PRINT 3 CAP1 2010 KRASUSKI Pervasive Dev Disorders BONUS - Pervasive Developmental...© 2009-2010 Krasuski ... psychiatry because of a change in her behavior ... Lack of makeLack of

Pervasive Developmental Disorders Section 3

© 2009-2010 Krasuski

www.BeatTheBoards.com 877-225-8384 1

American Physician Institute for Advanced Professional Studies LLC

Pervasive Developmental Disorders

American Physician Institute forAmerican Physician Institute for

Advanced Professional StudiesAdvanced Professional Studies

Jack Krasuski, MDJack Krasuski, MD

[email protected]@AmericanPhysician.com

2

Lecture Organization

�� Overview of PDDOverview of PDD

�� For Each Disorder For Each Disorder

��Epidemiology Epidemiology

��EtiologyEtiology

��Diagnosis and Clinical FeaturesDiagnosis and Clinical Features

��Course / PrognosisCourse / Prognosis

��Differential DiagnosisDifferential Diagnosis

��AssessmentAssessment

��Treatment PlanTreatment Plan

3

Question: A child’s ability to engage

another's attention to share enjoyment of

objects or events is known by which of the

following terms?

A.A. Parallel playParallel play

B.B. Joint attentionJoint attention

C.C. Sensory integrationSensory integration

D.D. Modal expressionModal expression

E.E. Applied social abilityApplied social ability

4

Question: Which of the following are not

considered “signs of concern” for

developmental delay or PDD in a 12 month

child?

A.A. No babblingNo babbling

B.B. No pointingNo pointing

C.C. No gesturesNo gestures

D.D. No two word phrasesNo two word phrases

E.E. Loss of language skills Loss of language skills




5

Question: Janet is a 4 ½ year old girl starting

second year of preschool who is referred to

psychiatry because of a change in her behavior

since the end of last preschool year. She now

engages in self-stimulation, appears to be reacting

to hallucinations, points to objects rather than

naming them, and kicks and screams when

frustrated. What is Janet’s most likely diagnosis?

A.A. Asperger’s DisorderAsperger’s Disorder

B.B. Autistic Disorder Autistic Disorder

C.C. Childhood Disintegrative DisorderChildhood Disintegrative Disorder

D.D. Oppositional Defiant DisorderOppositional Defiant Disorder

E.E. Rett’s DisorderRett’s Disorder 6

Question: Which is the most appropriate

therapy for a child with Autism?

A.A. Anger Management TherapyAnger Management Therapy

B.B. Applied Behavior AnalysisApplied Behavior Analysis

C.C. Mentalization TherapyMentalization Therapy

D.D. Multisystem TherapyMultisystem Therapy

E.E. Trauma Focused Cognitive Behavioral Trauma Focused Cognitive Behavioral

TherapyTherapy

7

Question: Michelle is a 9 yr old girl who spends hours

lining up her collection of dinosaurs. She attends special

education classes and remains 2 grade levels below in

language and math performance. She did not begin

speaking intelligibly until age 6. She shuns interactive

play with children and prefers the company of adults.

She likes to repeat verbatim sections of her favorite

female newscaster’s presentation from last evening’s

news. What is Michelle’s most likely diagnosis?

A.A. Autistic DisorderAutistic Disorder

B.B. Asperger’s DisorderAsperger’s Disorder


D.D. Reading and Mathematics Disorders Reading and Mathematics Disorders


Question: Michael is a 3 year old boy with no

evident dysmorphisms, who has clinical features

of autism. As part of his work up, a DNA test is

performed. The report states that 250 CGG

repeats are identified on the FMR-1 gene.

Michael’s most likely diagnosis is which of the

following?


B.B. Down’s SyndromeDown’s Syndrome

C.C. Fragile X SyndromeFragile X Syndrome

D.D. Marfan’s SyndromeMarfan’s Syndrome

E.E. Tuberous Sclerosis ComplexTuberous Sclerosis Complex




9

PDD: DSM-IV Disorders

�� Autistic Disorder Autistic Disorder

�� Asperger's DisorderAsperger's Disorder

�� Rett's DisorderRett's Disorder

�� Childhood Disintegrative DisorderChildhood Disintegrative Disorder

�� PDD PDD -- NOSNOS

10

Autism Disorder: Epidemiology

�� PrevalencePrevalence

��Autism Spectrum Disorders: 9/1000 childrenAutism Spectrum Disorders: 9/1000 children11

��Autism: 4Autism: 4--5/1000 children 5/1000 children –– 47% of total ASD47% of total ASD11

��4:1 M:F ratio 4:1 M:F ratio

��Previous Findings 4Previous Findings 4--5/10,0005/10,00022

�� Autism Spectrum Disorders FeaturesAutism Spectrum Disorders Features11

��MR = 41% MR = 41%

��Regression by age of 2) = 13Regression by age of 2) = 13--30% 30%

��Average age of first diagnosis = 4 ½ yearsAverage age of first diagnosis = 4 ½ years

1. MMWR, 2009; 2. Fombonne, 1999

Autism: Twin Concordance Rates

�� Concordance Rates in Twin StudiesConcordance Rates in Twin Studies

��Monozygotic: 60%Monozygotic: 60%

��Dizygotic: 5%Dizygotic: 5%

��MZ / DZ concordance ratio: MZ / DZ concordance ratio: ~ ~ 10:110:1

��Means Autism is a highly genetic disorderMeans Autism is a highly genetic disorder

��Even discordant twin often had communication Even discordant twin often had communication problems and stereotypiesproblems and stereotypies

11 12

Broader Autism Phenotype (BAP)

�� Families of autism probands have much Families of autism probands have much higher rates of conditions less severe than higher rates of conditions less severe than but phenotypically similar to autism.but phenotypically similar to autism.

