This document provides an overview of pervasive developmental disorders (PDDs), which include autism spectrum disorders such as autistic disorder, Asperger's disorder, childhood disintegrative disorder, Rett's disorder, and pervasive developmental disorder not otherwise specified. It discusses the defining characteristics, diagnostic criteria, epidemiology, etiology, pathology, clinical features, medical evaluation, treatment and prognosis of these conditions. PDDs are characterized by impairments in social interaction and communication as well as restricted and repetitive behaviors, with onset in early childhood. Diagnosis involves evaluating developmental history and assessing for deficits in core symptom domains. Treatment involves early behavioral and educational interventions as well as potential medication management of associated symptoms.

1. Pervasive Developmental Disorder
Dr.Anurag Fursule,DNB Resident
(second year)

2. • Adjective
• Meaning: (especially of an unwelcome
influence or physical effect) spreading widely
throughout an area or a group of people

3. Disease Overview
Pervasive Developmental Disorders (PDDs)
Childhood
Disintegrative
Disorder (CDD)
Autistic
Disorder
Autism Spectrum
Disorders* (ASDs)
Asperger’s
Disorder
Rett’s
Disorder
Pervasive
Developmental
Disorder Not Otherwise
Specified (PDD-NOS)
*ASD is not a DSM-IV TR definition but reflects categorization in the general public.
Tidmarsh L et al. Can J Psychiatry. 2003;48:517-525; DSM-IV TR. Washington, DC: American Psychiatric
Association; 2000.

4. Epidemiology
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Increasing steadily since last 15 yrs
Prevalence 1/150
Disease specific prevalence 20.6/10000
Asperger syndrome 6/10000
PDD NOS 37.1/10000
Rett disorder 0.5-1/10000
M:F =4:1 or AD 5:1 for asperger

5. Pathology
• Differences in brain structure of children with AD
• Initially till 2 months of age HC is normal or smaller
• Later show abnormally rapid increase in HC from 6-14
months
• Increase in brain volume from 2-4 yr of age
• Early accelerated growth in initial years is followed
later by abnormally slow or arrested growth
• Functional areas (cognitive, language ,emotional,social)
are most affected

6. ETIOLOGY
Copy number
variations
Deletions
Microdeletions
Gene gene
interaction
Duplication
Gene
Environment
interaction
•Abnormal neuronal and
axonal growth
•Abnormal synapse formation
•Abnormal myelination
Inversion
Translocation

7. • In utero insults
• Environmental factors cannot be ruled out
• No relation between development of AD and
MMR vaccine
• Premature birth is also a risk factor for AD

8. Clinical Features
• Core features of AD include impairment in 3
symptom domains:
1.Social Interaction
2.Communication
3.Developmentally appropriate behavior,
interests and activities
• onset of autism is almost always before age 3
• parents typically are concerned between the ages
of 12 and 18 months as language fails to develop

9. Social Interaction
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Stereotypical body movements
Marked need for sameness
Very narrow range of interests
Impaired ability to engage in social interaction (hallmark symptom)
Abnormal eye contact
Lack of interactive play
Failure to smile
Lack of sharing
Lack of interest in other children
Some children may show intermittent engagement with
environment and inconsistent eye contact , hug , smile
• Impairment in joint attention
• Deficits in empathy

10. Communication
• Vary in verbal abilities
• May be nonverbal to having some
speech(capable of imitating songs rhymes)
• Speech may have odd prosody or intonation
• There may be echolalia, pronoun reversal, non
sense rhyming
• Absent babbling or gestures by 12 months of age
• Absent single word by 16 months
• Absent two word purposeful phrases by 2 yrs
• Or any loss of social or language skills at any time

11. Behavior and interests
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Little symbolic play
Ritualistic rigidity
Preoccupation with parts of object
Restricted and repetitive interest and behavior
Child spends hours in solitary play
Tantrum like rages can occur if there is any
disruption in behavior

12. • Heightened awareness of and sensitivity to
some stimuli and diminished response to pain
• Lack of startle response to noises
• Intellectual functioning can vary from MR to
superior intellectual functioning(splinter skills,
savant behavior).
• 20% of patients have macrocephaly , enlarged
head might not be apparent till age of 2 yrs

13. • echo what they have heard (echolalia)
• Speech tends to be less flexible—for example, there is
no appreciation that change in perspective or speaker
requires pronoun change; this leads to pronoun
reversal.
• The child may develop an interest in a repetitive
activity—for example, collecting strings and using them
for self-stimulation, memorizing numbers, or repeating
certain words or phrases.
• Stereotyped movements may include toe walking,
finger flicking, body rocking, and other mannerisms;
these are engaged in as a source of pleasure or selfsoothing.
• The child may be preoccupied with spinning objects—
for example, he may spend long periods watching a
ceiling fan rotate.
• prosody is the rhythm, stress, and intonation of
speech

