Early Assessment and Diagnosis of Autism Spectrum Disorders Zachary Warren, PhD Vanderbilt Kennedy...

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Early Assessment Early Assessment and Diagnosis of and Diagnosis of Autism Spectrum Autism Spectrum Disorders Disorders Zachary Warren, PhD Vanderbilt Kennedy Center / TRIAD Department of Psychiatry / VUMC

Transcript of Early Assessment and Diagnosis of Autism Spectrum Disorders Zachary Warren, PhD Vanderbilt Kennedy...

Page 1: Early Assessment and Diagnosis of Autism Spectrum Disorders Zachary Warren, PhD Vanderbilt Kennedy Center / TRIAD Department of Psychiatry / VUMC.

Early Assessment Early Assessment and Diagnosis of and Diagnosis of

Autism Spectrum DisordersAutism Spectrum Disorders

Zachary Warren, PhDVanderbilt Kennedy Center / TRIAD Department of Psychiatry / VUMC

Page 2: Early Assessment and Diagnosis of Autism Spectrum Disorders Zachary Warren, PhD Vanderbilt Kennedy Center / TRIAD Department of Psychiatry / VUMC.

OverviewOverview

The diagnosis of autismThe diagnosis of autism• Behavioral and diagnostic featuresBehavioral and diagnostic features• EtiologyEtiology• Clinical courseClinical course

Reasons for early identification of Reasons for early identification of autismautism

Accuracy of early diagnosisAccuracy of early diagnosis

Earliest behavioral signs of autismEarliest behavioral signs of autism

Clinical applications: Clinical applications: • Early screening and diagnosisEarly screening and diagnosis

Page 3: Early Assessment and Diagnosis of Autism Spectrum Disorders Zachary Warren, PhD Vanderbilt Kennedy Center / TRIAD Department of Psychiatry / VUMC.

AcknowledgementsAcknowledgements

Wendy Stone, Ph.D.Wendy Stone, Ph.D. Jeremy Veenstra-VanderWeele, M.D.Jeremy Veenstra-VanderWeele, M.D. VKC / TRIADVKC / TRIAD

Page 4: Early Assessment and Diagnosis of Autism Spectrum Disorders Zachary Warren, PhD Vanderbilt Kennedy Center / TRIAD Department of Psychiatry / VUMC.

The diagnosis of The diagnosis of ASD is ASD is

behaviorallybehaviorally based basedThere are at There are at

present no specific present no specific medical tests or medical tests or

biological markers biological markers that indicate the that indicate the

presence of autismpresence of autism

Page 5: Early Assessment and Diagnosis of Autism Spectrum Disorders Zachary Warren, PhD Vanderbilt Kennedy Center / TRIAD Department of Psychiatry / VUMC.

Autism Spectrum Disorders (ASDs)Autism Spectrum Disorders (ASDs)

ASD

Interests and Activities

Communication

Social InteractionsSocial Interactions

Page 6: Early Assessment and Diagnosis of Autism Spectrum Disorders Zachary Warren, PhD Vanderbilt Kennedy Center / TRIAD Department of Psychiatry / VUMC.

Major Diagnostic Features for DSM-IV Major Diagnostic Features for DSM-IV Pervasive Developmental DisordersPervasive Developmental Disorders

FeatureFeature Autistic Autistic DisorderDisorder

Asperger’s Asperger’s DisorderDisorder

PDD-NOSPDD-NOS

Social impairmentSocial impairment XX XX XXLang/ Communication Lang/ Communication

disorderdisorder XX XXaa

Repetitive interests & Repetitive interests & activitiesactivities XX XX XXaa

Onset prior to 36 monthsOnset prior to 36 months XXAverage intelligenceAverage intelligence XX

a=At least one of these two features must be present

Page 7: Early Assessment and Diagnosis of Autism Spectrum Disorders Zachary Warren, PhD Vanderbilt Kennedy Center / TRIAD Department of Psychiatry / VUMC.

May also see…May also see… Intellectual disabilityIntellectual disability Sensory sensitivitySensory sensitivity Coordination problemsCoordination problems

• Fine motor and large motor skillsFine motor and large motor skills Savant skillsSavant skills

• Preserved area of functionPreserved area of function Seizure disorderSeizure disorder Gastrointestinal symptomsGastrointestinal symptoms Sleep difficultiesSleep difficulties

Page 8: Early Assessment and Diagnosis of Autism Spectrum Disorders Zachary Warren, PhD Vanderbilt Kennedy Center / TRIAD Department of Psychiatry / VUMC.

PrevalencePrevalence

Old estimate for autism:Old estimate for autism:• ~ 1/2000~ 1/2000

Recent estimates for autism:Recent estimates for autism:• ~ 1/500~ 1/500

Newest estimates for ‘autism Newest estimates for ‘autism spectrum disorders’:spectrum disorders’:• 1/150 (1/94 boys)1/150 (1/94 boys)

CDC, 2006CDC, 2006

Page 9: Early Assessment and Diagnosis of Autism Spectrum Disorders Zachary Warren, PhD Vanderbilt Kennedy Center / TRIAD Department of Psychiatry / VUMC.

Why is diagnosis increasing?Why is diagnosis increasing?

Autism

Asperger’s

PDD

Social Reciprocity

Language/Communication

Atypical Behaviors/Sameness/Rigidity

Page 10: Early Assessment and Diagnosis of Autism Spectrum Disorders Zachary Warren, PhD Vanderbilt Kennedy Center / TRIAD Department of Psychiatry / VUMC.

Why is autism diagnosis Why is autism diagnosis increasing? increasing?