��Slow language developmentSlow language development

��Learning disabilitiesLearning disabilities

��Shyness / social awkwardness Shyness / social awkwardness

��AnxietyAnxiety

��Affective disturbancesAffective disturbances

�� BAP found in 15BAP found in 15--45% of family members 45% of family members of people with autismof people with autism




13

Autism Disorder: Primary Etiology

90-95%

�� Autism is a highly genetic disorder but …Autism is a highly genetic disorder but …

��NonNon--Causal Susceptibility Loci: Combined effect Causal Susceptibility Loci: Combined effect

of multiple loci (genes) each of which makes a of multiple loci (genes) each of which makes a

weak contributionweak contribution

��Therefore, in most cases specific mutation cannot Therefore, in most cases specific mutation cannot

be identified yetbe identified yet

�� Also, contribution from environmental Also, contribution from environmental

exposuresexposures

Autism: Secondary Etiologies 5-10%

�� Recognized Teratogens: Recognized Teratogens:

��Lead and mercuryLead and mercury

��Thalidomide (Thalomid)Thalidomide (Thalomid)

��Misoprostol (Cytotec): to reduce risk of ulcers Misoprostol (Cytotec): to reduce risk of ulcers

from NSAIDS; abortifacient; autism riskfrom NSAIDS; abortifacient; autism risk

��Valproic Acid: 11% autism risk!Valproic Acid: 11% autism risk!

�� Infections: Rubella, Toxoplasma, Infections: Rubella, Toxoplasma,

CytomegalovirusCytomegalovirus

�� Defined Genetic Disorders: Fragile X, Defined Genetic Disorders: Fragile X,

Tuberous SclerosisTuberous Sclerosis14

15

Autism: Refuted Etiologies

�� No AssociationNo Association

��No evidence linking to vaccinesNo evidence linking to vaccines

��No evidence linking to mercury in vaccinesNo evidence linking to mercury in vaccines

��No evidence of any "psychosocial" risk factorsNo evidence of any "psychosocial" risk factors

��No evidence for dietary contribution: gluten or No evidence for dietary contribution: gluten or

casein casein

Autistic boy

lining up

sandcastles 16

Autism: Types

�� Complex Autism: Autism syndrome Complex Autism: Autism syndrome withwith

physical abnormalitiesphysical abnormalities

��Dysmorphic featuresDysmorphic features

��Microcephaly or macrocephaly Microcephaly or macrocephaly

��Structural brain malformationsStructural brain malformations

�� Essential Autism: Autism syndrome Essential Autism: Autism syndrome withoutwithout

physical abnormalitiesphysical abnormalities




17

Autism: Onset & Course

�� OnsetOnset

��Early Onset: 70%Early Onset: 70%

��Regressive: 30%Regressive: 30%

�� CourseCourse

��Improved function in 25%: subsequent to Improved function in 25%: subsequent to

diagnosis at 2diagnosis at 2--3 years, they begin to talk and 3 years, they begin to talk and

communicate communicate

��Poor function in 75%: these individual remain Poor function in 75%: these individual remain

severely impairedseverely impaired18

Autism: DSM-IV Diagnosis

�� Symptoms: 6 symptoms in 3 categories: Symptoms: 6 symptoms in 3 categories:

Remember “3, 2, 1, 1” Remember “3, 2, 1, 1”

�� Social/communication problems before Social/communication problems before

age age 33

�� ≥ 2≥ 2 "Social" criteria"Social" criteria

�� ≥ 1≥ 1 "Communication" criterion"Communication" criterion

�� ≥ 1≥ 1 "Behavior Patterns" criterion"Behavior Patterns" criterion

19

Autism: Social Interaction

�� Impairment in social interaction (≥2)Impairment in social interaction (≥2)

A.A. Impaired multiple nonImpaired multiple non--verbal behaviors: eye verbal behaviors: eye

contact, facial expression, body postures, social contact, facial expression, body postures, social

gesturesgestures

B.B. Failure to develop peer relationshipsFailure to develop peer relationships

C.C. Lack of seeking to share experiences with other Lack of seeking to share experiences with other

people: lack of showing, bringing, or pointing to people: lack of showing, bringing, or pointing to

objects of interestobjects of interest

D.D. Lack of emotional reciprocityLack of emotional reciprocity

20

Autism: Communication

�� Impairment in Communication (≥ 1)Impairment in Communication (≥ 1)

A.A. Delayed or lacking spoken language without Delayed or lacking spoken language without compensatory communicationcompensatory communication

B.B. In kids with adequate speech, lack of initiating In kids with adequate speech, lack of initiating or maintaining conversationor maintaining conversation

C.C. Stereotyped, repetitive, or idiosyncratic use of Stereotyped, repetitive, or idiosyncratic use of languagelanguage

D.D. Lack of makeLack of make--believe or social imitative playbelieve or social imitative play




