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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 )
Etiology
No
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
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