MODULE-3

MENTAL RETARDATION or I.D. or INTELLECTUAL DEVELOPMENT DISORDER-

Diagnostic Criteria
Intellectual disability (intellectual developmental disorder) is a disorder with onset during the
developmental period that includes both intellectual and adaptive functioning deficits in
conceptual, social, and practical domains.

The following three criteria must be met:

A. Deficits in intellectual functions, such as reasoning, problem solving, planning, abstract
thinking, judgment, academic learning, and learning from experience, confirmed by both clinical
assessment and individualized, standardized intelligence testing.

B. Deficits in adaptive functioning that result in failure to meet developmental and sociocultural
standards for personal independence and social responsibility. Without ongoing support, the
adaptive deficits limit functioning in one or more activities of daily life, such as communication,
social participation, and independent living, across multiple environments, such as home,
school, work, and community.

C. Onset of intellectual and adaptive deficits during the developmental period.

Note: The diagnostic term intellectual disability is the equivalent term for the ICD-11 diagnosis of
intellectual developmental disorders. Moreover, a federal statute in the United States (Public
Law 111-256, Rosa’s Law) replaces the term mental retardation with intellectual disability, and
Research journals use the term intellectual disability.

Specify current severity:

317 (F70) Mild 50–55 to approximately 70
318.0 (F71) Moderate 35–40 to 50–55
318.1 (F72) Severe 20–25 to 35–40
318.2 (F73) Profound below 20–25
Diagnostic features-
Mild:
• Individuals with mild intellectual disability constitute by far the largest number of those
diagnosed with intellectual disability
• Within the educational context, people in this group are considered educable, and their
intellectual levels as adults are comparable to those of average 8-to 11-year-old children.
• An adult with mild disability with a mental age of, say, 10 (that is, his or her intelligence test
performance is at the level of the average 10-year-old) may not in fact be comparable to the
average 10-year-old in information-processing ability or speed (Weiss et al., 1986).
• On the other hand, he or she will normally have had far more experience in living, which would
tend to raise the measured intelligence scores.
• The social adjustment of people with mild intellectual disability often approximates that of
adolescents, although they tend to lack normal adolescents' imagination, inventiveness, and
judgment.
• Ordinarily, they do not show signs of brain pathology or other physical anomalies, but often
they require some measure of supervision because of their limited abilities to foresee the
consequences of their actions.
• With early diagnosis, parental assistance, and special educational programs, the great majority
of borderline and individuals with mild intellectual disability can adjust socially, master simple
academic and occupational skills, and become self-supporting citizens.

Moderate:
• Individuals with moderate intellectual disability are likely to fall in the educational category of
trainable, which means that they are presumed able to master certain routine skills such as
cooking or minor janitorial work if provided specialized instruction in these activities.
• In adult life, individuals with moderate intellectual disability attain intellectual levels similar to
those of average 4- to 7-yearold children.
• Although some can be taught to read and write a little and may manage to achieve a fair
command of spoken language, their rate of learning is slow, and their level of conceptualizing is
extremely limited.
• They usually appear clumsy and ungainly, and they suffer from bodily deformities and poor
motor coordination.
• Some individuals with moderate intellectual disability are hostile and aggressive; more
typically, they are affable and nonthreatening. In general, with early diagnosis, parental help,
and adequate opportunities for training, most individuals with moderate intellectual disability can
achieve partial independence in daily self-care, acceptable behavior, and economic sustenance
in a family or other sheltered environment.

Severe:
• In individuals with severe intellectual disability, motor and speech development are severely
retarded and sensory defects and motor handicaps are common.
• They can develop limited levels of personal hygiene and self-help skills, which somewhat
lessen their dependency, but they are always dependent on others for care.
• However, many profit to some extent from training and can perform simple occupational tasks
under supervision.

Profound:
• Most individuals with profound intellectual disability are severely deficient in adaptive behavior
and unable to master any but the simplest tasks.
• Useful speech, if it develops at all, is rudimentary.
• Severe physical deformities, central nervous system pathology, and retarded growth are
typical; convulsive seizures, mutism, deafness, and other physical anomalies are also common.
• These individuals must remain in custodial care all their lives. They tend, however, to have
poor health and low resistance to disease and thus a short life expectancy.
• These individuals show a marked impairment of overall intellectual functioning.
• Severe and profound cases of intellectual disability can usually be readily diagnosed in infancy
because of the presence of obvious physical malformations, grossly delayed development (e.g.,
in taking solid food), and other obvious symptoms of abnormality

Associated features-
Associated with difficulties with social judgment; assessment of risk; self-management of
behavior, emotions, or interpersonal relationships; or motivation in school or work environments.
Lack of communication skills may predispose to disruptive and aggressive behaviors. Gullibility
is often a feature, involving naiveté in social situations and a tendency for being easily led by
others. Gullibility and lack of awareness of risk may result in exploitation by others and possible
victimization, fraud, unintentional criminal involvement, false confessions, and risk for physical
and sexual abuse. Individuals with a diagnosis of intellectual disability with co-occurring mental
disorders are at risk for suicide. They think about suicide, make suicide attempts, and may die
from them.

Development and Course

•Onset of intellectual disability is in the developmental period. The age and characteristic
features at onset depend on the etiology and severity of brain dysfunction.
•Delayed motor, language, and social milestones may be identifiable within the first 2 years of
life among those with more severe intellectual disability, while mild levels may not be identifiable
until school age when difficulty with academic learning becomes apparent.
•Some children under age 5 years whose presentation will eventually meet criteria for
intellectual disability have deficits that meet criteria for global developmental delay.
•When intellectual disability is associated with a genetic syndrome, there may be a char-
acteristic physical appearance (as in, e.g., Down syndrome). Some syndromes have a
behavioral phenotype, which refers to specific behaviors that are characteristic of particular
genetic disorder (e.g., Lesch-Nyhan syndrome).
•In acquired forms, the onset may be abrupt following an illness such as meningitis or
encephalitis or head trauma occurring during the developmental period.
When intellectual disability results from a loss of previously acquired cognitive skills, as in
severe traumatic brain injury, the diagnoses of intellectual disability and of a neurocognitive
disorder may both be assigned.
•After early childhood, the disorder is generally lifelong, although severity levels may change
over time.
•Early and ongoing interventions may improve adaptive functioning throughout childhood and
adulthood. In some cases, these result in significant improvement of intellectual functioning,
such that the diagnosis of intellectual disability is no longer appropriate. Thus, it is common
practice when assessing infants and young children to delay diagnosis of intellectual disability
until after an appropriate course of intervention is provided.
•For older children and adults, the extent of support provided may allow for full participation in all
activities of daily living and improved adaptive function.

Risk and Prognostic Factors

• Genetic and physiological- Prenatal etiologies include genetic syndromes (e.g., sequence
variations or copy number variants involving one or more genes; chromosomal disorders),
inborn errors of metabolism, brain malformations, maternal disease (including placental
disease), and environmental influences (e.g., alcohol, other drugs, toxins, teratogens). Perinatal
causes include a variety of labor and delivery-related events leading to neonatal
encephalopathy. Postnatal causes include hypoxic ischemic injury, traumatic brain injury,
infections, demyelinating disorders, seizure disorders (e.g., infantile spasms), severe and
chronic social deprivation, and toxic metabolic syndromes and intoxications (e.g., lead, mercury)

Prevalence-
Has an overall general population prevalence of approximately 1% and Prevalence for severe
intellectual disability is approximately 6 per 1,000.
Males are more likely than females to be diagnosed with both mild (average male:female ratio
1.6:1) and severe (average male:female ratio 1.2:1) forms of intellectual disability.

Differential Diagnosis
• Major and mild neurocognitive disorders- Intellectual disability is categorized as a neuro
developmental disorder and is distinct from the neurocognitive disorders, which are
characterized by a loss of cognitive functioning. Major neurocognitive disorder may cooccur with
intellectual disability (e.g., an individual with Down syndrome who develops Alzheimer’s
disease, or an individual with intellectual disability who loses further cognitive capacity following
a head injury). In such cases, the diagnoses of intellectual disability and neurocognitive disorder
may both be given.
• Communication disorders and specific learning disorder- Do not show defi-
cits in intellectual and adaptive behavior.
• Autism spectrum disorder- Intellectual disability is common among individuals with autism
spectrum disorder. Assessment of intellectual ability may be complicated by social
communication and behavior deficits inherent to autism spectrum disorder, which may interfere
with understanding and complying with test procedures. Appropriate as-
sessment of intellectual functioning in autism spectrum disorder is essential, with reas-
sessment across the developmental period, because IQ scores in autism spectrum disorder
may be unstable, particularly in early childhood.
Comorbidity-
ADHD, ASD, depressive and bipolar disorders; anxiety disorders; stereotypic movement
disorder (with or without self-injurious behavior); impulse-control disorders; and major
neurocognitive disorder. Major depressive disorder may occur throughout the range of severity
of intellectual disability. Self injurious behavior requires prompt diagnostic attention and may
warrant a separate diagnosis of stereotypic movement disorder. Individuals with intellectual
disability, particularly those with more severe intellectual disability, may also exhibit aggression
and disruptive behaviors, including harm of others or property destruction.

ASSESSMENT OF INTELLECTUAL DISABILITY

The assessment of ID involves a comprehensive evaluation of intellectual abilities, adaptive
functioning, developmental history, and potential underlying causes. A multidisciplinary team
often conducts the assessment.
1. Intellectual Functioning
- Evaluated using standardized IQ tests such as:
- Wechsler Intelligence Scale for Children (WISC-V).
- Stanford-Binet Intelligence Scales.
- Intellectual functioning is typically considered impaired if the IQ is below 70 (2 standard
deviations below the mean).

2. Adaptive Functioning
- Assesses practical, social, and conceptual skills required for daily life.
- Tools:
- Vineland Adaptive Behavior Scales (VABS).
- Adaptive Behavior Assessment System (ABAS).
- Focus on functioning in three domains:
- Conceptual skills: Language, literacy, math, problem-solving.
- Social skills: Interpersonal communication, empathy, social judgment.
- Practical skills: Personal care, safety, money management.

3. Developmental History
- Collecting detailed information about the child’s developmental milestones, medical history,
family history, and environmental factors.
- Includes parental or caregiver interviews and reviewing school records.

4. Medical Evaluation
- Identifies potential causes of ID, such as:
- Genetic testing: Identifies conditions like Down syndrome, fragile X syndrome.
- Neurological assessment: Brain imaging (MRI/CT scans) for structural abnormalities.
- Metabolic screening: Detects conditions like phenylketonuria (PKU).

5. Educational and Psychological Assessments

- Assess the child's learning style, strengths, and challenges.
- Helps in identifying co-occurring conditions (e.g., ADHD, autism).
TREATMENT AND INTERVENTION for I.D.
The treatment of ID focuses on improving the individual’s functioning, promoting independence,
and enhancing quality of life. While ID cannot be cured, interventions aim to address intellectual,
adaptive, and co-occurring challenges.