21

Autism: Behaviors

�� Restricted, repetitive, stereotyped behaviors Restricted, repetitive, stereotyped behaviors (≥ 1)(≥ 1)

A.A. Preoccupation with restricted patterns of Preoccupation with restricted patterns of interestinterest

B.B. Inflexible adherence to routinesInflexible adherence to routines

C.C. Motor mannerisms: hand flapping, finger Motor mannerisms: hand flapping, finger flicking, whole body movementsflicking, whole body movements

D.D. Preoccupation with parts of objectsPreoccupation with parts of objects

22

Autism & Mental Retardation

�� Autism and mental retardation are syndromes, Autism and mental retardation are syndromes,

each of which has heterogeneous etiologieseach of which has heterogeneous etiologies

�� Autism and MR may occur in single individual Autism and MR may occur in single individual

but need notbut need not

�� 5050--70% of autistic individuals have MR70% of autistic individuals have MR

��May need to test by nonverbal IQ testingMay need to test by nonverbal IQ testing

23

Autism: Neurological Signs

�� Sensory Disturbances Sensory Disturbances

�� HyperacusisHyperacusis

�� Distaste for artificial lightDistaste for artificial light

�� Self imposed narrow diets; focus on textureSelf imposed narrow diets; focus on texture

�� Insistence on certain clothing Insistence on certain clothing

�� Remarkably high pain thresholdRemarkably high pain threshold

�� Motor AbnormalitiesMotor Abnormalities

�� Hypotonia, hypertoniaHypotonia, hypertonia

�� Choreiform movements, myoclonic jerks Choreiform movements, myoclonic jerks

�� Posture and gait abnormalitiesPosture and gait abnormalities24

Autism: Neurological Signs

�� Sleep DisturbancesSleep Disturbances

��Prominent insomniaProminent insomnia

��Decreased overall need for sleepDecreased overall need for sleep

��Consistent early morning awakeningConsistent early morning awakening

�� Vestibular DysmodulationVestibular Dysmodulation

��Need to twirl or spinNeed to twirl or spin

��ClumsinessClumsiness




25

Autism: Seizures

�� 25% develop seizures by adolescence25% develop seizures by adolescence

��Complex partial seizures, generalized tonicComplex partial seizures, generalized tonic--

clonic seizures, and combined seizuresclonic seizures, and combined seizures

�� Seizures are more common in those with Seizures are more common in those with

severe mental retardationsevere mental retardation

�� Remember Tuberous Sclerosis Remember Tuberous Sclerosis

26

Autism: Brain Findings

�� Structural MRIStructural MRI

��Increased volumes: Increased volumes: total brain, total brain, caudate, ventriclescaudate, ventricles

��Reduced volumes: cerebellum, brain stem, Reduced volumes: cerebellum, brain stem, amygdalae, corpus callosum, cingulate gyrus, amygdalae, corpus callosum, cingulate gyrus, hippocampushippocampus

�� Head CircumferenceHead Circumference

�� Head circumference is lowHead circumference is low--normal at birth normal at birth accelerated growth in first year leading to large accelerated growth in first year leading to large head circumference head circumference

�� SPECT / PETSPECT / PET

��Bitemporal hypoperfusion Bitemporal hypoperfusion

27

Autism: Immunological Findings

�� Higher levels of certain cytokines in cord Higher levels of certain cytokines in cord

bloodblood

�� Higher family rate of autoimmune disordersHigher family rate of autoimmune disorders

��Rheumatoid arthritis, Thyroiditis, SLERheumatoid arthritis, Thyroiditis, SLE

�� Higher levels of brain autoHigher levels of brain auto--antibodiesantibodies

28

Autism: Differential Diagnosis

�� Asperger’s Syndrome (2 of 3 Autistic syndromes)Asperger’s Syndrome (2 of 3 Autistic syndromes)

��Impaired social interaction and behavior but no Impaired social interaction and behavior but no

general language impairment general language impairment

��May be “High Functioning Autism”May be “High Functioning Autism”

�� Rett’s DisorderRett’s Disorder

��Autistic symptoms seen but course is differentAutistic symptoms seen but course is different

��MethylMethyl--CpGCpG--binding protein 2 mutation presentbinding protein 2 mutation present

�� Childhood Disintegrative DisorderChildhood Disintegrative Disorder

��Symptom pattern, time of onset and course differSymptom pattern, time of onset and course differ




29

Autism Differential Diagnosis

�� Profound hearing lossProfound hearing loss

�� Fragile X SyndromeFragile X Syndrome

�� Tuberous Sclerosis ComplexTuberous Sclerosis Complex

Explanation: Autism is a clinical syndrome. Most cases

are idiopathic while some have identifiable etiologies. The

above conditions may lead to development of the clinical

syndrome of autism, in whole or in part.

