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Autism

Dr. Rismarini, SpA

Introduction
Autism is a behavioral syndrome of neurologic dysfunction, ccharacterized by : Qualitative impairments in reciprocal social interaction, Qualitative impairments in verbal & nonverbal communication, Presence of stereotypic, restrictive, and repetitive patterns of behavior, interest, and activities

Currently grouped under Pervasive Developmental Disorders (PDDs) in the DSM-IV : Autism Asperger disorder PDD Not Otherwise Specified (PDD-NOS) Childhood Disintegratif disorder Rett syndrom

Epidemiology

Prevalence is 16 - 40 cases/10.000 schoolaged children, More boys than girls are affected (3-4 : 1 )

No predilection for any racial, ethnic, or socioeconomic group

Etiology

No

known etiology can be found in

80 90 % case

Risk factors
Genetics Brain disease (TORCH infections) Dev. Brain abnormalities (microcephaly, hydrocephalus) Metabolic diseases (PKU, MPS) Postnatally acquired destructive disorder (Encephalitis, Meningitis) Lead encephalopathy Neoplasm Genetic disorder (Tuberous sclerosis, fragile X Syndrome)

Although

there has been much debate over the past decade about possible link between vaccines or dietary factors and the onset of ASD, research studies have not supported these as causal factors

Brain abnormalities

Abnormal neurochemical findings abberant of dopamine functioning increased level of serotonin Abnormal neuroradiologic findings deficit in RAS structural cerebellar changes forebrain hippocampal lesion abnormalities in the prefrontal & temporal lobes area

Clinical Manifestation
Severe deficit in reciprocal social interaction, eg. Delayed or absent social smile, failure to antisipate interaction with caregivers, lack of attention to a primary caregivers are often evident in the first year of life In todlers, deficiencies in imitative play and a relative lack of interest in interactions with others Eye contact is minimal or absent

Clinical manifestation
Impairments in communication Language development is quite delayed, nondeveloped or poorly developed verbal and nonverbal communication sklills Echolalic Abnormalities in speech pattern Impaired ability to sustain a conversation

Clinical manifestation
Behavioral peculiarities, Stereotypical body movements, restrictive, and repetitive pattern of behavior (twirling, hand-flapping) A marked need for sameness Self-injurious behavior Tempertantrum

Clinical manifestation
Abnormal patterns of eating and sleeping Unpredictable mood changes Bizzare responses to sensory stimuli Mouthing of objects Diminished responses to pain About 60 - 70% have IQ below 70

Diagnosis
1. Impaired reciprocal social interaction (at least 2). - Lack of social or emotional reciprocity - Impaired ability to make peer friendships - Lack of seeking of share enjoyment or interest - Absent or impaired imitation - Absent or abnormal social play

Diagnosis

2. Impaired communication and imaginative activities (at least 1) - Absent communication - Abnormal nonverbal communication - Absent imaginative activity - Abnormal speech production - Abnormal speech content - Inability to initiate or sustain conversation

Diagnosis

3. Restricted repertoire of activities & interest (at least 1) - Stereotiped body movements - Persistent preoccupation with object - Distress with environmental change - Insistence on following routines - Restricted range of interest

Differential Diagnosis
Hearing impairment Developmental language disorder Asperger disorder PDD-NOS Retts syndrome Childhood disintegrative disorder Schizophrenia Undifferentiated mental retardation

Asperger disorder

Impairments in social interaction and restricted interest/ repetitive behavior Should not have significant delays in cognitive, language, or self-help skills

PDD-NOS
Impairment in reciprocal social interaction along with ipairment in communication skills, or restricted interest or repetitive behaviors Do not meet full criteria for autism due to mild or atypical symptoms

Childhood disintegrated disorder


Typical development for at least 2 years followed by regression in at least 2 of the following 3 areas : Social interaction Communication Behavior

Rett syndrome
A genetic syndrome caused by mutation on the X chromosome Affecting girls almost exclusively Development proceeds normally until 1 years, at which time language & motoric development regress and microcephaly becomes appearant

Management
Early intervention : Special education communication & social skill behavioral management occupational therapy sensory integration intervention diet terapi B. Antipsychotic medications. - Risperidon, haloperidol, pemoline C. Support for families
A.

Prognosis
Autism is lifelong disorder. Major determinant of prognosis are : Presence or absence of an underlying dis. of the brain and its acceptability to treatment Speech by age 5 years Intelligence

Prognosis

5 10 % will become independent adults 25 % will show notable developmental progress 65-70 % will continue to be substantially impaired and required a high level of going care