A. Early Intervention
- Importance: Early diagnosis and support are critical to improving developmental outcomes.
- Intervention Services:
- Infant stimulation programs: Promote motor, language, and cognitive development.
- Developmental therapies: Speech therapy, occupational therapy, and physical therapy.

B. Educational Support
- Tailored to the individual’s cognitive and adaptive needs.
1. Individualized Education Program (IEP):
- Customized plans developed for school-aged children with ID.
- Includes specific goals, accommodations, and instructional methods.
- Focuses on both academic and life skills development.
2. Special Education Services:
- Small class sizes with personalized attention.
- Use of visual aids, hands-on activities, and repetition to enhance learning.
3. Inclusive Education:
- Children with mild or moderate ID may benefit from mainstream classrooms with adequate
support.

C. Behavioral Interventions
1. Applied Behavior Analysis (ABA):
- Helps reduce challenging behaviors and teach adaptive skills.
- Reinforcement techniques are used to encourage positive behaviors.
2. Positive Behavioral Interventions and Supports (PBIS):
- Focuses on modifying the environment to reduce triggers for problem behaviors.
- Teaches appropriate alternatives to maladaptive behaviors.
3. Parent and Caregiver Training:
- Teaches strategies for managing behaviors and encouraging independence at home.

D. Skill Development
1. Communication Skills:
- Speech therapy: Enhances language development and communication abilities.
- Use of augmentative and alternative communication (AAC) systems like picture boards or
speech-generating devices for non-verbal individuals.
2. Social Skills Training:
- Helps individuals interact effectively with peers and adults.
- Focuses on understanding social norms, making friends, and problem-solving.
3. Life Skills Training:
- Focuses on practical daily living skills such as personal hygiene, cooking, and money
management.
- Goal: Promote independence and self-sufficiency.

E. Medical and Psychological Interventions

1. Management of Co-occurring Conditions:
- Seizure disorders: Treated with antiepileptic medications.
- Mental health conditions: Anxiety, depression, and ADHD are managed with psychotherapy
and/or medication.
2. Medication:
- No medications directly treat ID, but medications may address:
- Behavioral problems (e.g., aggression, self-injury).
- Sleep disorders.

F. Vocational Training and Transition Support

1. Vocational Training:
- Prepares adolescents and adults with ID for employment by teaching job-specific skills.
- Programs focus on sheltered or supported employment.
2. Transition Support:
- Focuses on helping adolescents move into adulthood.
- Emphasizes independent living, employment, and community participation.

G. Social and Emotional Support

- Family Counseling: Provides emotional support and practical advice for caregivers.
- Peer Support Groups: Encourages social interaction and reduces feelings of isolation for both
individuals with ID and their families.
3. Prognosis
- The outcome for individuals with ID depends on the severity of the condition, the presence of
co-occurring disorders, and the timing and quality of interventions.
- With appropriate support, many individuals with ID can lead fulfilling lives, participate in
employment, and live semi-independently.
SPECIFIC LEARNING DISORDERS (Reading disorder, Spelling Disorder, disorder of
written expression, Arithmetical Disorder)-
These are disorders in which the normal patterns of skill acquisition are disturbed from the early
stages of development. They are not simply a consequence of a lack of opportunity to learn, nor
are they due to any form of acquired brain trauma or disease. Rather, the disorders are thought
to stem from abnormalities in cognitive processing that derive largely from some type of
biological dysfunction.

Diagnostic Criteria
A. Difficulties learning and using academic skills, as indicated by the presence of at least one of
the following symptoms that have persisted for at least 6 months, despite the provision of
interventions that target those difficulties:
1. Inaccurate or slow and effortful word reading (e.g., reads single words aloud incorrectly or
slowly and hesitantly, frequently guesses words, has difficulty sounding out words).
2. Difficulty understanding the meaning of what is read (e.g., may read text accurately but not
understand the sequence, relationships, inferences, or deeper meanings of what is read).
3. Difficulties with spelling (e.g., may add, omit, or substitute vowels or consonants).
4. Difficulties with written expression (e.g., makes multiple grammatical or punctuation errors
within sentences; poor paragraph organization; written expression of ideas lacks clarity).
5. Difficulties mastering number sense, number facts, or calculation (e.g., has poor
understanding of numbers, their magnitude, and relationships; counts on fingers to add
single-digit numbers instead of recalling the math fact as peers do; gets lost in the midst of
arithmetic computation and may switch procedures).
6. Difficulties with mathematical reasoning (e.g., has severe difficulty applying mathematical
concepts, facts, or procedures to solve quantitative problems).

B. The affected academic skills are substantially and quantifiably below those expected for the
individual’s chronological age, and cause significant interference with academic or occupational
performance, or with activities of daily living, as confirmed by individually administered
standardized achievement measures and comprehensive clinical assessment. For individuals
age 17 years and older, a documented history of impairing learning difficulties may be
substituted for the standardized assessment.

C. The learning difficulties begin during school-age years but may not become fully manifest
until the demands for those affected academic skills exceed the individual’s limited capacities
(e.g., as in timed tests, reading or writing lengthy complex reports for a tight deadline,
excessively heavy academic loads).

D. The learning difficulties are not better accounted for by intellectual disabilities, uncorrected
visual or auditory acuity, other mental or neurological disorders, psychosocial adversity, lack of
proficiency in the language of academic instruction, or inadequate educational instruction.
Note: The four diagnostic criteria are to be met based on a clinical synthesis of the individual’s
history (developmental, medical, family, educational), school reports, and psychoeducational
assessment.
Diagnostic Features
SLD includes impairments in one or more of the following domains:
1. Impairment in Reading (Dyslexia)
- Difficulty recognizing words accurately or fluently.
- Poor decoding skills (trouble converting letters into sounds).
- Struggles with spelling and phonological awareness.
- Reading comprehension challenges due to difficulty in word recognition.

2. Impairment in Written Expression (Dysgraphia)

- Poor spelling and grammar.
- Difficulty organizing thoughts coherently in writing.
- Slow and effortful handwriting.
- Frequent errors in sentence structure and punctuation.

3. Impairment in Mathematics (Dyscalculia)

- Difficulty understanding numbers, their magnitude, or relationships.
- Trouble with arithmetic calculations or concepts like addition, subtraction, multiplication, and
division.
- Problems understanding time, measurement, or spatial concepts.
- Difficulty recalling mathematical facts or solving word problems.

ICD FEATURES
F81.0 – Specific Reading Disorder (Dyslexia)
Characterized by a marked impairment in the ability to read and decode words, despite normal
intelligence and adequate instruction. It typically involves difficulties with word recognition,
reading fluency, and comprehension.
● Difficulty recognizing words.
● Problems with reading speed and accuracy.
● Difficulty in decoding words.
● Poor spelling and phonological awareness (the ability to hear and manipulate sounds).
● Struggles with comprehension due to word recognition issues.

F81.1 – Specific Disorder of Writing (Dysgraphia)

Difficulties in handwriting and writing expression. Children with dysgraphia struggle with writing
and organizing written thoughts, affecting both their handwriting skills and written expression
● Illegible or poorly formed handwriting.
● Difficulty in organizing written thoughts.
● Problems with spelling and grammar.
● Slower writing speed, particularly in academic settings.
● Challenges with structuring sentences and paragraphs.
F81.2 – Specific Disorder of Arithmetic (Dyscalculia)
Marked by difficulties in understanding numbers, performing calculations, and solving
mathematical problems. Children with dyscalculia may struggle to grasp basic arithmetic
concepts like addition, subtraction, multiplication, and division.
● Difficulty understanding numbers and their relationships.
● Problems with basic calculations and memorizing math facts.
● Struggles with concepts like time, money, and measurement.
● Difficulty with problem-solving and mathematical reasoning.

F81.3 – Mixed Disorder of Scholastic Skills

This category is used when a child has difficulties in more than one academic area (e.g.,
reading, writing, and mathematics), but these difficulties are not explained by intellectual
disability or other medical conditions.
● A combination of difficulties in reading, writing, and math.
● The child may experience delays or challenges in multiple academic domains, often
affecting overall academic performance.

Diagnostic Features of Specific Learning Disorders in ICD-10

Onset in Early Childhood: These disorders are typically noticed in early school years when
academic expectations increase. Challenges are evident in school performance relative to age
and intellectual abilities.
Exclusion Criteria: For the diagnosis of a specific learning disorder, there must be clear
evidence of academic difficulty that is not caused by:
● Intellectual disability (F70-F79)
● Visual or hearing impairments
● Lack of exposure to an adequate language environment or edu. Opportunity
● Emotional disturbances (e.g., anxiety or depression)

Functional Consequences-
Specific learning disorder can have negative functional consequences across the lifespan-
● lower academic attainment
● higher rates of high school dropout
● lower rates of postsecondary education
● high levels of psychological distress and poorer overall mental health
● higher rates of unemployment and under-employment, and lower incomes.

Causes and Risk Factors

1. Biological Factors
- Genetics: Family studies show that SLDs run in families. The relative risk of specific learning
disorder in reading or mathematics is substantially higher (e.g., 4–8 times and 5–10 times
higher, respectively) in first-degree relatives of individuals with these learning difficulties
compared with those without them.
- Neurological factors: Abnormal brain structure or function in regions associated with language
processing (e.g., left hemisphere for dyslexia) or numerical cognition (e.g., intraparietal sulcus
for dyscalculia).

2. Environmental Factors
- Prematurity or very low birth weight.
- Prenatal influences: Exposure to toxins, maternal smoking, or malnutrition during pregnancy.
- Early life experiences: Lack of early literacy exposure or poor-quality schooling.

3. Cognitive Factors
- Deficits in specific cognitive processes:
- Phonological processing: Common in dyslexia.
- Working memory and attention: Impacts both dyslexia and dyscalculia.
- Executive functioning: Affects planning and organization, particularly in written expression.

Prevalence
- Overall prevalence: SLD affects approximately 5-15% of school-aged children globally.
- Gender differences: More common in boys than girls, with a rate of approximately 2:1 to 3:1.

Prognosis
- Early intervention is key to improving academic skills and reducing the impact of SLD. While
most individuals with SLD will face challenges throughout their lives, with proper support, they
can achieve academic and professional success.
- Ongoing support and accommodations in school and work settings are often necessary.

Differential Diagnosis
• Normal variations in academic attainment- Specific learning disorder is distinguished from
normal variations in academic attainment due to external factors (e.g., lack of educational
opportunity, consistently poor instruction, learning in a second language), because the learning
difficulties persist in the presence of adequate educational opportunity.
• Intellectual disability- Specific learning disorder differs from general learning difficulties
associated with intellectual disability, because the learning difficulties occur in the presence of
normal levels of intellectual functioning (i.e., IQ score of at least 70 ± 5).
• Learning difficulties due to neurological or sensory disorders- Specific learning disorder is
distinguished from learning difficulties due to neurological or sensory disorders (e.g., pediatric
stroke, traumatic brain injury, hearing impairment, vision impairment), because in these cases
there are abnormal findings on neurological examination.
• Neurocognitive disorders- Specific learning disorder is distinguished from learning problems
associated with neurodegenerative cognitive disorders, because in specific learning disorder the
clinical expression of specific learning difficulties occurs during the developmental period, and
the difficulties do not manifest as a marked decline from a former state.

