His children will not speak to him any longer, and his wife recently
kicked him out of the house when he came home intoxicated. He says that although he knows
that alcohol has created many problems for him and he cannot really afford the way he drinks, he
feels that he cannot stop on his own. He reports that when he tries to stop drinking, he gets the
shakes and feels sick to his stomach.
This interview highlights the key diagnostic criteria for alcohol use
disorder. Initial questions seek to obtain necessary information regarding
age at onset, volume of alcohol consumed, and tolerance (determined by
inquiring about the need for more alcohol to produce the same effects over
time). Symptoms of withdrawal are determined by inquiring about physical
signs and symptoms when consumption of alcohol is reduced or the
individual has tried to stop drinking. Information is also obtained about the
amount of time spent consuming, obtaining, and recovering from the effects
of alcohol. The interviewer also inquires whether the individual experiences
cravings for alcohol and has made unsuccessful attempts to reduce or stop
drinking; whether the individual has used alcohol in hazardous situations
(e.g., driving under the influence); and whether the person has experienced
negative consequences of alcohol consumption and continued drinking
despite awareness of these consequences. Ambivalence regarding stopping
drinking is a common experience among people who have alcohol-related
disorders, because the alcohol is often serving some function (e.g., escape
from negative emotions, numbing, coping with physical pain), and attempts
to stop may have resulted in intense physiological discomfort associated
with withdrawal. Clinicians often expect that individuals will present for
evaluation sure of their desire to stop drinking; however, ambivalence about
change is often a natural aspect of modifying any behavior. If this
ambivalence is present, recognizing it as a natural aspect of recovery is
crucial during an evaluation, for the clinician and client. This recognition
and acceptance enhances rapport and puts in perspective a client’s prior
failures with previous attempts at treatment.
Differential Diagnosis
The differential diagnosis of alcohol-related disorders includes
consideration of the following:
Summary
• Alcohol-related disorders are the most prevalent of the substance-
related disorders in the United States.
• First alcohol intoxication most often occurs during the mid-teens. The
majority of individuals who develop alcohol-related disorders do so by
their late 30s.
• Polymorphisms of genes for alcohol-metabolizing enzymes are often
seen in Asians and affect their response to alcohol. Individuals with
these gene variations experience flushed face and palpitations that may
be severe enough to limit the future consumption of alcohol and
diminish the risk for the development of alcohol-related disorders.
• Alcohol withdrawal is characterized by symptoms that develop
approximately 4–12 hours after the reduction of prolonged heavy
alcohol consumption. Withdrawal symptoms are often intensely
uncomfortable, and individuals may continue to imbibe alcohol to
avoid or reduce these withdrawal symptoms, despite adverse
consequences.
IN-DEPTH DIAGNOSIS
Cannabis-Related Disorders
A 27-year-old man, Mr. Clark, presents with anxiety and insomnia. Questioning reveals that he
has been using 1–2 grams of marijuana daily for the past 7 or 8 years. He began using
intermittently as a teenager but became a daily user as an undergraduate in college. He denies
that his grades were affected by his marijuana use but says he decided not to return to school
after his sophomore year because his work in a small café would better help him achieve his goal
of running a restaurant. He has been working at several restaurants since, initially as a server but
then he became the assistant manager of a local lunch and dinner restaurant. He decided that
“being a waiter is better—I like being in touch with the customers and I get to make my own
hours.” He often works late, coming home after 2 A.M., and he has found that smoking
marijuana before going to bed helps him sleep. If he does not use any cannabis, he reports, he
generally cannot sleep at all. He smokes upon awakening because it helps him “chill.” He reports
that he has had periods of trying to stop in the past year because of the cost, but “it’s the only
thing that helps with my anxiety, and there’s no way I can sleep without it.” He is not currently
in a relationship but lives with three coworkers in a shared apartment.
The cultural acceptance of cannabis for medical purposes has made its
use more acceptable and expanded its availability in certain communities.
This makes teasing out symptoms that may be consequences of use more
difficult for clinicians; similarly, individuals have more difficulty defining
social or occupational problems resulting from use of the substance. Many
individuals use cannabis in the context of the symptoms of posttraumatic
stress disorder and anxiety disorders, such as generalized anxiety disorder
and social anxiety disorder (social phobia). Evaluation of co-occurring
psychiatric disorders is important in providing education, support, and
targeted treatment to these individuals. In the case of Mr. Jackson, issues
specific to his war-related disorders need to be understood and addressed in
the context of his treatment.
Differential Diagnosis
The differential diagnosis of cannabis-related disorders includes
consideration of the following:
Summary
• Cannabinoids, especially cannabis, are the most widely used illicit
psychoactive substances in the United States.
• Rates of cannabis use disorder are greater among males than females.
• The abrupt cessation of daily use often results in cannabis withdrawal
syndrome, which includes symptoms of irritability, anger, anxiety,
depressed mood, restlessness, sleep difficulty, and decreased appetite or
weight loss.
• Cannabis intoxication does not typically result in the severe behavioral
and cognitive dysfunction seen in alcohol intoxication.
• It is essential to the diagnosis to clarify that the cannabis use is
problematic and creating impairments in functioning.
• Cannabis-related disorders might be characterized by symptoms that
resemble those of primary mental disorders.
IN-DEPTH DIAGNOSIS
Opioid-Related Disorders
Emergency physicians treat Mr. Johnson, a 36-year-old man, at the hospital after his girlfriend
found him unresponsive on the floor of his apartment and called an ambulance. They revived
him by the administration of intravenous naloxone. He has a long history of drug and alcohol
use, beginning in early adolescence with marijuana and alcohol. In his late teens he began using
prescription opiates that he stole from family members; he initially took them orally and later
intranasally. This use was followed over the course of several years by the use of intranasal
heroin that he bought on the street. By his early 20s, he was using heroin intravenously. He
committed petty crimes as a teenager, stealing from neighbors or stealing cars; got into multiple
fights with his peers; and was frequently truant from school, ultimately dropping out of high
school before obtaining his diploma. He has a history of multiple arrests, with short jail stays but
no prison sentences. He was mandated to addiction treatment as a condition of probation,
including three episodes of medically supervised withdrawal followed by short-term, abstinence-
based residential treatment. During the year of court-mandated methadone maintenance
treatment, he successfully remained abstinent from opiates, but he continued to use alcohol and
benzodiazepines and left methadone maintenance treatment when his probation ended. He began
using intravenous heroin again, with periods of stopping use by buying buprenorphine/naloxone
or methadone on the street. When his girlfriend found him on the floor, he had taken methadone
that he received illicitly.
Differential Diagnosis
The differential diagnosis of opioid-related disorders includes consideration
of the following:
Summary
• Opioid-related disorders typically are associated with physiological
dependence.
• Co-occurring legal problems and antisocial personality disorder are
common among opioid users, especially among intravenous users.
• Opioid use disorder is often associated with other substance-related
disorders, especially those involving alcohol, marijuana, stimulants,
and benzodiazepines, which are often taken to reduce symptoms of
opioid withdrawal or craving for opiates, or to enhance the effects of
administered opiates.
• Cue-associated conditioned use is common, is associated with relapse
and recurrence, and frequently persists long after cessation of use.
IN-DEPTH DIAGNOSIS
Stimulant-Related Disorders
A 36-year-old man, Mr. Wilson, comes to the clinic after getting into an accident during his job
as a truck driver. Drug testing revealed he had been using methamphetamine, and his union
suggested that he should get treatment. During the course of the interview, he says that he began
taking stimulants in his early 20s, when he was driving a beer truck and making deliveries. He
states that he was “burning the candle at both ends,” trying to party and have fun but also trying
to keep his job, which required long hours at times. He states that recently he has occasionally
shot up, but typically he just pops pills. Mr. Wilson reports that in between truck routes (and
meth use), he crashes “hard,” often feeling down and irritable. He states that he has never really
maintained a long-term relationship with anyone but that he likes to engage in sexual activity
when using and is concerned that he may have acquired a sexually transmitted infection. He
relates that he has always been anxious and describes panic attacks since childhood.
IN-DEPTH DIAGNOSIS
Tobacco-Related Disorders
A 46-year-old man, Mr. Tam, presents with a 33-year history of smoking and is currently
smoking one-and-a-half packs of cigarettes per day. He reports beginning smoking at age 13,
with daily smoking by age 15. By age 18 he was smoking a pack a day. He has made four or five
previous attempts to quit smoking (with abstinence for at least 1 day), with the longest period of
abstinence lasting 9 months. He had tried to use a nicotine replacement patch on two of those
occasions but had a local reaction to it and stopped each time after 3 or 4 days. He was once
prescribed bupropion 300 mg/day, but he took it for only 2 months, stating that he “hates pills”
and wanted to quit on his own.
He reports that he currently begins smoking as soon as he wakes up (“even before I go to the
bathroom”) and that his first cigarette of the day is the most enjoyable. He leaves his building at
work to smoke outdoors, and when he cannot smoke for more than an hour or two, he becomes
“really irritable—like little things can set me off.” He feels that he needs to smoke to “deal with
the anxiety” but remains concerned about his health and is interested in cutting down.
Most smokers begin before they are age 18, but few people who begin
smoking after age 21 develop physiological dependence and have difficulty
stopping. Many smokers make multiple attempts to stop, either with or
without pharmacological treatment, and recurrence is common. Smokers
who report smoking within 30 minutes of awakening are more likely to
have a severe disorder and more difficulty stopping. It is important to
distinguish between withdrawal symptoms and those of a primary anxiety
or mood disorder.
Smoking affects men somewhat more than women, but in this case a
woman with a severe disorder has relapsed in spite of the past health
consequences of her use and her strong desire to not smoke. It is typical that
smokers who stop using continue to have cravings for nicotine long after
they are abstinent and may remain at risk of relapse for years.
Differential Diagnosis
The symptoms of tobacco withdrawal overlap with those of other substance
withdrawal syndromes (e.g., alcohol withdrawal, caffeine withdrawal);
caffeine intoxication; anxiety disorders, such as panic disorder or
generalized anxiety disorder; depressive disorders; bipolar disorders; sleep
disorders; and medication-induced akathisia. Voluntary smoking cessation
or admission to smoke-free inpatient units can induce withdrawal symptoms
that mimic, intensify, or disguise other diagnoses or adverse effects of
psychiatric medications; for example, irritability thought due to alcohol
withdrawal could be due to tobacco withdrawal.
See DSM-5 for additional disorders to consider in the differential
diagnosis. Also refer to the discussions of comorbidity and differential
diagnosis in their respective sections of DSM-5.
Summary
• Tobacco-related disorders generally begin in adolescence.
• Frequent failed attempts to stop are a hallmark of tobacco use disorder.
• An intoxication syndrome does not apply to tobacco; however,
withdrawal is common, and its severity is important to assess.
• Many tobacco users have tobacco-related physical symptoms or
diseases and continue to smoke.
• Tobacco withdrawal usually has an onset within 24 hours of stopping
or cutting down on tobacco use, peaks at 2–3 days after abstinence, and
lasts 2–3 weeks.
• Craving persists long after use has ceased and contributes to
recurrences.
SUMMARY
Substance-Related and Addictive Disorders
The hallmark of substance-related and addictive disorders is that they arise
out of a disruption of the normal reward circuitry of the brain. The reward
system is usually activated by natural rewards such as food or sex, but
addictive substances and behaviors produce a more intense activation such
that normal activities may be neglected.
The substance-related and addictive disorders include difficulties
associated with 10 classes of drugs (alcohol; caffeine; cannabis;
hallucinogens [including phencyclidine]; inhalants; opioids; sedatives,
hypnotics, and anxiolytics; stimulants; tobacco; and other [or unknown]
substances) and gambling. This category of disorders includes both
substance use disorders and substance-induced disorders (intoxication,
withdrawal, and substance/medication-induced mental disorders included
elsewhere in DSM-5, such as substance-induced psychotic disorder or
substance-induced depressive disorder). Many substances can cause
substance-induced mental disorders that resemble other diagnoses, with the
caveat that typically substance-induced symptoms only last temporarily.
Alcohol-related disorders are the most prevalent of the substance-
related and addictive disorders in the United States. Individuals who present
for treatment are often among those with the most severe alcohol-related
problems. Most individuals have a relatively promising prognosis, with
rates of abstinence 1 year following treatment varying from 45% to 65%.
Cannabinoids, typically in the form of marijuana, are the most widely
used illicit psychoactive substances in the United States. The abrupt
cessation of daily use often results in cannabis withdrawal syndrome, which
includes symptoms of irritability, anger, anxiety, depressed mood,
restlessness, sleep difficulty, and decreased appetite or weight loss.
Opioid-related disorders typically are associated with physiological
dependence. Cue-associated conditioned use is common and associated
with relapse and recurrence, and it frequently persists long after cessation of
use.
Stimulant-related disorders develop rapidly when the mode of
administration involves intravenous use or inhalation and progresses over
the course of weeks to months. Oral usage typically results in a slower
trajectory (months to years).
Tobacco-related disorders generally begin in adolescence, and frequent
failed attempts to stop are a hallmark of tobacco use disorder. An
intoxication syndrome is rare among these disorders, but withdrawal is
common and its severity is important to assess. Craving persists long after
use has ceased and contributes to recurrent use.
Although the term dependence has been removed from this diagnostic
class to avoid overlap with pharmacological tolerance and withdrawal, it is
important to highlight the physiological aspect of these disorders and to
understand that the behavioral patterns associated with substance-related
and addictive disorders develop as a result of alterations in reward pathways
—both negative and positive rewards—and that individuals with substance-
related and addictive disorders are typically in a cycle of relapse and
recovery.
Symptoms of withdrawal and tolerance can occur during medical
treatment involving prescription drugs such as opioids, benzodiazepines,
and antidepressants. Tolerance and withdrawal are normal physiological
responses to repeated doses of substances but do not, in and of themselves,
represent a disorder of the brain’s reward system. However, tolerance and
withdrawal can be important physiological signs of the severity of a
substance use disorder; for example, when prescription medications are
used in excess of what is prescribed or for nonmedical reasons, and when
other symptoms are present, substance use disorder can be diagnosed.
Diagnostic Pearls
• Tolerance and withdrawal can be important pharmacological signs
of the severity of a substance use disorder.
• When tolerance and withdrawal occur during the course of
medical treatment, they should not be counted toward the
diagnosis of a substance-related or addictive disorder; however,
when prescriptive medications are used inappropriately or in
excess of what is prescribed and other symptoms are present, such
a diagnosis can be made.
• Behaviors associated with substance-related and addictive
disorders can often be mistakenly viewed as volitional or
manipulative; however, these behavioral patterns result from
alterations in reward pathways and are often tied to physiological
dependence and logical sequelae of the disorders themselves.
• Symptoms associated with substance-related and addictive
disorders may meet criteria for other disorders; however, these
symptoms are typically transient (e.g., hallucinations associated
with stimulant intoxication or anxiety associated with alcohol
withdrawal).
• Many individuals use substances in various contexts; however, it
is important to establish the relationship of substance use to
functionally significant impairment in order to merit a diagnosis of
substance use disorder.
Self-Assessment
Key Concepts: Double-Check Your Knowledge
What is the relevance of the following concepts to the various substance-
related and addictive disorders?
• Factors contributing to relapse
• Nonproblematic usage
• Cue association
• Episodic versus chronic use
• Binges
• Tolerance and withdrawal
• Substance use disorders versus substance-induced disorders
• Functional consequences
Case-Based Questions
PART A
Ms. Forsythe is a 43-year-old woman with bipolar I disorder, who is referred for outpatient
evaluation and treatment. She was recently hospitalized for 10 days for a manic episode in the
context of intermittent adherence to her complex medication regimen. During her
hospitalization, she developed increasing agitation and bizarre behavior with unstable vital signs
and ultimately was diagnosed with alcohol withdrawal and treated with benzodiazepines. Her
mania abated as her medications were reinstituted.
Ms. Forsythe reports that since discharge she has been taking her medications as prescribed,
stating, “That last time really scared me, but I still have my glass of Chardonnay every evening.