New diagnostic measuresNew diagnostic measures• Autism Diagnostic Interview (1989, revised Autism Diagnostic Interview (1989, revised

1994)1994)• Autism Diagnostic Observation Schedule Autism Diagnostic Observation Schedule

(1989, generic 2000)(1989, generic 2000) AwarenessAwareness

• Mental health providers, Mental health providers, pediatricianspediatricians, , schoolsschools

• Media, Media, parentsparents PreviousPrevious underestimatesunderestimates Other factors???Other factors???

Page 11: Early Assessment and Diagnosis of Autism Spectrum Disorders Zachary Warren, PhD Vanderbilt Kennedy Center / TRIAD Department of Psychiatry / VUMC.

A broad spectrum?A broad spectrum?

Constantino, JAACAP, 2003

Page 12: Early Assessment and Diagnosis of Autism Spectrum Disorders Zachary Warren, PhD Vanderbilt Kennedy Center / TRIAD Department of Psychiatry / VUMC.

Clues to autism causesClues to autism causes Maleness (3:1)Maleness (3:1) HeritabilityHeritability

• Twin studies of shared diagnosis:Twin studies of shared diagnosis: Identical Identical 60-90% 60-90% Fraternal Fraternal 0-50% 0-50%

• Family studies:Family studies: Siblings Siblings 3-20% 3-20% General population risk General population risk 0.2-0.7% 0.2-0.7%

Page 13: Early Assessment and Diagnosis of Autism Spectrum Disorders Zachary Warren, PhD Vanderbilt Kennedy Center / TRIAD Department of Psychiatry / VUMC.

Clues to autism causesClues to autism causes

Lack of specific environmental causesLack of specific environmental causes

• No single pathologic event has been uniquely No single pathologic event has been uniquely or universally associated with autismor universally associated with autism

• Controversies do exist: vaccines, metals, Controversies do exist: vaccines, metals, toxins, dietstoxins, diets

• Pseudoscience also prevalent: television, Pseudoscience also prevalent: television, historical family factors (i.e., refrigerator historical family factors (i.e., refrigerator mothers)mothers)

Page 14: Early Assessment and Diagnosis of Autism Spectrum Disorders Zachary Warren, PhD Vanderbilt Kennedy Center / TRIAD Department of Psychiatry / VUMC.

Genes in autismGenes in autism

Common theme: Common theme: synapse synapse developmentdevelopment• Common variants: Common variants:

METMET• Uncommon Uncommon

variants: variants: SERTSERT• Mutations: Mutations: NLGN4NLGN4, ,

NRXN1NRXN1• Association: Association:

GABRB3GABRB3, , EN2EN2, , SLC25A12SLC25A12……

Page 15: Early Assessment and Diagnosis of Autism Spectrum Disorders Zachary Warren, PhD Vanderbilt Kennedy Center / TRIAD Department of Psychiatry / VUMC.

Autism

AtypicalAutism

Anxiety RiskIntense Focus

Language Impairment

Relatively simple genetic examplesMaternal chromosome 15q11-13

duplication or triplicationFragile X (0.5-3%)Rett, Tuberous sclerosisdistal 2q deletionsNLGN4 mutations

Note: Circles represent gene effects Cook, 2000

Polygenic inheritance?

Page 16: Early Assessment and Diagnosis of Autism Spectrum Disorders Zachary Warren, PhD Vanderbilt Kennedy Center / TRIAD Department of Psychiatry / VUMC.

Risk and Susceptibility GenesRisk and Susceptibility Genes

Dad Mom

DaughterSon with ASD

Autism

Risk

Genes

Aa

Bb

cc

aa

bb

cC

Aa

Bb

cC

aa

Bb

cc

Page 17: Early Assessment and Diagnosis of Autism Spectrum Disorders Zachary Warren, PhD Vanderbilt Kennedy Center / TRIAD Department of Psychiatry / VUMC.

Course/OutcomeCourse/Outcome

Complex neurodevelopmental disorderComplex neurodevelopmental disorder

Social and communication deficits in first years Social and communication deficits in first years of lifeof life

Outcome is highly variable Outcome is highly variable

Best predictors of outcome are cognitive and Best predictors of outcome are cognitive and language skillslanguage skills

Prognosis is much more positive than earlier Prognosis is much more positive than earlier research indicatedresearch indicated

Page 18: Early Assessment and Diagnosis of Autism Spectrum Disorders Zachary Warren, PhD Vanderbilt Kennedy Center / TRIAD Department of Psychiatry / VUMC.

Course/OutcomeCourse/Outcome

Average Average IntelligenceIntelligence

Functional Functional LanguageLanguage

AdultAdultIndependenceIndependence

PreviousSamples

More Recent Samples

25% 50%

50% 75%

15-20% ?

Page 19: Early Assessment and Diagnosis of Autism Spectrum Disorders Zachary Warren, PhD Vanderbilt Kennedy Center / TRIAD Department of Psychiatry / VUMC.

Why is it important to identify autism at young ages?

• for the child• for the family• for science • for society

Page 20: Early Assessment and Diagnosis of Autism Spectrum Disorders Zachary Warren, PhD Vanderbilt Kennedy Center / TRIAD Department of Psychiatry / VUMC.

Reasons for Early IDReasons for Early ID

Early diagnosis Early diagnosis specialized early interventionspecialized early intervention

Specialized intervention Specialized intervention improved social, behavioral, improved social, behavioral, cognitive, & language cognitive, & language functioningfunctioning

Capitalize on increased brainCapitalize on increased brainplasticityplasticity

1. To optimize child outcomes

Page 21: Early Assessment and Diagnosis of Autism Spectrum Disorders Zachary Warren, PhD Vanderbilt Kennedy Center / TRIAD Department of Psychiatry / VUMC.