Comorbidity
ADHD, anxiety disorders, or speech and language disorders.
 Assessment of Specific Learning Disorders
The diagnosis of SLD requires a detailed assessment involving multiple sources of information,
including the child, parents, and teachers.
1. Comprehensive Evaluation
- Developmental and medical history: Identifies any early developmental delays or risk factors.
- Observation: Classroom and home observations to assess functional impact.

2. Standardized Testing
- Achievement tests: Compare the child’s performance in reading, writing, and mathematics to
age-appropriate norms (e.g., Woodcock-Johnson Tests, WIAT-III).
- IQ testing: Rules out general intellectual disability (e.g., WISC-V).

3. Cognitive and Psychological Assessments

- Phonological processing: Assessing sound recognition and manipulation for dyslexia.
- Executive functioning: Measuring skills like organization and planning.
- Working memory tests: Evaluating short-term memory's role in mathematical reasoning or
writing.

4. Exclusion Criteria
SLD is diagnosed when learning difficulties are not caused by:
- Intellectual disability.
- Visual or hearing impairments.
- Socio-economic disadvantage.
- Lack of exposure to education.

Intervention and Treatment for SLD

Interventions for SLD are most effective when tailored to the individual’s specific needs and
challenges. Early identification and remediation are crucial for improving outcomes.

1. Academic Interventions
- Reading interventions: Structured literacy programs (e.g., Orton-Gillingham, Lindamood-Bell)
for phonics and decoding.
- Writing interventions: Focus on improving spelling, grammar, and organization through
step-by-step instructions.
- Mathematical interventions: Use of visual aids, hands-on materials, and specialized programs
(e.g., Number Sense or Math-U-See).

2. Specialized Education Plans

- Individualized Education Plans (IEPs): Legal documents in some countries outlining tailored
academic accommodations.
- 504 Plans: Focused on providing access to learning without changing academic expectations.
3. Assistive Technologies
- Speech-to-text software: For students with dysgraphia.
- Audiobooks and text readers: For students with dyslexia.
- Calculators and math apps: For students with dyscalculia.

4. Cognitive and Behavioral Support

- Memory training: Strategies to improve working memory (e.g., chunking, mnemonics).
- Executive function coaching: To help with organization and task management.

5. Teacher and Parent Training

- Teachers are trained to use differentiated instructional techniques, and parents are guided on
how to support their child’s learning at home.

6. Psychological Support
- Addressing emotional or behavioral difficulties, such as low self-esteem or anxiety, which are
common in children with SLD.
PERVASIVE DEVELOPMENTAL DISORDERS (Autism, Asperger’s Disorder, Rett’s
Disorder, Childhood Disintegrative Disorder, PDD NOS)

Pervasive Developmental Disorders (PDDs) are a group of neurodevelopmental conditions

characterized by significant challenges in social interaction, communication, and behavior.
These disorders typically manifest in early childhood and are lifelong in nature, often affecting a
child's ability to engage with others, learn, and navigate daily activities. PDDs encompass a
spectrum of severity, from individuals with severe developmental delays and limited verbal
communication to those with high-functioning autism who may have fewer challenges but still
experience difficulties with social and communication skills. The core features of PDDs include
restricted, repetitive patterns of behavior, interests, or activities, as well as difficulties in
understanding social cues and maintaining reciprocal relationships.

1) Autism 299.00 (F84.0)-

Prevalence-
Approximately 1 in 36 children in the United States, according to recent data from the Centers
for Disease Control and Prevention (CDC) (2023). This figure represents about 2.8% of the
population, indicating a significant increase in diagnosed cases over the past few decades.
- Global prevalence: Rates of autism vary worldwide, but estimates generally range from 1-2%
of the population and is more common in males than in females, with a ratio of about 4:1.
- Age of diagnosis: Most children are diagnosed by age 4, though some may be diagnosed later,
particularly those with milder symptoms.

Diagnostic Features-
Manifestations of the disorder vary greatly depending on the severity of the autistic condition,
developmental level, and chronological age; hence, the term spectrum. Autism spectrum
disorder encompasses disorders previously referred to as early infantile autism, childhood
autism, Kanner’s autism, high-functioningxautism, atypical autism, pervasive developmental
disorder not otherwise specified, childhood disintegrative disorder, and Asperger’s disorder.

The impairments in communication and social interaction specified in Criterion A are

pervasive and sustained. Verbal and nonverbal deficits in social communication have varying
manifestations, depending on the individual’s age, intellectual level, and language ability,
as well as other factors such as treatment history and current support.
Many individuals have language deficits, ranging from complete lack of speech through
language delays, poor comprehension of speech, echoed speech, or stilted and overly literal
language. Even when formal language skills (e.g., vocabulary, grammar) are intact, the use of
language for reciprocal social communication is impaired in autism spectrum disorder.
Deficits in social-emotional reciprocity (i.e., the ability to engage with others and share thoughts
and feelings) are clearly evident in young children with the disorder, who may show little or no
initiation of social interaction and no sharing of emotions, along with reduced or absent imitation
of others’ behavior.
Deficits in nonverbal communicative behaviors used for social interaction are manifested by
absent, reduced, or atypical use of eye contact (relative to cultural norms), gestures, facial
expressions, body orientation, or speech intonation.
An early feature of autism spectrum disorder is impaired joint attention as manifested by a lack
of pointing, showing, or bringing objects to share interest with others, or failure to follow
someone’s pointing or eye gaze. Individuals may learn a few functional gestures, but their
repertoire is smaller than that of others, and they often fail to use expressive gestures
spontaneously in communication.
Deficits in developing, maintaining, and understanding relationships should be
judged against norms for age, gender, and culture. There may be absent, reduced, or atypical
social interest, manifested by rejection of others, passivity, or inappropriate approaches that
seem aggressive or disruptive. These difficulties are particularly evident in young children, in
whom there is often a lack of shared social play and imagination (e.g., age-appropriate flexible
pretend play) and, later, insistence on playing by very fixed rules. There may be an apparent
preference for solitary activities or for interacting with much younger or older people. Frequently,
there is a desire to establish friendships without a complete or realistic idea of what friendship
entails (e.g., one-sided friendships or friendships based solely on shared special interests).

Stereotyped or repetitive behaviors include simple motor stereotypies (e.g., hand flapping, finger
flicking), repetitive use of objects (e.g., spinning coins, lining up toys), and repetitive speech
(e.g., echolalia, the delayed or immediate parroting of heard words; use of “you” when referring
to self; stereotyped use of words, phrases, or prosodic patterns).

Excessive adherence to routines and restricted patterns of behavior may be manifest in

resistance to change (e.g., distress at apparently small changes, such as in packaging of a
favorite food; insistence on adherence to rules; rigidity of thinking) or ritualized patterns of verbal
or nonverbal behavior (e.g., repetitive questioning, pacing a perimeter).

Some fascinations and routines may relate to apparent hyper or hyporeactivity to sensory input,
manifested through extreme responses to specific sounds or textures, excessive smelling or
touching of objects, fascination with lights or spinning objects, and sometimes apparent
indifference to pain, heat, or cold. Extreme reaction to or rituals involving taste, smell, texture, or
appearance of food or excessive food restrictions are common and may be a presenting feature
of autism spectrum disorder.

Associated Features-
Many individuals with autism spectrum disorder also have intellectual impairment and language
impairment (e.g., slow to talk, language comprehension behind production). Even
those with average or high intelligence have an uneven profile of abilities. Motor deficits
including odd gait, clumsiness and other abnormal motor signs (walking on tiptoes).
Self injury (e.g., head banging, biting the wrist) may occur, and disruptive/challenging behaviors
are more common in children and adolescents with autism spectrum disorder than other
disorders, including intellectual disability.
Adolescents and adults with autism spectrum disorder are prone to anxiety and depression.
Functional consequences-
In young children with autism spectrum disorder, lack of social and communication abilities may
hamper learning, especially learning through social interaction or in settings with peers. In the
home, insistence on routines and aversion to change, as well as sensory sensitivities, may
interfere with eating and sleeping and make routine care (e.g., haircuts, dental work) extremely
difficult.
Adaptive skills are typically below measured IQ.
Extreme difficulties in planning, organization, and coping with change negatively impact
academic achievement, even for students with above-average intelligence.

Development and Course-

The age and pattern of onset should be noted for autism spectrum disorder. Symptoms are
typically recognized during the second year of life (12–24 months of age) but may be seen
earlier than 12 months if developmental delays are severe, or noted later than 24 months if
symptoms are more subtle.

Symptoms are often most marked in early childhood and early school years, with developmental
gains typical in later childhood in at least some areas (e.g., increased interest in social
interaction). A small proportion of individuals deteriorate behaviorally during adolescence,
whereas most others improve.
Individuals with lower levels of impairment may be better able to function independently.
However, even these individuals may remain socially naive and vulnerable, have difficulties
organizing practical demands without aid, and are prone to anxiety and depression.
Many adults report using compensation strategies and coping mechanisms to mask their
difficulties in public but suffer from the stress and effort of maintaining a socially accept-
able facade.

The behavioral features of autism spectrum disorder first become evident in early childhood,
with some cases presenting a lack of interest in social interaction in the first year of life. Some
children with autism spectrum disorder experience developmental regression, with a gradual or
relatively rapid deterioration in social behaviors or use of language, often during the first 2 years
of life. Such losses are rare in other disorders and may be a useful “red flag” for ASD.
First symptoms of autism spectrum disorder frequently involve delayed language development,
often accompanied by lack of social interest or unusual social interactions (e.g.,
pulling individuals by the hand without any attempt to look at them), odd play patterns
(e.g., carrying toys around but never playing with them), and unusual communication
patterns (e.g., knowing the alphabet but not responding to own name.
During the second year, odd and repetitive behaviors and the absence of typical play become
more apparent. Since many typically developing young children have strong preferences and
enjoy repetition (e.g., eating the same foods, watching the same video multiple times),
distinguishing restricted and repetitive behaviors that are diagnostic of autism spectrum disorder
can be difficult in preschoolers.
Scarcely anything is known about old age in autism spectrum disorder.
Risk and Prognostic Factors
• Presence or absence of associated intellectual disability and language impairment (e.g.,
functional language by age 5 years) is a good prognostic sign.
• Environmental- A variety of nonspecific risk factors, such as advanced parental age, low birth
weight, or fetal exposure to valproate, may contribute to risk of autism spectrum disorder.
• Genetic and physiological- Heritability estimates for autism spectrum disorder have
ranged from 37% to higher than 90%, based on twin concordance rates. Currently, as many
as 15% of cases of autism spectrum disorder appear to be associated with a known genetic
mutation.