It’s really not something I can see giving up.” She reports that her mood is “fine” and that she
has no thoughts of self-harm or suicidal thoughts.
What are the diagnostic issues in this case? What are the most
important principles to consider in evaluation? Ms. Forsythe has a
lifelong mood disorder and was admitted to hospital treatment for mania
and was subsequently found to be in alcohol withdrawal. Consideration
must be given to the role of alcohol in the development of the mood
disorder and a determination made about whether the mood episode was
substance induced. It is unlikely in this case, even though Ms. Forsythe’s
mania was temporally related to her alcohol use, because there is sufficient
information to determine that she has bipolar I disorder and that her lack of
medication adherence was more likely the proximate cause of her relapse.
Further information needs to be gathered—even in the context of what
appears to be well-documented alcohol withdrawal—to accurately diagnose
the extent of her alcohol use disorder.
PART B
Ms. Forsythe currently smokes between a half and a full pack of cigarettes a day, having started
smoking in her teens. She reports making three attempts to stop smoking in the past, with the
longest period of abstinence from smoking lasting 7 days. She had been diagnosed with
attention-deficit/hyperactivity disorder as a child and was intermittently treated with stimulants.
She began using marijuana and drinking alcohol in high school. Her first episode of depression
was at age 12, she believes, and she began taking antidepressants and attending psychotherapy at
that time. While in her first year of college away from home, she had an episode consistent with
mania that required hospitalization, but she finished that year of schooling. She then left college,
moved back to her parents’ home, and finally got a bachelor’s degree at a local college after 6
years.
In her 20s she reports binge drinking on weekends with friends, with some cannabis use, but
she began drinking regularly during the evenings after she moved out of her family home. She
married at age 28 and had two children, but the marriage ended when the children were young
and she shares custody of them with their father. Child protective services had been involved
early in the children’s lives during a period when Ms. Forsythe was severely depressed, but
ultimately she was found fit to parent. She moved back to her parents’ house after her divorce
but lost her job working at a travel agency and found herself drinking each night, up to two
bottles of wine. Because her time was unstructured and her children were at school, she would
begin drinking in the late morning. “It’s not as if I had the shakes or anything. I just wanted to
drink.” Her family has made several attempts to get her to stop drinking, including 5 years
earlier when she had several days of “bad anxiety,” but she went to Alcoholics Anonymous only
“a few times.” She began drinking again, albeit “only a few glasses a day,” after 3 months. She
continues to use marijuana, “three joints a week,” that she states she buys at a marijuana
dispensary “because of my bipolar disorder.”
What additional substance use disorders can now be diagnosed? What
additional information would be helpful in making these diagnoses?
Bipolar disorder frequently co-occurs with substance use disorders, most
commonly with tobacco use disorder but also with alcohol, cannabis, and
other substance use disorders. More information is available to more
precisely diagnose Ms. Forsythe’s alcohol use disorder, which can be done
at this time, but further information may be needed to clarify the cannabis
use as a disorder. The use of marijuana as medicine is growing because
more states and municipalities sanction its use.
Bipolar disorder frequently co-occurs with other psychiatric disorders,
including attention-deficit/hyperactivity disorder and anxiety disorders.
Further information should be gathered about those disorders because they,
in and of themselves, are risk factors for the development of substance use
disorders.
Short-Answer Questions
1. What are the 10 classes of drugs in the DSM-5 substance-related and
addictive disorders diagnostic class?
2. Many substances can cause substance-induced mental disorders that
resemble primary mental disorders. What is a distinguishing factor
between them in terms of course?
3. What is the typical age at onset of first alcohol intoxication?
4. By what age do the majority of individuals develop alcohol-related
disorders?
5. Alcohol withdrawal is characterized by symptoms that develop
approximately how long after heavy alcohol consumption?
6. What is the most widely used illicit substance in the United States?
7. How do rates of cannabis use disorder compare in males and females?
8. What are the symptoms of withdrawal associated with cannabis use
disorder?
9. How do individuals typically begin using stimulants?
10. How does the method of consumption affect the course of stimulant use
disorder?
11. What is the typical method of consumption of stimulants with which
individuals who have stimulant use disorder present?
12. What is episodic use of stimulants?
13. What are binges?
14. When do tobacco-related disorders typically begin?
15. What is the hallmark of tobacco use disorder?
16. How common are intoxication and withdrawal in tobacco-related
disorders?
17. When does tobacco withdrawal typically begin, and how long does it
last?
18. How long do tobacco cravings persist?
Answers
1. The 10 classes of drugs are alcohol; caffeine; cannabis; hallucinogens
(including phencyclidine); inhalants; opioids; sedatives, hypnotics,
and anxiolytics; stimulants; tobacco; and other (or unknown)
substances.
2. Typically, the symptoms of substance-induced mental disorders last
only temporarily, in keeping with the effects of the substance (e.g.,
cannabis-induced anxiety disorder, with onset during intoxication vs.
generalized anxiety disorder); however, substance use and other
mental disorders can be comorbid.
3. Most often first alcohol intoxication occurs during the mid-teens.
4. The majority of individuals who develop alcohol-related disorders do
so by their late 30s.
5. Alcohol withdrawal is characterized by symptoms that develop
approximately 4–12 hours after the reduction of prolonged heavy
alcohol consumption.
6. Cannabinoids are the most widely used illicit psychoactive substance
in the United States.
7. Rates of cannabis use disorder are greater among adult males (2.2%)
than females (0.8%) and among 12- to 17-year-old males (3.8%) than
females (3.0%).
8. The abrupt cessation of daily use often results in cannabis withdrawal
syndrome, which includes symptoms of irritability, anger, anxiety,
depressed mood, restlessness, sleep difficulty, and decreased appetite
or weight loss.
9. Individuals may begin stimulant use in an attempt to lose weight or to
improve performance in school, work, or athletics.
10. Stimulant use disorder develops rapidly when the mode of
administration involves intravenous use or smoking and progresses
over the course of weeks to months. Oral usage typically results in a
slower trajectory (months to years).
11. The large majority of individuals who present for treatment of
stimulant use disorder administer the stimulant via smoking rather
than injecting or snorting.
12. Episodic use of stimulants is separated by 2 or more days of nonuse.
13. Binges are a form of use in which high dosages are consumed over a
period of hours or days.
14. Tobacco-related disorders generally begin in adolescence.
15. Frequent failed attempts to stop are a hallmark of tobacco use
disorder.
16. An intoxication syndrome does not apply to tobacco; however,
withdrawal is common and its severity is important to assess.
17. Onset of tobacco withdrawal usually begins within 24 hours of an
individual stopping or cutting down on tobacco use, peaks at 2–3 days
after abstinence, and lasts 2–3 weeks.
18. Tobacco cravings persist long after use has ceased and contribute to
recurrences.
References
Miller WR, Rollnick S: Motivational Interviewing: Helping People Change, Third Edition. New
York, Guilford, 2013
Substance Abuse and Mental Health Services Administration, Office of Applied Studies: Substance
Abuse Treatment in Adult and Juvenile Correctional Facilities: Findings from the Uniform
Facility Data Set 1997 Survey of Correctional Facilities. Drug and Alcohol Services Information
System Series: S-9 (DHHS Publ No SMA-00-3380). Rockville, MD, Substance Abuse and
Mental Health Services Administration, 2000
20
Neurocognitive Disorders
Brian Yochim, Ph.D.
Maya Yutsis, Ph.D.
Allyson C. Rosen, Ph.D.
Jerome Yesavage, M.D.
IN-DEPTH DIAGNOSIS
Delirium
Mr. Hancock, who is 90 years old, was brought by his daughter to the emergency department
because he started to “ramble and moan” and could not answer questions or track conversations
over the past 2 days. He also started yelling at her about taking his money away but quickly
shifted to crying. He started to experience hallucinations of seeing strangers in his room who
were “chasing” him. These symptoms worsened in the evening. He was sleeping a lot during the
day and was awake much of the night. On admission, he was disoriented and did not know the
date, the day of the week, or his address. He was found to have an acute urinary tract infection.
Upon reviewing his medication regimen, the physicians found that he was taking a
benzodiazepine for “nerves” and 10 other medications. They decided to taper him off the
benzodiazepine and treat the urinary tract infection during a hospital stay. Throughout the
hospital stay, Mr. Hancock was provided with a quiet environment at night to aid his sleep and
frequent gentle reminders of the date and place, with this information written on a white-board
next to his bed. His family placed family pictures around the room. After a week of
hospitalization, his speech became understandable, he was no longer yelling at his loved ones,
and he was able to state the date, his address, and the name of the hospital. Once the urinary tract
infection cleared, Mr. Hancock was discharged home.
Differential Diagnosis
The differential diagnosis of delirium is quite broad because the hallmark of
delirium is rapid onset of impaired attention, reduced awareness or
orientation to the environment, and decline in thinking abilities that
includes, but is not limited to, deficits in memory, disorientation, language,
visuospatial ability, and perception. These difficulties frequently occur in
the context of most major NCDs, medical disorders, and
substance/medication-induced side effects, especially postoperatively, with
the latter two categories necessitating appropriate medical workup.
Similarly, delirium may be seen in many psychiatric disorders (psychotic
disorders including but not limited to schizophrenia, schizophreniform and
brief psychotic disorders, bipolar and depressive disorders with psychotic
features, acute stress disorder, malingering, factitious disorder, and
substance use disorders). The most common differential diagnosis for
delirium includes separating whether a person has major NCD or delirium,
both delirium and NCD, or NCD without delirium. Memory problems are
common to both delirium and major NCD, such as NCD due to Alzheimer’s
disease, but the person with only major NCD is typically oriented to
personal information, such as his or her name, age, and children’s names,
and is aware of surroundings (e.g., hospital vs. home; city and state), and
this awareness does not change over the course of the day. Psychotic
disorders should also be considered in the differential diagnosis when
perceptual changes are present, including visual hallucinations, delusions,
or rambled speech. The rapid onset and fluctuation of these perceptual
changes would be more consistent with delirium, whereas prolonged onset,
chronicity, and stability of these symptoms would suggest presence of a
psychotic disorder. Finally, in the absence of a medical condition or
substance that is associated with rapid changes in thinking abilities,
malingering and/or factitious disorder should be considered in the
differential diagnosis.
Two associated features that help with the diagnosis of delirium include
change in sleep-wake cycle and rapid changes in emotional states that can
vary from hour to hour. Change in sleep-wake cycle may include increased
and excessive daytime sleepiness and difficulty falling asleep and is often
associated with but not required to make a diagnosis. Rarely, a complete
reversal of sleep cycle occurs in which a person sleeps during the daytime
and is awake during all nighttime hours. Rapid changes in emotional states
include nervousness and anxiety and feeling afraid, depressed, irritable,
angry, apathetic, or overly euphoric. Irritability and anger can include
behaviors such as screaming, cursing, moaning, rambled speech, and
unintelligible sounds. These changes occur rapidly and unpredictably, and
they fluctuate hour to hour. Acute stress disorder and delirium can both be
associated with intense feelings of fear, anxiety, and disorientation, but
these symptoms are precipitated by an easily identifiable traumatic event in
the case of acute stress disorder. Behavioral problems increase in the
evening and nighttime with delirium, because the environmental cues of
light and activity are absent.
See DSM-5 for additional disorders to consider in the differential
diagnosis. Also refer to the discussions of comorbidity and differential
diagnosis in their respective sections of DSM-5.
Summary
• A diagnosis of delirium should be considered when 1) a rapid and
abrupt onset of disturbance in attention and disorientation is present,
and 2) the alteration represents a change from the individual’s cognitive
baseline.
• Delirium may be due to substance use intoxication or withdrawal.
• A preexisting history of major NCD highly increases an individual’s
vulnerability to developing delirium.
• Delirium has diverse causes, including a wide range of general medical
disorders (e.g., metabolic issues, hypoxia, hypoglycemia, systemic
infections), polypharmacy (e.g., benzodiazepines, opiate narcotics, and
anticholinergics), recent injury (e.g., TBI, stroke, hypoxia), and
psychiatric disorders (e.g., substance use disorders, acute stress
disorder, somatic symptom and related disorders, factitious disorder).
IN-DEPTH DIAGNOSIS
Major or Mild NCD Due to Alzheimer’s Disease
Mr. Green is an 80-year-old man who reports that he is having difficulty finding the right word
when speaking, but he attributes this to his age. His wife reports that he increasingly repeats
stories to her and asks the same question several times a day. This has progressively worsened
over the past year, with no clear precipitating event. His wife also reports that she has taken over
managing the finances because he has made a few errors in bill payments in the last year. Upon
interview, he is unable to describe current events in the news, other than making vague
references to wars in parts of the world. On neuropsychological assessment, his performance on
measures of memory, naming, and executive ability is at the 1st percentile as compared with
adults his age. During the evaluation he makes several socially inappropriate comments but is
friendly and cooperative. Complex attention and visuoperceptual ability are normal for his age
and not suggestive of decline. He and his wife report that he has three or four alcoholic drinks
per week but he has never been a heavy drinker. Each denies that he has any current symptoms
of depression. He lost consciousness once for approximately 5 minutes about 20 years ago in a
motor vehicle crash, with no other reported brain injuries. Magnetic resonance imaging (MRI)
reveals cortical atrophy, with pronounced atrophy in the medial temporal lobes shown on a
coronal scan, and age-appropriate white matter cerebrovascular changes. He is physically
healthy with no acute infections and has no family history of neurological disease. No genetic
testing has occurred.
This case illustrates atypical mild NCD due to Alzheimer’s disease and
important components to consider when working with older Japanese
Americans. Although Alzheimer’s disease typically causes predominant
memory deficits early on, occasionally nonamnestic symptoms occur first.
This woman is showing some symptoms of the visuospatial variant that
results from posterior cortical atrophy, with difficulty perceiving other cars
while driving, difficulty reading, and inability to recognize familiar faces.
This diagnosis is supported by MRI findings of atrophy in the occipital and
parietal lobes. Visual perception deficits can also be caused by Lewy body
disease, but Ms. Sato lacks other symptoms of this disease (e.g., visual
hallucinations, fluctuating attention, parkinsonian symptoms).
Neuropsychological testing found impairment in one area, visual
perception, but other areas were intact; thus, mild rather than major NCD
would be diagnosed. Ms. Sato and her family are of Japanese ethnicity;
individuals from this background are more likely to attribute their
symptoms to normal aging and may not seek help when needed. When
evaluating for symptoms of depression that may contribute to cognitive
presentation, clinicians should keep in mind that people of Japanese
ethnicity may be more likely to report physical symptoms (e.g., sleep and
appetite disturbances) than depressed mood. It is also important when
working with members of this ethnic group to incorporate the closeness of
the family unit when planning care.
Differential Diagnosis
Major or mild NCD due to Alzheimer’s disease differs from vascular NCD
in that most often a discrete cerebrovascular event or a preponderance of
vascular damage seen on neuroimaging can be linked with the development
of vascular NCD, whereas Alzheimer’s disease develops more gradually
without a clear precipitant. Other diseases such as Lewy body disease or
Parkinson’s disease also develop gradually but have symptoms (e.g., visual
hallucinations, motor symptoms) that are not characteristic of Alzheimer’s
disease. Symptoms of executive dysfunction and decline in social cognition
can occur in both Alzheimer’s disease and the behavioral variant of fronto-
temporal NCD, and language difficulties (e.g., poor word finding or speech
production) can occur in both Alzheimer’s disease and the language variant
of frontotemporal NCD. However, memory tends to be impaired as well in
Alzheimer’s disease, whereas it is spared in the early stages of
frontotemporal degeneration. Frontotemporal NCD occurs most often in
patients younger than age 65 (although 20%–25% of cases are older than
65), whereas Alzheimer’s disease tends to develop later in life.
Other medical causes of cognitive dysfunction (e.g., vitamin B12
deficiency, thyroid disorders) should be ruled out in the assessment through
lab work. Symptoms of delirium tend to develop rapidly (e.g., in hours or
days), whereas symptoms of Alzheimer’s disease typically manifest over
the span of months.
