Aspergers Syndrome Diagnosis and Treatment

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The article discusses Asperger's syndrome including its history, diagnosis, and treatment recommendations. It presents a case study of a 15-year-old boy named Marc who is struggling both socially and academically.

Marc struggles academically and is falling further behind in school. He has difficulty maintaining conversations on most topics and sustaining friendships outside of school. He also experiences significant anxiety and depressed mood.

Asperger's syndrome is considered a variant of autism rather than a distinct disorder. Diagnosis involves evaluating a patient's social communication abilities, restricted interests and repetitive behaviors, as well as their family and developmental history.

See discussions, stats, and author profiles for this publication at: https://www.researchgate.

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Asperger’s Syndrome: Diagnosis and Treatment

Article  in  American Journal of Psychiatry · September 2008


DOI: 10.1176/appi.ajp.2008.08020272 · Source: PubMed

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Treatment in Psychiatry
Treatment in Psychiatry begins with a hypothetical case illustrating a problem in current clinical practice. The authors
review current data on prevalence, diagnosis, pathophysiology, and treatment. The article concludes with the authors'
treatment recommendations for cases like the one presented.

Asperger’s Syndrome: Diagnosis and Treatment

Karen Toth, Ph.D. guage abilities, similar to those Kanner (2) described as
autistic in 1943. The similarities Asperger noted among
Bryan H. King, M.D. these individuals with widely varying intellectual and lan-
guage abilities presaged the current notion of a “spec-
trum” of autistic disorders (3). Asperger’s contribution to
the field went beyond merely identifying and describing
this condition; he was concerned that affected children
“Marc” is a 15-year-old male who pre- would be misunderstood and maltreated, so he sought to
sents with his parents for evaluation be- increase awareness of autism. He also advocated an ap-
cause of significant symptoms of anxiety proach to education that involved individualized atten-
and depressed mood. Marc responds ver- tion, an emphasis on strengths rather than weaknesses,
bally when greeted in the waiting room and engagement in learning by tapping into the child’s
but avoids eye contact. He has an above- special interests. These approaches continue to be used
average IQ, with significantly higher ver- today in the education of children with AS.
bal than nonverbal abilities. Academic
difficulties in elementary school led to a
diagnosis at age 8 of nonverbal learning Diagnosis
disability. Marc continues to struggle aca- Although Asperger first described cases in 1944, the
demically and is falling further and fur- term “Asperger’s syndrome” as a diagnostic label did not
ther behind in school. He has strong in- come into use until several decades later when Wing (4)
terests in the Titanic and baseball that
argued that autism included not only children who were
involve recitation of facts, dates, and
aloof but also those who were socially active but odd in
numbers. He will talk at length on these
their behavior. Wing proposed a spectrum of disorders
topics, often using language that is more
with varying degrees of severity in each of the three symp-
formal than expected for his age, but he
tom domains that together comprise the diagnostic crite-
is unable to sustain conversations on
other topics. Although Marc prefers to in- ria for autism, namely, impairment in social interaction,
teract with adults, he does describe him- impairment in communication, and restricted, repetitive,
self as having friends; later his parents re- and stereotyped patterns of interests and behaviors. At
veal that he does not interact with peers about the same time that AS became a widely used de-
outside of school, and when asked, Marc scriptive label, the term “high-functioning autism” was
is unable to describe what it means to be also being used to refer to children with autism who were
a friend. Marc’s parents are very con- relatively more able, in either verbal or nonverbal intelli-
cerned about the widening gap between gence (5). Clinically, these two labels are sometimes used
Marc’s social development and that of his interchangeably, often describing children with autism
peers. Marc’s history includes perinatal who are atypical in their presentation and who frequently
problems, and his family history includes initiate social interactions (albeit lacking in reciprocity) as
autism spectrum disorder. opposed to those who are more avoidant or aloof.
DSM-IV-TR provides criteria for a differential diagnosis of
AS based on intact cognitive ability (absence of mental retar-
dation or intellectual disability), no delays in early language
Asperger’s syndrome (AS) is considered to be a variant of milestones (i.e., use of single words by age 2 and phrases by
autism rather than a distinct disorder, similar if not equiv- age 3; see Table 1). However, this does not imply that lan-
alent to high-functioning autism. The condition was first guage acquisition in AS is normal; for example, there may be
recognized and labeled “autistic psychopathy” by As- deficits in pragmatic (i.e., social use of) language or use of
perger in 1944 (1). Asperger’s most famous cases were pa- overly formal or repetitive language. Hence, this distinction
tients described as having above-average intellectual and remains problematic. Results of research that has attempted
language abilities, with significant disturbances in social to support a distinction between AS and high-functioning
and affective communication. However, Asperger also de- autism have thus far been mixed. The following section pre-
scribed cases of patients with low intellectual and lan- sents a brief review of this research (see also reference 6).

