Identifying Autism (Wendy Stone, Ph.D.)

8/7/2019 Identifying Autism (Wendy Stone, Ph.D.)

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Early Identification and

Screening for Autism

Wendy Stone, PhDVanderbilt Kennedy Center/TRIAD

National Press FoundationBoston, MA

October 15, 2007


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Overview

Why is early identification important?

How early can we diagnose autism

accurately?

What are the earliest behavioral signsof autism?

What are the implications for earlyscreening and intervention?


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Reasons for Early ID

Early diagnosisspecialized early intervention

Specialized interventionimproved social, behavioral,

cognitive, & language functioning

Capitalize on increased brain plasticity

1. To optimize child outcomes


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Alleviate parental

uncertainty

Provide access toresources & support

Foster networking & advocacy

Clarify genetic implications

2. To educate & empower families


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Identify core features

Define etiological subtypes

Delineate developmental

pathways & sequences

Develop tailored treatments

3. To understand causes and

improve treatments


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Current Practice Guidelinesrecommending early identification

and intervention

American Academy of Neurology (2000)

National Academy of Sciences (2001)

American Academy of Pediatrics (2001) 2006: Recommendation to begin autism screening

at 18 months


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How early can wemake an accurate

diagnosis of autism?


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Challenges of Early Diagnosis Diagnosis is behaviorally based

Increased behavioral variability at youngages

Overlapping symptoms with other

developmental disorders (e.g.,developmental delay, language delay/disorder)

Decreased applicability of currentdiagnostic measures to young children

Symptom expression is variable acrosschildren, settings, and time


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Early Diagnosis: HOW early?

18 months? - Insufficient data

24 months? - Good agreement, esp. for

experienced clinicians

- Good stability, esp. for more

severely impaired

30 months? - Better stability over time


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BehavioralFeatures

of Autism in

2-Year-Olds


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Diagnostic Criteria for Autism

3 CORE FEATURES:

Impairment in social interaction

and relating

Impairment in language andcommunication development

Restricted/repetitive activitiesand interests


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Negative vs Positive Symptoms Negative symptoms

- Absence of expected behaviorsrelative to developmental/ cultural norms

- Social and communication symptoms

Positive symptoms

- Presence of unusual behaviorsdue to nature, intensity, interference withfamily activities

-Restricted activities & interests


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Behavioral symptoms

in the social and

communication

domains are the most

reliable earlyindicators of autism

Early Symptoms of Autism


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Behavioral symptomsin the domain of

restricted and

repetitive interests are

not reliable indicators

of autism in veryyoung children



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Challenges in IdentifyingSocial-Communicative Deficits

Negative symptoms

Behaviors are demonstrated

inconsistently, not totally absent

Parents are good at scaffolding

Lack of clear expectations forsocial milestones, socialreciprocity


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Dimensions ofSocial Behavior

Engagement with adults

Interest/interactions withpeers

Affective expression &response


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Social Red Flags

Less responsive to social overtures

Less participation in back-and-forthplay

Less showing off for attention

Less imitation of the actions of others

Less interested in other children


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Parental Descriptions ofSocial Behaviors

Its hard to get his attentionHe seems to be in his own world

Everything he does is on his own termsHe completely ignores his baby sister

But also.

Hes very affectionate

He loves to wrestle with his dad


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Social behavior is notall-or-nothing

Social behaviors are not completely absent

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 differenttimes, requiring greater effort)


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Dimensions ofCommunication Behavior

Why children communicate(i.e., the purpose or function of the

specific communication)

How children communicate(i.e., the forms or methods ofcommunication used)


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Communication:

Typical Development

Young children communicate for many

reasons:

To request things they want

To protest about events that displease

them

To share their enjoyment with adults

To direct adults attention to objects or

events of interest


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Communication:

Typical Development

Young children use a variety of

verbal & nonverbal behaviors to

communicate:

Gestures

Eye contact

Facial expressions

Vocalizations


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CommunicationRed Flags

Less communication to direct another

persons attention

Less use of gestures to communicate

Less use of eye contact to communicate

Inconsistent response to sounds/name


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Parental Descriptions ofCommunication Behaviors

He gets things by himself

He cant tell me what he wants

He takes my hand and pulls me towhatever it is he wants

He repeats lines and songs from videosbut doesnt use words to ask for things

We thought he couldnt hear


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Language Red Flags

No babbling, pointing, or other gestures by 12months

No single words by 16 months

No spontaneous two-word phrases by 24 months

Loss of language skills at any age

Source: AAN Practice Parameters


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Dimensions of Restricted &Repetitive Behaviors

Use of objects

Use of body

Use of senses

Routines


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Typical Play Activities

Play with a variety of toys

Use toys functionally

and flexibly

Create a variety of

different play schemes

Act out real-life

scenes with toys


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Restricted Activities/Interests

Red Flags

Less functional play, especially with

dolls

Less imaginative play

Possibly: repetitive motor behaviors, unusual

visual interests


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Parental Descriptions ofRestricted Activities