Major depressive disorder, generalized anxiety disorder, and
posttraumatic stress disorder (PTSD) in older adults can often interfere with
cognitive functioning. However, these disorders typically do not lead to the
cognitive profiles associated with Alzheimer’s disease. For example,
although individuals with these disorders may have difficulty acquiring new
information on memory tasks, they are typically able to retain information
over time, whereas people with Alzheimer’s disease forget information over
time. Likewise, language difficulties occur in Alzheimer’s disease but not
typically in major depressive disorder, generalized anxiety disorder, or
PTSD.
Alzheimer’s disease occurs later in life, when persons are more
susceptible to a variety of other medical problems. Alzheimer’s disease, like
other conditions that compromise the brain, increases the risk of delirium,
and individuals often are found to be experiencing both conditions. Vascular
disease is common in older adults and increases the risk for Alzheimer’s
disease, in addition to directly causing NCD on its own. Comorbid vascular
disease may lead to symptoms of decreased processing speed and executive
dysfunction. Depressive symptoms have a strong relationship with
Alzheimer’s disease; some literature has found that a history of depressive
symptoms may increase the risk of Alzheimer’s disease, and newly
diagnosed individuals with Alzheimer’s disease often develop symptoms of
depression in response to the diagnosis. Clinicians should be careful to
assess suicidal ideation in newly diagnosed patients, particularly those who
are demographically at increased risk of suicide (e.g., older white men).
Comorbid depressive symptoms may also accelerate cognitive decline in
individuals with Alzheimer’s disease. Alcohol abuse in older adults can
worsen symptoms of Alzheimer’s disease, and individuals should decrease
or cease their usage if a history of alcohol abuse is present.
See DSM-5 for additional disorders to consider in the differential
diagnosis. Also refer to the discussions of comorbidity and differential
diagnosis in their respective sections of DSM-5.
Summary
• Alzheimer’s disease, the most common cause of NCD, most often
involves progressive deterioration in memory and other cognitive
abilities.
• Major NCD due to Alzheimer’s disease involves impairment in two or
more domains and interference with ability to complete everyday
activities.
• Mild NCD due to Alzheimer’s disease involves decline in one or more
cognitive domains, but the deficits do not interfere with independence
in everyday activities.
• The criteria for probable versus possible Alzheimer’s disease differ
depending on whether the NCD is major or mild.
• The main biomarker included in the diagnostic criteria is evidence of a
causative Alzheimer’s disease genetic mutation from family history or
genetic testing.
IN-DEPTH DIAGNOSIS
Major or Mild NCD With Lewy Bodies
Ms. Farley, a 66-year-old woman, presents with a history of worsening anxiety and depression
that began 18 months ago. According to her husband, she had the belief that there was a third
person in the house, and she also saw people in the house who were not there. She often slept for
several hours during the day and would have periods when she would stare into space. One night
she asked her husband what he was doing in her bed, as if she did not recognize him. Her
husband had taken over the laundry chores because intermittently Ms. Farley became upset and
frustrated that she could not figure out how to use the washing machine, which she had used
throughout their marriage. She was hospitalized briefly, during which a full evaluation was
conducted with no evidence of a medical contributor to her symptoms. She was given
neuroleptic medication, and at the time of her discharge from the hospital, staff noted that she
had signs of a movement disorder and the medication was stopped. Neurological evaluation
revealed subtle motor signs consistent with those observed in Parkinson’s disease, which had
previously not been noticed by the woman or her husband. Formal neuropsychological
evaluation revealed that Ms. Farley has significant executive and visuospatial deficits that cannot
be accounted for by a movement disorder. She has fears of falling, but her most disabling fear
relates to needing to use a bathroom while away from home. Her husband says that she often
turns back from leaving the house because she worries that she will need to use the bathroom but
not have one available.
Differential Diagnosis
The pattern of symptom progression and the relative onset of cognitive and
motor dysfunction are important in discriminating NCDLB from other
NCDs. When fluctuations are reported, a careful medical evaluation to rule
out a delirium is important. Although the patterns of cognitive deficits in
NCD due to Parkinson’s disease and in NCDLB are similar, major cognitive
deficits develop 1 year before symptoms of a movement disorder in
NCDLB. In contrast, in NCD due to Parkinson’s disease, the stage of major
NCD develops at least 1 year after Parkinson’s disease has been diagnosed.
Assessing whether the patient has suggestive features, REM sleep behavior
disorder, and a history of an adverse reaction to neuroleptics further
confirms the diagnosis of NCDLB. Suggestive features such as frequent
falls and autonomic dysfunction such as urinary incontinence are important
to describe and refer for clinical management (for an extensive review, see
Ferman 2013). Once a patient develops motor symptoms and slowing,
depressed scores on speeded measures of executive control will be
exaggerated. A comprehensive neuropsychological assessment will thus be
helpful in discriminating mild from major NCDLB and separating the
contribution of cognitive dysfunction versus motor dysfunction to
functional disability.
Another differential diagnosis to consider with NCDLB is NCD due to
Alzheimer’s disease, because the latter is the most common disorder in late
life and both it and NCDLB develop gradually. The cognitive dysfunction
in Alzheimer’s disease typically involves memory and confrontation
naming, domains that are relatively preserved in NCDLB. In contrast,
executive and visuospatial dysfunctions are more typical of NCDLB. The
three core features of NCDLB (visual hallucinations, motor symptoms, and
fluctuating cognition and attention) are not typical of early Alzheimer’s
disease.
NCD due to Alzheimer’s disease and NCDLB both develop gradually,
unlike vascular dementia, which typically develops in a stepwise pattern
and is associated on MRI with strokes and white matter hyperintensities.
Fluctuations in alertness and cognition are also not consistent with
Alzheimer’s disease. Other disorders that lead to hallucinations are
peduncular hallucinosis, a rare phenomenon that has MRI findings, and
schizophrenia, which has much earlier onset.
See DSM-5 for additional disorders to consider in the differential
diagnosis. Also refer to the discussions of comorbidity and differential
diagnosis in their respective sections of DSM-5.
Summary
• The core diagnostic features of NCDLB are fluctuating cognition,
attention, and alertness; visual hallucinations; and movement disorder
symptoms.
• Neuroleptic medication can worsen functioning. This associated feature
is termed neuroleptic sensitivity.
• REM sleep behavior disorder, a condition in which the normal
paralysis of movement during sleep is absent, is also a suggestive
feature.
• A careful description of the time course of the illness is crucial to
discriminate NCDLB from NCD due to Parkinson’s disease. In
NCDLB, the major cognitive deficits develop before the onset of motor
symptoms, but in NCD due to Parkinson’s disease, the major NCD
evolves long after the movement disorder is established.
IN-DEPTH DIAGNOSIS
Major or Mild Vascular NCD
Mr. Vicker, a 66 year-old man, and his partner report that he has increasing difficulty
concentrating and making decisions. He takes longer to complete projects than he used to. They
believe these symptoms began after a day when he experienced left leg numbness and tingling in
his left hand. He denied experiencing other neurological symptoms around this time, other than a
general, vague sensation of feeling “odd.” Neuroimaging shows evidence of small infarctions
surrounding the ventricles, predominantly on the right side of his brain. A small degree of
atrophy, normal for his age, is also seen on imaging. He has a history of atrial fibrillation,
diabetes, cigarette smoking, and hypertension. Neuropsychological assessment finds evidence of
mild impairment (15th percentile) in speed of processing, complex attention, and executive
functioning, particularly on speeded tasks. Tests of memory show mild difficulty learning new
information but minimal forgetting of what he has learned. He is able to continue in his
occupation, maintains his level of independence in other areas of functioning, and is aware of his
weaknesses.
This case illustrates mild vascular NCD. Mr. Vicker seems to have
experienced a mild ischemic event when his left side became numb and
tingly. His deficits can be temporally related to this event. Neuroimaging
shows evidence of cerebrovascular damage to his brain, which may be
related to the event he described. He shows the typical cognitive profile of
impaired information processing, complex attention, and executive
functioning. Subcortical vascular damage can result in deficits in these
areas. His history of atrial fibrillation, diabetes, smoking, and hypertension
provides further evidence for a vascular cause. The lack of significant
atrophy and his performance on memory testing help to rule out
Alzheimer’s disease as a cause. Although he showed impairment in three
cognitive domains, the impairments are mild and do not significantly
interfere with his independence. Thus, the disorder is mild in severity.
Differential Diagnosis
One key difference between vascular disease and other causes of NCD is
that vascular disease, particularly in the form of a large stroke, often can
lead to a stepwise pattern of decline, with sudden steep declines followed
by periods of stability. In contrast, Alzheimer’s disease, Lewy body disease,
and frontotemporal degeneration cause a more continual, linear progression
of decline. However, vascular disease in the absence of major stroke events
can also cause a decline that is continual. In situations such as this,
neuroimaging can show cerebrovascular damage significant enough to
cause cognitive impairment, and can be used to assess whether there is
significant atrophy suggestive of Alzheimer’s disease. Notably, risk factors
for vascular NCD (e.g., hypertension, diabetes) are also risk factors for
Alzheimer’s disease, and patients with evidence of both Alzheimer’s
disease and cerebrovascular disease meet the criteria for NCD due to
multiple etiologies. NCDLB typically involves fluctuating cognition, visual
hallucinations, and parkinsonian symptoms, which do not normally occur in
vascular NCD. Lastly, frontotemporal degeneration also can cause
executive impairment, but in a more gradual fashion than what is seen in
vascular NCD and with less involvement of cerebrovascular disease.
Individuals with vascular NCD often have overlapping symptoms of
depression related to damage to frontal-subcortical networks. Clinicians
must take care to assess whether a person’s deficits are due to a
combination of vascular disease and depression or to one factor alone.
Concomitant symptoms of depression can worsen the clinical picture and
unfortunately may not respond to the same treatments as a nonvascular
depression.
Individuals with TBI often experience cerebrovascular damage such as
hemorrhages and subdural hematomas. Although these conditions on their
own cause deficits that could be considered NCD associated with vascular
disease (i.e., strokes), the primary cause is the TBI, and thus the patient
would be diagnosed with NCD due to TBI. Strokes in certain locations
(e.g., the basal ganglia or the hippocampus) can cause deficits that mimic
diseases that are highly associated with these locations (e.g., Parkinson’s
disease, Alzheimer’s disease), but the appropriate diagnosis is vascular
NCD. Individuals can also experience delirium when in the acute stages of
a stroke. Lastly, other medical conditions such as brain tumors or multiple
sclerosis can also result in cognitive impairment, sometimes with profiles
similar to that seen in vascular NCD, and vascular NCD is not diagnosed if
these conditions can account for the cognitive deficits.
See DSM-5 for additional disorders to consider in the differential
diagnosis. Also refer to the discussions of comorbidity and differential
diagnosis in their respective sections of DSM-5.
Summary
• Vascular NCD should be suspected if the onset of deficits is temporally
linked with a cerebrovascular event or if there is decline in complex
attention (including processing speed) and executive function.
• Probable vascular NCD is diagnosed if there is neuroimaging evidence
of cerebrovascular disease, a temporal connection between onset of
deficits and a documented cerebrovascular event, or clinical and genetic
evidence of cerebrovascular disease.
• Symptoms of depression are particularly common in patients with
vascular NCD.
• Many patients with vascular NCD will show a stepwise decline,
whereas patients with Alzheimer’s disease, Lewy body disease, and
frontotemporal degeneration will show more gradual decline.
IN-DEPTH DIAGNOSIS
Major or Mild NCD Due to TBI
Ms. O’Brien is 60 years old and was involved in a car crash in which her head hit the
windshield. She lost consciousness for an estimated 10–15 minutes. She recalls approaching the
intersection while driving but cannot remember other details until paramedics arrived on the
scene. Her Glasgow Coma Scale score was 14 at the time. She presents in an outpatient primary
care clinic 2 weeks later and reports having headaches, concentration difficulties, fatigue, and
increased sensitivity to light since the accident. No evidence of seizures, hemiparesis, or visual
disturbances is found. A cognitive screen finds deficits in attention and working memory and on
speeded tasks. Ms. O’Brien is less productive at work, and she takes twice as long to complete
tasks as before the accident. She has to take frequent rest breaks every 2–3 hours and becomes
easily fatigued. She left work early several times during the first week after the event but soon
resumed her usual work schedule. Her medical workup is otherwise normal, and lab results are
in the normal range, ruling out a delirium. An MRI does not show any damage. Three weeks
after the accident, she meets diagnostic criteria for mild NCD due to TBI. Six months after the
injury, she completes a neuropsychological assessment. She performs in the normal range on
measures of effort, attention, working memory, processing speed, and other domains. She denies
experiencing any cognitive difficulties at 6 months postinjury and feels that she is “back to
normal.”
This case illustrates one important aspect of mild NCD due to TBI that
differs from most other NCDs: individuals can experience an NCD at one
time point but recover enough that they no longer meet criteria for the NCD
(this can also occur with vascular NCD). Ms. O’Brien met diagnostic
criteria for mild NCD in the weeks after her injury, which is a common
outcome for people who have experienced a mild TBI. It is typical for the
majority of such patients to completely recover to baseline functioning
within 3 months after the injury. Ms. O’Brien showed typical symptoms
after the event, including headaches, fatigue, increased sensitivity to light
(i.e., photosensitivity), and poor attention, working memory, and processing
speed.
The clinician first establishes the nature of cognitive deficits that the
patient experiences. Once reduced attention and processing speed are
identified, the time at onset of cognitive deficits is clarified to determine
whether the patient meets criteria for mild or major NCD due to TBI, which
requires the onset of cognitive difficulties immediately following the injury.
Although the severity of initial TBI is not necessarily predictive of mild
versus major NCD due to TBI, it is always helpful to assess for the severity
of initial injury, which determines prognosis in regard to the timeline of
recovery, and to assess whether persisting difficulties are due to other
causes (e.g., other medical problems, substance use, anxiety, depression,
pain, medication effects). For example, if the patient had suffered a mild
TBI and continues to experience cognitive deficits 3 months later, other
contributing factors should be explored because complete cognitive
recovery should occur within weeks to 3 months after mild TBI. To rule out
the presence of emotional distress that can further compound and/or
contribute to ongoing cognitive deficits, the clinician rules out the presence
of depression, anxiety, or emotional control issues. Finally, to differentiate
between mild and major NCD, the clinician asks about changes in everyday
functioning. Compared to those with mild NCD, individuals with major
NCD due to TBI have difficulty completing daily activities independently
and need assistance.
Differential Diagnosis
Although the diagnosis of major or mild NCD is not necessarily related to
the initial severity of TBI, in some instances the severity of cognitive
decline and/or the lack of expected improvement in symptoms over time
may appear inconsistent with the nature and severity of injury. After careful
medical record review and ruling out neurological complications (e.g.,
chronic hematoma, stroke, seizure activity), the clinician should consider
the possibility of psychiatric, substance use, and somatic symptom and
related disorders. PTSD can frequently co-occur with the NCD and can be
the primary diagnosis explaining ongoing cognitive deficits, especially for
individuals who experience cognitive deficits that are not necessarily
consistent with the severity of the initial TBI. Difficulty concentrating,
irritability, sensitivity to noise and light, headaches, depressed or anxious
mood, and behavioral disinhibition are common to both PTSD and NCDs
due to TBI, but the symptom severity usually improves, if not resolves, in
NCDs due to mild to moderate TBI in 3–6 months after TBI, whereas
symptoms often persist, if not worsen, when due to PTSD and other
psychiatric disorders. When younger adults experience an NCD subsequent
to a TBI, a clinician can be confident that the etiology is not a progressive
neurodegenerative disorder such as Alzheimer’s disease because of the
extremely low prevalence in younger adults. TBI victims often experience
vascular damage, such as hemorrhages and subdural hematomas. Although
these conditions on their own cause deficits that could be considered NCD
associated with vascular disease (i.e., strokes), the primary cause is the TBI;
thus, the person would be diagnosed with an NCD due to TBI.