This article is featured in this month’s AJP Audio.

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TREATMENT IN PSYCHIATRY

Asperger’s Syndrome vs. High-Functioning are defined on the basis of severity of impairment, so stud-
Autism ies that appear to confirm differences relating to severity
of impairment are to be expected. More systematic studies
Over the past two decades, a growing body of research of both quantitative and qualitative aspects of functioning
has attempted to address the diagnostic and phenotypic are needed.
ambiguity between AS and high-functioning autism.
Some authors believe that the neuropsychological and be- Epidemiology and Pathophysiology
havioral profiles of AS and high-functioning autism differ
(e.g., reference 7), while others have argued that there is Current estimates indicate that AS occurs at a rate of
little empirical evidence for a distinction between these about 2.5/10,000, as compared to 60/10,000 for all autism
two disorders (e.g., references 8, 9). Ozonoff and col- spectrum disorders (that is, autistic disorder, pervasive de-
leagues (10) conducted a comprehensive study that exam- velopmental disorder not otherwise specified, and AS).
ined differences based on external criteria (cognitive/ These rates represent an upward trend over time, due at
intellectual profiles, executive func- least in part to changes in case definition and improved
tion, language, current symptoms, awareness (13). The rates for AS have
early history, and course of illness) as not been well established because of the
opposed to criteria involving the def- “A primary focus of most paucity of research with carefully diag-
inition of the two syndromes. They intervention programs nosed studies
samples. Likewise, relatively few
of genetic and environmental
found few group differences in cur-
rent symptom presentation and cog- for individuals with AS is factors in the pathophysiology of AS
have involved large and well-character-
nitive function but many differences on enhancing social ized samples. One such study examined
in early history. Individuals with AS
outperformed those with high-func- competence.” in detail the family, prenatal, and perin-
tioning autism on the comprehen- atal histories of 100 male children with
sion subtest of the WISC-III and in AS who were followed into late adoles-
expressive language ability, but there were no differences cent and early adulthood (14). Results indicated a paternal
on measures of executive function (flexibility and plan- family history of autism spectrum disorder in about 50% of
ning). Individuals with AS also had better imaginative and the sample, and pre- and perinatal risk factors in about
creative abilities and more circumscribed interests, 25% of cases. Pre- and perinatal factors included prenatal
whereas those with high-functioning autism showed a exposure to alcohol, severe postnatal asphyxia, neonatal
greater insistence on sameness. Early history variables seizures, and prematurity.
were best able to differentiate the two disorders. Com- Even fewer studies have examined risk factors by diag-
pared with children with AS, those with high-functioning nostic subgroup. One such study examined obstetric risk
autism were more impaired in early language develop- factors and found fewer pregnancy and labor complica-
ment and behavior over the preschool period, had more tions in patients with AS than in those with autism, perva-
severe lifetime symptoms, and had a greater need for spe- sive developmental disorder not otherwise specified, and
cialized education services. Ozonoff et al. concluded that comparison subjects; those with AS were more likely to
AS and high-functioning autism appear to be on the same have a forceps or vacuum delivery than those with autism,
spectrum but differ primarily in severity of developmental but they did not differ from comparison subjects on a
course. However, in terms of prognosis, the preschool-age number of other pre- and perinatal variables (15).
differences they identified had largely disappeared by ad- Most studies of pre- and perinatal risk factors conclude
olescence, indicating that the prognosis for individuals that these factors do not operate independently in autism
with high-functioning autism may be better than previous but may be related to extant fetal abnormalities or to
studies have reported. genetic or environmental factors. This has led many re-
A more recent study (11) examined the core symptom searchers to speculate whether children with similar
domain of social interaction and used the Wing and Gould genetic risk factors vary in phenotypic expression (i.e.,
(12) classification system (aloof, passive, and active but symptom severity) due to exposure to different levels of en-
odd) to evaluate potential differences in quality of social vironmental risk. Regarding genetic factors, a genome-wide
interaction between individuals with AS and those with scan for susceptibility loci was performed on a sample of in-
autism. Results showed that individuals with AS tended to dividuals with AS, identifying two loci (on chromosomes 1
be active but odd in presentation as compared with the and 3) that have similarly been implicated in the genetics of
more aloof and passive profile of those with autism, sup- autistic disorder (16). Studies such as these support the pre-
porting the view that these two groups may differ both in vailing view that AS is not a separate disorder from autism
symptom severity (i.e., quantitatively) and in the quality of but a variant on the milder end of the spectrum (5).
their social impairment.
There continues to be much debate regarding the over- Evidence-Based Assessment
lap and differentiation of these two disorders. It is fueled In spite of the continuing debate regarding diagnostic
in part by a tautological dilemma wherein the disorders issues, an evidence-based, best-practice assessment ap-