Models of Developmental OutcomesModels of Developmental Outcomes

Page 22: Early Assessment and Diagnosis of Autism Spectrum Disorders Zachary Warren, PhD Vanderbilt Kennedy Center / TRIAD Department of Psychiatry / VUMC.

Reasons for Early IDReasons for Early ID

Alleviate parental Alleviate parental uncertaintyuncertainty

Provide access to Provide access to resources & supportresources & support

Foster networking & Foster networking & advocacy advocacy

Clarify genetic implicationsClarify genetic implications

2. To educate & empower families

Page 23: Early Assessment and Diagnosis of Autism Spectrum Disorders Zachary Warren, PhD Vanderbilt Kennedy Center / TRIAD Department of Psychiatry / VUMC.

Reasons for Early IDReasons for Early ID

Identify core featuresIdentify core features

Define etiological Define etiological subtypes subtypes

Delineate Delineate

developmental developmental pathways & sequencespathways & sequences

Develop tailored Develop tailored treatmentstreatments

3. To understand causes and improve treatments

Page 24: Early Assessment and Diagnosis of Autism Spectrum Disorders Zachary Warren, PhD Vanderbilt Kennedy Center / TRIAD Department of Psychiatry / VUMC.

Reasons for Early IDReasons for Early ID

Not a rare disorderNot a rare disorder

System demands and System demands and problems can be problems can be extensive extensive

Effective early Effective early

intervention can reduce intervention can reduce individual, family, individual, family, system, and societal system, and societal costscosts

4. To increase societal engagement decrease system demands

Page 25: Early Assessment and Diagnosis of Autism Spectrum Disorders Zachary Warren, PhD Vanderbilt Kennedy Center / TRIAD Department of Psychiatry / VUMC.

Current Practice Current Practice

GuidelinesGuidelinesrecommending early identification recommending early identification

and interventionand intervention American Academy of Neurology American Academy of Neurology (2000)(2000)

National Academy of Sciences National Academy of Sciences (2001)(2001) American Academy of Pediatrics American Academy of Pediatrics (2001)(2001)

• Autism A.L.A.R.M. Autism A.L.A.R.M. (2004)(2004)

American Academy of PediatricsAmerican Academy of Pediatrics (2006)(2006)• Developmental Surveillance and ScreeningDevelopmental Surveillance and Screening

American Academy of PediatricsAmerican Academy of Pediatrics (2007) (2007)• 18 and 24 months18 and 24 months

Page 26: Early Assessment and Diagnosis of Autism Spectrum Disorders Zachary Warren, PhD Vanderbilt Kennedy Center / TRIAD Department of Psychiatry / VUMC.

Challenges of Early Challenges of Early

DiagnosisDiagnosis Increased behavioral variability at Increased behavioral variability at

young agesyoung ages• Behavioral variability across childrenBehavioral variability across children• Behavioral variability across timeBehavioral variability across time• Behavioral variabilitiy across settings Behavioral variabilitiy across settings

Overlapping symptoms with other Overlapping symptoms with other developmental disordersdevelopmental disorders (e.g., (e.g., developmental delay, language developmental delay, language delay/disorder)delay/disorder)

Decreased applicability of current Decreased applicability of current diagnostic systemsdiagnostic systems

Page 27: Early Assessment and Diagnosis of Autism Spectrum Disorders Zachary Warren, PhD Vanderbilt Kennedy Center / TRIAD Department of Psychiatry / VUMC.

How accurate is the early diagnosis of autism?

• Reliability across clinicians

•Stability over time

Page 28: Early Assessment and Diagnosis of Autism Spectrum Disorders Zachary Warren, PhD Vanderbilt Kennedy Center / TRIAD Department of Psychiatry / VUMC.

Reliability Across Reliability Across

CliniciansClinicians Good agreement between Good agreement between

experienced clinicians experienced clinicians at age 2at age 2 - ASD vs. Nonspectrum = 89% (- ASD vs. Nonspectrum = 89% (KK = .69) = .69)

- Autism vs. PDD-NOS = 81% (- Autism vs. PDD-NOS = 81% (KK = .63) = .63)

Lower agreement for inexperiencedLower agreement for inexperienced

- especially for Autism vs. PDD-NOS- especially for Autism vs. PDD-NOS

Page 29: Early Assessment and Diagnosis of Autism Spectrum Disorders Zachary Warren, PhD Vanderbilt Kennedy Center / TRIAD Department of Psychiatry / VUMC.

Dx Stability Over Time Dx Stability Over Time Age 2Age 2 diagnosis is stable over time diagnosis is stable over time

• Greatest stability from 30 months onGreatest stability from 30 months on Higher stability:Higher stability:

• Autism Autism Autism Autism

Lower stability:Lower stability:• PDD-NOS PDD-NOS PDD-NOS PDD-NOS

““Leaving the spectrum”Leaving the spectrum”• 15% “leave” the autism spectrum15% “leave” the autism spectrum

Retain a developmental difficulties?Retain a developmental difficulties?

Page 30: Early Assessment and Diagnosis of Autism Spectrum Disorders Zachary Warren, PhD Vanderbilt Kennedy Center / TRIAD Department of Psychiatry / VUMC.

Accuracy of Early Accuracy of Early

DiagnosisDiagnosisWHAT WE KNOW

• Reliable across clinicians

• Stable over time…

…as young as 24 months

WHAT WE DON’T KNOW

• Accuracy of diagnosis under 24 months

Page 31: Early Assessment and Diagnosis of Autism Spectrum Disorders Zachary Warren, PhD Vanderbilt Kennedy Center / TRIAD Department of Psychiatry / VUMC.

