The document discusses autism spectrum disorder and provides information on autistic disorder. It notes that the prevalence of pervasive developmental disorders is 58.7 per 10,000 children. Autistic disorder is a neurodevelopmental disorder diagnosed before age 3 that involves impairments in social interaction, communication, and imagination/play. The cause is unknown but has a strong genetic component. Diagnostic criteria and clinical features of autistic disorder are provided.

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AUTISM
Dr.Padmesh. V, Dept of Pediatrics, Dr.SMCSI MCH

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Pervasive developmental disorders

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• Autistic Spectrum Disorder : Introduction :
• EPIDEMIOLOGY.
• Prevalence rate of all pervasive developmental disorders :
58.7 /10,000 children.
• Prevalence rates of
• Pervasive Devpt Dis. not otherwise specified: 24.8/10,000 ,
• Autism: 22 /10,000,
• Asperger syndrome: 11/10,000,
• Child disintegrative disorder: 0.9/10,000.

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AUTISTIC DISORDER

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6. • Autistic Disorder : Introduction : Dr.Padmesh. V
• Neurodevelopmental disorder of unknown etiology.
• But with a strong genetic basis.
• Diagnosed before 36 mo of age.
• Qualitative impairment in the areas of
-Language development or communication skills,
-Social interactions and reciprocity, and
-Imagination & play .

7. • Autistic Disorder : Introduction : Dr.Padmesh. V
• ETIOLOGY.
• Unknown.
• Multifactorial, with a strong genetic influence.
• 60–90% concordance rate for monozygotic twins and a 0%
concordance rate for dizygotic twins.
• 92% concordance rate for monozygotic twins and a 30% concordance
rate for dizygotic twins for the broader spectrum of social and
communication difficulties.

8. • Autistic Disorder : Introduction : Dr.Padmesh. V
• ETIOLOGY.
• Multiple genes involved.
• Certain genes believed to be more implicated in the heritability of
autism:
-Chromosome 7q
-Chromosome 2q, and
-Chromosome 15q11–13 (seen in Prader-Willi, Angelman ; both
of which manifest traits of rigidity and
stereotypical behaviors).

9. • Autistic Disorder : Introduction : Dr.Padmesh. V
• ETIOLOGY.
• Autism : M : F = 4 : 1
• Asperger: M : F = 8 : 1
• Autism also asso with other neurodevelopmental disorders:
-Seizure disorder,
-Fragile X syndrome, and
-Tuberous sclerosis.
• Environmental factors.
• No association between MMR vaccine & development of autism.

10. • Autistic Disorder Dr.Padmesh. V

11. • Diagnostic Criteria for Autism: Dr.Padmesh. V
• A. A total of 6 (or more) items from (1),(2), and (3), with at least 2
from (1) and 1 each from (2) and (3):
(1). Qualitative impairment in social interaction,
(2). Qualitative impairments in communication,
(3). Restricted, repetitive, and stereotyped patterns of behavior,
interests, and activities
• B. Delay or abnormal functioning in at least 1 of the following areas,
with onset < age 3 yr:
(1) social interaction,
(2) language as used in social communication, or
(3) symbolic or imaginative play
• C. The disturbance is not better accounted for by Rett disorder or
childhood disintegrative disorder

12. • Diagnostic Criteria for Autism: Dr.Padmesh. V
• A. A total of 6 (or more) items from (1),(2), and (3), with at least 2
from (1) and 1 each from (2) and (3):
(1). Qualitative impairment in social interaction,
(2). Qualitative impairments in communication,
(3). Restricted, repetitive, and stereotyped patterns of behavior,
a. Marked impairment in use of multiple nonverbal behaviors, such as
interests, and activities
eye-to-eye gaze, facial expression, body postures, and gestures to
regulate social interaction
• B. Delay or abnormal functioning in at least 1 of the following areas,
b. Failure to develop peer relationships appropriate to developmental
with onset < age 3 yr:
level
(1) social interaction,
c. Lack of spontaneous seeking to share enjoyment, interests, or
(2) language as used in social communication, or
achievements with other people (e.g., by a lack of showing, bringing, or
(3) symbolic or imaginative play
pointing out objects of interest)
d. Lack of social or emotional reciprocity
• C. The disturbance is not better accounted for by Rett disorder or
childhood disintegrative disorder