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TREATMENT IN PSYCHIATRY

TABLE 1. DSM-IV-TR Criteria for Autistic Disorder and Asperger’s Disorder


Criteria for Autistic
Domain of Functioning and Symptom Checklist Disorder Criteria for Asperger’s Disorder
Social interaction 2 or more 2 or more symptoms
symptoms
Marked impairment in the use of multiple nonverbal
behaviors such as eye-to-eye gaze, facial expression, body
postures, and gestures to regulate social interaction
Failure to develop peer relationships appropriate to
developmental level
A lack of spontaneous seeking to share enjoyment, interests,
or achievements with other people (e.g., by a lack of
showing, bringing, or pointing out objects of interest)
Lack of social or emotional reciprocity
Communication 1 or more No clinically significant delay in cognitive or adaptive
symptoms abilities; early language milestones met on time
(single words by age 2, phrases by age 3); other
communication impairments may be present
Delay in, or total lack of, the development of spoken
language (not accompanied by an attempt to compensate
through alternative modes of communication such as
gesture or mime)
In individuals with adequate speech, marked impairment in
the ability to initiate or sustain a conversation with others
Stereotyped and repetitive use of language or idiosyncratic
language
Lack of varied, spontaneous make-believe play or social
imitative play appropriate to developmental level
1 or more
Restricted, repetitive, stereotyped interests and behaviors symptoms 1 or more symptoms
Encompassing preoccupation with one or more stereotyped
and restricted patterns of interest that is abnormal either
in intensity or focus
Apparently inflexible adherence to specific, nonfunctional
routines or rituals
Stereotyped and repetitive motor mannerisms (e.g., hand or
finger flapping or twisting, or complex whole-body
movements)
Persistent preoccupation with parts of objects

proach for autism spectrum disorders, including AS, in- drome Diagnostic Scale (24), and the Adult Asperger As-
cludes a core diagnostic assessment as well as additional sessment (25).
assessment for treatment planning, as described below.
The instruments mentioned here are tools only and Additional Assessment for Treatment Planning
should not be used, in and of themselves, to make a diag- A comprehensive evaluation should also include
nosis (17). screening for medical and psychiatric issues, including
seizures, sleep difficulties, significant sensory issues dis-
Core Diagnostic Assessment
rupting daily function, anxiety and depression, and other
A comprehensive assessment for AS should include, at psychiatric and behavioral issues. In addition, a review of
minimum, a detailed developmental history and review of school records and previous testing and interventions, as
social, communication, and behavioral development. well as consultation with the child’s teachers for their ob-
Most centers use a tool such as the Autism Diagnostic In- servations, particularly of peer interactions, is important
terview—Revised (18, 19) for this purpose. Direct observa- to inform diagnosis and treatment planning. Assessment
tion of the patient, using the Autism Diagnostic Observa- of intellectual, language, adaptive, and neuropsychologi-
tion Schedule (20, 21), is also essential to gather the kind of cal functioning may be conducted to further inform edu-
information (i.e., observations of social behavior) neces- cational planning and treatment. Finally, an occupational
sary for a diagnosis. The Autism Diagnostic Observation therapy evaluation, with assessment of strategies to miti-
Schedule is a semistructured interview that requires es- gate sensory issues, may be warranted, along with assess-
tablished reliability and therefore is often conducted by ment of the family system (e.g., stress, depression, access
practitioners specifically trained in autism spectrum dis- to community resources), to improve outcomes for chil-
orders. Diagnostic tools specific to AS have been devel- dren with AS (26).
oped, but in general they have not been standardized with
participants with confirmed diagnoses of AS, and psycho- Comorbid Psychiatric Disorders
metric properties have not been well studied. These in-
clude the Autism Spectrum Screening Questionnaire (22), The most common comorbid diagnosis in individuals
the Gilliam Asperger Disorder Scale (23), the Asperger Syn- with AS and high-functioning autism is depression, occur-

