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Brandeis NBIO 146A - Autism

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Slide 1Slide 2Slide 3Slide 4Slide 5Slide 6Slide 7Slide 8Slide 9Slide 10Slide 11Slide 12Slide 13Slide 14Slide 15Slide 16Slide 17Slide 18Slide 19Slide 20Slide 21Slide 22Slide 23Slide 24Slide 25Slide 26Slide 27Slide 28Slide 29Slide 30Slide 31Slide 32Slide 33Slide 34Slide 35Slide 36Slide 37Slide 38Slide 39AutismA spectrum of neuropsychiatric disorders characterized by deficits in social interaction and communication, and unusual and repetitive behavior.http://www.medterms.com/script/main/art.asp?articlekey=2399Autism is a Pervasive Developmental Disorder (PDD)Who, what, when where why?The human brain-normal and abnormal developmentGeneticsLanguage and cognitionSocial implicationsInterventions and therapiesWhat is a developmental disorder/disability?Birth defectsDevelopmental Disabilities-Cerebral palsy-Down’s syndrome-Learning disabilities and ADHD-Autism and PDDs-Spina bifida-Heart defects-Cleft palate/club foot-Tay Sachs diseasePervasive developmental disordersa group of disorders that are characterized by : impairments in social interaction, impairment in verbal and nonverbal communication, and a restrictive,stereotypic pattern of behaviourswww.oafccd.com/factshee/fact59.htmAutismAsperger’s Rett’s SyndromeChildhood disintegrative disorderPDD-NOSCharacteristics of Autism (1)-Impaired social interactions-Social aloneness that is distinct from shyness-Impaired communication, symbolic play-Repetitive, stereotyped behaviorsexamples: hand flapping, turning, stacking objects-Restricted interests and activities (singlemindedness)-Lack of common sense-Insistence on sameness-Spotty intellectual achievements-Difficulties with symbolization and abstractionCharacteristics of Autism (2)-Delays present before age 3-More prevalent in boys-Often associated with mental retardation-Associated with other disorders- notably epilepsy-Diagnosis is based on behavioral tests!DSM-IV Criteria for Autistic DisorderDiagnostic and Statistical Manual of Mental Disorders, 4th edition,1994, Washington, DC: American Psychiatric Association, pp. 70-71.A. A total of at least six items from (1), (2), and (3), withat least two from (1), and one each from (2) and (3):(1) Qualitative impairment in social interaction, asmanifested by at least two of the following:(a) Marked impairment in the use of multiplenonverbal behaviors such as eye-to-eye gaze,facial expression, body postures, and gestures toregulate social interaction;(b) Failure to develop peer relationshipsappropriate to developmental level;(c) Markedly impaired expression of pleasure inother peopleÕs happiness;(d) Lack of social or emotional reciprocity.DSM-IV Criteria for Autistic Disorder(2) Qualitative impairments in communication asmanifested by at least one of the following:(a) Delay in, or total lack of, the development ofspoken language (not accompanied by an attemptto compensate through alternative modes ofcommunication such as gestures or mime);(b) In individuals with adequate speech, markedimpairment in the ability to initiate or sustain aconversation with others;(c) Stereotyped and repetitive use of language oridiosyncratic language;(d) Lack of varied spontaneous make-believe play orsocial imitative play appropriate todevelopmental level.DSM-IV Criteria for Autistic Disorder(3) Restricted repetitive and stereotyped patterns ofbehavior, interests, and activities, as manifested by atleast one of the following:(a) Encompassing preoccupation with one or morestereotyped and restricted patterns of interest thatis abnormal either in intensity or focus;(b) Apparently compulsive adherence to specificnonfunctional routines or rituals;(c) Stereotyped and repetitive motor mannerisms(e.g. hand or finger flapping or twisting, orcomplex whole-body movements);(d) Persistent preoccupation with parts of objects.DSM-IV Criteria for Autistic DisorderB. Delays or abnormal functioning in at least one of thefollowing areas, with onset prior to age 3 years; (1)social interaction, (2) language as used in socialcommunication, or (3) symbolic or imaginative play.C. Not better accounted for by RettÕs Disorder ofChildhood Disintegrative Disorder.A little history…First reports: Leo Kanner (1943), Hans Asperger (1944)-Impairments in social interactions-Resistance to changes-Oversensitivity to some stimuli (sound)Aspects of the original report that have been refuted-Parent were successful educationally or professionally-Problems relationships between parent and children(Refrigerator mothers!)-Not related to other medical conditions-No mental retardationA little history…1950s- Autism is an early form of schizophrenia-In 1971 Kolvin demonstrated a bimodal onset among a largegroup of ÒpsychoticÓ children- early onset in 1-2 years, lateronset after many years of normal behavior-Early onset showed impairments in social, cognitive andlanguage (autism-like), no increased schizophrenia in families-Later onset showed delusions, hallucinations and other featuresof schizophrenia-Autism differed from schizophrenia in time of onset, clinicalfeatures, course, outcome and family historyEpidemiology of autism-First epidemiological studies in England in the 1960s-Since then more than 30 studies in many countries-All have used a definition of autism that included severeimpairment in communication, language, socialinteractions, play and behavior-BUT- the criteria for autism diagnosis has changed over time-Studies range from 1966 to 2001-Range in size of different studies is huge826 Ğ 899,750-In general smaller studies give higher prevalence-Total number of children surveyed is around 5 millionEpidemiology of autismRates of autism-Prevalence estimates range from 0.7/10,000 to 72.6/10,000-Prevalence rates higher with smaller sample size-average prevalence 10/10,000Mental retardation-Assessment of intellectual function in 20/32 studies-30% showed no intellectual impairment (6.6-100%)Gender-male/female sex ratio averaged 4.3 over all studies-Range 1.33 to 16-No study ever identified more girls than boys-Gender difference greater in non-mentally retarded subjects5.75 to 1 in normal intellectual function group2:1 in groups with mental retardationNeuropathologyIncreased head size-Kanner described large heads in some children with autism-Macrocephaly found in 20% of autistic individuals-Not present in the first year of life-Consistent with finding of increased brain weight-Recent studies suggest that increases are transient (2-4 yrs)-Neuroimaging has shown increased brain


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