Many symptoms associated with NCDs due to TBI overlap with mood-
related disorders, including depressed or anxious mood, headaches,
sensitivity to light and noise, and changes in personality (e.g., behavioral
disinhibition, irritability, aggressiveness). Substance use (either preexisting
or following TBI) is commonly seen in those with NCDs due to TBI and
can significantly compound and exacerbate cognitive deficits and functional
difficulties in daily life. As noted earlier, many symptoms associated with
TBI may overlap with symptoms found in cases of PTSD, and the two
disorders can be comorbid, especially in military populations. Additionally,
prominent neuromotor features (e.g., ataxia, loss of balance, incoordination,
motor slowing) can be present in major NCD due to TBI, but medical and
neurological examinations are needed to rule out other neurological causes
(e.g., seizures, tumors, movement disorders).
See DSM-5 for additional disorders to consider in the differential
diagnosis. Also refer to the discussions of comorbidity and differential
diagnosis in their respective sections of DSM-5.
Summary
• Mild or major NCD due to TBI is determined by the severity of
cognitive decline following injury and its impact on the person’s ability
to perform activities of daily living. Specification of mild versus major
NCD due to TBI is not determined by the severity of injury.
• Severity of injury is determined by characteristics at the time of injury
(i.e., loss of consciousness, posttraumatic amnesia, and Glasgow Coma
Scale score), not by the severity of cognitive decline following injury.
• A high blood alcohol level at the time of injury can depress the initial
Glasgow Coma Scale score and result in an inaccurate measure of
injury severity.
• Unlike other NCDs, NCD due to TBI is unique in regard to recovery
trajectory: the individual can experience either mild or major NCD
immediately after injury, transition from major to mild NCD, and
possibly recover enough that he or she no longer meets criteria for the
NCD.
• For NCD due to mild TBI, the majority of patients completely recover
to baseline functioning within 3 months after injury.
• The clinician should evaluate the patient’s history of and current
symptoms of mood and substance-related disorders. If neurocognitive
deficits worsen or persist longer, it is important to consider other
factors (e.g., psychiatric, substance, neurological, or somatic symptom
and related disorders) that can be contributing to ongoing cognitive
difficulties.
SUMMARY
Neurocognitive Disorders
Table 20–1 summarizes the diagnostic guidelines covered in this chapter for NCDs due to
Alzheimer’s disease, NCDLB, vascular NCDs, and NCDs due to TBI. Cognitive dysfunction is a
common feature of all of these NCDs. Major and mild NCDs are distinguished by the severity of
cognitive dysfunction as well as functional impairment. For major NCDs, individuals must have
functional impairment, defined as a need for assistance with everyday functioning. Independence
in everyday functioning is characterized by the ability to complete instrumental activities of
daily living without assistance, such as managing finances and medications, preparing meals,
and arranging transportation. In degenerative disorders, in which there is no clear event such as a
head injury, the clinician needs to specify probable versus possible, and these criteria vary across
the syndromes (as described in Table 20–1). The clinician also needs to indicate whether there is
behavioral disturbance. In mild or major NCDs due to TBI, it is important to identify the nature
of the injury and the duration of loss of consciousness and posttraumatic amnesia, which occurs
immediately after TBI and includes the coma period as well as the time after the recovery of
consciousness. It can be assessed by asking a patient what the first thing is that he or she
remembers after the event.
Symptoms
Insidious onset and gradual progression of impairment in one or more
cognitive domains. Disturbance is not better explained by another process.
Probable Alzheimer’s disease Probable Alzheimer’s disease
Genetic mutation
Genetic mutation
Or all of the following:
1. Decline in memory and
Possible Alzheimer’s disease All of
learning and at least one
the following:
other cognitive domain
2. Progressive and gradual 1. Decline in memory and
decline learning
3. No evidence of mixed
2. Progressive, gradual decline
etiology
Otherwise, possible Alzheimer’s 3. No evidence of mixed
disease etiology
Major NCD with Lewy bodies Mild NCD with Lewy bodies
Symptoms
Insidious onset and gradual progression of impairment in one or more
cognitive domains.
Disturbance is not better explained by another process.
Probable Lewy bodies
Two core features, or at least one core and one suggestive feature
Possible Lewy bodies
One core feature, or at least one suggestive feature
Major vascular NCD Mild vascular NCD
Symptoms
Clinical features of vascular etiology, suggested by either
1. Prominent decline in complex attention, processing speed, and
executive function; or
2. Onset of cognitive deficits is temporally related to one or more
cerebrovascular events.
Evidence of cerebrovascular disease.
Disturbance is not better explained by another process.
Probable vascular NCD
One of the following is present:
1. Neuroimaging evidence of cerebrovascular disease or
2. Cognitive deficits with onset temporally due to cerebrovascular
event(s) or
3. Genetic and clinical evidence
Possible vascular NCD
Clinical criteria are met, but neuroimaging is not available and
temporal relationship with one or more cerebrovascular events is not
established.
Symptoms
Evidence of TBI (at least one of the following):
1. Loss of consciousness
2. Posttraumatic amnesia
3. Disorientation and confusion
4. Neurological signs
Onset is immediately after TBI or after recovering consciousness and
persists past acute postinjury period.
Diagnostic Pearls
• NCDs involve a decline in cognitive functioning from a prior
level. These disorders differ from intellectual disabilities, which
are present from birth or from a very young age.
• Delirium occurs when a medical condition interferes with brain
functioning, causing symptoms of disorientation and cognitive
impairment.
• Major and mild NCDs both involve impairment in one or more
cognitive domains (two or more domains are required for NCD
due to Alzheimer’s disease). In major NCD, significant cognitive
impairments interfere with independence in everyday activities. In
mild NCD, modest cognitive impairments do not interfere with
independence in everyday activities.
• The best way to establish the main symptoms of the NCDs (i.e.,
cognitive deficits) is through cognitive testing. A patient’s self-
report of cognitive deficits is not sufficient for diagnosis.
Moreover, the nature of some NCDs often precludes the patient’s
own awareness of a disorder being present.
• Unlike other psychiatric disorders, the diagnosis should be
thought of as the syndrome (neurocognitive disorder) in addition
to the likely neurological cause (e.g., Alzheimer’s disease, TBI).
• Alzheimer’s disease is the most common degenerative cause of
NCD.
• NCD due to TBI can be acquired at any age, whereas the other
NCDs occur most often in older adults.
• To ensure that treatable causes of cognitive dysfunction are
considered, cognitive impairment in older adults should be thought
of as being due to delirium, unless proven otherwise.
• Hallucinations in delirium as well as in NCDLB are most often
visual, whereas hallucinations in schizophrenia are more often
auditory, although each of these disorders can involve
hallucinations in other modalities.
Self-Assessment
Key Concepts: Double-Check Your Knowledge
What is the relevance of the following concepts to the various NCDs?
• Posttraumatic amnesia
• Hallucinations
• Vascular disease
• Learning and memory
• Visuospatial skills
• Stroke/cerebrovascular accident
• Neuroleptic sensitivity
• Loss of consciousness
• Cerebral autosomal dominant arteriopathy with subcortical infarcts and
leukoencephalopathy (CADASIL)
• Glasgow Coma Scale
Case-Based Questions
PART A
Ms. Nicolas is 75 years old and reports that her memory has been declining gradually over the
past 2 years. Her partner reports that she frequently repeats questions and occasionally forgets
where she set out to go on an errand. Each denies any changes in Ms. Nicolas’s personality or
behavior.
PART B
Upon clarification, these symptoms appear to have started abruptly, when Ms. Nicolas presented
at the emergency department with complaints of sudden visual disturbance. She believes that the
symptoms began then, but her partner believes that some memory deficits were present
beforehand.
What problems can cause a sudden development or worsening of
cognitive problems? Sudden onset of memory deficits can be due to a
stroke or other acute medical condition (e.g., encephalitis, expansion of a
brain tumor to a critical size). Clinicians often struggle with discrepant
reports; in this case, the memory deficits may have started before the event
(consistent with Alzheimer’s disease), may have been caused by this event
(consistent with vascular disease), or may represent precipitant Alzheimer’s
disease worsened by a stroke.
PART C
Ms. Nicolas undergoes an MRI, which shows evidence of a stroke in the distribution of her
hippocampal memory centers and her occipital areas of visual processing. Genetic testing finds
that she carries the apolipoprotein E4 gene, and she reports that both her parents had been
diagnosed with Alzheimer’s disease. Neuropsychological testing shows impairments in memory
and visual perception but intact functioning in other areas. Review of her medications finds that
she recently began taking a benzodiazepine for her “nerves.”
What are all the potential etiologies of her deficits, and are any of them
reversible? The review of records uncovered three possible causes of Ms.
Nicolas’s memory deficits: 1) MRI evidence of a stroke in the artery that
feeds the hippocampus, which would be expected to lead to memory
deficits; 2) genetic testing consistent with Alzheimer’s disease; and 3)
recent introduction of a medication (a benzodiazepine) that often interferes
with cognition. If she is experiencing symptoms of an anxiety disorder,
appropriate treatment must be initiated because anxiety can also interfere
with cognition. This case illustrates some of the complexities of assessing
and treating cognitive deficits in older adults; many disorders are
multifactorial in etiology, with some reversible causes, some stable, and
some degenerative.
Short-Answer Questions
1. Which events do patients with Alzheimer’s disease have the most
trouble remembering: recent events or events from the distant past?
2. True or False: The diagnosis of major NCD due to Alzheimer’s disease
requires evidence of cognitive decline in only learning and memory.
3. Aside from cognitive test performance, what is the key distinguishing
feature used to differentiate between mild and major NCD?
4. What is the essential feature of delirium?
5. Visual hallucinations can occur in NCDLB and what other NCD?
6. What are the three core diagnostic features of major or mild NCDLB?
7. Which cognitive domains are most prominently affected in major or
mild vascular NCD?
8. True or False: Probable vascular NCD can be diagnosed if there is
neuroimaging-supported evidence of extensive cerebrovascular disease
resulting in the neurocognitive deficits.
9. Name five risk factors associated with major or mild vascular NCD.
10. True or False: The diagnosis of mild versus major NCD due to TBI is
based on the initial severity of brain injury.
Answers
1. Patients with Alzheimer’s disease have the most trouble remembering
recent events.
2. False. One other cognitive domain must be impaired.
3. Everyday functioning is the key component used to differentiate
between mild and major NCD. For mild NCD diagnosis, the patient’s
ability to function independently is relatively intact, whereas for
major NCD diagnosis, the patient depends on others for assistance in
instrumental activities of daily living.
4. The essential feature of delirium is disturbance in attention and/or
awareness that is rapid in onset.
5. Visual hallucinations can occur in delirium.
6. The three core diagnostic features of major or mild NCDLB are
fluctuating cognition (attention and awareness); recurrent visual
hallucinations; and spontaneous features of parkinsonism, with onset
after the development of cognitive decline.
7. Complex attention (including processing speed) and executive
function are most prominently affected in major or mild vascular
NCD.
8. True. Neuroimaging-supported evidence of extensive cerebrovascular
disease resulting in the neurocognitive deficits is sufficient to be
diagnosed with probable vascular NCD.
9. Risk factors associated with major or mild vascular NCD include
hypertension, diabetes, smoking, obesity, high cholesterol levels,
atrial fibrillation, cerebral amyloid angiopathy, and hereditary
conditions such as CADASIL.
10. False. The mild versus major designation is based on the severity of
cognitive deficits.
References
Ferman TJ: Dementia with Lewy bodies, in Mild Cognitive Impairment and Dementia: Definitions,
Diagnosis, and Treatment (Oxford Workshop Series). Edited by GE Smith, Bondi MW. New
York, Oxford University Press, 2013, pp. 255–301
Ferman TJ, Smith GE, Boeve BF, et al: DLB fluctuations: Specific features that reliably differentiate
DLB from AD and normal aging. Neurology 62:181–187, 2004
McKeith IG, Dickson DW, Lowe J, et al: Diagnosis and management of dementia with Lewy bodies:
third report of the DLB consortium. Neurology 65:1863–1872, 2005
Walker MP, Ballard CG, Ayre GA, et al: The Clinician Assessment of Fluctuation and the One Day
Fluctuation Assessment Scale. Two methods to assess fluctuating confusion in dementia. Br J
Psychiatry 177:252–256, 2000
21
Personality Disorders
Daryn Reicherter, M.D.
Laura Weiss Roberts, M.D., M.A.
IN-DEPTH DIAGNOSIS
Borderline Personality Disorder
Ms. Hernandez is a 26-year-old single white woman who presents to the emergency department
after consuming 20 tablets of her antidepressant medication. She says she took the pills suddenly
after an intense fight and “breakup for the last time” with her boyfriend. Ms. Hernandez called
her boyfriend immediately after taking the pills, and he came with her to the emergency
department.
Ms. Hernandez reports that she and her boyfriend have had an “on-and-off” relationship—
she says she always feels that she “needs” him but they have “lots of fights” and cannot “hold it
together” for more than a couple of weeks at a time. Most of her family relationships are
strained, but she says her sister is her “best friend” now that they “are on speaking terms with
each other again.” Ms. Hernandez says that she took the overdose because she “can’t stand to be
alone.” She volunteers that she “sees lots of other guys” and has a pattern of risky sexual
behaviors when she and her boyfriend are having problems. She engages in binge drinking
(“only when I am really mad”) many times each month. Ms. Hernandez reports that she has had
“anger issues” and “is always suicidal” since her teenage years. She has been in therapy many
times, with many different therapists because she cannot find one that “understands” her. “At
first they seem to ‘get me’—understand what I am going through—but then they always pull
back at some point.”
Throughout the interview, Ms. Hernandez is highly emotional and affectively labile, ranging
from intense anger to tearfulness. The interviewer’s sense is that the reactions are well out of the
appropriate range for the topics discussed. Review of her medical record shows five emergency
department visits for “overdose” or “suicidal thoughts” within the last year. Her overdoses have
always been with small enough quantities of medication that she only required monitoring
without admission to an intensive care unit.
Ms. Hernandez’s thoughts, reactions, and behaviors align well with the
DSM-5 description of borderline personality disorder as “a pervasive
pattern of instability of interpersonal relationships, self-image, and affects,
and marked impulsivity, beginning by early adulthood and present in a
variety of contexts” (p. 663). Her life story fulfills at least five of the nine
criteria for the diagnosis. Ms. Hernandez reports experiences that meet
DSM-5 criteria for borderline personality disorder, including efforts to
avoid abandonment, intense interpersonal relationships, impulsivity,
suicidal gestures, affective instability, and inappropriate anger. The pattern
has been pervasive across multiple social spheres and clearly has negatively
affected Ms. Hernandez’s ability to live a complete, happy, and healthy life.
Ms. Hernandez reports a pattern of self-damaging impulses and
recurrent suicidal behaviors. Although she has not yet had a life-threatening
overdose, she is at risk for premature death. The fact that she has not yet
had a self-harm gesture resulting in serious health impairment or organ
damage by no means should reduce the clinician’s concern for grave
outcomes such as completed suicide. Impulsivity and danger should be
evaluated thoroughly in assessing a person with borderline personality
disorder. Although she has demonstrated these symptoms in an enduring
and pervasive pattern, the clinician must nevertheless make certain that
there is not another mental health condition or substance abuse issue that
better accounts for the pattern seen in the case.
Differential Diagnosis
Borderline personality disorder can manifest with a myriad of different
behaviors or symptoms. These must be distinguished from other mental
health issues that can also look similar. For example, the strong emotional
content of a borderline presentation can be mistaken for mood disorder
episodes. In an effort to describe their affective instability, intense anger, or
impulsivity, persons with borderline personality disorder may endorse
symptoms that sound consistent with major depressive episode or
manic/hypomanic episode. A diagnosis of bipolar disorder might be
incorrectly considered when a patient with borderline personality disorder
describes frequent, intense “highs and lows,” when in fact the emotional
states are often unstable and more a function of mood lability. Duration of
symptoms is a key element in determining episodic, pathological mood
states as in depression and bipolar disorder. Borderline personality disorder
tends to be characterized by chronic mood instability, whereas depression
and bipolar disorder are characterized by sustained episodes of mood
pathology (often with interepisode resolution of symptoms). The
differential diagnosis includes, in addition to mood disorders, other
personality disorders, personality change due to another medical condition,
substance use disorders, and identity problems.