30

Autism: Diagnostic Assessment

�� History and Physical ExaminationHistory and Physical Examination

�� Audiology assessment Audiology assessment

�� Vision screening Vision screening

�� EEGEEG

�� LabsLabs

��DNA test for Fragile X Syndrome (FXS): FMRDNA test for Fragile X Syndrome (FXS): FMR--1 gene test (recommended for all kids with 1 gene test (recommended for all kids with autism) autism)

��Other genetic tests based on DysmorphismOther genetic tests based on Dysmorphism

��Lead level: high incidence of pica in this Lead level: high incidence of pica in this populationpopulation

Adapted from AACAP Parameters

31

Autism: Diagnostic Instruments

�� ADIADI--R (Autism Diagnostic InterviewR (Autism Diagnostic Interview--Revised)Revised)��SemiSemi--structured interview of caregiver(s)structured interview of caregiver(s)

��Focus on child’s development between ages 3Focus on child’s development between ages 3--44

��Covers all relevant areas for diagnosisCovers all relevant areas for diagnosis

�� ADOS (Autism Diagnostic Observation ADOS (Autism Diagnostic Observation Schedule)Schedule)�� Interview of childInterview of child

��Four modules to choose from, based on child’s level of Four modules to choose from, based on child’s level of languagelanguage

�� Other Less Extensive InstrumentsOther Less Extensive Instruments��Checklist for Autism in Toddlers (CHAT)Checklist for Autism in Toddlers (CHAT)

��Childhood Autism Rating Scale (CARS)Childhood Autism Rating Scale (CARS)

��PDD Screening Test (PDDSTPDD Screening Test (PDDST))32

Autism: Assessment Of Intelligence

& Adaptive Functioning

�� LeiterLeiter--R International Performance ScaleR International Performance Scale

��NonNon--verbal measure of intelligenceverbal measure of intelligence

��Uninfluenced by educational, social, or familyUninfluenced by educational, social, or family

��Used: Autism, cognitive delay, hearing / speech Used: Autism, cognitive delay, hearing / speech impaired, or nonimpaired, or non--English speakingEnglish speaking

�� Vineland Adaptive Behaviors ScaleVineland Adaptive Behaviors Scale

��4 Behavior Domains: Communication, Daily 4 Behavior Domains: Communication, Daily living Skills, Socialization, Motor Skillsliving Skills, Socialization, Motor Skills

��Interview (577 items) or survey (297 items) Interview (577 items) or survey (297 items) formatsformats




33

Autism: Early Diagnosis

�� Areas of Early Impairment: 12 monthsAreas of Early Impairment: 12 months

��Lack of joint attentionLack of joint attention

��Decreased eye contact & interest in other childrenDecreased eye contact & interest in other children

��Not responding to nameNot responding to name

��Decreased warm, joyful affectDecreased warm, joyful affect

��Presence of stereotypiesPresence of stereotypies

��Delayed speech developmentDelayed speech development

�� Language Signs of ConcernLanguage Signs of Concern

��No babbling by 12 monthsNo babbling by 12 months

��No first word by 16 monthsNo first word by 16 months

��No two word phrase by 24 monthsNo two word phrase by 24 months

Average age of

“First Concern”

– 17 mo

34

Autism Differential: Fragile X

Syndrome

�� ~ 30% of persons with FXS have autism~ 30% of persons with FXS have autism

�� More have subsyndromal autism More have subsyndromal autism

�� FXS pts account for 2FXS pts account for 2--6% of autism cases 6% of autism cases

(m(most common known etiology of Autism)ost common known etiology of Autism)

�� Clinical: hand biting, hand flapping, poor eye Clinical: hand biting, hand flapping, poor eye

contact, shyness, and social anxiety contact, shyness, and social anxiety

�� Most FXS persons Most FXS persons do wantdo want social interactionsocial interaction

Brown et al, 1981

35

Autism Differential: Tuberous

Sclerosis Complex (TSC)

�� ~ 25% of persons with TSC have autism~ 25% of persons with TSC have autism

�� Additional 15Additional 15--25% have autistic symptoms25% have autistic symptoms

�� TSC pts account for 1TSC pts account for 1--4% of autism cases 4% of autism cases

�� TSC pts account for 8TSC pts account for 8--14% of autism cases 14% of autism cases

with seizureswith seizures

�� TSC interferes with brain development TSC interferes with brain development

involved with social interaction and involved with social interaction and

communicationcommunication36

Tuberous Sclerosis Complex

�� TSC Clinical TriadTSC Clinical Triad

1.1. Mental retardationMental retardation

2.2. SeizuresSeizures

3.3. Hemartomas Hemartomas

��Hypomelanotic macules (ash leaf spots)Hypomelanotic macules (ash leaf spots)

��AngiofibromasAngiofibromas

�� Autosomal dominant transmissionAutosomal dominant transmission

��Mutations at Mutations at TSC1 TSC1 on 9q34 or at on 9q34 or at TSC2TSC2 on on

16p13.316p13.3




Landau-Kleffner Syndrome

(Acquired Epileptic Aphasia)

�� FeaturesFeatures

��Acquired: 3Acquired: 3--7 years of normal development7 years of normal development

��Epileptic: Seizures develop (EEG: severe Epileptic: Seizures develop (EEG: severe

paroxysmal discharges bilat, worse during nonparoxysmal discharges bilat, worse during non--

REM sleep even before seizures develop)REM sleep even before seizures develop)

��Aphasia: usually partialAphasia: usually partial

�� Treatment: Anticonvulsant Treatment: Anticonvulsant

37 38

Autism: Introduction To Treatment

�� Type I: Treatment of Type I: Treatment of Core Core Symptoms Symptoms

��Treatment aimed at social and language problems Treatment aimed at social and language problems

��No med shown useful in controlled trials No med shown useful in controlled trials

