IT 14_SYA Autism.ppt

Autism

Dr. Rismarini, SpA

IntroductionAutism 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 :AutismAsperger disorderPDD Not Otherwise Specified (PDD-NOS)Childhood Disintegratif disorderRett syndrom

EpidemiologyPrevalence 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

EtiologyNo known etiology can be found in 80 90 % case

Risk factors

GeneticsBrain disease (TORCH infections)Dev. Brain abnormalities (microcephaly, hydrocephalus)Metabolic diseases (PKU, MPS)Postnatally acquired destructive disorder (Encephalitis, Meningitis)Lead encephalopathyNeoplasmGenetic 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 abnormalitiesAbnormal neurochemical findings abberant of dopamine functioning increased level of serotoninAbnormal neuroradiologic findings deficit in RAS structural cerebellar changes forebrain hippocampal lesion abnormalities in the prefrontal & temporal lobes area

Clinical ManifestationSevere 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 lifeIn todlers, deficiencies in imitative play and a relative lack of interest in interactions with othersEye contact is minimal or absent

Clinical manifestationImpairments in communicationLanguage development is quite delayed, nondeveloped or poorly developed verbal and nonverbal communication sklills EcholalicAbnormalities in speech patternImpaired ability to sustain a conversation

Clinical manifestationBehavioral peculiarities, Stereotypical body movements, restrictive, and repetitive pattern of behavior (twirling, hand-flapping)A marked need for samenessSelf-injurious behaviorTempertantrum

Clinical manifestationAbnormal patterns of eating and sleepingUnpredictable mood changesBizzare responses to sensory stimuliMouthing of objectsDiminished responses to painAbout 60 - 70% have IQ below 70

Diagnosis1. 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

Diagnosis2. 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

Diagnosis3. 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 DiagnosisHearing impairmentDevelopmental language disorderAsperger disorderPDD-NOSRetts syndromeChildhood disintegrative disorderSchizophreniaUndifferentiated mental retardation

Asperger disorderImpairments in social interaction and restricted interest/ repetitive behavior

Should not have significant delays in cognitive, language, or self-help skills

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

Childhood disintegrated disorderTypical development for at least 2 years followed by regression in at least 2 of the following 3 areas : Social interactionCommunicationBehavior

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

ManagementEarly intervention : Special education communication & social skill behavioral managementoccupational therapysensory integration intervention diet terapiB. Antipsychotic medications.- Risperidon, haloperidol, pemolineC. Support for families

PrognosisAutism is lifelong disorder.Major determinant of prognosis are :Presence or absence of an underlying dis. of the brain and its acceptability to treatmentSpeech by age 5 yearsIntelligence

Prognosis5 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

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