14. Diagnostic Criteria
Autism is characterized by deficits in 3 core areas before age 3
At least 6 items are needed for diagnosis*
Social Interaction(2)
Communication (1)
Behavior (1)
• Marked impairment in
multiple nonverbal
behaviors
• Delay in, or total lack of,
development of spoken
language
• Failure to have
developmentally
appropriate peer
relationships
• Marked impairment in
ability to initiate or
sustain conversation
• Preoccupation with
1/more stereotyped
and restricted patterns of
interest that are abnormal
in intensity or focus
• Lack of showing,
bringing, or pointing
out objects of interest
• Lack of social or
emotional reciprocity
• Stereotyped and repetitive
use of language, or use of
idiosyncratic language
(echolalia, pronoun reversals,
odd cadence, scripting)
• Lack of varied,
spontaneous makebelieve play or social
imitative play appropriate to
developmental level
*DSM-IV TR. Washington, DC: American Psychiatric Association; 2000.
• Apparently inflexible
adherence to specific,
nonfunctional routines
or rituals
• Stereotyped and repetitive
motor mannerisms
• Persistent preoccupation
with parts of objects

15. Diagnosis

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AD is diagnosed by clinical examination
Detailed developmental history
H/o seizures,sensory deficits
Or H/S/O any other medical condition :
fragile x
prader villi
SLOS
Rett
angelmann syn
NF
Congenital rubella
TS
untreated PKU
• A review of past and present psychotropic medicines

17. • Gold standard diagnostic tools are
a. Autism diagnostic interview-Revised(ADI-R)
b.Autism diagnostic observation schedule(ADOS)
• Intelligence test should be done to establish
cognitive function and eligibility for services
• Generally falls in functionally retarded range
30%-60%
• A measure of adaptive functioning such vineland
adaptive behavioral skills is essential to establish
priorities for treatment planning
• Medical and genetic evaluation as stated in
furthur slides
• In absence of any neurologic signs or dysmorphic
features any neuroimaging is not indicated.

18. MEDICAL AND GENETIC EVALUATION OF CHILDREN
WITH PERVASIVE DEVELOPMENTAL DISORDERS
Required evaluations
• Careful physical evaluation to identify dysmorphic
features
• Macrocepahaly
• Woods lamp exam. For tuberous sclerosis
• Formal audiologic evaluation
• Karyotyping
• Molecular DNA testing for Fragile X Syndrome

19. Consider further investigations if above tests are
normal and in children with combined co
morbid mental retardation
• FISH test for 15q11q13 to rule out duplication
of prader villi syndrome
• FISH test for telomeric abnormalitites
• Test for mutation in MECP2 gene
• DNA testing for fragile x syndrome

20. Other Testing based on clinical
features
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Liver enzymes
T3, T4 , TSH
Biotinidase
Complete blood count
Ceruloplasmin and serum copper

21. Metabolic testing to consider based on other clinical
features
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Fasting RBS
Plasma AA
Ammonia and lactate
Fatty acid profile
Carnitine
Acetyl carnitine
Homocystine
Plasma dehydrocholesterol (SLOS)
Urine amino acids
Urine organic acids
Urine testing for purines and pyrimidines
Urine acyl glycine, random

22. EEG if following features are noted
• Clinically observable seizures are present
• H/o significant regression in social and
communication function
• FISH

23. Surviellance and Screening
Algorithm Autistic Spectrum
Disorder

25. Children and Adolescents With Autistic
Disorder: The Treatment Team
Child
Psychiatrist
Psychologist
General or
Developmental
Pediatrician
Effective patient
care may
include an
interdisciplinary
treatment team
Pediatric
Neurologist
Speech
Pathologist
Teachers
Social Worker
Parents
The Autism Society. http://www.autism-society.org/site/PageServer?pagename=about_whatis_diagnosis. Accessed 11.15.06

26. • Early childhood intervention programs are
available:
-beginning early interventions
-intensive interventions
-low student to teacher ratio
-parent training
-promoting opportunities for interaction with
peers strategies to apply learned skills to new
environments and situation
-curricula that address functional spontaneous
communication , social skills, adaptive skills,
reduction of maladaptive behavior

27. • Names of some programs
- Applied behavioral analysis
- Discrete trial training
- Treatment and education of autistic and related
communication handicapped children

28. • Parents training includes addressing to child's
need, providing emotional support, providing
access to needed ongoing services
• Older children and adolescents can benefit from
more intensive behavioral or cognitive behavioral
therapy
• Pharmacotherapy can increaseability of person
with AD to benefit from ongoing behavioral
interventions.
• Pharmacotherapy should be initiated if co-morbid
conditions are present like aggression, self
injurious behavior, hyperactivity, inattention ,
anxiety, mood lability , irritability, compulsive like
behavior, stereotypic behavior, sleep disturbances