Borderline personality disorder may co-occur with other mental
disorders or substance use disorders. Mood disorders, anxiety disorders, and
eating disorders are common comorbidities that must be recognized, but
each can also become a misdiagnosis when borderline personality disorder
better explains the presentation. The clinician should first establish that the
definition for general personality disorder has been met, and then should
systematically explore the specific criteria for borderline personality
disorder while also recognizing that other pathological phenomena, such as
eating disorder behaviors or substance abuse, may be present. In this
manner, it will be possible to determine whether a patient has additional
conditions that fulfill DSM-5 diagnoses. These additional diagnoses, when
present, should be noted.
Patients may also exhibit maladaptive coping strategies and behaviors
that look like borderline personality disorder only in specific stressful
situations, in which case the behaviors are not enduring and do not warrant
the diagnosis of borderline personality disorder.
See DSM-5 for additional disorders to consider in the differential
diagnosis. Also refer to the discussions of comorbidity and differential
diagnosis in their respective sections of DSM-5.
Summary
Borderline personality disorder is characterized by an enduring pattern of
emotional instability. Features of the disorder may include any of the
following:
IN-DEPTH DIAGNOSIS
Obsessive-Compulsive Personality Disorder
Mr. Upton, a 37-year-old man, presents with his wife to a mental health clinician for evaluation
in the context of having difficulties at work. He says that he believes that he is “fine” but that his
boss—and his wife, he adds reluctantly—may have a problem with his “neatness.” Mr. Upton
has missed opportunities for promotion at work because he has trouble completing tasks, even
though he is “the most conscientious worker there.” His wife reports that he is a “control freak.”
He is puzzled by his boss's attitude toward him. Mr. Upton states, “I’m a real perfectionist.
You would think a supervisor would like that!” Mr. Upton is inflexible about matters of morality
and ethics. He points out his opinion to coworkers routinely because they are often, he says, so
“woolly headed” about the basics of “right and wrong.”
Interviewing the couple reveals that Mr. Upton is very devoted to work activities to the
exclusion of leisure activities and family. He is very critical of his wife’s inability to maintain his
standard of neatness. He will come home from work and redo household cleaning tasks that his
wife completed earlier the same day. He scrutinizes their financial budget and has tried to restrict
his wife’s spending. He says that he wants to make sure they keep some money for “future
emergencies.”
He reports that he has “always been a stickler for the rules, even as a kid.” As a young child
he recalls having fits if someone else sat in his assigned seat at the dinner table. He was socially
unpopular in high school because he would report schoolmates for “tardiness.” His
overinvestment in rules has caused conflict in many social spheres from a very young age.
The interviewer, who believes that Mr. Fox has an enduring and
pervasive pattern of maladaptive personality disorder traits that are
consistent with DSM-5 criteria for obsessive-compulsive personality
disorder, is trying to distinguish Mr. Fox’s preoccupation with orderliness
around the CDs from an obsessive thought or a compulsion to act, which
would indicate possible obsessive-compulsive disorder (OCD). In this case,
it seems that the patient is describing an example of a preoccupation with
order. He has a particular system with rules that he wants for his CDs, and
he shows annoyance with violations of these rules. However, he does not
ruminate and worry excessively about the CD collection. He does not check
the CDs spontaneously. Furthermore, he does not experience anxiety when
they are out of order. He is just fixated on the orderliness of the collection
to the extent that he is willing to let it cause repeated arguments with his
wife.
Differential Diagnosis
Obsessive-compulsive personality disorder must be distinguished from
other mental disorders (e.g., OCD, hoarding disorder, substance use
disorders), other personality disorders and personality traits, and personality
change due to another medical condition.
OCD is usually easily distinguished from obsessive-compulsive
personality disorder by the presence of true obsessions and compulsions in
OCD. Descriptively, very often OCD is quite uncomfortable for the
individual (“ego-dystonic”) on an emotional level, whereas obsessive-
compulsive personality disorder is not necessarily evidently problematic for
the person (“ego-syntonic”). A person with obsessive-compulsive
personality disorder tends to be less aware of his or her rigidity and more
aware of the conflict that arises from it. When criteria for both disorders are
met, both diagnoses should be made.
Other anxiety states may bring out rigid, rules-oriented traits but should
not be confused with obsessive-compulsive personality disorder.
Other personality disorders may be confused with obsessive-compulsive
personality disorder because they have traits in common. Therefore, a
clinician needs to distinguish among these disorders by the differences in
their characteristic features. For example, narcissistic personality disorder
may also describe perfectionism and a belief that others cannot do things as
well; however, narcissism is usually distinguished by inflated self-
importance rather than rigid adherence to rules.
Obsessive-compulsive personality traits may be adaptive in certain
professional contexts or other situations that reward highly detail-oriented
performance. Furthermore, for an individual, the traits may exist only in a
context where the trait is adaptive, in which case the diagnosis should not
be made.
See DSM-5 for additional disorders to consider in the differential
diagnosis. Also refer to the discussions of comorbidity and differential
diagnosis in their respective sections of DSM-5.
Summary
Individuals who have obsessive-compulsive personality disorder
demonstrate an enduring pattern of preoccupation with orderliness, order,
and organization. Features of the disorder may include any of the following:
IN-DEPTH DIAGNOSIS
Schizotypal Personality Disorder
Ms. Katz, a 44-year-old single woman, presents with the chief complaint “I am so afraid.” She
reports anxiety stemming from serious concerns about the world ending with the end of the
Mayan calendar in 2012. She believes that the date was actually a miscalculation and that the
“true” date is in 2018. She has been interested in the predictions of “end times” from ancient
sources like the myths of the ancient Mayans and the predictions of Nostradamus. She shows the
psychiatrist Web sites that describe the Mayan prediction and possible scenarios for the end of
the world. She has “triangulated the data to demonstrate” that the world will end in 2018. “I
don’t know what is going to happen, but it will be bad,” she states.
Ms. Katz says that these fears are “really serious”—she states that she has severe symptoms
of anxiety to the extent that she has insomnia and worries about the end of the world. She reports
that she has taken precautions for the possibility of catastrophe, like taking self-defense classes
and stocking her shelves with water and canned foods. She is involved with a group that takes
these predictions seriously. The members of this group are her only major social contacts.
Outside this group she has very few social relationships other than first-degree relatives.
Ms. Katz is not shy about sharing her interest in other unusual topics, such as crop circles,
UFOs, and her belief that “aliens have probably visited Earth.”
She has a pattern of odd beliefs and fascinations with fantasy and science fiction since
childhood. She was awkward socially and had a very limited social group since adolescence. She
reports that she has never been married and has never had any serious romantic relationships.
She is oddly dressed, wearing a pin that says, “The end is near.”
Ms. Katz does not have auditory hallucinations. She does not endorse any frankly delusional
ideas. She is organized in her behavior. She has never had mood episodes of mania/hypomania
or depression.
The interviewer, who believes that Mr. Willis has an enduring and
pervasive pattern of maladaptive personality disorder traits that are
consistent with DSM-5 criteria for schizotypal personality disorder, wants
to find out if there is a more bizarre idea under the stated belief of the
patient. The interviewer is seeking to clarify if the unusual belief should be
thought of as a psychotic delusion. The clinician asks questions to see how
firm the belief is. In this case the belief is unusual, but Mr. Willis does not
hold this belief as absolutely fixed, as he would if it were a psychotic
delusion. Furthermore, he is not claiming to have had the experience of
time travel, an elaboration that may be present in someone with psychotic
symptoms; he simply believes that time travel is possible. It is more along
the lines of the odd beliefs seen in schizotypal personality disorder than it is
like a psychotic delusion.
IN-DEPTH DIAGNOSIS
Narcissistic Personality Disorder
Mr. Klein, a 68-year-old retired businessman, presents with concerns over interpersonal
conflicts. He wants to consult with a mental health professional to learn about the pathology of
his family and uncover why they are not treating him as he feels he should be treated. He feels
that he has been unjustly alienated from his family. He is twice divorced, describing his ex-wives
as “girls who were too simple to appreciate what they had in me.” He has become estranged
from his daughters and grandchildren over time because “they don’t give me the respect I
deserve in our visits.”
Further review of his history reveals a pattern of grandiosity and excessive need for
admiration. Mr. Klein describes grand stories of his business endeavors, name-dropping famous
businessmen such as Donald Trump and Bill Gates as peers. He continuously focuses on his
achievements in business and in social interactions. He demonstrates a lack of empathy for those
“beneath” him and identifies closely with celebrity businesspeople. From the interview, it is not
clear how successful he was in his career. It is clear that he ran into conflicts with superiors,
limiting his ability to be promoted. He claims that his bosses “were always jealous” of his talent
and never let him “get ahead.”
Mr. Klein describes the current problem between him and his family as the source of conflict
causing him irritability. He has refused to spend time with his daughters and grandchildren
because they don’t show him the “respect I deserve.” He was particularly annoyed that he had to
go to the daughters’ houses for visits. “They should come see me on my home turf instead.” He
announced to them that he no longer would travel to anyone’s house. For 3 years he has not seen
his daughters or his grandchildren. He gets invited to holidays and to the kids’ birthdays but
refuses to go unless they come to his house first.
Mr. Klein says, “If they want to see me, they know what they need to do.”
Mr. Klein meets DSM-5 criteria for general personality disorder, as well
as specific diagnostic criteria for narcissistic personality disorder. A sense
of confidence may be useful in the business world, but the pattern of
grandiosity seen in this case does not generate success in business or in
family life. His rigid rules around expectations for how he is to be treated
and respected have been poorly adaptive to achieve his desired goals.
Furthermore, there is a sense that other people involved in this man’s life
would have very different perspectives on the story.
Differential Diagnosis
Narcissistic personality disorder must be distinguished from mania or
hypomania, substance use disorders, and other personality disorders and
personality traits. Grandiosity often manifests as part of manic or
hypomanic episodes. The inflated sense of self that relates to bipolar
disorder should be present only in the context of a mood episode, whereas it
is an enduring trait of the personality disorder. Manic or hypomanic states
would not necessarily mimic other traits of narcissistic personality disorder.
Narcissistic personality disorder must also be distinguished from
symptoms that may develop in association with persistent or intermittent
substance use.
Other personality disorders may be confused with narcissistic
personality disorder because they have certain features in common. Other
Cluster B personality disorders (i.e., antisocial, borderline, and histrionic
personality disorders) may share the most overlap with narcissistic
personality disorder traits. Antisocial personality disorder shares the
characteristic lack of empathy and manipulation of others. The two
disorders are usually easily distinguished by the other symptoms in the
DSM-5 description. Antisocial personality disorder is usually characterized
by lack of regard and violation of the rights of others as evidenced by
aggressiveness, deceit, and lack of remorse, whereas the lack of empathy
seen in narcissistic personality disorder is usually a result of an inflated
self-ego.
Many highly successful individuals display personality traits that might
be considered narcissistic. Only when these traits are inflexible,
maladaptive, and persisting and cause significant functional impairment or
subjective distress do they warrant a diagnosis of narcissistic personality
disorder.
See DSM-5 for additional disorders to consider in the differential
diagnosis. Also refer to the discussions of comorbidity and differential
diagnosis in their respective sections of DSM-5.
Summary
Individuals who have narcissistic personality disorder may demonstrate an
enduring pattern of grandiose sense of self-importance. Features of the
disorder may include any of the following:
SUMMARY
Personality Disorders
To be diagnosed with any personality disorder, the person must first meet
the threshold criteria that define the presence of a general personality
disorder. Personality disorders are defined as enduring patterns of
experience and behavior that are pervasive across social situations and lead
to serious impairment in important areas of life function. The enduring
quality is a key to understanding the concept of the diagnosis because these
phenomena are related to personality traits that are generally consistent
throughout adulthood and are nonepisodic.
If the clinical case meets the description of general personality disorder,
a specific personality disorder diagnosis may be considered. Many
maladaptive personality traits may be observed in persons who never meet
general criteria for personality disorder and should not be classified with a
specific personality disorder. Maladaptive personality traits may occur in
isolation or only in specific situations, in which case they would not be
associated with a personality disorder diagnosis.
The concept of general personality disorder suggests that the
maladaptive patterns of experience and behavior are fixed into an
individual’s personality. This is why DSM-5 specifies that personality
disorders are of long duration and must be traceable to adolescence or early
adulthood. While it is possible to give a personality disorder diagnosis in a
person under age 18, personality disorder diagnoses are often deferred until
after age 18 because the clinician should identify these experiences and
behaviors in an already firmly established personality rather than a
developing personality.
Distinguishing personality disorders from other mental health
diagnoses, physiological effects of substances, or medical conditions is a
challenging necessity for any personality disorder diagnosis. This can be a
challenging step, given that individuals often present with multiple
conditions and states that must be taken into account.
Diagnostic Pearls
• Personality disorders are associated with maladaptive personality
traits.
• In personality disorder, the maladaptive traits must be enduring
over a long period of time (i.e., fixed in the personality) and
pervasive across many social situations; they are not episodic.
• The enduring and pervasive pattern of maladaptive experience and
behavior must lead to impaired function to be classified as a
personality disorder.
• Personality disorder traits can be traced to the development of
adult personality (adolescence or early adulthood).
• Specific personality disorder diagnoses can be made only if the
criteria for general personality disorder are met first.
• Personality disorders may be confused with other mental
disorders, substance abuse, or medical conditions. Understanding
the long-lasting patterns of behavior is essential to making a
correct diagnosis. This understanding usually involves knowing a
person long term and/or having a very extensive and complete
history.
Self-Assessment
Key Concepts: Double-Check Your Knowledge
What is the relevance of the following concepts to the various personality
disorders?
Case-Based Questions
PART A
Ms. Bailey, a 26-year-old single white woman, presents to the clinic with a pervasive pattern of
instability of interpersonal relationships, self-image, and affects, and marked impulsivity,
beginning by early adulthood and present in a variety of contexts. She has a prior diagnosis of
unspecified bipolar disorder. She does not report a history consistent with manic or hypomanic
episodes; however, she does report a mood history consistent with having had depressive
episodes. She also reports some very unusual and eccentric beliefs, but no frank delusions and no
auditory hallucinations.
Ms. Bailey’s presentation reveals anger outbursts and constant irritability. Identity
disturbance also seems to be a serious issue. She identifies closely with a small group of friends
in a club that plays a fantasy game. The few romantic relationships she has had have been with
members of this group and have been unstable and intense. She claims that her identity is closely
related to her character in the game (and to the fantasy club in general).
Ms. Bailey does not drink alcohol, but she does use hallucinogenic drugs fairly regularly
(once every few weeks). She says she does these drugs with her friends from the fantasy club.
She is odd in her dress.
What diagnosis can be made? With the information above, it seems clear
that the criteria for general personality disorder are met. Ms. Bailey seems
to have traits from the DSM-5 criteria for borderline personality disorder,
but the clinical picture is complicated by her odd beliefs and eccentricities.
She does not seem to meet symptom criteria for bipolar disorder.
PART B
When exploring Ms. Bailey’s fantasy interests more closely, the concept of schizotypal
personality disorder enters the thoughts of the clinician. The woman speaks of the fantasy club in
very vague terms, and she does not distinguish the members of the club from their characters in
the game. In fact, she refers to herself by the name of her character about half the time. When
asked about her unusual dress, she reports that this is typical dress “for an elf.” When
specifically asked, she reports that she does not think she is an elf, but her character in the club
is. She says that like her character, she has “special gifts for reading people.” When asked in
more detail, she reports that her character is clairvoyant and “to some extent, so am I.”
She reports that she believes that people outside of her fantasy club are untrust-worthy.