��Psychosocial Treatments onlyPsychosocial Treatments only

�� Type II: Treatment of Problem SymptomType II: Treatment of Problem Symptom

��Self injurious behaviorsSelf injurious behaviors

��Aggression / Irritability /AnxietyAggression / Irritability /Anxiety

��Hyperactivity / DistractibilityHyperactivity / Distractibility

��Obsessions / CompulsionsObsessions / Compulsions

��Sleep disturbancesSleep disturbances

39

Autism: SSRI Targets

�� DepressionDepression

�� Anxiety/IrritabilityAnxiety/Irritability

�� Obsessions/CompulsionsObsessions/Compulsions

�� PreoccupationsPreoccupations

�� Rigid Insistence on SamenessRigid Insistence on Sameness

�� Aggression / SIBAggression / SIB

40

Autism: SSRI Side Effects

�� Well tolerated when dosed correctlyWell tolerated when dosed correctly

�� If the dose is too highIf the dose is too high

��Irritability returnsIrritability returns

��DisinhibitionDisinhibition

��Sleep problems Sleep problems

��Excessive sillinessExcessive silliness

��Mixed stateMixed state

�� Start low and go slowStart low and go slow




41

Autism: Antipsychotic Targets

�� Risperidone: FDA “Irritability in Associated with Risperidone: FDA “Irritability in Associated with

Autistic Disorder” in pts ages 5Autistic Disorder” in pts ages 5--1616

��Aggression towards othersAggression towards others

��Deliberate selfDeliberate self--injuriousness injuriousness

��Temper tantrumsTemper tantrums

��Quickly changing moods Quickly changing moods

�� Risperdal DosingRisperdal Dosing

��Pts Pts ≤ 20 kg: start ≤ 20 kg: start 0.25mg qd and increase to 0.5mg qd; 0.25mg qd and increase to 0.5mg qd;

then increase by 0.25 mg qd at intervals of then increase by 0.25 mg qd at intervals of ≥ 2 wks UR≥ 2 wks UR

��Pts Pts > 20 kg: start 0.5mg qd and increase to 1mg qd; > 20 kg: start 0.5mg qd and increase to 1mg qd;

then increase by 0.5 mg qd at intervals of then increase by 0.5 mg qd at intervals of ≥ 2 wks UR≥ 2 wks UR

UR= until response42

Autism: ADHD Symptoms

�� Target symptomsTarget symptoms

��Attention deficitsAttention deficits

��Hyperactivity Hyperactivity

�� MedicationsMedications

��StimulantsStimulants

��ClonidineClonidine

�� Adverse EffectsAdverse Effects

��StereotypiesStereotypies

��Increased irritabilityIncreased irritability

��Increased aggressionIncreased aggression

��InsomniaInsomnia

43

Medication Use Patterns In Autism

�� Antidepressants: Antidepressants: 22%22%

�� Antipsychotics: Antipsychotics: 17%17%

�� Stimulants: Stimulants: 14%14%

�� Antiepileptic Drugs: 13%Antiepileptic Drugs: 13%

�� Supplements: Supplements: 6%6%

�� Any med: Any med: 54%54%

Survey of Families in Autism Society of North Carolina

1538 respondents. Langworthy-Lam et al, 2002 44

Psychosocial Treatments�� Augmented communicationAugmented communication

�� Letter board, picture board, computer touchLetter board, picture board, computer touch--screensscreens

�� Speech and language therapySpeech and language therapy

�� Sensory Motor TherapiesSensory Motor Therapies

�� Auditory Integration TrainingAuditory Integration Training

�� Sensory Integration Training Sensory Integration Training

�� Behavioral ModificationBehavioral Modification

�� Lovaas Program Lovaas Program

�� Applied Behavior AnalysisApplied Behavior Analysis

�� Cognitive TherapyCognitive Therapy

�� Higher functioning: understand “other minds”Higher functioning: understand “other minds”




45

Auditory Integration Training

�� Listen to computerListen to computer--modified musicmodified music

��Computer removes sensitive frequencies and Computer removes sensitive frequencies and

reduces predictable patterns reduces predictable patterns

��Patients spend 10 hours over twoPatients spend 10 hours over two--weeksweeks

�� AIT may improve auditory processing AIT may improve auditory processing

capabilities capabilities

��Corrects distortions in hearing Corrects distortions in hearing

��Trains patients to focus their attentionTrains patients to focus their attention

46

Sensory Integration Therapy�� Stimulate pt’s touch and vestibular systemsStimulate pt’s touch and vestibular systems

�� May help patients integrate and modulate May help patients integrate and modulate

sensation (hypersensation (hyper-- or hypoor hypo--stimulation)stimulation)

�� May help decrease selfMay help decrease self--stimulationstimulation

47

Applied Behavior Analysis

�� Behavior Modification: Operant Conditioning Behavior Modification: Operant Conditioning

��Reduce unwanted symptoms (selfReduce unwanted symptoms (self--stimulatory play)stimulatory play)

��Promote social interaction and selfPromote social interaction and self--care care

�� Specific Goals of ABASpecific Goals of ABA

��Improve Function: Communication, Academic, SelfImprove Function: Communication, Academic, Self--

care, Social, Play, & Motor Skills (CASScare, Social, Play, & Motor Skills (CASS--PM)PM)

�� Behavioral AnalysisBehavioral Analysis

��AntecedentsAntecedents

��BehaviorsBehaviors

��ConsequencesConsequences 48

Behavioral Analysis Fundamentals

�� AntecedentsAntecedents

��What triggers unwanted behaviors?What triggers unwanted behaviors?