29. Pharmacotherapy
• SSRIs: fluoxetine, fluvoxamine, citalopram, escitalopram,
paroxetine, sertraline
• Stimulants: methylphenidate, dextroamphetamine, mixed
amphetamine salts
• Atomoxetine
• Atypical antipsychotic agents: risperidone, aripiprazole, olanzapine,
quetiapine, ziprasidone
• α2-Agonists: clonidine, guanfacine
• Mood stabilizers (levetiracetam, topiramate, valproic acid)
• β-blockers (propranolol, nadolol, metoprolol, pindolol)
• Melatonin
• Ramelteon
• Antihistamines (diphenhydramine, hydroxyzine)
• Buspirone
• Anticonvulsant mood stabilizers (carbamazepine, gabapentin,
lamotrigine, oxcarbazepine, topiramate, valproic acid)
• Lithium

30. Pharmacotherapy
• Repetitive behavior, behavioral rigidity,OC symtoms
Co existing diagnosis:OCD, Stereotypic movement disorder
Rx:SSRI
• HIA:Hyperacitvity, inattention,impulsivity
Co existing diagnosis: ADHD
Rx:Stimulants
Atomoxetine
Atypical antipsychotics
alpha agonists
Mood stabilizers
SSRI
Beta blocker

31. • Sleep dysfunction
Co existing diagnosis: Circadian rhythm sleep disorder NOS
Rx: Melatonin
ramelteon
Antihistaminics
alpha agonists
Mirtazapine
• Anxiety
Co existing diagnosis: GAD, Anxiety disorder NOS
Rx: SSRI
Buspirone
Mirtazapine
• Depressive phenotype: marked change from base line including
social withdrawl, irritability ,sadness or crying spells, decreased
energy anorexia , wt loss , sleep dysfunction
Co existing diagnosis: Major depressive disorder, depressive
disorder NOS
Rx: SSRI
Mirtazapine

32. • Depressive phenotype: marked change from base line including
social withdrawl, irritability ,sadness or crying spells, decreased
energy anorexia , wt loss , sleep dysfunction
Co existing diagnosis: Major depressive disorder, depressive disorder
NOS
Rx: SSRI
Mirtazapine
• Bipolar phenotype: behavioral cycling with rages and euphoria,
decreased need for sleep, manic like hyperactivity, irritability,
aggression , self inury, sexual behavior
Co existing diagnosis: Bipolar 1 disorder
Bipolar disorder NOS
Rx: Anticonvulsant mood stabilizers
Atypical antipsychotic agents
Lithium

33. Prognosis
• with earlier intervention, long-term outcome improves
for many individuals, with perhaps 15 percent able to
achieve independence and self-sufficiency in
adulthood and, perhaps, another 20 percent of
individuals able to function with occasional support.
• Overall cognitive ability in the normal range is a
positive prognostic sign.
• During adolescence, some autistic children may exhibit
behavioral deterioration; for a minority among these,
the decline in language and social skills may be
associated with the onset of a seizure disorder.

34. Asperger Syndrome

35. • qualitative impairment in the development of
reciprocal social interaction
• often show repetitive behaviors with restricted,
obsessional, and idiosyncratic interests
• DSM IV criteria in next slide
• history of normal language milestones with single
words used by age 2 yr and communicative phrases
used by age 3 yr
• deficits in nonverbal and pragmatic aspects of
communication (facial expressions, gestures)
• do not have the severe language delays and
impairments that characterize AD.
• Neuropsychologic testing can reveal a pattern
consistent with nonverbal learning disability.
• children appear to others to be peculiar or eccentric

36. • can be awkward and clumsy and have
unusual postures and gait.
• often similar traits in family members
• represent a form of high-functioning
AD (controvversial)