Differential Diagnosis
• Rett syndrome- After period of Disruption of social interaction may be observed during the
regressive phase of Rett syndrome, most individuals with Rett syndrome improve their social
communication skills, and autistic features are no longer a major area of concern. Consequently,
autism spectrum disorder should be considered only when all diagnostic criteria are met.
• Selective mutism- In selective mutism, early development is not typically disturbed.
The affected child usually exhibits appropriate communication skills in certain contexts and
settings. Even in settings where the child is mute, social reciprocity is not impaired, nor are
restricted or repetitive patterns of behavior present.
• Language disorders and social (pragmatic) communication disorder- Not usually associated
with abnormal nonverbal communication, nor with the presence of restricted, repetitive patterns
of behavior, interests, or activities.
• Intellectual disability without autism spectrum disorder- Intellectual disability without autism
spectrum disorder may be difficult to differentiate from autism spectrum disorder in very young
children. Individuals with in-
•tellectual disability- intellectual disability is the appropriate diagnosis when there is no apparent
discrepancy between the level of social-communicative skills and other intellectual skills.
• Attention-deficit/hyperactivity disorder- A diagnosis of ADHD should be
considered when attentional difficulties or hyperactivity exceeds that typically seen in in-
dividuals of comparable mental age.
• Schizophrenia- Usually develops after a period of normal, or near normal, development.
Hallucinations and delusions, which are defining features of schizophrenia, are not features of
autism spectrum disorder.

Comorbidity-
Intellectual impairment and structural language disorder (i.e., an inability to comprehend and
construct sentences with proper grammar), anxiety disorders, depressive disorders, epilepsy,
sleep problems, Avoidant-restrictive food intake disorder

Diagnostic Criteria-
A. Persistent deficits in social communication and social interaction across multiple contexts, as
manifested by the following, currently or by history- (Examples are illustrative not exhaustive)
1. Deficits in social-emotional reciprocity, ranging, for example, from abnormal social approach
and failure of normal back-and-forth conversation; to reduced sharing of interests, emotions, or
affect; to failure to initiate or respond to social interactions.
2. Deficits in nonverbal communicative behaviors used for social interaction, ranging, for
example, from poorly integrated verbal and nonverbal communication; to abnormalities in eye
contact and body language or deficits in understanding and use of gestures; to a total lack of
facial expressions and nonverbal communication.
3. Deficits in developing, maintaining, and understanding relationships, ranging, for example,
from difficulties adjusting behavior to suit various social contexts; to difficulties in sharing
imaginative play or in making friends; to absence of interest in peers.
Specify current severity:
Severity is based on social communication impairments and restricted, repetitive patterns of
behavior.

B. Restricted, repetitive patterns of behavior, interests, or activities, as manifested by atleast two

of the following, currently or by history-
1. Stereotyped or repetitive motor movements, use of objects, or speech (e.g., simple motor
stereotypies, lining up toys or flipping objects, echolalia, idiosyncratic phrases).
2. Insistence on sameness, inflexible adherence to routines, or ritualized patterns of verbal or
nonverbal behavior (e.g., extreme distress at small changes, difficulties with transitions, rigid
thinking patterns, greeting rituals, need to take same route or eat same food every day).
3. Highly restricted, fixated interests that are abnormal in intensity or focus (e.g., strong
attachment to or preoccupation with unusual objects, excessively circum scribed or
perseverative interests).
4. Hyper or hyporeactivity to sensory input or unusual interest in sensory aspects of the
environment (e.g., apparent indifference to pain/temperature, adverse response to specific
sounds or textures, excessive smelling or touching of objects, visual fascination with lights or
movement).
Specify current severity:
Severity is based on social communication impairments and restricted, repetitive patterns of beh

C. Symptoms must be present in the early developmental period (but may not become
fully manifest until social demands exceed limited capacities, or may be masked by
learned strategies in later life).
D. Symptoms cause clinically significant impairment in social, occupational, or other im-
portant areas of current functioning.
E. These disturbances are not better explained by intellectual disability or global developmental
delay. Intellectual disability and ASD frequently co-occur; to make comorbid diagnoses of autism
spectrum disorder and intellectual disability, social communication should be below that
expected for general developmental level.
Note: Individuals who have marked deficits in social communication, but whose symptoms do
not otherwise meet criteria for ASD, should be evaluated for social communication disorder.
Specify if:
With or without accompanying intellectual impairment
With or without accompanying language impairment

ICD-
Autism Spectrum Disorder (ASD) is classified under F84 (Pervasive Developmental Disorders).

Key Features of Autism (F84.0) in ICD-10:

1. Impairment in Social Interaction
- Deficits in social reciprocity: Difficulty in understanding and responding to social cues (e.g.,
difficulty making eye contact, initiating or sustaining conversations).
- Lack of interest in social interactions: Children with autism may show little interest in interacting
with peers or adults, often preferring to be alone.
- Failure to develop peer relationships: Difficulty in understanding social rules, which affects the
development of friendships or appropriate interactions with others.

2. Impairment in Communication
- Delayed speech and language development: Some children with autism may not develop
speech at all, while others may have significant delays in language acquisition.
- Non-functional speech: Even if speech develops, it may be used in an odd or repetitive way
(e.g., echolalia—repeating words or phrases heard from others).
- Difficulty with non-verbal communication: Children with autism may have trouble with body
language, facial expressions, and gestures, making it difficult to express themselves and
understand others.

3. Restricted and Repetitive Patterns of Behavior

- Stereotyped movements: These can include hand-flapping, rocking, or other repetitive physical
movements.
- Insistence on sameness: Children may become distressed by changes in routine or
environment, preferring strict routines and rituals.
- Intense focus on specific interests: Children with autism may exhibit intense preoccupations
with certain topics or objects, often to the exclusion of other activities or interests.
- Unusual sensory responses: Overreaction or underreaction to sensory stimuli such as lights,
sounds, textures, or smells. This may include fascination with lights or repetitive sensory
behaviors (e.g., spinning objects).

4. Developmental Onset and Impairments in Adaptive Functioning

- Symptoms of autism are typically present before the age of 3 years and must be observed
across a range of developmental areas, including communication, social interaction, & behavior.
- Individuals with autism may have difficulties in daily living skills, including self-care, dressing,
or engaging in activities appropriate to their age.
2) Asperger’s Disorder-
milder symptoms of autism.
Asperger's Disorder, now generally referred to as Asperger's Syndrome, was once
considered a distinct diagnosis under the category of Pervasive Developmental Disorders
(PDDs) in the DSM-IV (Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition).
However, in the DSM-5, it was removed as a separate diagnosis and integrated into the
broader category of Autism Spectrum Disorder (ASD). The diagnostic criteria and features for
Asperger's Disorder, as described in DSM-IV and ICD-10, emphasize social communication
difficulties, restricted patterns of behavior, and average to above-average intelligence
without significant delays in language development. Asperger's Disorder is typically diagnosed
in childhood, often when children begin to struggle with social interactions and communication
during early school years.

Diagnosis and Classification in ICD-10

In the ICD-10, Asperger's Disorder is classified under the broader category of Pervasive
Developmental Disorders (PDD), specifically as F84.5 - Asperger’s Syndrome. The
diagnostic features are similar to those in the DSM-IV but with a greater emphasis on the
absence of language delay and cognitive impairment. The criteria include:

● Impairment in social interaction: Difficulty forming social relationships and

understanding social rules.
● Restricted and repetitive behaviors: Intense focus on specific interests and rigid
adherence to routines.
● Normal intellectual functioning and language development: The child or individual
demonstrates typical intellectual development and language skills, although there maybe
social and emotional challenges.

Asperger's Syndrome and Autism Spectrum Disorder (ASD) are both part of the same spectrum
of neurodevelopmental disorders, but there are key differences between the two. The primary
distinction lies in the severity and onset of symptoms.

Individuals with Asperger's typically have average or above-average intelligence and normal
language development, with language skills developing on time or even early, unlike those with
more severe forms of autism who may experience significant delays in speech and comm. The
social communication difficulties in Asperger's are often more subtle and typically involve
challenges in understanding social cues, forming relationships, and engaging in reciprocal
conversation, without the more overt communication delays seen in other forms of autism.

Additionally, individuals with Asperger’s may have intense restricted interests and exhibit
repetitive behaviors, but these tend to be less pronounced compared to individuals with more
severe autism. In contrast, autism often encompasses a broader range of symptoms, including
severe language delays, intellectual disabilities, and more noticeable behavioral challenges,
with a broader spectrum of severity.

Treatment and Intervention

Early intervention is crucial for individuals with Asperger’s Syndrome, as it can help them
develop social, communication, and coping skills. Common interventions include:

● Behavioral Therapy (e.g., Applied Behavior Analysis, or ABA): Focuses on teaching

new skills and behaviors while reducing challenging behaviors.
● Social Skills Training: Helps individuals learn how to interact appropriately with peers
and adults in social situations.
● Cognitive Behavioral Therapy (CBT): Addresses anxiety, obsessive behaviors, and
other emotional challenges.
● Speech and Language Therapy: Focuses on improving pragmatic language skills (how
to use language in social contexts).

Prognosis

● Varied Outcomes: Individuals with Asperger’s often have a good prognosis with
appropriate support. Many individuals can live independently, pursue successful careers,
and engage in meaningful social relationships.
● Ongoing Challenges: Despite these strengths, challenges in social communication,
emotional regulation, and sensory processing may persist into adulthood.

Conclusion

Asperger’s Syndrome, now integrated into Autism Spectrum Disorder (ASD), is characterized by
social communication difficulties, restricted interests, and normal cognitive and language
development. Though it has been absorbed into the ASD category in modern diagnostic
frameworks, it remains a key part of understanding autism's spectrum, especially in individuals
who are high-functioning. Early diagnosis and tailored interventions are crucial to improving
quality of life and helping individuals with Asperger's lead successful and fulfilling lives.

3) Rett’s Disorder-
Rett's Disorder, also known as Rett Syndrome, is a rare, neurodevelopmental disorder that
primarily affects females and is characterized by a period of normal development followed by a
loss of motor, communication, and social skills. It was first identified by Austrian neurologist
Andreas Rett in 1966 and is now classified in the ICD-10 (F84.2) under Pervasive
Developmental Disorders. Rett syndrome is primarily caused by mutations in the MECP2 gene
located on the X chromosome, and it is considered a genetic disorder.

Key Features of Rett's Disorder-

1. Normal Development Initial Phase (0–6 Months)

- Normal early development: In the early months, infants with Rett's syndrome usually develop
normally in terms of motor skills, social interactions, and language. Milestones such as motor
milestones (e.g., crawling, walking) and communication skills (e.g., smiling, eye contact) are
typically reached within the expected time frame.
- No immediate concerns: Parents may not notice any abnormalities initially, and the child may
appear to be developing like other children of the same age.