��How do I trigger wanted behaviors?How do I trigger wanted behaviors?

�� BehaviorsBehaviors

��Which exact unwanted behaviors occur? Which exact unwanted behaviors occur?

��Which behaviors do I want to promote and how Which behaviors do I want to promote and how do I help pt develop them? do I help pt develop them?

��Discrete Training Trials Discrete Training Trials

�� ConsequencesConsequences

��Positive & negative reinforcersPositive & negative reinforcers

��Sometimes: Positive & negative punishmentSometimes: Positive & negative punishment




49

Asperger’s Disorder: Diagnosis IA.A. Impairment in social interaction (2)Impairment in social interaction (2)

1.1. Peer relationshipsPeer relationships

2.2. Reciprocity: social / emotionalReciprocity: social / emotional

3.3. NonNon--verbal behaviors: eye contact, facial expression, verbal behaviors: eye contact, facial expression, gesturesgestures

4.4. Sharing of enjoyment, interests, achievements with Sharing of enjoyment, interests, achievements with othersothers

B.B. Restricted, repetitive, stereotyped behaviors (1)Restricted, repetitive, stereotyped behaviors (1)1.1. Preoccupation with stereotyped / restricted interestsPreoccupation with stereotyped / restricted interests

2.2. Inflexible adherence to routines or ritualsInflexible adherence to routines or rituals

3.3. Mannerisms: stereotyped or repetitive Mannerisms: stereotyped or repetitive

4.4. Preoccupation with parts of objectsPreoccupation with parts of objects

Asperger’s Disorder: Diagnosis II

C.C. Causes impairmentCauses impairment

D.D. No language delayNo language delay: single words by age : single words by age 2, phrases by age 32, phrases by age 3

E.E. No cognitive delay: usually interpreted No cognitive delay: usually interpreted as IQ > 70as IQ > 70

50

51

Asperger’s Disorder: Target Symptoms

For Psychosocial Treatments�� Social AbnormalitiesSocial Abnormalities

��Poor insight into one’s own and other’s Poor insight into one’s own and other’s emotions and behaviorsemotions and behaviors

��Lack of social competenceLack of social competence

��Communicative oneCommunicative one--sidednesssidedness

�� Behavioral AbnormalitiesBehavioral Abnormalities

��Concreteness and rigidity of behaviorsConcreteness and rigidity of behaviors

��Odd ritualsOdd rituals

��Violence is not uncommonViolence is not uncommon

��ClumsinessClumsiness 52

Asperger’s: General Guidelines For

Psychosocial Interventions

�� StepStep--ByBy--Step and Rote Learning: Teach skills Step and Rote Learning: Teach skills

repetitively using a steprepetitively using a step--byby--step approach. step approach.

�� Specific ProblemSpecific Problem--Solving: Teach strategies for Solving: Teach strategies for

handling common troublesome situations. handling common troublesome situations.

�� Verbal Learning: Gear learning to use verbal skills Verbal Learning: Gear learning to use verbal skills

which are stronger than visual ones. which are stronger than visual ones.

�� Generalize Learning: Do training in patient’s Generalize Learning: Do training in patient’s

everyday environment to help patient incorporate it.everyday environment to help patient incorporate it.




53

Asperger’s: Social Skills Training

�� Social Awareness SkillsSocial Awareness Skills

�� Social Receptive SkillsSocial Receptive Skills

�� Social Expressive SkillsSocial Expressive Skills

�� Processing Combined Visual and Auditory Processing Combined Visual and Auditory

InformationInformation

54

Asperger’s: Adaptive Skills Training

�� Social “Template” TrainingSocial “Template” Training

��“Introduce Myself” Template“Introduce Myself” Template

��“Say Thank You” Template. “Say Thank You” Template.

�� Common Problem Training Common Problem Training

��Verbal stepVerbal step--byby--step sequence of appropriate step sequence of appropriate actions that will result in effective behavioractions that will result in effective behavior

�� Novel Situation Training Novel Situation Training

��Identify novel situations, retrieve pertinent Identify novel situations, retrieve pertinent knowledge, engage in stepknowledge, engage in step--byby--step decision step decision making. making.

55

Asperger’s: Behavior Training

�� List problematic behaviors List problematic behaviors

��Perseverations, obsessions, interrupting, etcPerseverations, obsessions, interrupting, etc

�� Develop specific behavioral guidelines Develop specific behavioral guidelines

��Acceptable behavioral responsesAcceptable behavioral responses

�� Skill trainingSkill training

��ProblemProblem--solving skills taught with rote practice solving skills taught with rote practice

�� Implement contingency management Implement contingency management

��Behavior modification with positive and Behavior modification with positive and negative reinforcementnegative reinforcement

56

Asperger’s: Emotional Training

�� Emotional Recognition Training Emotional Recognition Training

��Patient trains in understanding the link between Patient trains in understanding the link between

events and their emotional responseevents and their emotional response

��Patient trains in understanding the link between Patient trains in understanding the link between

events and other people’s emotional responsesevents and other people’s emotional responses

�� Asperger’s Teens use online communitiesAsperger’s Teens use online communities




57

Asperger’s: Academic Training

�� “Learning to learn”“Learning to learn”

��Specific learning strategies developed for Specific learning strategies developed for mastering new topics and skills.mastering new topics and skills.

