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Early Identification and

Screening for Autism

Wendy Stone, PhD


Vanderbilt Kennedy Center/TRIAD

National Press Foundation


Boston, MA
October 15, 2007
Overview

• Why is early identification important?


• How early can we diagnose autism
accurately?
• What are the earliest behavioral signs
of autism?
• What are the implications for early
screening and intervention?
Reasons for Early ID

1. To optimize child outcomes

Early diagnosis Æ
specialized early intervention

Specialized intervention Æ
improved social, behavioral,
cognitive, & language functioning

Capitalize on increased brain plasticity


Reasons for Early ID

2. To educate & empower families

Alleviate parental
uncertainty

Provide access to
resources & support

Foster networking & advocacy


Clarify genetic implications
Reasons for Early ID

3. To understand causes and


improve treatments
Identify core features

Define etiological subtypes

Delineate developmental
pathways & sequences

Develop tailored treatments


Current Practice Guidelines
recommending 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
How early can we
make an accurate
diagnosis of autism?
Challenges of Early Diagnosis
• Diagnosis is behaviorally based
• Increased behavioral variability at young
ages
• Overlapping symptoms with other
developmental disorders (e.g.,
developmental delay, language delay/disorder)

• Decreased applicability of current


diagnostic measures to young children
• Symptom expression is variable across
children, settings, and time
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


Behavioral
Features
of Autism in
2-Year-Olds
Diagnostic Criteria for Autism

3 CORE FEATURES:

• Impairment in social interaction


and relating
• Impairment in language and
communication development
• Restricted/repetitive activities
and interests
Negative vs Positive Symptoms

• Negative symptoms
- Absence of expected behaviors
relative to developmental/ cultural norms
- Social and communication symptoms

• Positive symptoms
- Presence of unusual behaviors
due to nature, intensity, interference with
family activities
- Restricted activities & interests
Early Symptoms of Autism

Behavioral symptoms
in the social and
communication
domains are the most
reliable early
indicators of autism
Early Symptoms of Autism

Behavioral symptoms
in the domain of
restricted and
repetitive interests are
not reliable indicators
of autism in very
young children
Challenges in Identifying
Social-Communicative Deficits

• Negative symptoms
• Behaviors are demonstrated
inconsistently, not totally absent
z Parents are good at scaffolding

z Lack of clear expectations for


social milestones, “social
reciprocity”
Dimensions of
Social Behavior

• Engagement with adults


• Interest/interactions with
peers
• Affective expression &
response
Social Red Flags

• Less responsive to social overtures


• Less participation in back-and-forth
play
• Less “showing off” for attention
• Less imitation of the actions of others
• Less interested in other children
Parental Descriptions of
Social Behaviors
“It’s hard to get his attention”
“He seems to be in his own world”
“Everything he does is on his own terms”
“He completely ignores his baby sister”
But also….

“He’s very affectionate”


“He loves to wrestle with his dad”
Social behavior is not
all-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 different
times, requiring greater effort)
Dimensions of
Communication Behavior

• Why children communicate


(i.e., the purpose or function of the
specific communication)

• How children communicate


(i.e., the forms or methods of
communication used)
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 adult’s attention to objects or
events of interest
Communication:
Typical Development
Young children use a variety of
verbal & nonverbal behaviors to
communicate:

Gestures
Eye contact
Facial expressions
Vocalizations
Communication
Red Flags

• Less communication to direct another


person’s attention
• Less use of gestures to communicate

• Less use of eye contact to communicate


• Inconsistent response to sounds/name
Parental Descriptions of
Communication Behaviors
“He gets things by himself”

“He can’t tell me what he wants”


“He takes my hand and pulls me to
whatever it is he wants”
“He repeats lines and songs from videos
but doesn’t use words to ask for things”
“We thought he couldn’t hear”
Language Red Flags

• No babbling, pointing, or other gestures by 12


months
• 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


Dimensions of Restricted &
Repetitive Behaviors

• Use of objects
• Use of body
• Use of senses
• Routines
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
Restricted Activities/Interests
Red Flags

• Less functional play, especially with


dolls
• Less imaginative play

Possibly: repetitive motor behaviors, unusual


visual interests
Parental Descriptions of
Restricted Activities
“He plays with all of his toys by lining
them up”
“He studies things very carefully”
“He plays by dumping his blocks and then
putting them back again – over and over”
“He likes to drop objects and watch them
fall”
Early Symptoms of Autism
Social- Restricted
communication interests
deficits & activities

9 9
9 X

X 9
Research with Children
Under 24 Months
Research Approaches:
Retrospective
Parental reports
Analysis of early home videos
Record reviews
Screening
Prospective failures

High-risk populations Younger


siblings
Advantages of Studying
Younger Siblings
z Elevated risk for autism & related behaviors
(i.e., “broader phenotype”)

z Opportunity to learn about earliest signs &


developmental trajectories (i.e., from birth)

z Increase our understanding of genetic


influences/mechanisms

z Assist families through monitoring & referral


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

Reduced social engagement:


Responding Initiating
• attending • looking at others
when name
• sharing enjoyment
is called
• directing attention
• following a
by pointing to or
point
showing objects
Vanderbilt Sibling Study
Stone 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%


Vanderbilt Sibling Study
Measures

Observ’l Par. Report

Social- STAT, CARS DAISI


Beh’l Responding to JA

Lang- Mullen Rec. & MacArthur CDI


Comm Exp. Language

Cognitive Mullen Total


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


Language/Communication
Results: MacArthur CDI
Sibs-ASD Sibs-TD

# Words Used 42.4 (68.1) 40.8 (67.4)

# Words
Understood* 118.3 (97.9) 157.2 (97.2)

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

# Phrases
Understood** 15.3 (8.7) 20.2 (6.1)
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


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
Summary of Results
from Sibling Studies

– As a group, Sibs-ASD demonstrate weaker


cognitive, 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
What are the implications?

• Are these developmental differences


clinically meaningful?
• Will they resolve or worsen over time?
• Is intervention needed?
• To what extent are these differences
predictive of autism, or indicative of the
broader phenotype?
Implications for
early screening &
intervention
Implications for
autism screening

• Screening should focus on core


social-communication deficit areas
• Screening measures should be age-
sensitive
• Younger siblings of children with
autism should receive routine
screening
Purpose of Autism Screening

To improve developmental outcomes:

– By facilitating referrals for


specialized assessment
– By expediting access to
specialized intervention

– By providing information useful


for developing targeted
intervention goals and activities
Screening Measures
for children under 3 years old

Stage 1 Stage 2
(primary care) (referral)

Parental M-CHAT
PDDST-II PDDST-II
Report
ESAT

CHAT* STAT
Interactive
CHAT-23*

* Also include parent report items


Unique Functions of
Interactive Screening Tools

• To plan intervention goals & activities


(in social & communication domains)

• To communicate with parents (about


areas of concern)

• As teaching tools (to educate parents &


community professionals about early red flags)
Early Screening Process

Screening

Referral

Evaluation

Specialized Intervention
Early Screening Process

CONCERNS

Stage 1 Screening

Referral Stage 2
Interactive
Screening
Evaluation
DELAY

Specialized Intervention
Screening is
important only if
something happens
next
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)

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