Autism UpdateAutism Update

M. Ellen Gellerstedt, MD, FAAPM. Ellen Gellerstedt, MD, FAAP

Eastern Maine Medical CenterEastern Maine Medical Center

May 12, 2009May 12, 2009

AutismAutism

Complex neurobehavioral disorder Complex neurobehavioral disorder characterized by:characterized by:

• Impairment in social interactionImpairment in social interaction• Impairment in communicationImpairment in communication• Restricted, perseverative Restricted, perseverative

behaviors, interests, and activitiesbehaviors, interests, and activities

Autism: DSM-IVAutism: DSM-IV•Qualitative impairment in social Qualitative impairment in social

interaction as shown by at interaction as shown by at least two (2) of the following:least two (2) of the following: Marked impairment in nonverbal Marked impairment in nonverbal

behaviorsbehaviors Failure to form developmentally Failure to form developmentally

appropriate relationshipsappropriate relationships Lack of spontaneous seeking to share Lack of spontaneous seeking to share

enjoyment, interests, or achievements enjoyment, interests, or achievements with other peoplewith other people

Lack of social or emotional reciprocityLack of social or emotional reciprocity

Autism Diagnosis DSM-IVAutism Diagnosis DSM-IV Qualitative Impairment in Qualitative Impairment in

communication as manifested by communication as manifested by at least one of the following:at least one of the following:• Spoken language or gestureSpoken language or gesture• Ability to initiate or sustain a conversationAbility to initiate or sustain a conversation• Stereotyped and repetitive use of Stereotyped and repetitive use of

language or idiosyncratic languagelanguage or idiosyncratic language• Lack of varied make-believe play or social Lack of varied make-believe play or social

imitative play appropriate to imitative play appropriate to developmental level.developmental level.

Autism Diagnosis DSM-IVAutism Diagnosis DSM-IV Restricted repetitive and Restricted repetitive and

stereotyped patterns of behavior, stereotyped patterns of behavior, interests, and activities, as interests, and activities, as manifested by at least one of the manifested by at least one of the following:following:• Stereotyped and restricted patterns of Stereotyped and restricted patterns of

interestinterest• Adherence to specific, nonfunctional Adherence to specific, nonfunctional

routines or ritualsroutines or rituals• Stereotyped and repetitive motor Stereotyped and repetitive motor

mannerisms mannerisms • Preoccupation with parts of objectsPreoccupation with parts of objects

Pervasive Developmental Pervasive Developmental DisordersDisorders

Autistic Disorder (299.00)Autistic Disorder (299.00) Asperger’s Disorder (299.80) Asperger’s Disorder (299.80) Pervasive Developmental Pervasive Developmental

Disorder, NOS (299.80)Disorder, NOS (299.80) Rett Syndrome (299.80)Rett Syndrome (299.80) Childhood Disintegrative Childhood Disintegrative

Disorder (299.10)Disorder (299.10)

Autism Spectrum Disorders – Autism Spectrum Disorders – confusing terminologyconfusing terminology

PDD vs. PDD, NOSPDD vs. PDD, NOS Asperger vs High Functioning Asperger vs High Functioning

AutismAutism Autism with or without mental Autism with or without mental

retardationretardation Autism Spectrum DisorderAutism Spectrum Disorder

Explanatory ModelsExplanatory Models Theory of MindTheory of Mind Mind BlindnessMind Blindness OthersOthers

Etiology of AutismEtiology of Autism Probably no single etiologyProbably no single etiology Approximately 10% may be Approximately 10% may be

behavioral profile associated with behavioral profile associated with specific condition – e.g. Tuberous specific condition – e.g. Tuberous Sclerosis, Fragile X syndrome, Sclerosis, Fragile X syndrome, untreated phenylketonuria, othersuntreated phenylketonuria, others

Probably more than one gene Probably more than one gene responsible for vulnerabilityresponsible for vulnerability

Etiology of AutismEtiology of Autism Likely interplay of genetic Likely interplay of genetic

predisposition and precipitating predisposition and precipitating event(s)event(s)

EnvironmentalEnvironmentalInfectiousInfectiousImmunologicImmunologicOtherOther

Large multisite studies underway to Large multisite studies underway to further investigate causesfurther investigate causes

What you are looking forWhat you are looking for Atypical use of Atypical use of

non-verbal non-verbal behaviorsbehaviors• Eye gazeEye gaze• GesturesGestures• Facial expressionFacial expression

What you are looking forWhat you are looking for Impaired Spontaneous Impaired Spontaneous

seeking to share seeking to share enjoymentenjoyment

Joint AttentionJoint Attention

What you are looking forWhat you are looking for

Restricted Restricted interests, interests, stereotypies, and stereotypies, and repetitive repetitive behaviorsbehaviors

What you are looking forWhat you are looking for

Atypical Atypical development of development of spoken languagespoken language

Language regressionLanguage regression

EcholaliaEcholalia

Not turning to nameNot turning to name

What you are looking forWhat you are looking for

Atypical social and Atypical social and emotional emotional reciprocityreciprocity• Responding to Responding to

namename• Orient toward Orient toward

peoplepeople

SpecificallySpecifically

Does the child Does the child respond to parental respond to parental attentionattention

Does the child Does the child watch the parent watch the parent for social cuesfor social cues

Does the child Does the child respond to his/her respond to his/her namename

www.firstsigns.orgwww.firstsigns.orgOn the SpectrumOn the Spectrum

Thank YouThank You