�� Identify most effective learning strategies Identify most effective learning strategies

��Verbal rote learning is a common strengthVerbal rote learning is a common strength

��Outlining, writing, researching online may be Outlining, writing, researching online may be effective effective

�� Academic SelfAcademic Self--EsteemEsteem

��Person with Asperger’s may excelPerson with Asperger’s may excel

��Computer programming: ruleComputer programming: rule--based, rational, based, rational, and socially isolating and socially isolating 58

Rett’s Disorder: Diagnosis

A.A. All of the followingAll of the following

1.1. Normal prenatal / perinatal developmentNormal prenatal / perinatal development

2.2. Normal psychomotor development first 5 monthsNormal psychomotor development first 5 months

3.3. Normal head circumferenceNormal head circumference

B.B. Onset of all after period of normal developmentOnset of all after period of normal development

1.1. Deceleration of head growth between 5Deceleration of head growth between 5--48 months48 months

2.2. Loss of purposeful hand skills & start of stereotyped Loss of purposeful hand skills & start of stereotyped hand movementshand movements

3.3. Loss of social engagement early in courseLoss of social engagement early in course

4.4. Poorly coordinated gait and trunk movementsPoorly coordinated gait and trunk movements

5.5. Severely impaired expressive / receptive language Severely impaired expressive / receptive language with severe psychomotor retardationwith severe psychomotor retardation

59

Rett’s Disorder Vs. Other

PDD’s

�� Only in Females!!!Only in Females!!!

�� Severe language impairment Severe language impairment

��Unlike Asperger’sUnlike Asperger’s

�� Regression may start in 5Regression may start in 5thth monthmonth

��CDD usually normal development until age 2 yrsCDD usually normal development until age 2 yrs

�� Seizures may begin in early childhoodSeizures may begin in early childhood

��Seizures begin in adolescence in other PDD’sSeizures begin in adolescence in other PDD’s

�� Motor behavior abnormalitiesMotor behavior abnormalities

��HandHand--wringing, gait and trunk uncoordinatedwringing, gait and trunk uncoordinated 60

Rett’s Disorder: Etiology

�� Mutation of MECP2 gene on X chromosomeMutation of MECP2 gene on X chromosome

��80% of girls with Rett’s disorder have a MECP2 80% of girls with Rett’s disorder have a MECP2

gene mutation identified by current methodsgene mutation identified by current methods

��Due to sporadic mutation during spermatogenesisDue to sporadic mutation during spermatogenesis

��Only 1% familialOnly 1% familial

�� MECP2 codes for a protein MECP2 codes for a protein -- methyl cytosine methyl cytosine

binding protein 2 (MeCBP2)binding protein 2 (MeCBP2)

��In Rett’s disorder the defective MECP2 gene In Rett’s disorder the defective MECP2 gene

causes too little or defective MeCBP2, which in causes too little or defective MeCBP2, which in

turn disrupts expression of several other genesturn disrupts expression of several other genes




61

Rett’s Disorder: Why Is It Seen Only

In Females?

�� The Rett’s mutation occurs in males too!The Rett’s mutation occurs in males too!

�� Females have 2 X chromosomes Females have 2 X chromosomes –– but only but only 1 is active in each cell 1 is active in each cell –– the second the second chromosome is randomly inactivatedchromosome is randomly inactivated

�� Thus, in females, half the cells have normal Thus, in females, half the cells have normal MECP2 MECP2 –– phenotypic effects are attenuatedphenotypic effects are attenuated

�� Males have only 1 X chromosome. When Males have only 1 X chromosome. When MECP2 is defective, all cells are impairedMECP2 is defective, all cells are impaired

�� Males with Rett’s die shortly after birthMales with Rett’s die shortly after birth62

Rett’s Disorder: Epidemiology

�� 1 in 10,000 to 15,000 females births1 in 10,000 to 15,000 females births

�� Many pts live well into middle ageMany pts live well into middle age

�� Expression of deficits is variableExpression of deficits is variable

��Proportion of cells with the defective X Proportion of cells with the defective X

chromosome activated varies from pt to ptchromosome activated varies from pt to pt

��MR tends to be severe but not alwaysMR tends to be severe but not always

63

Rett’s Management

�� No cureNo cure

�� Supportive treatment onlySupportive treatment only

��Treat seizures Treat seizures

��Maintain safety Maintain safety

��Monitor for scoliosis and respiratory Monitor for scoliosis and respiratory

difficultiesdifficulties

��Physical therapy to improve movementPhysical therapy to improve movement

��Family education and support Family education and support

�� Behavioral / social trainingBehavioral / social training

��Like in AutismLike in Autism 64

Childhood Disintegrative Disorder

A.A. Normal development for 2 years in verbal & nonNormal development for 2 years in verbal & non--verbal communication, social relationships, play, and verbal communication, social relationships, play, and adaptive behavioradaptive behavior

B.B. Loss of Loss of ≥≥ 2 of the following before age 102 of the following before age 101.1. Expressive / receptive languageExpressive / receptive language

2.2. Social skills or adaptive behaviorSocial skills or adaptive behavior

3.3. Bowel or bladder controlBowel or bladder control

4.4. Play Play

5.5. Motor skills Motor skills

C.C. Abnormalities of Abnormalities of ≥≥ 2 of the following2 of the following1.1. Social interactionSocial interaction

2.2. Communication Communication

3.3. Restricted, repetitive, and stereotyped behaviorsRestricted, repetitive, and stereotyped behaviors

D.D. Not better accounted for by another PDD / Schizo.Not better accounted for by another PDD / Schizo.