When she uses hallucinogenic drugs, she reports that she “enters the real kingdom” (referring
to her fantasy game). But she goes on to say, “That only happens when I trip.”
Answers
1. No. Borderline personality disorder is not diagnosed when the criteria
that are met occur in the context of a hypomanic episode.
2. No. The features of a personality disorder must cause distress or
dysfunction.
3. Borderline personality disorder is the personality disorder most
associated with self-harm behaviors.
4. Obsessions and compulsions occur in OCD but not in obsessive-
compulsive personality disorder.
5. Cultural norms should be taken into account before using a technical
term like “magical thinking.” If the phenomenon is consistent with
widely held systems of belief in the person’s culture, it should not be
considered pathological.
6. Yes. A 17-year-old can be diagnosed with a personality disorder if the
features have been present for at least 1 year—with the exception of
antisocial personality disorder, for which an individual must be at
least age 18 to receive this diagnosis.
7. No. A personality disorder is not necessarily a lifelong or permanent
condition, although when a personality disorder is present, it must
have emerged early in life.
8. Yes. Personality disorders can be diagnosed cross-culturally.
9. Females have a higher prevalence of borderline personality disorder.
10. In the differential diagnosis for schizotypal personality disorder are
other mental disorders with psychotic symptoms, neurodevelopmental
disorders, personality change due to another medical condition,
substance use disorders, and other personality disorders and
personality traits.
22
Paraphilic Disorders
Richard Balon, M.D.
IN-DEPTH DIAGNOSIS
Exhibitionistic Disorder
Mr. Ward, a 25-year-old man, was referred for an evaluation by the court. He was arrested by the
police after he exposed himself to a female fast-food restaurant worker. While the woman was
handing him his order in his car at the drive-thru window, he exposed his genitalia. After the
woman started to scream, he drove away. The woman was able to get his license plate number
and contacted police immediately. He was arrested about a mile away while still masturbating in
the car. During the interview he reveals that he has been exposing his genitalia to unsuspecting
females for several years. Mr. Ward likes to expose himself to women with “big breasts, if
possible.” He has exposed himself several times to women at drive-thru restaurants or to women
passing by his car in parking lots. Exposing himself to unsuspecting women and subsequently
masturbating has been his preferred sexual activity, although he had a girlfriend with whom he
was sexually active. Mr. Ward occasionally masturbates while imagining exposing himself to
female movie stars. At times, he cannot control his urge to expose himself and drives “around to
see where I can do it.” He has been very nervous lately because “I have almost been caught by
police several times, but I cannot stop myself. It is hopeless.” He denies any other unusual sexual
behavior. He works part-time and lives by himself. He occasionally has contact with his parents
and rarely with coworkers.
Differential Diagnosis
The differential diagnosis of exhibitionistic disorder is relatively narrow
because the description of the paraphilic behavior is specific—exposing
one’s genitalia to unsuspecting strangers. This behavior may occur strictly
within exhibitionistic behavior or within the frame of several co-occurring
paraphilic disorders (e.g., voyeuristic disorder, fetishistic disorder). The
exposure of genitals may also occur in psychosis (where the exposure
would probably be more nondiscriminatory), conduct disorder, antisocial
personality disorder, and substance use disorders (especially during
intoxication). The exhibitionistic disorder should also be distinguished from
nudism—individuals with exhibitionistic disorder usually do not expose
themselves at nudist places.
The course of the disorder likely varies with age and little is known
about persistence over time when it emerges in adolescence or early
adulthood. Advancing age may be associated with decreasing
exhibitionistic sexual preferences and behavior. Depression and substance
use may develop as a consequence of exhibitionistic disorder and then
affect the clinical presentation. Denial or minimization of the behavior
could hinder the differential diagnosis.
See DSM-5 for additional disorders to consider in the differential
diagnosis. Also refer to the discussions of comorbidity and differential
diagnosis in their respective sections of DSM-5.
Summary
• Exhibitionistic disorder involves recurrent and intense sexual arousal
from the fantasies, urges, or behavior of exposing one’s genitalia to
nonconsenting, unsuspecting strangers.
• In the context of an intense exhibitionistic sexual interest, the diagnosis
of exhibitionistic disorder can be made if the individual has exposed his
or her genitalia to a nonconsenting person, or when the individual has
distress or impairment in various areas of functioning because of the
exhibitionistic urges or fantasies.
• Careful history should help to rule out other mental disorders (e.g.,
psychotic disorder, substance use disorder, personality disorder) and
other paraphilic disorders.
IN-DEPTH DIAGNOSIS
Pedophilic Disorder
Mr. Flynn, a 50-year-old businessman, reports being attracted to “little girls, when they barely
have any breasts and have no body hair. Their bodies enormously arouse me.” He says that he
has always been sexually attracted to female children. His first sexual encounter around age 16
was with a “neighbor’s girl. She was about 9. She excited me, unlike my classmates.” He started
to touch her and then undressed them both and fondled her genitalia, although “she was pushing
me away.” He then masturbated in front of her. He adds that when both their parents found out,
his parents punished him, but the “whole thing was swept under the rug. Everybody said that
kids are curious and like to play.” He states that although he has had sexual intercourse with
adult women and is married, he has always been much more excited by “those little girls.” He
regularly masturbates while viewing child pornography. He has had sex with female children
around the country. “You know, in some cities, you can get a little girl easily.” He has also
traveled to other countries to have sex with girls because “it is quite easy to get girls in some
countries. Their families offer them for almost nothing.” He has spent all his money on travel to
“get girls” and on child pornography. His wife divorced him when she found him masturbating
using child pornography. He has no friends because “nobody would understand me.” He has the
urge to look at “pictures” at work and is afraid that he will be fired, should he follow the impulse
and be discovered.
Mr. Flynn has always been aroused by prepubescent girls. His parents
and others considered his first sexual encounter with a girl child’s play or an
act of curiosity. It is difficult to establish a firm sexual interest during
adolescence because many children and young adolescents are curious
about seeing other children naked, but they lose their curiosity during
puberty. This man has remained sexually aroused by prepubescent girls as
an adult and clearly prefers sex with prepubescent girls over sex with adult
females. He has acted on his fantasies and urges, either masturbating while
watching child pornography or having sex with prepubescent girls. He does
not seem to be distressed by his attraction (some individuals with
pedophilic disorder are not distressed by and do not feel guilty about what
they consider to be a sexual “preference”). Mr. Flynn’s pedophilia (sexual
attraction to prepubescent girls, acting out on his fantasies and preferences)
has caused a significant impairment in his social functioning (divorce, no
friends), in his work setting, and probably in personal finances (spending
substantial money on child pornography and travel for sex). As sexual
arousal decreases with age, it is possible that his pedophilic activities and
their frequency may decrease.
Differential Diagnosis
The differential diagnosis of pedophilic disorder includes other paraphilic
disorders (e.g., sexual sadism disorder, voyeuristic disorder), antisocial
personality disorder, substance use disorders, neurocognitive disorders,
obsessive-compulsive disorder, intellectual disability (intellectual
developmental disorder), and brain injury. The distinction between
pedophilic disorder and other paraphilic disorders should focus on the
object of arousal (children) and character of sexual behavior (sexual
intercourse, masturbation). Individuals with pedophilic disorder may also
be diagnosed with antisocial personality disorder; however, personality
disorder does not explain pedophilic disorder and should not supplant it.
Individuals with substance use disorders may get involved in sex with
children while intoxicated, but their pedophilic activity usually occurs
during intoxication only and does not have chronic character. Individuals
with neurocognitive disorders may fondle children, but this behavior
develops uncharacteristically in older age and within the context of
neurocognitive impairment. Obsessive-compulsive disorder may include
obsessions involving sex with children, but individuals with obsessive-
compulsive disorder do not act on those urges. Individuals with intellectual
disability may get sexually involved with children, and the evaluation of the
adaptive functioning and determination of IQ will be helpful in the
differential diagnosis in such cases. The time frame should be considered in
pedophilic behavior that developed after a brain injury.
Individuals with pedophilic disorder may have comorbid anxiety,
depression, substance use disorder, or personality disorder. These disorders
may affect the presentation of pedophilic disorder—for example, depression
may be associated with profound feelings of guilt not necessarily about the
pedophilic disorder. The pedophilic behavior may get more disinhibited in
individuals with substance use disorders, especially during intoxication.
The comorbid antisocial personality disorder psychopathology may also
affect the presentation of pedophilic disorder, in terms of a lack of distress
or impairment in various areas of functioning.
See DSM-5 for additional disorders to consider in the differential
diagnosis. Also refer to the discussions of comorbidity and differential
diagnosis in their respective sections of DSM-5.
Summary
• The defining feature of pedophilic disorder is intense sexual arousal
from fantasies, urges, and behaviors involving sexual activity with
prepubescent children.
• To meet the criteria of pedophilic disorder, the individual must act on
these sexual urges; or the urges or fantasies cause marked distress or
interpersonal difficulty.
• The individual with pedophilic disorder should be at least age 16 and at
least 5 years older than the child or children for whom he or she feels
sexually aroused.
• Pedophilic disorder occurs predominantly in males, but the disorder has
been reported in females.
• Pedophilic preference, age difference between the individual and child,
and acting on the preference—or experiencing distress or interpersonal
difficulty resulting from the sexual urges and fantasies—all must be
present to make the diagnosis of pedophilic disorder.
• Careful history should help to differentiate pedophilic disorder from
other mental disorders and other paraphilic disorders.
IN-DEPTH DIAGNOSIS
Fetishistic Disorder
Mr. Griffith, a 30-year-old man, reports being ashamed and stressed out about “my sexual
practices.” Since he became sexually active over 10 years ago, he has been extremely aroused by
holding his partners’ “used panties and smelling them while having sex or while masturbating.”
He also asks his partners to cut a substantial piece of their hair, which he uses to play with while
masturbating or puts over his partner’s face during sex. Mr. Griffith says that he has had sex or
masturbated without these objects, but “it is not the same and I am not even able to come without
them at times.” He adds that alternatively, when he has everything “together,” “the sex could be
pretty amazing, I get very aroused.” He was not originally distressed by using fetishes. However,
because several of his girlfriends were turned off by his practices and called him “a pervert,” he
started to wonder whether he “was normal.” He began to feel more guilty that “I am not able to
have sex without bothering my girlfriend with those panties and hair.” His current girlfriend has
flatly refused to let him cut her hair and use her panties during sex. She has threatened to leave
him unless he stops this behavior.
Differential Diagnosis
The differential diagnosis of fetishistic disorder is relatively narrow.
Fetishistic disorder should be distinguished from other paraphilias, namely
transvestic disorder (sexual arousal derived from using a fetish vs. sexual
arousal derived from cross-dressing—in both cases, female undergarments
may be used) and sexual masochism disorder (sexual arousal derived from
using fetishes to touch, smell, or hold oneself vs. sexual arousal derived
from the sexual partner using various objects to slap, hit, or bind the
individual). Fetishistic disorder may co-occur with other paraphilic
disorders. The distinction between fetishistic and transvestic disorder could
be difficult at times because their phenomenology is similar; however, this
differential diagnosis is fairly straightforward—in transvestic disorder, the
articles of clothing are worn exclusively during cross-dressing. Fetishistic
disorder is not diagnosed when the object used is genitally stimulating
because it was designed for that purpose (e.g., a vibrator).
Some individuals may use fetishes (e.g., licking partner’s toes; wearing
leather boots) during foreplay or sexual activity and not be distressed about
it—this behavior should be categorized as fetishistic behavior without
fetishistic disorder. Fetishistic disorder may also occur in individuals with
other mental disorders, such as personality disorders, mood disorders, and
impulse-control disorders.
Fetishistic disorder occurs mostly in males and the course of the
disorder is chronic. Depression and substance use may develop as a
consequence of fetishistic disorder and then affect the clinical presentation.
Sexual dysfunction may develop during the times when fetishes are not
available. Denial or minimization of the behavior could hinder the
differential diagnosis. Occasionally, an injury may occur when a fetish is
inserted or when fetishistic behavior such as sucking gets extreme or
switches to more harmful behavior such as biting.
See DSM-5 for additional disorders to consider in the differential
diagnosis. Also refer to the discussions of comorbidity and differential
diagnosis in their respective sections of DSM-5.
Summary
• The hallmark of fetishistic disorder is the use of nonliving objects (e.g.,
undergarments) or nongenital body parts (e.g., partner’s feet, toe, hair)
to get sexually aroused.
• Establishing the use of fetishes for sexual arousal allows confirmation
of the presence of fetishism, not fetishistic disorder.
• Distress over the fantasies, urges, or behavior—or impairment in
various areas of functioning—is necessary for establishing the
diagnosis of fetishistic disorder.
• Careful history should help to rule out other mental disorders (e.g.,
psychotic disorder, substance use disorder, personality disorder,
impulse-control disorder) and other paraphilic disorders, such as
transvestic disorder and sexual masochism disorder.
SUMMARY
Paraphilic Disorders
Paraphilic disorders are rare in routine practice. The diagnostic class
includes disorders with sexual interest and behavior characterized by
intense and persistent fantasies, interests, or behaviors beyond what is
considered a normophilic sexual interest and/or behavior. Examples of
paraphilic behaviors include being sexually aroused by any of the
following: watching a nonconsenting person who is naked, disrobing, or
having sex; exposing one’s genitals to nonconsenting strangers; rubbing or
touching a nonconsenting person; being humiliated, beaten, or otherwise
made to suffer; causing the physical or psychological suffering of another
person; having sexual activity with prepubescent or pubescent children;
using a nonliving object or nongenital body part during sexual intercourse
or masturbation; and cross-dressing. Some sexual interests and behaviors
may be relatively harmless (e.g., fetishism, transvestism) and at times they
do not distress individuals; in those cases, only paraphilia is identified and
paraphilic disorder is not diagnosed. The origin or basis of paraphilic
behavior or disorder is unknown.
Paraphilic disorders occur almost exclusively in males (with the
exception of sexual masochism disorder), for unclear reasons. Paraphilic
disorders usually develop during late childhood or puberty/adolescence and
have a chronic, lifelong course.
Diagnostic Pearls
• The diagnostic class of paraphilic disorders includes intense or
persistent sexual interest or behavior that is not conventionally
considered normal sexual interest or behavior.
• The diagnosis of paraphilic disorder is made if the individual with
the non-normative sexual behavior (e.g., fetishism, cross-dressing)
describes being distressed by his or her behavior or having
impairment in various areas of functioning due to the behavior.
• In the absence of distress or impairment regarding the paraphilia,
if the individual has acted on the sexual urges with children
(pedophilic disorder) or nonconsenting persons (exhibitionistic
disorder, frotteuristic disorder, or sexual sadism disorder),
diagnosis of the paraphilic disorder applies.
• The delineation of the paraphilic urges, fantasies, and behaviors as
“intense” and “persistent” may be difficult in some cases and
should then be defined as paraphilic only if greater or equal to
normophilic sexual interest and behavior.
• The urges, fantasies, and/or behaviors should occur over a period
of at least 6 months.
• Most paraphilic disorders occur almost exclusively in males, with
sexual masochism disorder being an exception.
• Although paraphilic preferences may persist to the end of an
individual’s life, it is believed that paraphilic expressions or
performances of paraphilic behavior decrease with age.
• Paraphilic disorders may overlap with other disorders within the
diagnostic class (e.g., fetishistic disorder and sexual masochism
disorder) or may be comorbid with other mental disorders (e.g.,
depressive disorders, substance use disorders, personality
disorders).
Self-Assessment
• Normophilic behavior
• Sexual fantasies, urges, and behaviors
• Sexual preferences for object of behavior (fetish, nonconsenting
stranger)
• Marked distress over sexual preferences or behavior
• Recurrence of fantasies, urges, and behaviors
• Exposure of genitals
• Fetish—nonliving object, nongenital body part
• Age difference between perpetrator and child in pedophilic disorder
• Role of a controlled environment
Case-Based Questions
PART A
Mr. Foster, a 20-year-old man, reports that he is a bit uneasy about being fixated on his need to
have his sexual partners (of both sexes) wear a special tight leather garter belt, “otherwise I don’t
really get excited. But some of my previous partners got really upset with me and refused to
wear it.”