2. Regression Phase (6–18 Months)

- Loss of skills: This phase is typically marked by a regression in motor, language, and social
skills that occurs between 6 to 18 months of age. This is the hallmark feature of Rett syndrome.
- Loss of purposeful hand movements: Infants begin to lose purposeful movements (e.g.,
reaching or grasping) and may develop repetitive hand movements such as wringing, clapping,
or hand-to-mouth motions.
- Loss of speech: The child begins to lose the ability to communicate and may stop speaking or
regress in language skills.
- Loss of social engagement: Children with Rett syndrome may begin to withdraw socially,
losing interest in interacting with others, which is a contrast to their earlier social engagement.
- Loss of motor coordination: There may be a loss of motor skills, including the ability to sit,
walk, or use fine motor skills, along with the development of ataxia (uncoordinated movements)
and muscle weakness.

3. Plateau Phase (2–10 Years)

- Stabilization: After the initial period of regression, children with Rett syndrome may experience
a plateau phase, during which the rate of skill loss stabilizes.
- Motor function: Some children may develop a degree of motor ability, such as improved hand
movements (though often stereotyped), sitting or standing, and in some cases, limited walking.
- Social interaction: Social abilities may stabilize or improve slightly. Some children can engage
in social activities, but typically with significant limitations.
- Communication: While verbal communication may be absent or severely limited, some
children may retain non-verbal communication, such as making eye contact, using gestures, or
showing emotional responses.

4. Deceleration Phase (Adolescence and Beyond)

- Deterioration in motor and cognitive abilities: As individuals with Rett syndrome age, they may
experience a gradual decline in motor and cognitive abilities. This phase often involves
increasing muscle stiffness, scoliosis (curvature of the spine), seizures, and respiratory
problems.
- Continued intellectual impairment: Intellectual disability is generally severe to profound, and
most individuals with Rett syndrome are unable to develop significant communication or
independent living skills.

Key Symptoms and Characteristics of Rett Syndrome-

1. Motor Abnormalities
- Repetitive Hand Movements: One of the most distinguishing features of Rett syndrome is the
development of repetitive hand movements, such as wringing, clapping, or tapping, which
replace purposeful hand use.
- Loss of Motor Skills: This includes the loss of the ability to perform fine and gross motor skills,
such as sitting, crawling, or walking. Most individuals with Rett syndrome will never regain these
lost skills.
- Gait abnormalities: Some individuals may develop ataxia, which is characterized by
uncoordinated movements, and gait abnormalities, including difficulty walking or walking on
tiptoes.
- Scoliosis: Many individuals develop scoliosis or curvature of the spine as they grow older.

2. Social and Communication Challenges

- Social Withdrawal: After the initial period of normal development, individuals with Rett
syndrome often show diminished social engagement and may become more withdrawn or
isolated.
- Loss of Speech: Most individuals with Rett syndrome lose the ability to speak after the first
year or so, although some retain the ability to use gestures, make eye contact, or display
emotional responses.
- Receptive Language: While expressive language (speech) is typically lost, many individuals
can still understand language to some extent and respond to emotional cues.

3. Intellectual and Cognitive Impairments

- Severe Intellectual Disability: Rett syndrome leads to significant intellectual impairment, and
most individuals with the disorder have profound developmental disabilities.
- Reduced Cognitive Function: Cognitive abilities are typically not recoverable, and intellectual
functioning is usually in the range of severe to profound intellectual disability.

4. Seizures
- Epilepsy is common in individuals with Rett syndrome, affecting around 50-90% of individuals.
Seizures often begin after the onset of regression, and can become more frequent with age.

5. Respiratory Problems
- Individuals with Rett syndrome may experience breathing irregularities, such as
hyperventilation (fast, shallow breathing) or hypoventilation (slow, shallow breathing), especially
during sleep.

6. Autonomic Nervous System Disturbances

- Rett syndrome can affect the autonomic nervous system, leading to issues such as irregular
heart rate, blood pressure instability, or sleep disturbances.

Genetic Causes
Rett syndrome is most commonly caused by mutations in the MECP2 gene located on the X
chromosome. The MECP2 gene is involved in regulating the expression of other genes, and
mutations in this gene impair brain development.
- Inheritance: Rett syndrome is typically an X-linked dominant disorder, meaning it primarily
affects females. Males with the mutation often do not survive infancy due to the severity of the
disorder.
- MECP2 Mutation: In about 95% of cases, Rett syndrome is caused by spontaneous mutations
in the MECP2 gene, and in rare cases, it can be inherited from a parent.

Management and Treatment

While there is no cure for Rett syndrome, treatment is symptom-based and focuses on
improving the quality of life and managing associated health problems. Key interventions
include:
- Physical Therapy: To improve motor function, prevent contractures (muscle shortening), and
enhance mobility.
- Speech Therapy: Focuses on developing alternative communication methods, such as the use
of gestures, sign language, or communication devices.
- Behavioral Therapy: To help manage behavioral issues and improve social skills.
- Seizure Management: Antiepileptic drugs are commonly used to manage seizures.
- Respiratory Support: Management of breathing difficulties, especially during sleep.
- Supportive Care: Includes addressing nutritional needs, gastrointestinal problems, and
managing scoliosis.

Prognosis
The prognosis for individuals with Rett syndrome is variable, but the disorder typically leads to a
lifelong disability. As the child ages, they may experience more severe motor and cognitive
impairments. Life expectancy can vary, with many individuals living into their 40s or 50s, though
this is dependent on the severity of the symptoms and the presence of other health
complications.

4) Childhood disintegrative disorder -

Childhood Disintegrative Disorder (CDD), also known as Heller’s Syndrome, is a rare and
severe neurodevelopmental disorder characterized by a significant regression in multiple areas
of development after a period of normal development. It is classified as one of the Pervasive
Developmental Disorders (PDDs) in the ICD-10 (F84.3) and was previously included in DSM-IV
as a distinct condition, but in the DSM-5, it is now considered part of the Autism Spectrum
Disorder (ASD) spectrum under the umbrella of PDDs.

The hallmark of Childhood Disintegrative Disorder is regression—the loss of previously acquired

skills in areas such as social, communication, motor, and adaptive behaviors. This condition
typically occurs after at least two years of normal development, making it distinct from other
developmental disorders such as autism, where symptoms are present from an early age.

Key Features of Childhood Disintegrative Disorder (CDD)

According to both the ICD-10 and the DSM-IV (prior to DSM-5 revision), the diagnostic criteria
for Childhood Disintegrative Disorder include:

1. Normal Early Development

- Normal Development Until Age 2-4: The child initially develops along typical lines, reaching
milestones such as walking, speaking, and socializing. Development is generally normal up to
age 2, and in some cases, even up to age 3-4.
- At this point, children show delayed but stable development, often exhibiting regular
milestones in language, social interaction, motor skills, and adaptive behavior.

2. Significant Regression After Initial Development

- Loss of Skills: After a period of normal development, children with CDD begin to lose skills that
they had previously mastered. This regression is a central feature of the disorder. The child may
lose skills in several areas, including:
- Language: Loss of verbal and non-verbal communication abilities, including speech,
gestures, and social language.
- Social Skills: Significant loss in social interactions and a lack of interest in forming social
bonds or interacting with others.
- Motor Skills: The child may lose previously acquired motor skills, such as walking or using
fine motor skills for activities like feeding or dressing.
- Adaptive Behavior: Skills necessary for daily life, such as toileting, dressing, and self-care,
can also regress.

3. Onset Between Age 3 and 4

- Developmental Regressions are typically noticeable after the age of 2 years. The regression is
usually most noticeable around the ages of 3 to 4 years, although the timing of the onset can
vary slightly.

4. Delayed or Absent Language Development

- Loss of Language: One of the most striking features of CDD is the loss of language skills,
which may manifest as a decline in spoken words or complete loss of speech, affecting both
expressive and receptive language abilities.
- Children may become mute or have very limited language capabilities after initially developing
normal language skills.

5. Impairments in Social Functioning

- Severe Social Withdrawal: Children with CDD lose their ability to engage in social interactions.
They may become withdrawn and exhibit little interest in socializing or forming relationships.
- They may no longer seek comfort from caregivers or respond to emotional cues from others,
showing little to no concern for social bonding or communication.

6. Restricted and Repetitive Behaviors

- Behavioral Regression: Similar to children with autism, children with CDD may develop
restricted and repetitive behaviors. These can include:
- Repetitive movements (e.g., hand-flapping, rocking)
- Inflexibility in routines and rituals
- Intense interest in specific objects or topics, often with a narrow focus.

7. Intellectual and Cognitive Decline

- Intellectual Disabilities: Intellectual functioning may decline after the regression of skills. Many
children with CDD eventually meet criteria for intellectual disability, and in many cases, the
decline in cognitive functioning is significant.
- However, it is important to note that the degree of intellectual disability can vary between
individuals.

8. Behavioral and Emotional Symptoms

- Other Issues: Children with CDD may also show signs of anxiety, irritability, aggression, or
self-injurious behavior. These can appear as the child becomes more distressed due to the loss
of previously learned skills and increasing social isolation.

Diagnosis of Childhood Disintegrative Disorder

To diagnose Childhood Disintegrative Disorder (according to ICD-10 and the DSM-IV), clinicians
typically use a combination of:
- Developmental history: A comprehensive developmental history, including milestones of early
childhood, is crucial in identifying the onset of the disorder.
- Observation and assessment: Direct observation of the child's behavior, communication skills,
and social interactions are key components of the assessment.
- Standardized tools: Tools like the Autism Diagnostic Observation Schedule (ADOS) or Autism
Diagnostic Interview-Revised (ADI-R) may be used to observe symptoms and rule out other
conditions.

Prevalence
- Rarity: Childhood Disintegrative Disorder is extremely rare, with fewer than 1 in 100,000
children affected. It is considered one of the least common of the Pervasive Developmental
Disorders.
- Gender differences: Like other autism spectrum disorders, CDD is more commonly diagnosed
in males than females, with a male-to-female ratio of about 4:1.
- Age of onset: The disorder typically emerges in children aged 3-4 years, following a period of
normal development.

Differential Diagnosis
CDD must be distinguished from other developmental disorders, especially autism spectrum
disorder (ASD), intellectual disabilities, and regressive psychotic disorders. Some key points of
differentiation include:
- Autism: In autism, social and communicative difficulties are present from the early
developmental period, while in CDD, these issues appear after a period of normal development.
- Intellectual Disabilities: CDD involves a sudden loss of skills, whereas intellectual disabilities
are characterized by a more gradual developmental delay.

Treatment and Intervention

There is no cure for Childhood Disintegrative Disorder, but early intervention and support can
help manage the symptoms and improve the quality of life for affected children. Interventions
typically include:
- Behavioral therapies: Similar to autism, intensive applied behavior analysis (ABA) is often
used to help children regain some skills.
- Speech therapy: Speech therapy may help children with language skills, though many children
with CDD may lose speech entirely.
- Occupational therapy: Helps address motor delays and improve fine and gross motor skills.
- Social skills training: Intervention may focus on teaching social skills and emotional regulation.
- Family support and counseling: Supporting families through counseling, education, and
training is vital for helping caregivers manage the challenges of CDD.

Medications may be prescribed for symptoms such as anxiety, aggression, or self-injury, though
no medications are specific to treating CDD itself.