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TREATMENT IN PSYCHIATRY

ring in as many as 41% of patients (27). Other psychiatric Interventions to Improve Social Competence
disorders or symptoms that have been reported include A primary focus of most intervention programs for indi-
anxiety (8%), bipolar disorder (9%), schizophrenia (9%), viduals with AS is on enhancing social competence; here
attempted suicide (7%), hallucinations (6%), mania (5%), we describe both general and newer, targeted approaches.
psychotic disorder not otherwise specified (3%), schizoid Social skills are typically taught using a variety of meth-
personality disorder (3%), and obsessive-compulsive dis- ods and in different settings, such as friendship groups at
order (OCD) (1%). To compare these rates to those in chil- school, classroom activities, privately taught social skills
dren with autism, in a recent study of 109 children with group therapy programs, buddy or mentoring programs,
autism (28), the most prevalent diagnoses were specific and through individual and dyadic (i.e., pairing the child
phobia (44%), OCD (37%), attention deficit hyperactivity with AS with a peer) therapy. Methods or strategies for
disorder (ADHD) (31%), and depression (10%). The rela- teaching social skills include direct instruction, role play-
tively high rate of ADHD in Leyfer and colleagues’ sample ing, modeling, social stories, in vivo practice with peers,
(28) is of interest in light of the fact that the current DSM and constructive feedback. The social stories technique
specifically excludes comorbidity with autism. Whether refers to stories that can be written and illustrated to fit
such a trumping rule is appropriate is the subject of cur- any scenario, with the goal of providing information on
rent debate. Care must be taken when diagnosing certain what people in a given situation are doing, thinking, and
other disorders, such as schizophrenia and psychosis, be- feeling. Social stories indicate the sequence of events,
identify significant social cues and their meaning, and
cause the intense preoccupations and interests seen in in-
script for the child what he or she should do or say. Social
dividuals with AS can resemble delusions and disorders of
stories are especially helpful in new situations, which of-
thinking (29). In these cases, a detailed history must be ob-
ten cause anxiety because they are unknown and unpre-
tained to determine the presence of such idiosyncratic in-
dictable, but they are useful in any situation to enhance
terests prior to the onset of a presumed psychosis. It could the child’s understanding of what is likely to occur and to
also be argued that personality traits, for example schizoid explain what is expected of the child. The perspective of all
or obsessive-compulsive, are much more common than participants in a given social story is carefully delineated,
currently reported in individuals with high-functioning as theory of mind skills (i.e., the ability to take another’s
autism or AS and that the differential diagnosis in this do- point of view) are often impaired in people with AS and
main is potentially very complicated. must be directly taught (36).
Other general techniques for teaching social skills in-
Treatment clude first breaking skills down into smaller subskills and
then teaching each skill through modeling and role plays.
The average age at diagnosis of AS is about 11 years, For example, conversation skills can be broken down into
compared with 5.5 years for autism (30). This is problem- a number of subskills, such as greeting others, initiating
atic, as prognosis is related not only to cognitive and lan- topics, staying on topic, maintaining reciprocity, using
guage abilities but also to the provision of early, appropri- nonverbal communication (eye contact, facial expres-
ate, structured education programs (31) and interventions sions, gestures) appropriately, checking in to see if the lis-
aimed at improving social competence (32, 33). A limited tener is still interested, and appropriately ending conver-
number of studies have examined the efficacy of treat- sations (i.e., saying goodbye). Higher-level skills can
ment approaches specific to AS or high-functioning au- include accepting suggestions, handling criticism, resolv-
tism. No single methodology or intervention strategy has ing conflicts, and showing empathy. Understanding the
been identified as the most effective or shown to be suc- child’s cognitive profile is essential in tailoring a social
cessful for all participants, nor is there a single compre- skills program to an individual child’s needs and strengths.
hensive treatment program for individuals with these dis- For example, verbal strategies should be utilized with chil-
orders. Common approaches to treatment include adult- dren with better-developed verbal abilities, while visual
directed behavioral programs, such as those using princi- strategies (e.g., social stories) should be emphasized with
children with higher visual problem-solving skills.
ples of applied behavior analysis, naturalistic child-cen-
tered approaches, or a combination approach drawing on Targeted Intervention Strategies
behavioral, developmental, and social-pragmatic princi-
In recent years, a number of intervention studies have
ples (34). The National Research Council and the Commit-
focused on teaching discrete aspects of social compe-
tee on Educational Interventions for Children With Autism tence, such as joint attention, emotion recognition, and
have identified critical variables for treatment planning, theory of mind abilities. In general, these studies have in-
including prioritizing goals based on core challenges in dicated positive results, but they have been limited by
social communication, establishing proactive approaches small sample sizes (many are best characterized as pilot
to problem behaviors, individualizing modes of instruc- studies) and lack of long-term follow-up. Nevertheless,
tion, implementing supports across contexts, planning for they point to the utility of focused and individualized
transitions, addressing psychiatric comorbidity, and pro- treatment strategies to augment more broad-based edu-
viding family support and education (35). cational and social skills interventions for children with