What diagnosis would you consider for Mr. Foster’s behavior at this
point? He seems to have fetishism because he gets really aroused only
when his partner wears a specific piece of clothing. He requires both males
and females to wear it, but because he does not wear it, it is not related to
cross-dressing. He seems to be uneasy about his demand. The existence of
distress and the duration of 6 months need to be explored to establish the
diagnosis of fetishistic disorder.
PART B
Upon further questioning, Mr. Foster also states that he is sexually attracted to boys and girls and
he does not get excited thinking about having sex with adults. He says that he prefers sex with
both boys and girls “a few years younger than I am, when they have some pubic hair, but no
body hair, their skin is soft, girls’ breasts are just budding.” He has had sex with several boys
and girls looking like that. “They really arouse me.”
Short-Answer Questions
1. How long must any paraphilic fantasies, urges, or behaviors last to meet
the diagnostic criteria for paraphilic disorder?
2. What is the difference between paraphilia and paraphilic disorder?
3. What is the usual age/time period of onset of paraphilic disorders?
4. What are the usual fetishes?
5. In which gender does paraphilia almost exclusively occur?
6. What are some examples of paraphilias/other specified paraphilic
disorders?
7. What personality disorder must be considered in the differential
diagnosis of pedophilic disorder?
8. What is the minimal age difference between the individual with
pedophilic disorder and his or her victim?
9. Why was the specifier “in a controlled environment” included in the
diagnostic criteria of most paraphilic disorders?
10. Can substance use modify paraphilic behavior? Can paraphilic behavior
appear during substance use and during intoxication?
Answers
1. Any paraphilic fantasies, urges, or behaviors must last 6 months to
meet the diagnostic criteria for paraphilic disorder.
2. The diagnosis of paraphilic disorder includes the paraphilia and the
distress or impairment caused by the paraphilia. In the absence of
distress or impairment regarding the paraphilia, if the individual has
acted on the sexual urges with children (pedophilic disorder) or
nonconsenting persons (exhibitionistic disorder, frotteuristic disorder,
or sexual sadism disorder), diagnosis of the paraphilic disorder
applies.
3. Childhood through puberty or adolescence is the usual age/time
period of onset of paraphilic disorders.
4. The usual fetishes are nonliving objects (e.g., undergarments) and
nongenital body parts (e.g., feet).
5. Paraphilia almost exclusively occurs in males.
6. Some examples of paraphilias/other specified paraphilic disorders
include acrotomophilia/acrotomophilic disorder,
necrophilia/necrophilic disorder, telephone scatologia/telephone
scatophilic disorder, and zoophilia/zoophilic disorder.
7. Antisocial personality disorder must be considered in the differential
diagnosis of pedophilic disorder.
8. Five years is the minimal age difference between the individual with
pedophilic disorder and his or her victim.
9. It may be more difficult to objectively assess an individual’s
propensity to act on paraphilic urges when the individual has no
opportunity to act on those urges (e.g., because of being in a
controlled environment, such as prison).
10. Yes. Substance use can modify paraphilic behavior, and paraphilic
behavior can appear during substance use and during intoxication.
PART III
Test Yourself
QUESTIONS
A. Dysarthria.
B. Echolalia.
C. Echopraxia.
D. Word salad.
A. Bipolar I disorder.
B. Schizoaffective disorder.
C. Schizophrenia.
D. Schizotypal personality disorder.
5. Match each mental disorder with the most accurate statement regarding
prevalence by gender (each item may be used once, more than once, or
not at all):
A. Adjustment disorder.
B. Generalized anxiety disorder.
C. Major depressive disorder.
D. Obsessive-compulsive disorder.
A. 1 week.
B. 1 month.
C. 6 months.
D. 1 year.
A. Delusion.
B. Hallucination.
C. Ideas of reference.
D. Illusion.
12. A 40-year-old woman sees a psychiatrist for the first time. She
complains of having had low energy and fatigue for the past year and
endorses additional symptoms of depressed mood, poor sleep, and
decreased concentration. She exhibits significant psychomotor
retardation on exam. She denies any suicidal ideation or
hallucinations. She takes medication for hypothyroidism but has not
seen a primary care doctor in over 10 years. Her thyroid-stimulating
hormone level is 7.6, and her urine toxicology screen is negative.
What is the likely diagnosis?
A. Bipolar II disorder.
B. Depressive disorder due to another medical condition.
C. Insomnia disorder.
D. Major depressive disorder.
14. Match each mental disorder with the age at onset noted in the
diagnostic criteria:
A. Adjustment disorder.
B. Akathisia.
C. Parkinson’s disease.
D. Restless legs syndrome.
A. Obsessive-compulsive disorder.
B. Obsessive-compulsive personality disorder.
C. Schizophrenia.
D. Specific phobia.
A. Bipolar I disorder.
B. Bipolar II disorder.
C. Schizophrenia.
D. Substance/medication-induced bipolar and related disorder.
A. Adjustment disorder.
B. Anorexia nervosa.
C. Major depressive disorder.
D. Somatic symptom disorder, with predominant pain.
A. Agoraphobia.
B. Anxiety disorder due to another medical condition.
C. Generalized anxiety disorder.
D. Social anxiety disorder (social phobia).
32. Match each description with the sexual dysfunction diagnosis for
which it is most highly characteristic (each disorder may be used once,
more than once, or not at all):
A. Erectile disorder.
B. Female orgasmic disorder.
C. Genito-pelvic pain/penetration disorder.
D. Premature (early) ejaculation.
A. She has auditory hallucinations that are present only in the context
of her mood symptoms.
B. She has had one manic episode.
C. She has been hearing voices for weeks without depressed or
elevated mood.
D. She has heard similar voices before when she was depressed.
A. Adjustment disorder.
B. Borderline personality disorder.
C. Dependent personality disorder.
D. Histrionic personality disorder.
A. Erectile disorder.
B. Fetishistic disorder.
C. Gender dysphoria in adolescents and adults.
D. Transvestic disorder.
41. Match each term with the correct definition (each term may be used
once, more than once, or not at all):
A. Compulsion.
B. Obsession.
C. Phobia.
D. Somatization.
42. A primary care doctor refers a 46-year-old woman with many physical
complaints for psychological assessment after extensive medical
testing reveals no evidence of physical issues. The psychologist learns
that the patient has an extensive history of bodily complaints without
medical basis. Her physical symptoms have been multisystemic and
do not resemble the constellation of symptoms associated with
specific medical illnesses. The referring doctor also reports that the
patient has frustrated many primary care doctors in the past and has
transitioned from one to another. The patient expresses her distress to
the psychologist. She says, “None of this is in my head. It is real. I
have talked to so many doctors and those doctors just can’t figure it
out. I have no answers, and I feel worse and worse.” What is the likely
diagnosis?
A. Adjustment disorder.
B. Anorexia nervosa.
C. Depersonalization/derealization disorder.
D. Gender dysphoria in adolescents and adults.
A. Cryptococcal meningitis.
B. Major depressive disorder.
C. Mild neurocognitive disorder due to HIV infection.
D. Vitamin B12 deficiency.
48. A 5-year-old child believes that his thoughts, words, and actions cause
specific outcomes in nature, and these outcomes defy what are the
commonly understood laws of cause and effect. What is this
phenomenon called?
A. Grandiosity.
B. Hallucination.
C. Illusion.
D. Magical thinking.
49. A man brings his 36-year-old wife to a new primary care doctor
because she has lost patches of her hair recently. He notes that her last
doctor sent her to a dermatologist, who felt that an underlying skin
condition was unlikely. In a private exam room without her husband
present, she says that she secretly pulls out her hair in clumps to
relieve tension. The act of pulling her hair brings her relief. She denies
changes in mood, sleep, concentration, or energy level. What is the
likely diagnosis?
A. Bipolar I disorder.
B. Cocaine intoxication, without perceptual disturbances.
C. Cocaine withdrawal.
D. Moderate cocaine use disorder.
51. Match each description with the appropriate phrase (each item may be
used once, more than once, or not at all):
53. Match each term with the correct definition (each term may be used
once, more than once, or not at all):
A. Anhedonia.
B. Anorexia.
C. Cataplexy.
D. Catatonia.
A. Adjustment disorder.
B. Generalized anxiety disorder.
C. Major depressive disorder.
D. Uncomplicated bereavement.
55. A 12-year-old girl is getting along poorly with her parents and
teachers. She is highly argumentative and defiant at home. She has
attempted to embarrass her teacher in front of the other students and
uses profane language. She never seems to take responsibility for the
hostility that appears to be present in many of her social interactions.
Due to her constant “negativity” with her teachers, other students have
begun to keep their distance from her. In the past 5 years, the girl’s
parents have gotten divorced. Her mother then remarried, but that
marriage ended in a rapid divorce. The girl is cooperative in
responding to questions during the psychiatric interview. What is the
likely diagnosis?
56. Which of the following has been eliminated from the criteria for the
diagnosis of schizophrenia in DSM-5 in comparison with earlier
versions of DSM?
58. On which of the following diagnostic frameworks are the DSM-5 and
ICD classification systems based?
A. Binary.
B. Categorical.
C. Fuzzy.
D. Probabilistic.
A. Adjustment disorder.
B. Generalized anxiety disorder.
C. Posttraumatic stress disorder.
D. Psychological factors affecting other medical condition.
A. Delusional disorder.
B. Generalized anxiety disorder.
C. Hoarding disorder.
D. Obsessive-compulsive personality disorder.
A. Delirium.
B. Intermittent explosive disorder.
C. Major neurocognitive disorder due to Alzheimer’s disease.
D. Major neurocognitive disorder with Lewy bodies.
A. Alcohol withdrawal.
B. Factitious disorder.
C. Opioid intoxication.
D. Opioid withdrawal.
A. Bipolar I disorder.
B. Delusional disorder.
C. Kleptomania.
D. Obsessive-compulsive disorder.
65. A man brings his 35-year-old wife, who has a history of previous
psychiatric hospitalizations, to the emergency department because of
her unusual behavior. He states that she just spent $3,000 on a
shopping spree. She speaks animatedly and loudly: “I just
remembered all these things I wanted to buy!” She looks down at her
hand and says, “I need this ring on my finger for good luck.” She has
been sleeping 5 hours per night, and her days are “packed with events,
booked from morning to evening!” She describes her mood as
“stressed” and her affect is labile. Her mental status examination is
notable for a slender, well-groomed woman with meticulous makeup
and good eye contact. She is cooperative on interview, but is difficult
to interrupt. Her thought process is occasionally tangential, and her
speech is fluent, with rapid rate. She denies any hallucinations. There
is no evidence of psychomotor abnormalities or neurological deficits.
Her urine toxicology screen is negative for illicit substances. What is
the likely diagnosis?
A. Bipolar I disorder.
B. Borderline personality disorder.
C. Obsessive-compulsive disorder.
D. Schizophrenia.
A. Blunt.
B. Depressed.
C. Inappropriate.
D. Labile.
A. Attention-deficit/hyperactivity disorder.
B. Autism spectrum disorder.
C. Global developmental delay.
D. Specific learning disorder.
A. Childhood.
B. Late life.
C. Middle age.
D. Puberty.
69. A mother who recently moved to a new area brings her 6-year-old son
for evaluation by a pediatrician. She worries that he is having diarrhea
because she finds stool stains on his underwear. She is not sure how
often he goes to the bathroom or the nature of his stools because for
many years she has worked two to three jobs and has had to leave him
in day care centers. On exam, he is shy and avoidant of social
interaction but appears to have no developmental delay with respect to
cognition and language. The pediatrician notes a hard golf ball–sized
structure on the patient’s left abdomen on deep palpation. What is the
likely diagnosis?
A. Conduct disorder.
B. Encopresis.
C. Enuresis.
D. Mental retardation.
A. Bipolar I disorder.
B. Dissociative identity disorder.
C. Major depressive disorder with psychotic features.
D. Schizophrenia.
75. A wife brings her husband, a 55-year-old man who has chronic
conditions of diabetes, obesity, and hypercholesterolemia, to his
primary care doctor. She is upset that her husband has no energy to go
on outings with her and that he is always tired; she says that even
though he would like to do things with the family, he consistently
declines to do so. She gave him her own prescription for sleeping
medication (“I know I should not do that! I was just hoping it would
help us!”), but all that she noticed afterwards is that he snored “more
than usual.” She is worried about the well-being of their marriage,
given her husband’s changes. The man notes that he is interested in
life, their marriage, going out to dinner, and so on, but he does not
know why he feels so exhausted. What is the likely diagnosis?
A. Adjustment disorder.
B. Anorexia.
C. Major depressive disorder.
D. Obstructive sleep apnea hypopnea.
76. A woman brings her 73-year-old father to the hospital because she is
extremely concerned that he has virtually no memory of the day’s
events. He cannot recall where he has been or what he has done.
Which additional piece of information would be more consistent with
a diagnosis of dissociative amnesia than neurocognitive disorders?
77. What term best describes a person’s mental status when he or she is
responsive to external stimuli but is unable to stay awake?
A. Agitated.
B. Comatose.
C. Delirious.
D. Lethargic.
80. Police arrest a 21-year-old man for arson, and a psychiatrist evaluates
him in jail. On interview, the man describes having had an intense
fascination with fire since his teenage years. He feels excited
whenever he lights matches and enjoys watching the flames “dance”
before him. He denies a history of unstable relationships, getting into
fights, or deceiving others. He denies any suicidal or homicidal
ideation, attempts, or gestures. His record shows no other legal
charges besides arson. He denies hallucinations or unstable mood, and
his thought process is linear. What is the likely diagnosis?
81. For which of the following DSM-5 diagnoses is there a far greater
prevalence in men than women?
A. Depersonalization/derealization disorder.
B. Exhibitionistic disorder.
C. Major depressive disorder.
D. Narcolepsy.
A. Adjustment disorder.
B. Alcohol intoxication.
C. Alcohol use disorder.
D. Alcohol withdrawal.
85. Women account for more than 90% of the diagnoses for which of the
following disorders?
A. Bulimia nervosa.
B. Major depressive disorder.
C. Obsessive-compulsive disorder.
D. Schizophrenia.
86. A mother brings her 11-year-old daughter for assessment. The girl’s
teachers are uncertain whether she should advance to the next grade
level. She enjoys doing math problems and is always enthusiastic
when doing experiments in the science lab. However, in English and
history class, she seems like a very different student. She sits in the
back of the classroom, looking distracted, and avoids reading out loud
when asked. When she does read aloud, her reading lacks fluidity and
is often peppered with inaccuracies. Her reading comprehension test
results show that she is well below grade-level expectation. She does
not make spelling mistakes in her homework assignments. What is the
likely diagnosis?
87. DSM-5 assigned to new diagnostic classes some diagnoses that DSM-
IV included in disorders usually first diagnosed in infancy, childhood,
or adolescence. Which of the following statements is correct regarding
these changes?
88. Each week a 52-year-old woman bakes bread using the recipe and
techniques taught to her by her grandmother. She describes this
behavior as an important “ritual” in her life. When does this behavior
become a symptom that would appropriately be considered a part of a
diagnostic assessment?
A. Anorexia.
B. Body dysmorphic disorder.
C. Posttraumatic stress disorder.
D. Somatic symptom disorder.
91. A mother reports that her son, who is now in first grade, has not
seemed to fit in with his classmates since he was in kindergarten. He
has a difficult time fully engaging in conversations with them. Instead,
he seems to talk “at” them. For example, in a monotone voice he
persistently shares elaborate and detailed information about his
favorite subject, classic cars, even when the other children are very
disinterested. Although this child met all motor milestones
appropriately, he often exhibits a repetitive behavior of stacking his
cars in a line. He does not have auditory problems. What is the likely
diagnosis?