Prognosis
The prognosis for children with Childhood Disintegrative Disorder is generally poor, particularly
because of the severe regression in functioning. Many children continue to experience
significant intellectual and developmental delays throughout their lives, and the loss of
communication and social skills is often permanent. However, with early and sustained
intervention, some children may show mild improvements in certain areas, particularly in
behavioral and adaptive functioning.
 5) Pervasive Developmental Disorder - Not Otherwise Specified
(PDD-NOS)

Pervasive Developmental Disorder - Not Otherwise Specified (PDD-NOS) was previously a

diagnosis in the DSM-IV (Diagnostic and Statistical Manual of Mental Disorders, 4th Edition)
used to describe individuals who exhibited developmental delays or impairments in social,
communication, and behavioral functioning but did not meet the full criteria for other specific
Pervasive Developmental Disorders. However, with the release of the DSM-5 in 2013,
PDD-NOS was eliminated as a standalone diagnosis and is now considered part of the broader
category of Autism Spectrum Disorder (ASD). The reason for this change was to create a more
unified and consistent approach to diagnosing autism-related disorders and to reflect a more
continuum-based understanding of autism.

Characteristics of PDD-NOS in DSM-IV

PDD-NOS was diagnosed when a child showed significant delays or impairments in social
interaction, communication, and/or behavioral flexibility, but did not fully meet the diagnostic
criteria for one of the other specific PDDs. The disorder was often referred to as an “atypical”
autism, and was used when the symptoms did not clearly fit into other established diagnostic
categories.

Key features of PDD-NOS as outlined in the DSM-IV:

1. Impairments in Social Interaction
- PDD-NOS often involved significant difficulties in forming and maintaining social relationships.
- A child with PDD-NOS might exhibit social withdrawal, trouble with joint attention (e.g., failure
to share attention with others or follow someone else’s gaze), or lack of interest in peer
relationships.
- Limited use of social gestures and difficulties understanding social cues (e.g., facial
expressions, body language, tone of voice) could also be present.

2. Impairments in Communication
- Children diagnosed with PDD-NOS might have delayed language development but did not
necessarily show the severe language deficits that are characteristic of Autistic Disorder.
- Speech may be atypical or repetitive (e.g., echolalia or scripted speech), but the child might
have some degree of verbal communication skills.
- However, even when speech developed, it could be socially inappropriate (e.g., difficulty
engaging in reciprocal conversations).

3. Restricted and Repetitive Patterns of Behavior

- Children with PDD-NOS often displayed repetitive behaviors or interests, similar to those seen
in Autism. This could include things like:
- Stereotyped movements (e.g., hand-flapping, rocking).
- Insistence on sameness (e.g., becoming upset when routines or daily activities are changed).
- Focused interests in specific topics or objects.
 4. Criteria for Diagnosis
- Partial criteria for other PDDs: A key feature of PDD-NOS was that the individual’s symptoms
were not fully consistent with the diagnostic criteria for other more clearly defined PDDs such as
Autistic Disorder or Asperger's Disorder. For example, a child might show some autistic
behaviors, but not meet the full set of symptoms required for an autism diagnosis.
- The diagnosis of PDD-NOS was often used for individuals who exhibited subthreshold
autism-like symptoms but still experienced significant functional impairments in social
interaction, communication, and behavior.

5. Severity and Variation

- PDD-NOS was often considered a “catch-all” diagnosis, used for children with mild to
moderate symptoms that didn’t fit into more specific subtypes of autism.
- The severity of symptoms varied widely, with some children exhibiting only mild developmental
delays, while others experienced more significant impairments in functioning.
- Children with PDD-NOS could display a range of cognitive abilities, from intellectual disability
to average or even above-average intelligence.

Transition to Autism Spectrum Disorder (ASD) in DSM-5

In the DSM-5, ASD is characterized by a spectrum of severity based on the level of support
needed in two main areas:
- Social communication and social interaction deficits.
- Restricted and repetitive behaviors.

As a result, many individuals previously diagnosed with PDD-NOS are now diagnosed with
ASD, with their symptoms classified as mild, moderate, or severe based on the degree of
functional impairment.

Assessment and Diagnosis of Former PDD-NOS

When a child previously diagnosed with PDD-NOS is reassessed in the context of DSM-5, they
will now likely receive a diagnosis of ASD with a specified severity level based on:
- Social communication deficits: How much difficulty they experience in social situations.
- Repetitive behaviors: How strongly they exhibit restricted or repetitive behaviors.
- Support needs: The degree of support required to help them manage daily tasks.

Intervention and Support

- Behavioral interventions: The same interventions used for children with ASD, such as Applied
Behavior Analysis (ABA), speech therapy, social skills training, and occupational therapy, apply
to individuals with PDD-NOS.
- Individualized Education Programs (IEPs): Children with PDD-NOS typically benefit from
tailored educational programs to address social, communication, and academic needs.
- Family and caregiver support: As with other forms of autism, family education, and training on
how to support the child’s development, are essential for maximizing the child’s potential.
Assessment of PDD

The assessment of ASD involves a comprehensive process to understand the child's specific
challenges, developmental history, and needs. It typically includes multiple methods, such as
clinical observation, parent/caregiver interviews, and standardized testing.

A. Clinical Interviews
- Developmental History: Information about the child's early developmental milestones (e.g.,
speech and language development, social interactions, play behaviors).
- Parental Input: Parents provide insights into the child's behaviors, communication difficulties,
social interactions, and any concerns regarding developmental delays.

B. Standardized Diagnostic Tools

- Autism Diagnostic Observation Schedule (ADOS-2): A structured, play-based assessment that
measures social communication, behavior, and play. It’s often considered the "gold standard" in
diagnosing autism.
- Autism Diagnostic Interview-Revised (ADI-R): A comprehensive interview used with parents to
gather detailed information about the child's developmental history and behaviors.

C. Observation
- Clinical Observation: Clinicians observe the child’s behavior and interactions in structured and
unstructured settings. Key focus areas include social communication, repetitive behaviors, and
sensory sensitivities.

D. Developmental and Cognitive Assessments

- Cognitive Testing: Standardized IQ tests can help assess the child's intellectual functioning
(e.g., Wechsler Intelligence Scale for Children).
- Language and Speech Assessments: Evaluations of language comprehension, expressive
language, and pragmatics (social use of language).

E. Sensory and Behavioral Assessments

- Sensory Sensitivities: Since many individuals with ASD have sensory processing issues,
sensory assessments may be conducted to understand sensitivities to light, sound, touch, and
movement.
- Behavioral Observations: To assess repetitive behaviors, insistence on sameness, and other
behaviors characteristic of ASD, direct behavioral observations are used.
 Intervention for Pervasive Developmental Disorders-
Interventions for ASD focus on improving communication, social skills, adaptive behavior, and
minimizing challenging behaviors. Early intervention is key to improving long-term outcomes.

A. Early Intervention
- Intensive Behavioral Therapy:
- Applied Behavior Analysis (ABA): ABA is a widely used and evidence-based therapy for
individuals with ASD. It focuses on teaching and reinforcing specific skills (e.g., communication,
social interaction) through positive reinforcement.
- Early Start Denver Model (ESDM): A comprehensive behavioral early intervention for young
children (ages 12–48 months) that combines aspects of ABA with developmental approaches.
- Speech-Language Therapy:
- Communication Development: Focuses on enhancing verbal and non-verbal communication.
Techniques may include using sign language, PECS (Picture Exchange Communication
System), or augmentative and alternative communication (AAC) devices.
- Social Communication Skills: Social-pragmatic language therapy to teach children how to
understand and use language in social contexts.

- Occupational Therapy (OT):

- Sensory Integration Therapy: Aimed at helping children manage sensory sensitivities (e.g.,
sensitivity to light, sound).
- Motor Skills Development: Helps children with ASD develop fine and gross motor skills to
improve their daily functioning.

B. Behavioral and Cognitive Interventions

- Cognitive Behavioral Therapy (CBT): Effective for older children and adolescents, CBT helps
manage anxiety, depression, and challenging behaviors by modifying negative thought patterns
and behaviors.
- Social Skills Training: Structured programs to teach children how to interact with peers, initiate
and maintain conversations, understand social cues, and engage in cooperative play.

C. Parent and Family Involvement

- Parent Training Programs: Parents are trained to implement intervention strategies at home,
reinforcing skills learned in therapy.
- Family Support: Support groups and counseling help families cope with the challenges of
raising a child with ASD. Family members are also educated on managing behavior and
supporting development.

D. Medication Management
While there is no medication specifically for ASD, medications may be prescribed to manage
co-occurring symptoms such as:
- Antipsychotics (e.g., risperidone, aripiprazole) for irritability or aggression.
- Antidepressants for symptoms of anxiety or depression.
- Stimulants for attention and hyperactivity if co-occurring ADHD is present.
 E. Educational Interventions
- Specialized Educational Programs: Children with ASD often benefit from individualized
educational programs (IEPs) tailored to their specific learning needs, including modifications to
the curriculum, structured learning environments, and one-on-one support.
- Inclusive Education: Many children with ASD benefit from being integrated into mainstream
classrooms with support services to encourage socialization and academic achievement.

3. Goal Setting and Progress Monitoring

Intervention goals are individualized based on the child’s needs and abilities. Progress is
regularly monitored through assessments and ongoing observation, adjusting the intervention
plan as needed.

- Measuring Outcomes: The effectiveness of interventions is often assessed by monitoring

changes in behavior, social interactions, communication skills, and academic performance.
- Continuous Support: Ongoing intervention throughout the lifespan (including transition into
adulthood) is important for individuals with ASD to maintain skills and cope with new challenges.
SPECIFIC SPEECH AND LANGUAGE DISORDERS or COMMUNICATION DISORDERS-

Disorders of communication include deficits in language, speech, and communication. These

are disorders in which normal patterns of language acquisition are disturbed from the early
stages of development.

Speech is the expressive production of sounds and includes an individual’s articulation,

fluency, voice, and resonance quality.
Language includes the form, function, and use of a conventional system of symbols (i.e.,
spoken words, sign language, written words, pictures) in a rule-governed manner for
communication.
Communication includes any verbal or nonverbal behavior (whether intentional or unintentional)
that influences the behavior, ideas, or attitudes of another individual.
Dsm- The diagnostic category of communication disorders includes the following:
● language disorder
● speech sound disorder
● childhood-onset fluency disorder (stuttering)
● Social (pragmatic) communication disorder.

1) Language Disorder- 315.32 (F80.2)

Features-
The core diagnostic features of language disorder are difficulties in the acquisition and use
of language due to deficits in the comprehension or production of vocabulary, sentence
structure, and discourse. The language deficits are evident in spoken communication,
written communication, or sign language.
Language learning and use is dependent on both receptive and expressive skills. Expressive
ability refers to the production of vocal, gestural, or verbal signals, while receptive ability refers
to the process of receiving and comprehending language messages. Language skills need to be
assessed in both expressive and receptive modalities as these may differ in severity.