37. DSM 4 Criteria for Asperger Syndrome
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(I) Qualitative impairment in social interaction, as manifested by at least two of the following:
(A) marked impairments in the use of multiple nonverbal behaviors such as eye-to-eye gaze, facial
expression, body posture, and gestures to regulate social interaction
(B) failure to develop peer relationships appropriate to developmental level
(C) a lack of spontaneous seeking to share enjoyment, interest or achievements with other people, (e.g..
by a lack of showing, bringing, or pointing out objects of interest to other people)
(D) lack of social or emotional reciprocity
•
(II) Restricted repetitive & stereotyped patterns of behavior, interests and activities, as manifested by at
least one of the following:
(A) encompassing preoccupation with one or more stereotyped and restricted patterns of interest that is
abnormal either in intensity or focus
(B) apparently inflexible adherence to specific, nonfunctional routines or rituals
(C) stereotyped and repetitive motor mannerisms (e.g. hand or finger flapping or twisting, or complex
whole-body movements)
(D) persistent preoccupation with parts of objects
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(III) The disturbance causes clinically significant impairments in social, occupational, or other important
areas of functioning.
(IV) There is no clinically significant general delay in language (E.G. single words used by age 2 years,
communicative phrases used by age 3 years)
(V) There is no clinically significant delay in cognitive development or in the development of ageappropriate self help skills, adaptive behavior (other than in social interaction) and curiosity about the
environment in childhood.
(VI) Criteria are not met for another specific Pervasive Developmental Disorder or Schizophrenia.
A child who has some symptoms but who does not meet full criteria for AD or
Asperger's disorder is diagnosed as PDD Not Otherwise Specified. This “atypical
autism” has a lifelong course with variable outcome and is often associated with
comorbid psychiatric disorders.

38. Treatment
• CBT
• Group social skills training is an effective
intervention
• risperidone can improve negative symptoms
similar to those seen in schizophrenia

39. Prognosis
• Children with Asperger's disorder tend to
improve symptomatically and functionally as
they mature, with superior IQ conveying an
improved prognosis
• 30% of children with this disorder develop
comorbid psychiatric disorders.

40. Retts Disorder

41. Diagnostic Criteria
A. All of the following:
(1) apparently normal prenatal and perinatal development
(2) apparently normal psychomotor development through the first 5 months
after birth
(3) normal head circumference at birth
B. Onset of all of the following after the period of normal development:
(1) deceleration of head growth between ages of 5 and 48 months
(2) loss of previously acquired purposeful hand skills between ages of 5 and
30 months, with the subsequent development of stereotyped hand
movements (e.g., hand wringing or hand washing)
(3) loss of social engagement early in the course (although often social
interaction develops later)
(4) appearance of poorly coordinated gait or trunk movements
(5) severely impaired expressive and receptive language with severe
psychomotor retardation

42. • Estimates of the prevalence of the condition range
from 1 in 15,000 to 1 in 22,000 females
• Recently, a gene, MECP2, has been found to be
involved in most cases.
• The lack of social interest and potential for
misdiagnosis of autism is greatest in the preschool
years
• usually, by the time the child reaches school age, the
autistic-like features are less prominent and
development plateaus for a time(pseudostationary
phase)
• During this plateau, or “pseudostationary” phase,
breathing difficulties, bruxism, motor problems, and
early scoliosis may be noted. Apneic episodes may
alternate with hyperventilation.
• EEG is frequently abnormal and seizures are common.

43. Course and Prognosis
• Rett's syndrome is a progressive
neurodegenerative condition. As adults,
patients may be nonambulatory due to motor
problems and scoliosis. There is increased risk
of sudden death.

44. Rx
• no specific treatments for Rett's syndrome
• Special education, behavior modification,
physical, and respiratory therapies may be
useful
• caution is needed with use of medications
that lower the seizure threshold.

45. Childhood Disintegrative Disorder
• Childhood disintegrative disorder is a rare
condition characterized by a marked
regression in multiple areas of development
after several years of normal development.
• originally termed the condition dementia
infantilis; subsequently, it has also been
termed disintegrative psychosis or Heller's
syndrome

46. • Table 38-6 DSM-IV-TR Criteria for Childhood
Disintegrative Disorder
A. Apparently normal development for at least the
first 2 years after birth, as manifested by the
presence of age-appropriate verbal and
nonverbal communication, social relationships,
play, and adaptive behavior.
B. Clinically significant loss of previously acquired
skills (before age 10 years) in at least two of the
following areas:
(1) expressive or receptive language
(2) social skills or adaptive behavior
(3) bowel or bladder control
(4) play
(5) motor skills
.

47. C. Abnormalities of functioning in at least two of
the following areas:
(1) qualitative impairment in social interaction (e.g.,
impairment in nonverbal behaviors, failure to
develop peer relationships, lack of social or
emotional reciprocity)
(2) qualitative impairments in communication (e.g.,
delay or lack of spoken language, inability to
initiate or sustain a conversation, stereotyped
and repetitive use of language, lack of varied
make-believe play)
(3) restricted, repetitive, and stereotyped patterns
of behavior, interests, and activities, including
motor stereotypies and mannerisms
D. The disturbance is not better accounted for by
another specific pervasive developmental
disorder or by schizophrenia

48. • As with autism, use of special education and
behavioral treatments is indicated to help
encourage reacquisition of skills. There are no
specific pharmacological treatments

49. REFERENCE
• Nelson Textbook of Pediatrics 19th Edition
• Kaplan's Comprehensive Textbook of Psychiatry 8th Edition