What are the earliest behavioral features of autism?

Page 32: Early Assessment and Diagnosis of Autism Spectrum Disorders Zachary Warren, PhD Vanderbilt Kennedy Center / TRIAD Department of Psychiatry / VUMC.

Autism Spectrum Disorders (ASDs)Autism Spectrum Disorders (ASDs)

ASD

Interests and Activities

Communication

Social InteractionsSocial Interactions

Page 33: Early Assessment and Diagnosis of Autism Spectrum Disorders Zachary Warren, PhD Vanderbilt Kennedy Center / TRIAD Department of Psychiatry / VUMC.

Autism Spectrum Disorders (ASDs)Autism Spectrum Disorders (ASDs)

ASD

Interests and Activities

Communication

Social InteractionsSocial Interactions

Page 34: Early Assessment and Diagnosis of Autism Spectrum Disorders Zachary Warren, PhD Vanderbilt Kennedy Center / TRIAD Department of Psychiatry / VUMC.

Typical Social DevelopmentTypical Social Development•Show enjoyment in social give-and-take

•Direct affective expressions to others

•Like to please adults

• Initiate teasing games • Show interest in peers

• Imitate actions of peers

Page 35: Early Assessment and Diagnosis of Autism Spectrum Disorders Zachary Warren, PhD Vanderbilt Kennedy Center / TRIAD Department of Psychiatry / VUMC.

Qualitative Impairment in Social FunctioningQualitative Impairment in Social Functioning Atypical nonverbal social behaviorAtypical nonverbal social behavior

• Gaze, range of facial expressions, social smiling, Gaze, range of facial expressions, social smiling, pointingpointing

Failure to develop peer relationshipsFailure to develop peer relationships• Interest in peers, response to peersInterest in peers, response to peers

Shared enjoymentShared enjoyment• Joint/directing attention, bringing, showing, sharingJoint/directing attention, bringing, showing, sharing

Lack of social emotional reciprocityLack of social emotional reciprocity• Hand as tool, lack of response to distress, Hand as tool, lack of response to distress,

inappropriate facial expressions, limited back and inappropriate facial expressions, limited back and forth play, poor response to name, limited response forth play, poor response to name, limited response to social approach of others, limited insight and to social approach of others, limited insight and understanding of emotions/experiences of others.understanding of emotions/experiences of others.

Hallmark feature!!!Hallmark feature!!!

Page 36: Early Assessment and Diagnosis of Autism Spectrum Disorders Zachary Warren, PhD Vanderbilt Kennedy Center / TRIAD Department of Psychiatry / VUMC.

Social Red FlagsSocial Red Flags

Less responsive to social Less responsive to social overturesovertures

Less participation in back-and-Less participation in back-and-forth playforth play

Less “showing off” for attentionLess “showing off” for attention

Less imitation of the actions of Less imitation of the actions of othersothers

Less interested in other childrenLess interested in other children

Page 37: Early Assessment and Diagnosis of Autism Spectrum Disorders Zachary Warren, PhD Vanderbilt Kennedy Center / TRIAD Department of Psychiatry / VUMC.

Parental Descriptions of Parental Descriptions of Social BehaviorsSocial Behaviors

““It’s hard to get his attention”It’s hard to get his attention”

““He seems to be in his own world”He seems to be in his own world”

““Everything he does is on his own terms”Everything he does is on his own terms”

““He completely ignores his baby sister”He completely ignores his baby sister”

But also….

“ He’s very affectionate”

“He loves to wrestle with his dad”

Page 38: Early Assessment and Diagnosis of Autism Spectrum Disorders Zachary Warren, PhD Vanderbilt Kennedy Center / TRIAD Department of Psychiatry / VUMC.

Social behavior is notSocial behavior is notall-or-nothingall-or-nothing

• Social behaviors are not completely absent (despite DSM wording)

• Children with autism do show social behaviors (e.g., eye contact, imitation, attachment)

• Social behaviors occur less consistently across people and settings (e.g., at different times, requiring greater effort)

Page 39: Early Assessment and Diagnosis of Autism Spectrum Disorders Zachary Warren, PhD Vanderbilt Kennedy Center / TRIAD Department of Psychiatry / VUMC.

Autism Spectrum Disorders (ASDs)Autism Spectrum Disorders (ASDs)

ASD

Interests and Activities

Communication

Social InteractionsSocial Interactions

Page 40: Early Assessment and Diagnosis of Autism Spectrum Disorders Zachary Warren, PhD Vanderbilt Kennedy Center / TRIAD Department of Psychiatry / VUMC.

Typical Communication Typical Communication Development Development (1)(1)

Young children communicate for many reasons:Young children communicate for many reasons:

To request things they wantTo request things they want To protest about events that displease themTo protest about events that displease them To share their enjoyment with adultsTo share their enjoyment with adults To direct adult’s To direct adult’s attentionattention to objects or events of to objects or events of

interestinterest

Page 41: Early Assessment and Diagnosis of Autism Spectrum Disorders Zachary Warren, PhD Vanderbilt Kennedy Center / TRIAD Department of Psychiatry / VUMC.

Typical Communication Typical Communication DevelopmentDevelopment (2) (2)

Young children use verbal & nonverbal Young children use verbal & nonverbal behaviors to communicatebehaviors to communicate

GesturesGestures

Eye contactEye contact

Facial expressionsFacial expressions

VocalizationsVocalizations

Page 42: Early Assessment and Diagnosis of Autism Spectrum Disorders Zachary Warren, PhD Vanderbilt Kennedy Center / TRIAD Department of Psychiatry / VUMC.