13. • Diagnostic Criteria for Autism: Dr.Padmesh. V
• A. A total of 6 (or more) items from (1),(2), and (3), with at least 2
from (1) and 1 each from (2) and (3):
(1). Qualitative impairment in social interaction,
(2). Qualitative impairments in communication,
(3). Restricted, repetitive, and stereotyped patterns of behavior,
interests, and activities
a. Delay in, or total lack of, development of spoken language (not
accompanied by an attempt to compensate through alternative modes
• B. Delay or abnormal functioning in at least 1 of the following areas,
of communication, such as gesture or mime)
with onset < age 3 yr:
b. In individuals with adequate speech, marked impairment in ability
(1) social interaction,
to initiate or sustain a conversation with others
(2) language as used in social communication, or
c. Stereotyped & repetitive use of language or idiosyncratic language
(3) symbolic or imaginative play
d. Lack of varied, spontaneous make-believe play or social imitative
play appropriate to developmental level
• C. The disturbance is not better accounted for by Rett disorder or
childhood disintegrative disorder

14. • Diagnostic Criteria for Autism: Dr.Padmesh. V
• A. A total of 6 (or more) items from (1),(2), and (3), with at least 2
from (1) and 1 each from (2) and (3):
(1). Qualitative impairment in social interaction,
(2). Qualitative impairments in communication,
(3). Restricted, repetitive, and stereotyped patterns of behavior,
interests, and activities
• B. Delay or abnormal functioning in at least 1 of the following areas,
a. with onset < age 3preoccupation with ≥1 stereotyped and restricted
Encompassing yr:
(1) social interaction,
pattern of interest that is abnormal in either intensity or focus
b. Apparently inflexiblesocial communication, or nonfunctional routines
(2) language as used in adherence to specific,
(3) symbolic or imaginative play rituals
or
c. Stereotyped and repetitive motor mannerisms (e.g., hand or finger
• C. The disturbance is not better accounted for by Rett disorder or
flapping or twisting or complex whole body movements)
childhoodPersistent precoccupation with parts of objects
d. disintegrative disorder

15. • Autistic Disorder Dr.Padmesh. V
• CLINICAL FEATURES.
• Neurodevelopmental disorder.
• Clinical presentation varies with severity of impairment.
• Despite the variability in the clinical pattern, all children with autism
manifest :
-Some degree of impairment in areas of
-Reciprocal social interaction,
-Communication,
-Restrictive and repetitive stereotypical patterns of
-Behavior,
-Interests, or
-Activities.

16. • Autistic Disorder Dr.Padmesh. V
• CLINICAL FEATURES.
• Although no pathognomonic symptom or behavior is seen
in all children with autism, most children have some impairment
in ‘joint attention’ or ‘pretend play’.
• Joint attention is
“ the ability to use eye contact & pointing for the purposes of
sharing experiences with others ”.
(Develops by 18 mo)

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• CLINICAL FEATURES.
• Other precursor skills to joint attention that are often absent in
children with autism are
• Protoimperative pointing
“ Pointing to obtain an object of desire”
and
• Protodeclarative pointing
“ Pointing to an object of interest ,simply to have another
person share in the interest with him or her).

18. • Autistic Disorder Dr.Padmesh. V
• CLINICAL FEATURES.
Some children with autism
Make no eye contact and Show intermittent engagement
seem totally aloof. with their environment :
May make inconsistent eye contact,
smile, and hug.

19. • Autistic Disorder Dr.Padmesh. V
• CLINICAL FEATURES.
Varying verbal abilities
Nonverbal Have advanced speech,
imitate songs, rhymes.
-Most notable is the quality of speech and language.
-Speech may have an odd intonation.
-May be characterized by echolalia, pronoun reversal, nonsense
rhyming, other idiosyncratic language forms.

20. • Autistic Disorder Dr.Padmesh. V
• CLINICAL FEATURES.
Intellectual functioning
Mental retardation -Superior intellectual functioning in
select areas.
-Some show development in certain
skills.
-May even show areas of strength in
specific areas. Eg: puzzles,art,music.

21. • Autistic Disorder Dr.Padmesh. V
• CLINICAL FEATURES.
• Play skills are typically aberrant.
• Characterized by little symbolic play, ritualistic rigidity, and
preoccupation with parts of objects.
• Stereotypical body movements, a marked need for sameness,
and a very narrow range of interests.
• Often withdrawn . Spends hours in solitary play.
• Ritualistic behavior prevails, reflecting the child's need to maintain a
consistent, predictable environment.

