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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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Reasons for Early ID
Alleviate parental
uncertainty
Provide access toresources & support
Foster networking & advocacy
Clarify genetic implications
2. To educate & empower families
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Reasons for Early ID
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
Early Symptoms of Autism
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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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Early Symptoms of Autism
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)