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TREATMENT IN PSYCHIATRY

autism and AS. In a training study of theory of mind and drome, anxiety disorder not otherwise
executive function, Fisher and Happé (37) found that in a specified, and depression not otherwise
relatively short period (i.e., 5–10 days of training), children specified. Marc’s anxiety was determined
with autism spectrum disorders could improve their per- to be related to both school and social in-
formance on theory of mind tasks but not on executive teractions. His depression, which did not
function tasks. In a study that examined the use of assis- meet full criteria, was based on a history
tive technology to teach emotion recognition to students of social failure and rejection and his re-
with AS, LaCava and colleagues (38) found improved per- port of lessened interest in and activities
formance not only on basic and complex emotions that related to his areas of intense focus (e.g.,
he reported that baseball was less enjoy-
were directly taught via a computer software program but
able). Recommended interventions in-
also on complex voice emotion recognition for emotions
cluded working with an autism specialist,
not specifically included in the training software. Finally,
privately or through the school district,
Turner-Brown and colleagues (39) demonstrated the util- who could advocate for Marc and his par-
ity of a group-based cognitive behavioral intervention to ents to ensure that he received addi-
teach theory of mind and other social communication tional specialized education services and
skills to adults with high-functioning autism. accommodations to address his aca-
In sum, a comprehensive treatment plan for a child or demic difficulties. For Marc’s anxiety and
adolescent with AS should capitalize on strengths, target depression, treatment with a selective se-
specific areas of impairment (social, academic, adaptive) rotonin reuptake inhibitor as well as indi-
as well as comorbid medical or psychiatric disorders, and vidual psychotherapy was recom-
be implemented across settings to ensure success and mended. Since individuals with AS, even
generalization of skills. Additionally, there is emerging those who are highly verbal, tend to re-
evidence to support the use of interventions targeting spond best to behavioral strategies, a
discrete aspects of social functioning to augment more concrete, skills-based approach to psy-
broad-based intervention approaches. chotherapy was recommended rather
than a primarily cognitive approach. Tar-
geted social skills interventions to pro-
Summary and Recommendations mote prosocial skills and expand Marc’s
peer group were recommended for im-
AS, although first identified in 1944, is a relatively new
plementation once his anxiety and de-
diagnostic label referring to a set of behavioral character-
pression improved. Finally, a recommen-
istics shared by children with autism. Children and adults
dation for private speech and language
with AS typically have higher intellectual and linguistic
therapy to address pragmatic deficits as
abilities than those with autism but are quite impaired in well as social skills deficits was made.
their social communication skills. Individuals with AS are Marc’s parents were directed to state and
also at higher risk for certain psychiatric and medical dis- local resources and support groups. The
orders, such as depression, anxiety, and seizures. Diagnos- diagnosis was discussed with Marc di-
ing AS can be tricky, as the diagnostic criteria are not rectly, and he was given a list of excellent
clearly differentiated from those defining autistic disorder. web sites that provide both information
The prevailing view in the literature is that AS is not a dis- and community for adolescents and
tinct disorder but a milder variant of autism. Whether or adults with AS.
not this is so, children with AS are typically diagnosed at
much older ages than those with autism, and thus appro-
priate and targeted interventions are often not initiated at
early ages, when they may have the greatest impact. Nev-
ertheless, a number of strategies, including those promot- Received Feb. 21, 2008; revision received April 26, 2008; accepted
April 28, 2008 (doi: 10.1176/appi.ajp.2008.08020272). From the Chil-
ing social competence, are widely used with children with dren’s Hospital and Regional Medical Center; and the Department of
AS and have been shown to have a positive impact on out- Psychiatry and Behavioral Sciences, University of Washington, Seat-
comes. Pharmacotherapy for associated conditions in AS tle. Address correspondence and reprint requests to Dr. King, Direc-
tor of Child and Adolescent Psychiatry, Children’s Hospital and Re-
has not been systematically studied and is currently in-
gional Medical Center, 4800 Sand Point Way, N.E., Seattle, WA 98105;
formed by research in the general population. [email protected] (e-mail).
Dr. Toth receives support from NIH. Dr. King has received research
funding from Autism Speaks and NIH and has served as a consultant
for Biomarin and Neuropharm and as an unpaid consultant for Sea-
side Therapeutics and Nastech.
After careful review of developmental
history, school records, and past medical
records as well as time spent directly ob- References
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