Autism mo29

Pervasive Developmental Disorder (PDD) Dr. Rismarini, SpA

Introduction The term PDD denotes a group of disorders with the common findings of :  Impairment of socialization skill,  Speech & language deficits  Characteristic behavioral abnormalities

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

Introduction Autism is a behavioral syndrome of neurologic dysfunction, characterized 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

Etiology

 No

known etiology can be found in

80 – 90 % case

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  Age of onset : 25 % in the 1st yr. 50 % in the 2nd yr, 25 % after 2 yr 

Risk factors Genetics  Brain disease (TORCH infections)  Developmental 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 ed 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 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  Hyper or hypoactivity

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 impairment 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 A.

Early intervention : Special education  communication therapy  social skill  behavioral management occupational therapy sensory integration intervention

Management B. Atyphical antipsychotic medications.  Risperidon 2 x 0,1 mg,  Haloperidol 0,25 – 3 mg/kgBW/day,  Thioridazine 0,5 – 3 mg/kgBW/day C. Diet casein and glutein free. D. for families

Prognosis Autism is lifelong disorder. Major determinant of prognosis are :  Presence or absence of an underlying disease 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