Qualitative Impairments in Qualitative Impairments in CommunicationCommunication

Absence of language / Language delay without Absence of language / Language delay without nonverbal compensationnonverbal compensation• Milestones atypical, little gestural communication, little Milestones atypical, little gestural communication, little

spontaneous communication, regressionspontaneous communication, regression Stereotyped, repetitive, or idiosyncratic speechStereotyped, repetitive, or idiosyncratic speech

• Echolalia, pronominal reversal, pop-up phrases, odd jargoning, Echolalia, pronominal reversal, pop-up phrases, odd jargoning, neologismsneologisms

Lack of spontaneous make-believe or social Lack of spontaneous make-believe or social imitative playimitative play• Limited imitations, limited fucntional play, limited doll playLimited imitations, limited fucntional play, limited doll play

For verbal subjects:For verbal subjects: Failure to sustain conversational interchangeFailure to sustain conversational interchange

• Limited social chat/comments, limited back and forth interchangesLimited social chat/comments, limited back and forth interchanges

Most commonly recognized early impairment:Most commonly recognized early impairment:Delayed / disordered language developmentDelayed / disordered language development

Page 43: Early Assessment and Diagnosis of Autism Spectrum Disorders Zachary Warren, PhD Vanderbilt Kennedy Center / TRIAD Department of Psychiatry / VUMC.

CommunicationCommunication

Communication Process itself Communication Process itself seems to be impaired/atypical*seems to be impaired/atypical*• Communication is the conveyanceCommunication is the conveyance• Language is the toolLanguage is the tool

Page 44: Early Assessment and Diagnosis of Autism Spectrum Disorders Zachary Warren, PhD Vanderbilt Kennedy Center / TRIAD Department of Psychiatry / VUMC.

Different ways to get what you want

Eye contact

& Gesture

Page 45: Early Assessment and Diagnosis of Autism Spectrum Disorders Zachary Warren, PhD Vanderbilt Kennedy Center / TRIAD Department of Psychiatry / VUMC.

Language Red FlagsLanguage Red Flags

No babbling, pointing, or other No babbling, pointing, or other gestures by 12 monthsgestures by 12 months

No single words by 16 monthsNo single words by 16 months

No spontaneous two-word phrases by No spontaneous two-word phrases by 24 months24 months

Loss of language skills at any ageLoss of language skills at any age

Source: AAN Practice Parameters

Page 46: Early Assessment and Diagnosis of Autism Spectrum Disorders Zachary Warren, PhD Vanderbilt Kennedy Center / TRIAD Department of Psychiatry / VUMC.

Communication Communication

Red Flags Red Flags Less communication to direct Less communication to direct

another person’s attention another person’s attention

Less use of gestures to communicateLess use of gestures to communicate

Less use of eye contact to Less use of eye contact to communicatecommunicate

Inconsistent response to Inconsistent response to sounds/namesounds/name

Page 47: Early Assessment and Diagnosis of Autism Spectrum Disorders Zachary Warren, PhD Vanderbilt Kennedy Center / TRIAD Department of Psychiatry / VUMC.

Parental Descriptions of Parental Descriptions of Communication BehaviorsCommunication Behaviors

““He gets things by himself”He gets things by himself”

““He can’t tell me what he wants”He can’t tell me what he wants”

““He takes my hand and pulls me toHe takes my hand and pulls me to whatever it is he wants”whatever it is he wants”

““He repeats lines and songs from videosHe repeats lines and songs from videos but doesn’t use words to ask for things”but doesn’t use words to ask for things”

““We thought he couldn’t hear” We thought he couldn’t hear”

Page 48: Early Assessment and Diagnosis of Autism Spectrum Disorders Zachary Warren, PhD Vanderbilt Kennedy Center / TRIAD Department of Psychiatry / VUMC.

Autism Spectrum Disorders (ASDs)Autism Spectrum Disorders (ASDs)

ASDInterests and Activities

Communication

Social InteractionsSocial Interactions

Page 49: Early Assessment and Diagnosis of Autism Spectrum Disorders Zachary Warren, PhD Vanderbilt Kennedy Center / TRIAD Department of Psychiatry / VUMC.

Typical Play ActivitiesTypical Play Activities

Play with a variety of toysPlay with a variety of toys

Use toys functionally Use toys functionally and flexiblyand flexibly

Create a variety of Create a variety of different play schemesdifferent play schemes

Act out real-life Act out real-life scenes with toysscenes with toys

Page 50: Early Assessment and Diagnosis of Autism Spectrum Disorders Zachary Warren, PhD Vanderbilt Kennedy Center / TRIAD Department of Psychiatry / VUMC.

Restricted Repetitive and Stereotyped Restricted Repetitive and Stereotyped BehaviorBehavior

Preoccupations/InterestsPreoccupations/Interests• Repetitive play, unusual interest in specific objects, Repetitive play, unusual interest in specific objects,

preferred objectpreferred object Inflexible adherence to non-functional routinesInflexible adherence to non-functional routines

• Distress around routing changes, toys in specific Distress around routing changes, toys in specific locations, repeats sequences, requires others to locations, repeats sequences, requires others to complete sequencescomplete sequences

Stereotyped motor mannerismsStereotyped motor mannerisms• Tensing/posturing, flapping, finger flicking, rocking, Tensing/posturing, flapping, finger flicking, rocking,

bouncingbouncing Preoccupation with parts of objectsPreoccupation with parts of objects

• Repeated activation of toys, spinning, switches, Repeated activation of toys, spinning, switches, visual inspection, sensory interests/vulnerabilitiesvisual inspection, sensory interests/vulnerabilities

Page 51: Early Assessment and Diagnosis of Autism Spectrum Disorders Zachary Warren, PhD Vanderbilt Kennedy Center / TRIAD Department of Psychiatry / VUMC.