He plays with all of his toys by liningthem up

He studies things very carefully

He plays by dumping his blocks and then

putting them back again over and overHe likes to drop objects and watch themfall


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Social- Restricted

communication interestsdeficits & activities

XX


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Research with ChildrenUnder 24 Months

Research Approaches:Retrospective

Parental reportsAnalysis of early home videos

Record reviews

Prospective

High-risk populations

Screening

failures

Younger

siblings


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Advantages of Studying

Younger Siblings

Elevated risk for autism & related behaviors

(i.e., broader phenotype)

Opportunity to learn about earliest signs &developmental trajectories (i.e., from birth)

Increase our understanding of genetic

influences/mechanisms

Assist families through monitoring & referral


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Autism Symptoms Under 24 Months(replicated findings from prospective studies)

Reduced social engagement:

Responding

attendingwhen name

is called

following apoint

Initiating

looking at others

sharing enjoyment

directing attention

by pointing to or

showing objects


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Vanderbilt Sibling StudyStone et al., Archives of Pediatrics and Adolescent Medicine, 2007

Sample

Sibs-ASD Sibs-TD(n=64) (n=42)

Age (mos.) 16.3 (3.8) 16.2 (3.4)12-23 12-23

% Male 55% 60%

% Caucasian 83% 93%


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Vanderbilt Sibling StudyMeasures

Observl Par. Report

Social- STAT, CARS DAISI

Behl Responding to JA

Lang- Mullen Rec. & MacArthur CDI

Comm Exp. Language

Cognitive Mullen Total


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Cognitive Results:Mullen Scales of Early Learning

Sibs-ASD Sibs-TD

Vis. Reception** 48.3 (8.9) 54.8 (7.9)

Fine Motor 53.1 (9.1) 54.8 (7.7)

Rec. Language 43.8 (12.6) 48.2 (10.8)

Exp. Language 45.1 (11.1) 48.7 (10.5)

Composite (ELC)* 95.6 (14.7) 103.4 (11.8)

* p< .05 **p< .01


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Language/Communication

Results: MacArthur CDI

Sibs-ASD Sibs-TD

# Words Used 42.4 (68.1) 40.8 (67.4)

# WordsUnderstood* 118.3 (97.9) 157.2 (97.2)

# Gestures Used** 7.5 (2.9) 8.9 (1.9)

# PhrasesUnderstood** 15.3 (8.7) 20.2 (6.1)


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Social/Behavioral Results (1)

Sibs-ASD Sibs-TD

DAISI* 12.8 (3.3) 14.4 (1.2)

CARS** 19.1 (4.7) 16.2 (1.1)

RJA prop. of trials

w/ correct looks* .21 (.16) .30 (.17)

* p< .05 ** p< .01


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Social/Behavioral Results (2)

Sibs-ASD Sibs-TD

STAT Total* 2.1 (0.9) 1.8 (0.8)

STAT Imitation*(# passes) 2.3 (1.2) 2.7 (0.9)

STAT Dir Attn*(# passes) 1.2 (1.1) 1.7 (1.1)

* p< .05


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Summary of Results

from Sibling Studies

As a group, Sibs-ASD demonstrate weakercognitive, affective, & social-communicative

skills at 14-18 months of age, compared with

Sibs-TD

These developmental differences are

present in a substantial minority of Sibs-ASD Differences are found for observational

measures as well as parental reports


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What are the implications?

Are these developmental differences

clinicallymeaningful?

Will they resolve or worsen over time?

Is intervention needed?

To what extent are these differences

predictive of autism, or indicative of thebroader phenotype?


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Implications forearly screening &

intervention


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Implications forautism screening

Screening should focus on coresocial-communication deficit areas

Screening measures should be age-sensitive

Younger siblings of children withautism should receive routinescreening


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Purpose of Autism Screening

By facilitating referrals for

specialized assessment

By expediting access to

specialized intervention

By providing information useful

for developing targeted

intervention goals and activities

To improve developmental outcomes:


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

STATCHAT*CHAT-23*

Interactive

PDDST-II

M-CHAT

PDDST-II

ESAT

ParentalReport

Stage 2(referral)Stage 1(primary care)

* Also include parent report items


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Unique Functions ofUnique Functions of

InteractiveInteractive Screening ToolsScreening Tools

To plan intervention goals & activities(in social & communication domains)

To communicate with parents (aboutareas of concern)

As teaching tools (to educate parents &community professionals about early red flags)


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Early Screening Process

Screening

Referral

Evaluation

Specialized Intervention


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Early Screening Process

Stage 1 Screening

Referral

Evaluation

Specialized Intervention

CONCERNS

DELAY

Stage 2InteractiveScreening


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Screening is

important only ifsomething happens

next

Components of Effective


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Components of Effective

Early Intervention for Autism

Comprehensive, multidisciplinary approach

Parent involvement

Specialized teaching strategies

Individualized goals and activities

Focus on specific deficit areas

Intensive services (25 hrs/wk)

Identifying Autism (Wendy Stone, Ph.D.)

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