A. Encopresis.
B. Enuresis, diurnal only.
C. Enuresis, nocturnal and diurnal.
D. Enuresis, nocturnal only.
93. Police arrest a 26-year-old man for smashing the windows of a
coworker’s car after an argument at work. The man’s wife says that he
has a history of destroying property or items of value when provoked,
in a manner that is “extreme” as compared to the magnitude of the
inciting trigger or event. He denies any history of head trauma,
difficulty with attention, depressed or labile mood, restlessness, or any
problems with sleep or appetite. When he is not provoked, he is calm
and pleasant. He denies any alcohol or substance use, and his wife
corroborates this information. There is no evidence of fidgeting or
psychomotor agitation on exam. What is the likely diagnosis?
A. Attention-deficit/hyperactivity disorder.
B. Bipolar I disorder.
C. Intermittent explosive disorder.
D. Panic disorder.
A. Delirium.
B. Major neurocognitive disorder due to Alzheimer’s disease.
C. Major neurocognitive disorder due to another medical condition.
D. Major vascular neurocognitive disorder.
95. Match each description with the paraphilic disorder for which it is
most highly characteristic (each disorder may be used once, more than
once, or not at all):
A. Exhibitionistic disorder.
B. Fetishistic disorder.
C. Pedophilic disorder.
D. Sexual sadism disorder.
E. Voyeuristic disorder.
96. A 34-month-old boy rarely initiates eye contact with his mother and
does not seem to engage in play with other children in his peer group
at day care. At times, he behaves aggressively toward the other
children. He is only minimally communicative with speech but, when
vocal, is prone to repetitively use only single words. He gets very
upset when his mother varies his morning clothing routine, always
insisting, for example, that she put on his right sock first, before any
other piece of clothing. What is the likely diagnosis?
98. A mother has learned during a conference with her 6-year-old son’s
teacher that her son tends to blurt out answers when students are asked
to raise their hands. Also, he often intrudes on other children’s
activities during playtime, which has caused some disputes with his
classmates. The mother notes that he often forgets to bring home his
schoolwork. In addition, he often willingly starts a chore around the
house, such as cleaning his room, but often switches to another
activity and fails to finish the original task. What is the likely
diagnosis?
A. Attention-deficit/hyperactivity disorder.
B. Obsessive-compulsive disorder.
C. Oppositional defiant disorder.
D. Tourette’s disorder.
99. Match each description with the personality disorder for which it is
most highly characteristic (each disorder may be used once, more than
once, or not at all):
100. Match each term with the correct definition (each term may be used
once, more than once, or not at all):
A. Agnosia.
B. Anhedonia.
C. Aphasia.
D. Apraxia.
102. A young girl is in second grade. Last year her paternal grandfather
died from cancer. Since then her parents have become increasingly
concerned about her. Last week a babysitter said that the girl sat
staring at the front door almost the entire night, waiting for her
parents to return from their date night. Their daughter keeps asking to
stay home from school. She pleads for her mother to stay home with
her, stating, “I do not want you to drive to work. What if you get in an
accident? Just stay home with me.” Before she goes to bed at night,
she complains of headaches, which only seem to subside if she sleeps
in her parents’ room. They have stopped allowing her to sleep in their
room, but some mornings they find her sleeping in the hallway right
outside their bedroom door. She refuses to attend sleepovers with
friends because she always feels “sick” while she is there. What is the
likely diagnosis?
A. Depressive episode.
B. Head injury.
C. Manic episode.
D. Psychological trauma.
105. Police bring a woman to the hospital after they find her in an alley
behind a restaurant. She appears to be in her late 20s. She cannot say
who she is or where she lives. When asked what she was doing
earlier, she recounts a reasonable story about having dinner at a
restaurant and then having a few drinks. However, she looks worn, as
though she has been living on the streets and exposed to the elements
for hours or days. She is negative for alcohol and drugs on laboratory
testing. Aside from mild dehydration, she is medically stable.
Physical exam shows no neurological abnormalities. Finally, staff
members find in her belongings an employee identification card from
a mall where a shooting occurred 2 days earlier. When asked about
that event, she has no recollection of it and seems unbothered. Her
speech is clear and fluent, and she denies any perceptual changes.
Police match her to a missing person report that her mother placed the
previous day. What is the likely diagnosis?
A. Bipolar I disorder.
B. Depersonalization/derealization disorder.
C. Dissociative amnesia with dissociative fugue.
D. Schizophrenia.
106. Police arrest a 26-year-old man who got into a fight in a bar after he
was discovered in the act of stealing the wallet of another customer.
He defended his behavior to the police, stating that the other man had
provoked him earlier in the evening by calling him a profane name.
Review of his criminal record reveals charges, including some as a
minor, for credit card fraud and selling cocaine. He lives alone and is
currently unemployed. He has no psychiatric history. He does not
report any recent hallucinations or changes in his mood or sleep.
What is the likely diagnosis?
108. A child is struggling in second grade. Her teacher called her parents
for a conference due to concerns that she has become forgetful in
class, is often seen to be daydreaming, and has serious difficulty
following multistep directions. Her mother noted that “in second
grade there is some real homework and she cannot sit down and focus
on doing it. Half the time she even forgets it at home in the morning.”
Her teacher recalls careless errors on simple mathematics
assignments. The child’s father reminds them, “She has been this way
for years. You cannot get her to focus, even if it is on making her bed
or brushing her teeth.” What is the likely diagnosis?
A. Bipolar I.
B. Bipolar II.
C. Cyclothymia.
A. Obsessive-compulsive disorder.
B. Obsessive-compulsive personality disorder.
C. Persistent motor or vocal tic disorder.
D. Tourette’s disorder.
114. Match each time criterion with the most appropriate diagnoses (each
time criterion may be used once, more than once, or not at all):
A. Bipolar I.
B. Bipolar II.
C. Substance/medication-induced bipolar and related disorder.
D. Substance/medication-induced psychotic disorder.
ANSWERS
1. B. Echolalia.
3. D. Schizophrenia.
8. D. 1 year.
10. A. Delusion.
30. B. Agoraphobia.
31. B. The patient has had suicidal thoughts every day for the past 3
weeks, and yesterday she searched “how to kill yourself” on the
Internet.
44. D. Increased activity or energy has been added as a new core mood
elevation symptom.
49. D. Trichotillomania.
58. B. Categorical.
64. C. Kleptomania.
66. A. Blunt.
68. D. Puberty.
69. B. Encopresis.
77. D. Lethargic.
78. A. Conversion disorder (functional neurological symptom disorder).
80. D. Pyromania.
83. B. Narcolepsy.
Abuse
in childhood, and benefit of psychiatric diagnosis, 14
history of physical or sexual,
dissociative disorders and, 195, 203, 204, 205, 206, 208
trauma- and stressor-related disorders and, 180, 181
Accuracy, of diagnosis, 14–15
Acrotomophilia, 443
Activities of daily living
autism spectrum disorder and, 57, 59
intellectual disability and, 52, 54
neurocognitive disorders and, 391, 402, 409, 411
Acute stress disorder
approach to diagnosis of, 181
assessment of, 183–184
case example of, 180–181, 183–184
clarifying diagnosis of, 182–183
context for, 180–181
clinical interviews and psychiatric history in, 182
differential diagnosis of, 184–185, 189, 388
qualifying traumatic events for, 178–179
summary of diagnostic issues in, 185–186
Adaptive functioning. See Activities of daily living
ADHD. See Attention-deficit/hyperactivity disorder
Adjustment disorders
approach to diagnosis of, 187
assessment of, 188–189
case examples of, 186, 188–189
changes in DSM-5 and, 179
clarifying diagnosis of, 188
clinical interviews and psychiatric history in, 187–188, 189
context for, 186
differential diagnosis of, 189–190, 222
suicide risk and, 187, 189
summary of diagnostic issues in, 190
Adolescence. See also Children
enuresis and, 261
feeding and eating disorders and, 248
gender dysphoria in, 318, 319, 324–330, 331
tobacco-related disorders and, 372
Adults. See also Older adults
diagnosis of attention-deficit/hyperactivity disorder in, 64
gender dysphoria in, 318, 319, 324–330, 331
responses to traumatic events by, 178
symptom criteria for posttraumatic stress disorder in children and,
181
Affect. See also Distress; Emotions
disruptive mood dysregulation disorder, and negative, 120, 121
mental status examination and, 26
Age. See Adolescence; Adults; Age at onset; Children; Older adults
Age at onset
of alcohol-related disorders, 353, 354, 356
of anorexia nervosa, 242, 248
of bipolar and related disorders, 108
of brief psychotic disorder, 82
of bulimia nervosa, 246, 248
of cannabis-related disorders, 359
of conversion disorder, 225
of delayed ejaculation, 298
of disruptive mood dysregulation disorder, 122
of exhibitionistic disorder, 446
of fetishistic disorder, 454
of gender dysphoria, 329
of illness anxiety disorder, 219
of insomnia disorder, 269
of intermittent explosive disorder, 341, 343
of oppositional defiant disorder, 339
of persistent depressive disorder, 124
of schizophrenia, 74, 78, 80
of social anxiety disorder, 144
of tobacco-related disorders, 371
Aggression
as common symptom in disruptive, impulse-control, and conduct
disorders, 345
intermittent explosive disorder and, 340, 342, 344
Aging, and sexual dysfunctions, 312
Agoraphobia, 138, 143
AHI. See Apnea hypopnea index
Alcohol-related disorders. See also Alcohol use
approach to diagnosis of, 352–353
assessment of, 355
case examples of, 351–352, 353–354, 355
clarifying diagnosis of, 354–355
clinical interviews and psychiatric history in, 353–354
context for, 351–352
differential diagnosis of, 355–356
prognosis for, 374
summary of diagnostic issues in, 356–357
Alcohol use. See also Alcohol-related disorders; Substance abuse/use
ambivalence regarding discontinuation of, 354
major or mild NCD due to Alzheimer’s disease and, 391, 393
major or mild NCD due to TBI and, 407, 409
opioid intoxication and, 365
panic disorder and, 142
Aldehyde dehydrogenase, 355
Alzheimer’s disease. See Major or mild NCD due to Alzheimer’s
disease
Amnesia, and dissociative identity disorder, 196, 205. See also
Dissociative amnesia; Posttraumatic amnesia
Amotivational syndrome, and cannabis-related disorders, 361
Amphetamines, 367
Anemia, and restless legs syndrome, 284
iron deficiency, 283, 286
Anger
borderline personality disorder and, 422, 423
as common symptom in disruptive, impulse-control, and conduct
disorders, 345
intermittent explosive disorder and, 340, 341, 342, 343
Anhedonia, and major depressive disorder, 117
Anorexia nervosa
approach to diagnosis of, 240
assessment of, 242
bulimia nervosa and, 244
case examples of, 239, 241, 242
clarifying diagnosis of, 241
clinical interviews and psychiatric history in, 241
context for, 239–240
definition of, 234
differential diagnosis of, 242–243
mortality and, 248
summary of diagnostic issues in, 243
Antisocial personality disorder
age and diagnosis of, 416
alcohol use disorder and, 356
changes in DSM-5 and, 336
definition of, 417
narcissistic personality disorder and, 435
opioid-related disorders and, 362, 366
pedophilic disorder and, 450
Anxiety. See also Anxiety disorders
delayed ejaculation and, 301
illness anxiety disorder and, 219, 220, 222
obsessive-compulsive and related disorders and, 172
pedophilic disorder and, 450
restless legs syndrome and, 286
somatic symptom disorder and, 217
stimulant-related disorders and, 369, 370
trauma- and stressor-related disorders and, 179–180
Anxiety disorders, 137–153. See also Anxiety; Generalized anxiety
disorder; Panic disorder; Social anxiety disorder
benefit to patient of diagnosis, 14
cannabis-related disorders and, 360
conversion disorder and, 226
introduction to diagnostic class of, 137–139
male hypoactive sexual desire disorder and, 309
obsessive-compulsive disorder and, 161
self-assessment on, 151–153
summary on, 150
Apnea hypopnea index (AHI), 273, 279
Appearance, and mental status examination, 26
“Apprehensive expectation,” and generalized anxiety disorder, 138,
147, 150
Arousal, and posttraumatic stress disorder, 178, 181. See also
Hyperarousal
Assessment. See also Diagnosis; Neuropsy-chological assessment;
specific disorders
of obsessive-compulsive and related disorders, 156–157
clinical interviewing process and, 22–23, 27–28
tools of
approaches to, 27, 28
depersonalization/derealization disorder and, 198
mental status examination, 26
Attention
delirium and, 384, 386, 387
major or mild NCD due to TBI and, 404, 406
major or mild vascular NCD and, 400, 401
Attention-deficit/hyperactivity disorder (ADHD)
approach to diagnosis of, 62–63
assessment of, 64–65
case examples of, 61, 63, 64–65
clarifying diagnosis of, 64
clinical interview and psychiatric history for, 63
context for, 61–62
differential diagnosis of, 62, 65, 282, 339
enuresis and, 261, 262
suicide risk and, 63
summary of diagnostic issues in, 65
Attenuated psychosis syndrome, 73
Autism spectrum disorder
approach to diagnosis of, 57
assessment of, 59–60
case examples of, 56, 59
children with schizotypal personality disorder and, 431
clarifying diagnosis of, 58
clinical interview and psychiatric history for, 57–58
context for, 56
differential diagnosis of, 60–61, 95, 162, 286
pica and, 236, 238, 239
summary of diagnostic issues in, 61
Autoreferential model, and diagnostic classification, 38
Avoidance
posttraumatic stress disorder and, 178, 181
social anxiety disorder and, 144, 150
Avoidant personality disorder, 417
Avoidant/restrictive food intake disorder, 234, 242
Awareness, and delirium, 384
Kleptomania, 345
Naloxone, 365
Narcissistic personality disorder
approach to diagnosis of, 433
assessment of, 434–435
case examples of, 432, 433–434
clarifying diagnosis of, 434
clinical interview and psychiatric history for, 434
context for, 432–433
definition of, 417
differential diagnosis of, 427, 435
summary of diagnostic issues in, 435–436
Narcolepsy
approach to diagnosis of, 274
assessment of, 276
case examples of, 273, 275, 276
clarifying diagnosis of, 275–276
clinical interview and psychiatric history for, 275
context for, 273–274
definition of, 267
differential diagnosis of, 272, 277
summary of diagnostic issues in, 277–278
NCD. See Neurocognitive disorders
NCDLB. See Major or mild NCD with Lewy bodies
Necrophilia, 443
Negative symptoms, 71, 72, 76, 80, 95
brief psychotic disorder and, 81, 83
schizoaffective disorder and, 90
Nervousness, and generalized anxiety disorder, 148
Neurocognitive disorders (NCDs), 381–414. See also Delirium; Major
or mild NCD due to Alzheimer’s disease; Major or mild NCD with
Lewy bodies; Major or mild NCD due to TBI; Major or mild vascular
NCD
differential diagnosis of delirium and, 387
introduction to diagnostic class of, 381–383
pedophilic disorder and, 450
self-assessment on, 412–414
summary on, 409–411
Neurodevelopmental disorders, 49–70. See also Attention-
deficit/hyperactivity disorder; Autism spectrum disorder; Intellectual
disability
introduction to diagnostic class of, 49–51
self-assessment on, 67–70
summary on, 66
Neuroimaging, and major or mild vascular NCD, 401, 403
Neuroleptic medications, and major or mild NCD with Lewy bodies,
395, 396, 398, 399
Neuroleptic-induced akathisia, 286
Neurological symptoms
conversion disorder and, 226
dissociative identity disorder and, 196
Neuropsychological assessment
major or mild NCD due to Alzheimer’s disease and, 389, 390,
392
major or mild NCD with Lewy bodies and, 394, 396, 397
major or mild NCD due to TBI and, 404, 407
Nightmare disorder, 268
Nocturnal enuresis, 262–263
Nonexclusive categorization, and prevalence of mental disorders, 40
Nonexclusive type, of pedophilic disorder, 448
Non-rapid eye movement (NREM) sleep arousal disorder, 268
Non-substance-related disorders, 350
“Not otherwise specified” language, 41
Nudism, and exhibitionistic disorder, 446
Zoophilia, 443
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