Examples of Restricted ActivitiesExamples of Restricted Activities

Page 52: Early Assessment and Diagnosis of Autism Spectrum Disorders Zachary Warren, PhD Vanderbilt Kennedy Center / TRIAD Department of Psychiatry / VUMC.

Parental Descriptions of Parental Descriptions of Restricted ActivitiesRestricted Activities

““He plays with all of his toys by liningHe plays with all of his toys by lining them up”them up”

““He studies things very carefully”He studies things very carefully”

““He plays by dumping his blocks and thenHe plays by dumping his blocks and then putting them back again – over and over”putting them back again – over and over”

““He likes to drop objects and watch themHe likes to drop objects and watch them

fall”fall”

Page 53: Early Assessment and Diagnosis of Autism Spectrum Disorders Zachary Warren, PhD Vanderbilt Kennedy Center / TRIAD Department of Psychiatry / VUMC.

Restricted Activities/InterestsRestricted Activities/Interests

Red FlagsRed Flags

Less functional play, Less functional play, especially with dollsespecially with dolls

Less imaginative playLess imaginative play

Possibly:Possibly: repetitive motor repetitive motor behaviors, unusual visual interestsbehaviors, unusual visual interests

Page 54: Early Assessment and Diagnosis of Autism Spectrum Disorders Zachary Warren, PhD Vanderbilt Kennedy Center / TRIAD Department of Psychiatry / VUMC.

Behavioral Behavioral symptoms in the symptoms in the

socialsocial andand communicationcommunication

domains are the domains are the most reliable early most reliable early

indicators of autismindicators of autism

Early Symptoms of AutismEarly Symptoms of Autism

Page 55: Early Assessment and Diagnosis of Autism Spectrum Disorders Zachary Warren, PhD Vanderbilt Kennedy Center / TRIAD Department of Psychiatry / VUMC.

Behavioral symptoms in Behavioral symptoms in the domain of the domain of restricted restricted and repetitive interests and repetitive interests are are notnot reliable reliable indicators of autism in indicators of autism in very young childrenvery young children

Early Symptoms of AutismEarly Symptoms of Autism

Page 56: Early Assessment and Diagnosis of Autism Spectrum Disorders Zachary Warren, PhD Vanderbilt Kennedy Center / TRIAD Department of Psychiatry / VUMC.

Challenges in Identifying Challenges in Identifying Social-Communicative DeficitsSocial-Communicative Deficits

Negative symptomsNegative symptoms

Behaviors are demonstrated Behaviors are demonstrated inconsistently, not totally inconsistently, not totally

absentabsent

Parents are good at scaffoldingParents are good at scaffolding

Lack of clear expectations forLack of clear expectations for social milestones, “social social milestones, “social reciprocity” reciprocity”

Page 57: Early Assessment and Diagnosis of Autism Spectrum Disorders Zachary Warren, PhD Vanderbilt Kennedy Center / TRIAD Department of Psychiatry / VUMC.

Differential Diagnosis of ASDDifferential Diagnosis of ASD Developmental considerations may limit our Developmental considerations may limit our

ability to provide definitive diagnosis (i.e., ability to provide definitive diagnosis (i.e., extremely young children, differing extremely young children, differing developmental trajectories).developmental trajectories).

The state of our science limits the ability of The state of our science limits the ability of even top clinicians to provide definitive even top clinicians to provide definitive diagnosis in certain situations.diagnosis in certain situations.• May need more information from additional May need more information from additional

sources. sources. • May need to monitor development.May need to monitor development.• May need further evaluation.May need further evaluation.

Page 58: Early Assessment and Diagnosis of Autism Spectrum Disorders Zachary Warren, PhD Vanderbilt Kennedy Center / TRIAD Department of Psychiatry / VUMC.

Differential Diagnosis of ASD in Differential Diagnosis of ASD in young childrenyoung children

Anxiety disordersAnxiety disorders Global developmental delaysGlobal developmental delays Speech and language delaysSpeech and language delays Sensory impairment (hearing loss)Sensory impairment (hearing loss) Severe behavior dysregulationSevere behavior dysregulation Profound psychosocial challengesProfound psychosocial challenges Medical rule-outsMedical rule-outs

Page 59: Early Assessment and Diagnosis of Autism Spectrum Disorders Zachary Warren, PhD Vanderbilt Kennedy Center / TRIAD Department of Psychiatry / VUMC.

Diagnostic FormulationDiagnostic Formulation Diagnosis must weigh considerations of atypical Diagnosis must weigh considerations of atypical

development with typical developmental variability.development with typical developmental variability.

Diagnosis suggests impairment across numerous Diagnosis suggests impairment across numerous domains in numerous situations.domains in numerous situations.

Integrating information from multiple sources is Integrating information from multiple sources is important. important.

Variability within profiles is to be expected as social and Variability within profiles is to be expected as social and communicative behaviors are not all-or-none.communicative behaviors are not all-or-none.

Evaluations of consistency, flexibility, spontaneity, Evaluations of consistency, flexibility, spontaneity, quality, and context are crucial.quality, and context are crucial.

Page 60: Early Assessment and Diagnosis of Autism Spectrum Disorders Zachary Warren, PhD Vanderbilt Kennedy Center / TRIAD Department of Psychiatry / VUMC.

Clinical Applications:Clinical Applications:Early Screening and DiagnosisEarly Screening and Diagnosis

Page 61: Early Assessment and Diagnosis of Autism Spectrum Disorders Zachary Warren, PhD Vanderbilt Kennedy Center / TRIAD Department of Psychiatry / VUMC.