Language disorder usually affects vocabulary. The child’s first words and phrases are likely to
be delayed in onset; vocabulary size is smaller and less varied than expected; and sentences
are shorter and less complex with grammatical errors, especially in past tense. There may be
word-finding problems, impoverished verbal definitions, or poor understanding of synonyms,
multiple meanings, or word play appropriate for age and culture.
Problems with remembering new words and sentences are manifested by difficulties following
instructions of increasing length, difficulties rehearsing strings of verbal information (e.g.,
remembering a phone number or a shopping list), and difficulties remembering novel sound
sequences, a skill that may be important for learning new words. Difficulties with discourse are
shown by a reduced ability to provide adequate information about the key events and to narrate
a coherent story.
Diagnostic Criteria-
A. Persistent difficulties in the acquisition and use of language across modalities (i.e., spoken,
written, sign language, or other) due to deficits in comprehension or production that include the
following:
1. Reduced vocabulary (word knowledge and use).
2. Limited sentence structure (ability to put words and word endings together to form sentences
based on the rules of grammar and morphology).
3. Impairments in discourse (ability to use vocabulary and connect sentences to explain or
describe a topic or series of events or have a conversation).

B. Language abilities are substantially and quantifiably below those expected for age, resulting
in functional limitations in effective communication, social participation, academic achievement,
or occupational performance, individually or in any combination.

C. Onset of symptoms is in the early developmental period.

D. The difficulties are not attributable to hearing or other sensory impairment, motor dysfunction,
or another medical or neurological condition and are not better explained by intellectual
disability (intellectual developmental disorder) or global developmental delay.

Language acquisition is marked by changes from onset in toddlerhood to the adult level of
competency that appears during adolescence. Changes appear across the dimensions of
language (sounds, words, grammar, narratives/expository texts, and conversational
skills) in age-graded increments and synchronies. Language disorder emerges during the
early developmental period; however, there is considerable variation in early vocabulary
acquisition and early word combinations, and individual differences are not, as single
indicators, highly predictive of later outcomes. By age 4 years, individual differences in
language ability are more stable, with better measurement accuracy, and are highly pre-
dictive of later outcomes. Language disorder diagnosed from 4 years of age is likely to be
stable over time and typically persists into adulthood, although the particular profile of
language strengths and deficits is likely to change over the course of development.

Development and Course

• Language disorder emerges during the early developmental period. Language acquisition is
marked by changes from onset in toddlerhood to the adult level of competency that appears
during adolescence.
• Changes appear across the dimensions of language (sounds, words, grammar,narratives/
expository texts, and conversational skills) in age-graded increments and synchronies.
• Language disorder diagnosed from 4 years of age is likely to be stable over time and typically
persists into adulthood, although the language strengths and deficits are likely to change over
the course of development.
Risk and Prognostic Factors
•Children with receptive language impairments have a poorer prognosis than those with
predominantly expressive impairments. They are more resistant to treatment, and diffi-
culties with reading comprehension are frequently seen.
•Genetic and physiological- Language disorders are highly heritable, and family mem-
bers are more likely to have a history of language impairment.

Prevalence
The prevalence rate of language disorder according to the DSM-5 is approximately 3-7% in
children. It is more commonly diagnosed in males than in females, with a reported ratio of about
2:1 to 3:1.

Differential Diagnosis
• Normal variations in language- Language disorder needs to be distinguished from normal
developmental variations, and this distinction may be difficult to make before 4 years
of age.
• Hearing or other sensory impairment- Language deficits may be associated with a hearing
impairment, other sensory deficit, or a speech-motor deficit.
• Intellectual disability (intellectual developmental disorder)- Language delay is often the
presenting feature of intellectual disability, and the definitive diagnosis may not be made
until the child is able to complete standardized assessments.
• Neurological disorders- Language disorder can be acquired in association with neurological
disorders, including epilepsy (e.g., acquired aphasia or Landau-Kleffner syndrome).
• ASD- Loss of speech and language in a child younger than 3 years maybe a sign of autism
spectrum disorder (with developmental regression).

Comorbidity-
Specific learning disorder (literacy and numeracy), ADHD, ASD developmental coordination
disorder, social (pragmatic) communication disorder.

ICD-
In the ICD-10, features of Language Disorder correspond primarily to the F80 category: Specific
Developmental Disorders of Speech and Language.

F80.1: Expressive Language Disorder

Features-
● Limited vocabulary compared to peers.
● Difficulty forming grammatically correct sentences.
● Challenges in using language to express thoughts, needs, and emotions.
● Speech may be immature for the child’s age but without significant issues in
understanding language.
F80.2: Receptive Language Disorder
Features-
● Difficulty understanding words, sentences, or complex language.
● Challenges following instructions or comprehending questions.
● A relative strength in producing speech but poor understanding of what is said to them.

F80.3: Mixed Receptive-Expressive Language Disorder

Features-
● Impairments in both understanding (receptive) and producing (expressive) language.
● Difficulty comprehending language, leading to struggles in verbal communication.
● Delays in acquiring vocabulary, grammar, and sentence structure.

General Characteristics Across F80 Disorder-

Early Onset: Symptoms appear during early childhood, typically before the age of 5.
Developmental Delays: Delays in language acquisition not explained by hearing impairments,
intellectual disabilities, or neurological conditions.
Impact on Daily Life: Communication deficits interfere with academic, social, or occupational
functioning.
Exclusion Criteria: The language difficulties are not attributable to general developmental
delays, autism spectrum disorder, or sensory impairments.

2) Speech Sound Disorder- 315.39 (F80.0)

Prevalence-
2-3% of the population and is more common in males than in females, with a ratio of approx 2:1

Diagnostic Features
Speech sound production describes the clear articulation of the phonemes (i.e., individual
sounds) in combination that make up spoken words. Speech sound production requires both
the phonological knowledge of speech sounds and the ability to coordinate the movements of
the articulators (i.e., the jaw, tongue, and lips,) with breathing and vocalizing for speech.
The ability to rapidly coordinate the articulators is a particular aspect of difficulty, there may be a
history of delay or incoordination in acquiring skills that also utilize the articulators and related
facial musculature; among others, these skills include chewing, maintaining mouth closure, and
blowing the nose.
Speech sound disorder is thus heterogeneous and includes phonological disorder and
articulation disorder. Among typically developing children at age 4 years, overall speech
should be intelligible, whereas at age 2 years, only 50% may be understandable.

Language disorder, particularly expressive deficits, may be found to co-occur with speech
sound disorder. Verbal dyspraxia is a term also used for speech production problems.
Diagnostic Criteria-
A. Persistent difficulty with speech sound production that interferes with speech intelligi-
bility or prevents verbal communication of messages.

B. The disturbance causes limitations in effective communication that interfere with social
participation, academic achievement, or occupational performance, individually or in
any combination.

C. Onset of symptoms is in the early developmental period.

D. The difficulties are not attributable to congenital or acquired conditions, such as cere-
bral palsy, cleft palate, deafness or hearing loss, traumatic brain injury, or other medi-
cal or neurological conditions.

Development and Course-

Learning to produce speech sounds clearly and accurately and learning to produce connected
speech fluently are developmental skills but their progression in mastering speech sound
production should result in mostly intelligible speech by age 3 years.
Children with speech sound disorder continue to use immature phonological simplification
processes past the age when most children can produce words clearly.
Most speech sounds should be produced clearly and most words should be pronounced
accurately according to age and community norms by age 7 years. The most frequently
misarticulated sounds also tend to be learned later, leading them to be called the “late eight” (l,
r, s, z, th, ch, dzh, and zh). Misarticulation of any of these sounds by itself could be considered
within normal limits up to age 8 years. Lisping (i.e., misarticulating sibilants) is particularly
common. It may be associated with an abnormal tongue-thrust swallowing pattern.
Most children with speech sound disorder respond well to treatment, and speech difficulties
improve over time, and thus the disorder may not be lifelong. However, when a language
disorder is also present, the speech disorder has a poorer prognosis and may be
associated with specific learning disorders.

Risk factors and Prognosis-

•Genetic and physiological- Language disorders are highly heritable, and family members are
more likely to have a history of language impairment.

Differential Diagnosis
• Normal variations • Hearing or other sensory impairment • Structural deficits (cleft palate).
• Dysarthria. Speech impairment may be attributable to a motor disorder, such as cerebral
palsy. Neurological signs, as well as distinctive features of voice, differentiate dysarthria
from speech sound disorder, although under 3 years differentiation may be difficult, particularly
when there is no or minimal general body motor involvement.
•Selective mutism- because of embarassment about their impairments, but many children with
selective mutism exhibit normal speech in “safe” settings, such as at home or with close friends.
ICD-
Phonological Disorder (ICD-10, F80.0) involves difficulty with the rules of sound patterns in
speech. It’s characterized by the use of simplified sound patterns that make speech unclear.
Key features include:
- Pattern-based errors: Substituting, omitting, or distorting sounds (e.g., "tar" for "car" and
Speech may be hard to understand due to these errors.
- Language impact: Affects language development, including vocabulary and reading.
- Age of onset: Typically seen in preschool children.
- Exclusion: Not caused by hearing loss or general developmental delays.

3) Childhood-Onset Fluency Disorder (Stuttering) 315.35 (F80.81)

Prevalence-
Around 2-5% of children and is more common in males than in females, with a ratio of about 2:1
- Persistence: While many children may outgrow stuttering, around 1% of adults continue to
experience stuttering, making it a disorder that may persist into adulthood for some.

Risk and Prognostic Factors-

Genetic and physiological. The risk of stuttering among first-degree biological relatives of
individuals with stuttering problem is more than three times the risk in the general population.

Diagnostic Features-
The essential feature of this is a disturbance in the normal fluency and time patterning of speech
that is inappropriate for the individual’s age. This disturbance is characterized by frequent
repetitions or prolongations of sounds or syllables and by other types of speech dysfluencies,
including broken words (e.g., pauses within a word), audible or silent blocking (i.e., filled or
unfilled pauses in speech), circumlocutions (i.e., word substitutions to avoid problematic words),
words produced with an excess of physical tension, and monosyllabic whole-word repetitions
(e.g., “I-I-I-I see him”). The extent of the disturbance varies from situation to situation and often
is more severe when there is special pressure to communicate (e.g., giving a report at school,
interviewing for a job). Dysfluency is often absent during oral reading, singing, or talking to
inanimate objects or to pets.

Associated Features-
Fearful anticipation of the problem may develop. The speaker may attempt to avoid dysfluencies
by linguistic mechanisms (e.g., altering the rate of speech, avoiding certain words or sounds) or
by avoiding certain speech situations, such as telephoning or public speaking. In addition to
being features of the condition, stress and anxiety have been shown to exacerbate dysfluency.