22. • Autistic Disorder Dr.Padmesh. V
• CLINICAL FEATURES.
• Disruptions of routine  Tantrum-like rages.
• Eye contact is minimal or absent.
Sensitivity to stimuli
Heightened sensitivity Lowered sensitivity
to some stimuli to other stimuli.
(Visual scanning of hand and (Diminished responses to pain
finger movements, and lack of startle responses
mouthing of objects, to sudden loud noises)
and rubbing of surfaces)

23. • Autistic Disorder Dr.Padmesh. V
• NEUROANATOMIC FINDINGS.
• Retrospective analysis of Head circumference & MRI studies, have
shown differences in brain structure in autism.
• Abnormal neurochemical findings also associated; Dopamine,
catecholamine, and serotonin levels or pathways implicated.
• Head circumference in Autistic children:
• AT BIRTH, UPTO 2 MONTHS AGE: Normal or slightly smaller than
normal.
• FROM 6-14 MONTHS, UPTO END OF 2ND YEAR: Abnormally rapid
increase in head circumference.

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• NEUROANATOMIC FINDINGS.
• MRI studies in autistic children:
• At 2–4 yr of age: Increased brain volume (increased volume of
cerebellum, cerebrum, and amygdala.)
• Abnormal growth in first 2 yr is most marked in frontal, temporal,
cerebellar, and limbic regions of the brain, the areas of brain
responsible for higher-order cognitive, language, emotional, and
social functions, which are most impaired in autism.
• This period of early, accelerated brain growth stops early in childhood
and is followed by abnormally slow or arrested growth
Areas of underdeveloped & abnormal circuitry in parts of brain.

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DIAGNOSIS OF AUTISM

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• DIAGNOSIS.
• Hallmark of Autistic Spectrum Disorders: Aberrant social skill
development.
• Early social skill deficits:
-Abnormal eye contact, -Failure to orient to name,
-Lack of interactive play, -Lack of sharing,
-Failure to smile, -Lack of interest in other children
-Failure to use gestures to point or show
• Combined language and social delays and regression in language or
social milestones are important early red flags for ASD.

27. • Autistic Disorder Dr.Padmesh. V
• DIAGNOSIS.
• Early signs :
• Unusual use of language or loss of language skills,
• Nonfunctional rituals,
• Inability to adapt to new settings,
• Lack of imitation, and
• Absence of imaginary play.
• Absence of expected social, communication & play behaviors
precedes
Emergence of odd or stereotypical behaviors or unusual language.

28. • Autistic Disorder Dr.Padmesh. V
• DIAGNOSIS: Screening tools for early detection.
• Checklist for Autism in Toddlers (CHAT):
• Screening tool for 18 mo old children in primary care settings.
• CHAT combines parent responses + direct observation in Clinic.
• High positive predictive value, but low sensitivity.
• Modified Checklist for Autism in Toddlers (M-CHAT):
• 23-item parent questionnaire.
• Good sensitivity and specificity (0.87% and 0.99%, respectively).

29. • Autistic Disorder Dr.Padmesh. V
• DIAGNOSIS: Screening tools for early detection.
• Pervasive Developmental Disorders Screening Test (PDDST):
• Parent-completed survey for children from birth–3 yr of age.
• Incorporates 3-tiered approach:
-1 for the primary care clinic,
-1 for the developmental clinic, and
-1 for the multidisciplinary autism clinic.
• All 3 tiers measure aspects of language, social skills, pretend play,
attachment, sensory responses, and motor stereotypies.

30. • Autistic Disorder Dr.Padmesh. V
• DIAGNOSIS.
• Intelligence, as measured by conventional psychologic testing, falls in
the functionally retarded range;
• Deficits in language and socialization make it difficult to obtain an
accurate estimate of intellectual potential.
• Some autistic children perform adequately in nonverbal tests.
• Those with developed speech may show adequate intellectual
capacity.

31. • Autistic Disorder Dr.Padmesh. V
• DIAGNOSIS.
• “Lack of a theory of mind.”
• Autistic children show deficits in understanding what the other
person might be feeling or thinking:
• “Lack of central coherence”
• On some psychologic tests, they pay more attention to specific
details, while overlooking the entire gestalt of the object.