Autism-Specific Screening MeasuresAutism-Specific Screening Measuresfor children under 3 years oldfor children under 3 years old

CHATCHAT Baron-Cohen et al.,Baron-Cohen et al., 18m18m1992; 19961992; 1996

STATSTAT Stone et al., 2000; 2004Stone et al., 2000; 2004 24/14m24/14m

M-CHATM-CHAT Robins et al., 2001Robins et al., 2001 18/24m18/24m

CHAT-23CHAT-23 Wong et al., 2004Wong et al., 2004 MA>18mMA>18m

PDDST-IIPDDST-II Siegel, 2004Siegel, 2004 18m18m

ESATESAT Swinkels et al., 2006Swinkels et al., 2006 14m14m

Page 62: Early Assessment and Diagnosis of Autism Spectrum Disorders Zachary Warren, PhD Vanderbilt Kennedy Center / TRIAD Department of Psychiatry / VUMC.

Screening MeasuresScreening Measuresfor children under 3 years oldfor children under 3 years old

Stage 1Stage 1

(primary care)(primary care)Stage 2Stage 2

(referral)(referral)

Parental Parental ReportReport

M-CHATM-CHAT

PDDST-IIPDDST-II

ESATESATPDDST-IIPDDST-II

InteractiveInteractive CHAT*CHAT*

CHAT-23*CHAT-23*STATSTAT

* Also include parent report items

Page 63: Early Assessment and Diagnosis of Autism Spectrum Disorders Zachary Warren, PhD Vanderbilt Kennedy Center / TRIAD Department of Psychiatry / VUMC.

Screening is

important only if

something happens

next

Page 64: Early Assessment and Diagnosis of Autism Spectrum Disorders Zachary Warren, PhD Vanderbilt Kennedy Center / TRIAD Department of Psychiatry / VUMC.

Components of Gold Standard Components of Gold Standard AssessmentAssessment

Medical assessmentMedical assessment

Autism Diagnostic Interview – Revised (ADI-R)Autism Diagnostic Interview – Revised (ADI-R)• Structured clinical interviewStructured clinical interview• 90-180 minutes90-180 minutes

Autism Diagnostic Observation Schedule (ADOS)Autism Diagnostic Observation Schedule (ADOS)• Semi-structured interactionSemi-structured interaction• 45 minutes / 15 minutes scoring45 minutes / 15 minutes scoring

Developmental assessmentDevelopmental assessment• Cognitive/IQCognitive/IQ• Language Language • Adaptive behaviorAdaptive behavior

Page 65: Early Assessment and Diagnosis of Autism Spectrum Disorders Zachary Warren, PhD Vanderbilt Kennedy Center / TRIAD Department of Psychiatry / VUMC.

Components of Gold Standard Components of Gold Standard Assessment Assessment

Medical assessment:Medical assessment:• Sensory rule-outsSensory rule-outs• Co-occuring/contributing conditionsCo-occuring/contributing conditions• Neurodevelopmental and family riskNeurodevelopmental and family risk

Developmental assessment:Developmental assessment:• Overall level of functioningOverall level of functioning• Core areas of difficulty that may not be ASD Core areas of difficulty that may not be ASD

specificspecific• Clinical impression as linked with Clinical impression as linked with

intervention function intervention function

Page 66: Early Assessment and Diagnosis of Autism Spectrum Disorders Zachary Warren, PhD Vanderbilt Kennedy Center / TRIAD Department of Psychiatry / VUMC.

Components of Gold Standard Components of Gold Standard Assessment Assessment

ADI: Structured clinical interviewADI: Structured clinical interview• Developmental history and current Developmental history and current

functioningfunctioning ParentParent TeacherTeacher

ADOS: Structured interaction / observation ADOS: Structured interaction / observation • Anchor and inform developmental reportsAnchor and inform developmental reports• More contexts the betterMore contexts the better

Page 67: Early Assessment and Diagnosis of Autism Spectrum Disorders Zachary Warren, PhD Vanderbilt Kennedy Center / TRIAD Department of Psychiatry / VUMC.

Assessment Best Practices for Assessment Best Practices for Young ChildrenYoung Children

Gold-standard assessment in preschoolGold-standard assessment in preschool• Medical and genetic workupsMedical and genetic workups

Developmental EvaluationDevelopmental Evaluation• Adaptive behavior (VABS-II)Adaptive behavior (VABS-II)• Language (PLS, EVT, PPVT, Reynell)Language (PLS, EVT, PPVT, Reynell)• Cognitive performance (DAS-II, Mullen, Bayley)Cognitive performance (DAS-II, Mullen, Bayley)

Structured Interview and Parent/Teacher Report Structured Interview and Parent/Teacher Report of ASD symptomsof ASD symptoms• ADI or variantADI or variant

Diagnostic ObservationDiagnostic Observation• ADOS / STATADOS / STAT

Page 68: Early Assessment and Diagnosis of Autism Spectrum Disorders Zachary Warren, PhD Vanderbilt Kennedy Center / TRIAD Department of Psychiatry / VUMC.

General General

Approaches Approaches

to Diagnostic to Diagnostic

Assessment Assessment

of ASD in of ASD in

Young Young

ChildrenChildren

Page 69: Early Assessment and Diagnosis of Autism Spectrum Disorders Zachary Warren, PhD Vanderbilt Kennedy Center / TRIAD Department of Psychiatry / VUMC.