Childhood-onset fluency disorder may also be accompanied by motor movements

(e.g., eye blinks, tics, tremors of the lips or face, jerking of the head, breathing movements,
fist clenching).
Diagnostic Criteria-
A. Disturbances in the normal fluency and time patterning of speech that are inappropriate for
the individual’s age and language skills, persist over time, and are characterized
by frequent and marked occurrences of one (or more) of the following:
1. Sound and syllable repetitions.
2. Sound prolongations of consonants as well as vowels.
3. Broken words (e.g., pauses within a word).
4. Audible or silent blocking (filled or unfilled pauses in speech).
5. Circumlocutions (word substitutions to avoid problematic words).
6. Words produced with an excess of physical tension.
7. Monosyllabic whole-word repetitions (e.g., “I-I-I-I see him”).
B. The disturbance causes anxiety about speaking or limitations in effective communication,
social participation, or academic or occupational performance.
C. The onset of symptoms is in the early developmental period. Later-onset cases are
diagnosed as adult-onset fluency disorder.
D. The disturbance is not attributable to a speech-motor or sensory deficit, dysfluency as-
sociated with neurological insult (e.g., stroke, tumor, trauma), or another medical con-
dition and is not better explained by another mental disorder.

Development and Course-

Onset- age at onset ranging from 2 to 7 years and by age 6 for 80%-90% of affected individuals,
with The onset can be insidious or more sudden. Typically, dysfluencies start gradually with
repetition of initial consonants, first words of a phrase, or long words. The child may not be
aware of dysfluencies. As the disorder progresses, the dysfluencies become more frequent and
interfering, occurring on the most meaningful words or phrases in the utterance. As the child
becomes aware of the speech difficulty, he or she may develop mechanisms for avoiding the
dysfluencies and emotional responses, including avoidance of public speaking and use of
short and simple utterances.

Differential diagnosis-
• Sensory deficits- Dysfluencies of speech may be associated with a hearing impairment
or other sensory deficit or a speech-motor deficit.
• Normal speech dysfluencies. The disorder must be distinguished from normal dysflu-
encies that occur frequently in young children, which include whole-word or phrase rep-
etitions (e.g., “I want, I want ice cream”), incomplete phrases, interjections, unfilled
pauses, and parenthetical remarks. If these difficulties increase in frequency or complexity
as the child grows older, a diagnosis of childhood-onset fluency disorder is appropriate.
• Medication side effects. Stuttering may occur as a side effect of medication and may be
detected by a temporal relationship with exposure to the medication.
• Adult-onset dysfluencies. If onset of dysfluencies is during or after adolescence, it is an
“adult-onset dysfluency” rather than a neurodevelopmental disorder.
• Tourette’s disorder. Vocal tics and repetitive vocalizations of Tourette should be distinguishable
from the repetitive sounds of childhood-onset fluency disorder by their nature and timing.
 4) Social (Pragmatic) Communication Disorder 315.39 (F80.89)-
Prevalence-
Around 7% of the population, though some studies suggest a lower rate, around 1-2%.
It is more common in males than in female, with a 2:1 ratio.

Risk and prognostic factors-

Genetic and physiological. A family history of autism spectrum disorder, communication
disorders, or specific learning disorder appears to increase the risk for SCD.

Diagnostic features-
Characterized by a primary difficulty with pragmatics, or the social use of language and
communication, as manifested by deficits in understanding and following social rules of verbal
and nonverbal communication in naturalistic contexts, changing language according to the
needs of the listener or situation, and following rules for conversations and storytelling.
Associated Features-
The most common associated feature of social (pragmatic) communication disorder is lan-
guage impairment, which is characterized by a history of delay in reaching language milestones.
Individuals with social communication deficits may avoid social interactions.

Diagnostic Criteria-
A. Persistent difficulties in the social use of verbal and nonverbal communication as man-
ifested by all of the following:
1. Deficits in using communication for social purposes, such as greeting and sharing
information, in a manner that is appropriate for the social context.
2. Impairment of the ability to change communication to match context or the needs of
the listener, such as speaking differently in a classroom than on a playground, talk-
ing differently to a child than to an adult, and avoiding use of overly formal language.
3. Difficulties following rules for conversation and storytelling, such as taking turns in
conversation, rephrasing when misunderstood, and knowing how to use verbal and
nonverbal signals to regulate interaction.
4. Difficulties understanding what is not explicitly stated (e.g., making inferences) and
nonliteral or ambiguous meanings of language (e.g., idioms, humor, metaphors,
multiple meanings that depend on the context for interpretation).

B. The deficits result in functional limitations in effective communication, social participa-

tion, social relationships, academic achievement, or occupational performance, indi-
vidually or in combination.

C. The onset of the symptoms is in the early developmental period (but deficits may not
become fully manifest until social communication demands exceed limited capacities).

D. The symptoms are not attributable to another medical or neurological condition or to low
abilities in the domains of word structure and grammar, and are not better explained by
ASD, I.D., global developmental delay, or another mental disorder.
Development and Course-
Diagnosis of social (pragmatic) communication disorder is rare among children younger than 4
years. By age 4 or 5 years, most children should possess adequate speech and language
abilities to permit identification of specific deficits in social communication.
Milder forms of the disorder may not become apparent until early adolescence, when language
and social interactions become more complex.
The early deficits in pragmatics may cause lasting impairments in social relationships and
behavior and also in acquisition of other related skills, such as written expression.

Differential diagnosis-
• Autism spectrum disorder- Can be differentiated by the presence of restricted/ repetitive
patterns of behavior, interests, or activities and their absence in social communication disorder.
• ADHD- Primary deficits of ADHD may cause impairments in social communication and
functional limitations of effective communication, social participation, or academic achievement.
• Social anxiety disorder- In pragmatic communication disorder, the individual has never had
effective social communication; in social anxiety disorder, the social communication skills
developed appropriately but are not utilized because of anxiety or fear about social interactions.
• Intellectual disability and global developmental delay- A separate diagnosis is not given unless
the social communication deficits are clearly in excess of the intellectual limitations.

Comorbidity-
ADHD, behavioral problems, and specific learning disorders
Assessment of Communication Disorders-
The assessment process is aimed at understanding the child’s specific communication
challenges and determining the appropriate intervention strategies. It usually involves the
following components:

A. Case History-
- Parent/teacher interviews and gathering information about the child’s development, family
history, and social factors.
- Developmental milestones: When did the child start speaking? Were there any delays or
challenges?
- Medical history: Any history of hearing problems, head injuries, neurological conditions, or
other relevant medical factors?
- Social history: Any family history of speech or language disorders?

B. Standardized Testing-
- Speech and language evaluations: These are conducted using formal standardized tests to
assess various aspects of speech and language, including:
- Receptive and expressive language skills (understanding and using language)
- Articulation (speech sound production)
- Phonological awareness (ability to identify and manipulate sounds in language)
- Grammar and sentence structure
- Vocabulary and word retrieval
- Speech fluency (for stuttering)

Some commonly used tests include:

- The Clinical Evaluation of Language Fundamentals (CELF)
- The Goldman-Fristoe Test of Articulation
- The Preschool Language Scale (PLS)

C. Observational Assessment-
- Naturalistic observation: The child’s speech and language use is observed in real-life settings
(e.g., at home, in school, during play) to see how they communicate in different contexts.
- Social communication: Observing how the child interacts with others, both in structured and
unstructured settings, to evaluate their social (pragmatic) communication skills.

D. Parent/Teacher Reports-
- Informal assessments: In addition to standardized testing, input from teachers, parents, and
caregivers is crucial. They can provide insights into the child’s speech and language functioning
in daily life, such as challenges in following instructions or participating in conversations.
- Communication checklists can help in gathering relevant data on communication strengths and
challenges in various environments.
 E. Audiological Assessment-
- Hearing evaluation: Since hearing problems can significantly impact speech and language
development, a comprehensive hearing test is often conducted to rule out hearing loss as a
cause of communication difficulties.

F. Assessment of Co-occurring Disorders-

- Cognitive or developmental issues: Assessing for intellectual disabilities, autism, or other
developmental disorders that might impact communication.
- Speech and motor coordination: For conditions like Developmental Coordination Disorder
(DCD) or dyspraxia, which may affect speech clarity or motor planning.

Intervention for Communication Disorders-

Speech-language therapy is typically the main form of intervention for communication disorders.

A. Speech-Language Therapy (SLT)

The primary form of treatment for communication disorders is speech-language therapy, which
can vary based on the type of disorder the child has. Here are some common approaches:

1. Language Disorder (Expressive and Receptive)

- Language enrichment: Expanding the child’s vocabulary through play-based activities,
reading, and storytelling.
- Sentence building: Helping the child put words together into more complex sentences to
improve grammar.
- Interactive storytelling: Using pictures, objects, or stories to improve understanding and use
of language.
- Teaching specific communication skills: Such as answering questions, using complete
sentences, or following multi-step directions.

2. Speech Sound Disorder

- Articulation therapy: Teaching the child how to pronounce specific sounds correctly. This may
involve visual cues, auditory cues, and repetition drills to improve sound production.
- Phonological awareness: Exercises to help children recognize and manipulate sounds in
language (e.g., rhyming games, sound discrimination tasks).

3. Childhood-Onset Fluency Disorder (Stuttering)

- Fluency shaping techniques: Teaching the child to speak slowly and smoothly, with a focus
on smooth transitions between words.
- Stuttering modification techniques: Teaching the child to manage and reduce stuttering
through relaxation and breathing exercises.
- Parent training: Educating parents on how to foster a supportive communication
environment, helping the child feel more confident in speaking.
4. Social (Pragmatic) Communication Disorder
- Social skills training: Teaching the child how to make eye contact, initiate and maintain
conversations, and use appropriate greetings and farewells.
- Role-playing: Using structured social scenarios to practice communication skills.
- Peer interactions: Encouraging the child to participate in group activities or structured play to
practice social communication.

B. Augmentative and Alternative Communication (AAC)

For children with severe speech or language disorders, especially those with non-verbal
communication, AAC devices may be used. These can include:
- Picture exchange systems (PECS)
- Speech-generating devices
- Communication boards or books
- Tablet apps designed for communication support (e.g., Proloquo2Go)
These devices help the child express their needs and thoughts when spoken language is
insufficient.

C. Parent and Teacher Involvement

Involving parents and teachers in the intervention process is crucial. They can support the
child’s communication development by:
- Encouraging language-rich environments at home (e.g., reading books, engaging in
conversation).
- Using consistent routines and strategies in the classroom that align with therapy goals.
- Helping the child with homework that involves communication tasks (e.g., practicing new
vocabulary or sentence structures).
- Parents can also attend parent training programs that teach how to support speech and
language development in daily life.

D. Group Therapy and Peer Support

- Group therapy can be beneficial for children with pragmatic language disorders or those who
struggle with social communication. These sessions provide opportunities to practice
communication skills in a naturalistic, social setting.
- Peer modeling: In some cases, involving peers who have stronger communication skills can
help improve the child’s social communication abilities.

3. Progress Monitoring and Adjustment

- Ongoing assessment: Throughout therapy, the child’s progress is continuously monitored
through follow-up assessments. This can involve the clinician observing the child’s improvement
in speech, language, or social communication over time.
- Adjusting the therapy plan: Based on the child’s progress, the intervention plan may be
adjusted, including modifying goals, introducing new techniques, or focusing on areas that still
require improvement.

4. Multidisciplinary Approach