autism.. dr.padmesh

Dr.Padmesh. V

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

Dr.Padmesh. V

Pervasive developmental disorders

Dr.Padmesh. V

• 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.

Dr.Padmesh. V

AUTISTIC DISORDER

Dr.Padmesh. V

Dr.Padmesh. V• Autistic Disorder : Introduction :• 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 .

Dr.Padmesh. V• Autistic Disorder : Introduction :• 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.

Dr.Padmesh. V• Autistic Disorder : Introduction :• 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).

Dr.Padmesh. V• Autistic Disorder : Introduction :• 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.

Suggesting X-linked component.

Dr.Padmesh. V• Autistic Disorder

Dr.Padmesh. V• Diagnostic Criteria for Autism:• 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




a. Marked impairment in use of multiple nonverbal behaviors, such as eye-to-eye gaze, facial expression, body postures, and gestures to

regulate social interaction b. Failure to develop peer relationships appropriate to developmental

level c. Lack of spontaneous seeking to share enjoyment, interests, or

achievements with other people (e.g., by a lack of showing, bringing, or pointing out objects of interest)

d. Lack of social or emotional reciprocity




a. Delay in, or total lack of, development of spoken language (not accompanied by an attempt to compensate through alternative modes

of communication, such as gesture or mime) b. In individuals with adequate speech, marked impairment in ability

to initiate or sustain a conversation with others c. Stereotyped & repetitive use of language or idiosyncratic language

d. Lack of varied, spontaneous make-believe play or social imitative play appropriate to developmental level




a. Encompassing preoccupation with ≥1 stereotyped and restricted pattern of interest that is abnormal in either 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 precoccupation with parts of objects

Dr.Padmesh. V• Autistic Disorder• 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.

Dr.Padmesh. V• Autistic Disorder• 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)

Dr.Padmesh. V• Autistic Disorder• 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).


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.


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.

Dr.Padmesh. V• Autistic Disorder• 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.

Dr.Padmesh. V• Autistic Disorder• 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.

Dr.Padmesh. V• Autistic Disorder• 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)

Dr.Padmesh. V• Autistic Disorder• 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.

Dr.Padmesh. V• Autistic Disorder• 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.

Dr.Padmesh. V

DIAGNOSIS OF AUTISM

Dr.Padmesh. V• Autistic Disorder• 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.

Dr.Padmesh. V• Autistic Disorder• 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.

Dr.Padmesh. V• Autistic Disorder• 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).

Dr.Padmesh. V• Autistic Disorder• 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.

Dr.Padmesh. V• Autistic Disorder• 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.


• “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.

Dr.Padmesh. V• Autistic Disorder• 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;


• 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)


• Check Lead level if child shows pica etc.

• Chromosomal analysis if child has mental retardation / dysmorphic features;

• EEG in developmental regression or seizures.

Dr.Padmesh. V

TREATMENT OF AUTISM – Solving the puzzle..

Dr.Padmesh. V• Autistic Disorder• 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.

Dr.Padmesh. V• Autistic Disorder• 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.

Dr.Padmesh. V• Autistic Disorder• 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)”.

Dr.Padmesh. V• Autistic Disorder• 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.

Dr.Padmesh. V• Autistic Disorder• 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.

Dr.Padmesh. V• Autistic Disorder• 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.

Dr.Padmesh. V• Autistic Disorder• 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.

Dr.Padmesh. V• Autistic Disorder• 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.

Dr.Padmesh. V• Autistic Disorder• PROGNOSIS. • Symptom profile for some children may change as they grow older

and seizures or self-injurious behavior becomes more common.

Dr.Padmesh. V

Dr.Padmesh. V

Thank you!

autism.. dr.padmesh

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