32. • Autistic Disorder Dr.Padmesh. V
• DIAGNOSIS.
• Physical examination.
• Head circumference.
• 25% of ASD have macrocephaly, but may not be apparent until after
2nd yrs age.
• In the absence of dysmorphic features or focal neurologic signs,
additional neuroimaging for investigation of the macrocephaly is not
indicated.
• Audiologic evaluation;
• Speech and language evaluation;

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• DIAGNOSIS.
• Look for other physical stigmata.
• Examination of skin with a Wood lamp for hypopigmented lesions of
Tuberous sclerosis.
• Look for dysmorphic features of
-Fragile X syndrome (long face, large ears, large testes)
-Angelman syndrome (ataxic gait, broad mouth)

34. • Autistic Disorder Dr.Padmesh. V
• DIAGNOSIS.
• Check Lead level if child shows pica etc.
• Chromosomal analysis if child has mental retardation / dysmorphic
features;
• EEG in developmental regression or seizures.

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TREATMENT OF AUTISM – Solving the puzzle..

36. • Autistic Disorder Dr.Padmesh. V
• TREATMENT.
• Intensive behavioral therapy
-beginning before 3 yr of age
-targeted toward speech & language development
• Eg: Early intensive interventions 40 hr/wk of 1:1 behavioral training
with young children for 2 yr.

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• TREATMENT.
• Training focuses on acquisition of compliance behavior, imitation
activities, language acquisition, and integration with peers.
• Treatment aimed towards individual's particular behavior patterns
and language function.
• Parent education, training, and support.
• Pharmacotherapy for certain symptoms.

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• TREATMENT.
• Require alternate educational approaches, even when language
capacity is near normal.
• A successful educational model is the program for “Treatment and
Education of Autistic and Related Communication Handicapped
Children (TEACCH)”.

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• TREATMENT.
• “TEACCH”
• The following treatment principles are emphasized:
• Use of objective measures like Childhood Autism Rating Scale (CARS),
to measure behavior and behavioral change;
• Enhancement of skills,
• Use of interventions based on cognitive and behavioral theories;
• Use of visual structures for optimal education,
• Multidisciplinary training for all professionals working with autistic
children.
• Educational programming should begin as early
as possible, preferably by age 2–4 yr.

40. • Autistic Disorder Dr.Padmesh. V
• TREATMENT.
• Older children with relatively higher intelligence, but with poor social
skills and psychiatric symptoms (depression, anxiety, obsessive-
compulsive disorder) may require psychotherapy, behavioral or
cognitive behavioral therapy, and pharmacotherapy.
• Typically, behavior modification is a major part of the overall
treatment for older children with autism.
• These procedures include enhancement (rewards emphasizing
appropriate choice) and reduction (extinction, time-out,
punishment).
• Social skill training.

41. • Autistic Disorder Dr.Padmesh. V
• TREATMENT.
• For psychiatric symptoms: Pharmacotherapy to ameliorate target
behaviors like hyperactivity, tantrums, physical aggression, self-
injurious behavior, stereotypies, and anxiety symptoms, especially
obsessive-compulsive behaviors.
• Older neuroleptics: Extrapyramidal symptoms, tardive dyskinesia.
• Atypical neuroleptics (risperidone, olanzapine): Effective.

42. • Autistic Disorder Dr.Padmesh. V
• TREATMENT.
• Clomipramine (TCA) reduces compulsions and stereotypies.
• However, it
-lowers seizure threshold,
-can cause agranulocytosis, and
-has cardiotoxic and behavior toxicity effects.
• Other medications:
• Stimulants,
• Selective serotonin reuptake inhibitors (SSRIs)
(may diminish agitation, OCD, hyperactivity)
• Clonidine.

43. • Autistic Disorder Dr.Padmesh. V
• PROGNOSIS.
• Better prognosis:
• Higher intelligence, functional speech, and less bizarre symptoms and
behavior  better prognosis. [may grow up to live self-sufficient,
employed life in community.(though isolated) ]
• Early intensive therapy
• Bad prognosis:
• Many have bad prognosis, & remain dependent on family for their
everyday needs.
• Delayed diagnosis leads to poor outcome.

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• PROGNOSIS.
• Symptom profile for some children may change as they grow older
and seizures or self-injurious behavior becomes more common.

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