Different types Different types

of information of information

are available are available

from from clinical clinical

observationsobservations

vs. vs. parental parental

reports vs. reports vs.

teacher reportsteacher reports

Page 70: Early Assessment and Diagnosis of Autism Spectrum Disorders Zachary Warren, PhD Vanderbilt Kennedy Center / TRIAD Department of Psychiatry / VUMC.

Information available from Information available from parental/teacher reportparental/teacher report

Interactions with peersInteractions with peers

Imaginative playImaginative play

Setting-specific or rare Setting-specific or rare behaviorsbehaviors

(e.g., adherence to routines; stereotyped (e.g., adherence to routines; stereotyped body movements)body movements)

Language regressionLanguage regression

Page 71: Early Assessment and Diagnosis of Autism Spectrum Disorders Zachary Warren, PhD Vanderbilt Kennedy Center / TRIAD Department of Psychiatry / VUMC.

Information available from Information available from clinician observationsclinician observations

Subtle aspects of social relating Subtle aspects of social relating and reciprocityand reciprocity

Subtle deficits in nonverbal Subtle deficits in nonverbal communication communication

Markers in relation to typical and Markers in relation to typical and atypical developmentatypical development

Page 72: Early Assessment and Diagnosis of Autism Spectrum Disorders Zachary Warren, PhD Vanderbilt Kennedy Center / TRIAD Department of Psychiatry / VUMC.

ToolsTools

Structured Interview and Parent ReportStructured Interview and Parent Report• Numerous Numerous screeningscreening questionnaires questionnaires

CHAT, M-CHAT, PDDST-IICHAT, M-CHAT, PDDST-II ABC, CARS, GARS, PDDST, STAT, SCQABC, CARS, GARS, PDDST, STAT, SCQ

• These scores and psychometric properties of These scores and psychometric properties of the above suggest that gathered information / the above suggest that gathered information / scores from self-report should not stand alonescores from self-report should not stand alone

• Interviews provide structure surrounding Interviews provide structure surrounding developmental expectationsdevelopmental expectations

Page 73: Early Assessment and Diagnosis of Autism Spectrum Disorders Zachary Warren, PhD Vanderbilt Kennedy Center / TRIAD Department of Psychiatry / VUMC.

Eliciting Eliciting InformationInformation

Ask for examplesAsk for examples

and details and details • HowHow / / What does s/he do?What does s/he do?• How How oftenoften does she… does she…• In In what settingswhat settings does this does this

occur?occur?• Does this happen Does this happen spontaneously?spontaneously?• How hard do you have to workHow hard do you have to work to see this response)? to see this response)?• Does this happen with Does this happen with familiar and unfamiliar people?familiar and unfamiliar people?

Page 74: Early Assessment and Diagnosis of Autism Spectrum Disorders Zachary Warren, PhD Vanderbilt Kennedy Center / TRIAD Department of Psychiatry / VUMC.

Eliciting Information Eliciting Information

Comment on observed Comment on observed behavior to anchor behavior to anchor both involved. both involved.

**e.g. speaking the e.g. speaking the same language*same language*

Use the family’s Use the family’s words. words.

Refer to their Refer to their examples, examples, descriptions.descriptions.

Page 75: Early Assessment and Diagnosis of Autism Spectrum Disorders Zachary Warren, PhD Vanderbilt Kennedy Center / TRIAD Department of Psychiatry / VUMC.

Eliciting Accurate Information Eliciting Accurate Information from Diagnostic Interviewingfrom Diagnostic Interviewing

Provide response gradients rather than: Provide response gradients rather than: ““yes/no” yes/no” ““absent/present”absent/present”

““always/never” always/never”

Concrete markersConcrete markers

The diagnosis is in the detailsThe diagnosis is in the details

Page 76: Early Assessment and Diagnosis of Autism Spectrum Disorders Zachary Warren, PhD Vanderbilt Kennedy Center / TRIAD Department of Psychiatry / VUMC.

The state of things…The state of things…

We can identify core differences in We can identify core differences in young children that appear to be young children that appear to be meaningful in that they are stable meaningful in that they are stable over time and can link children with over time and can link children with appropriate intervention services.appropriate intervention services.

Page 77: Early Assessment and Diagnosis of Autism Spectrum Disorders Zachary Warren, PhD Vanderbilt Kennedy Center / TRIAD Department of Psychiatry / VUMC.

Challenges of Early Challenges of Early Assessment and DiagnosisAssessment and Diagnosis

Limited availability of community resources Limited availability of community resources • DiagnosticiansDiagnosticians• EI providers with autism expertiseEI providers with autism expertise• Educational and behavioral providersEducational and behavioral providers

Limitations in knowledgeLimitations in knowledge• Diagnosis under 24 monthsDiagnosis under 24 months• Qualitative differences in social-emotional Qualitative differences in social-emotional

behaviorbehavior• Developmental implicationsDevelopmental implications• Specific effective components of interventions.Specific effective components of interventions.

Need for complex medical and behavioral Need for complex medical and behavioral management following screening and management following screening and diagnosisdiagnosis

Page 78: Early Assessment and Diagnosis of Autism Spectrum Disorders Zachary Warren, PhD Vanderbilt Kennedy Center / TRIAD Department of Psychiatry / VUMC.

Future Directions for Future Directions for Early Identification Early Identification

ResearchResearch Examine stability of autism diagnosis Examine stability of autism diagnosis

under 24 monthsunder 24 months

Identify optimal approaches to screening, Identify optimal approaches to screening, evaluation, and diagnosis evaluation, and diagnosis

Develop and evaluate new approaches to Develop and evaluate new approaches to early intervention and preventionearly intervention and prevention

Identify methods for training community Identify methods for training community service providers to meet service need.service providers to meet service need.