65

Childhood Disintegrative Disorder

Vs. Other PDDs�� Rett’s Rett’s

��Often begins prior to age 2; girls only Often begins prior to age 2; girls only

��Neuro changes: gait, hand movement disturbanceNeuro changes: gait, hand movement disturbance

�� Physical: decelerating head circumferencePhysical: decelerating head circumference

�� AutismAutism

��Similar disturbed behavior, social interaction, Similar disturbed behavior, social interaction,

communicationcommunication

��Autism features begin Autism features begin ≤≤ 3 age3 age

��CDD features usually begin at age 3CDD features usually begin at age 3--4 4 -- up to age 10up to age 10

��CDD disturbance often progress quickly CDD disturbance often progress quickly -- monthsmonths 66

CDD: Etiology

�� Unknown Unknown

�� GMC presumed but usually not identifiedGMC presumed but usually not identified

�� Identified EtiologiesIdentified Etiologies

��Lipid Storage Diseases: Metachromatic Lipid Storage Diseases: Metachromatic

LeukodystrophyLeukodystrophy

��Tuberous SclerosisTuberous Sclerosis

��Subacute Sclerosing Panencephalitis: due to a Subacute Sclerosing Panencephalitis: due to a

chronic measles infection chronic measles infection

67

CDD: Management

�� No CureNo Cure

�� Symptomatic TreatmentSymptomatic Treatment

��Treat seizuresTreat seizures

��Maintain safetyMaintain safety

��Family education and support Family education and support

�� Behavioral and social trainingBehavioral and social training

��Like for autismLike for autism

68

PDD NOS: Diagnosis

�� Use when severe and pervasive impairment in Use when severe and pervasive impairment in

reciprocal social interaction is associated reciprocal social interaction is associated

either with impairment in verbal or nonverbal either with impairment in verbal or nonverbal

communication skills or with the presence of communication skills or with the presence of

stereotyped behavior, interests, and activities. stereotyped behavior, interests, and activities.

�� ExclusionExclusion

��Doesn’t meet criteria for another PDD Doesn’t meet criteria for another PDD –– late onset late onset

autism, subsyndromal featuresautism, subsyndromal features

��Not Schizophrenia, Schizotypal PD, or Avoidant Not Schizophrenia, Schizotypal PD, or Avoidant

PD. PD.




69

Question: A child’s ability to engage

another's attention to share enjoyment of

objects or events is known by which of the

following terms?

A.A. Parallel playParallel play

B.B. Joint attentionJoint attention

C.C. Sensory integrationSensory integration

D.D. Modal expressionModal expression

E.E. Applied social abilityApplied social ability

70

Question: Which of the following are not

considered “signs of concern” for

developmental delay or PDD in a 12 month

child?

A.A. No babblingNo babbling

B.B. No pointingNo pointing

C.C. No gesturesNo gestures

D.D. No two word phrasesNo two word phrases

E.E. Loss of language skills Loss of language skills

Filipek et al, Neurology, 2000

71

Question: Janet is a 4 ½ year old girl starting

second year of preschool who is referred to

psychiatry because of a change in her behavior

since the end of last preschool year. She now

engages in self-stimulation, appears to be reacting

to hallucinations, points to objects rather than

naming them, and kicks and screams when

frustrated. What is Janet’s most likely diagnosis?


B.B. Autistic Disorder Autistic Disorder


D.D. Oppositional Defiant DisorderOppositional Defiant Disorder


Question: Which is the most appropriate

therapy for a child with Autism?

A.A. Anger Management TherapyAnger Management Therapy

B.B. Applied Behavior AnalysisApplied Behavior Analysis

C.C. Mentalization TherapyMentalization Therapy

D.D. Multisystem TherapyMultisystem Therapy

E.E. Trauma Focused Cognitive Behavioral Trauma Focused Cognitive Behavioral

TherapyTherapy




73

Question: Michelle is a 9 yr old girl who spends hours

lining up her collection of dinosaurs. She attends special

education classes and remains 2 grade levels below in

language and math performance. She did not begin

speaking intelligibly until age 6. She shuns interactive

play with children and prefers the company of adults.

She likes to repeat verbatim sections of her favorite

female newscaster’s presentation from last evening’s

news. What is Michelle’s most likely diagnosis?

A.A. Autistic DisorderAutistic Disorder

B.B. Asperger’s DisorderAsperger’s Disorder


D.D. Reading and Mathematics Disorders Reading and Mathematics Disorders


Question: Michael is a 3 year old boy with no

evident dysmorphisms, who has clinical features

of autism. As part of his work up, a DNA test is

performed. The report states that 250 CGG

repeats are identified on the FMR-1 gene.

Michael’s most likely diagnosis is which of the

following?


B.B. Down’s SyndromeDown’s Syndrome

C.C. Fragile X SyndromeFragile X Syndrome

D.D. Marfan’s SyndromeMarfan’s Syndrome

E.E. Tuberous Sclerosis ComplexTuberous Sclerosis Complex

75

Questions & Answers

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