Autism in Pediatrics: Putting the Puzzle Together

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Toddler Screening for Autism
Spectrum Disorders:
The Modified Checklist for Autism
in Toddlers (M-CHAT)
Diana L. Robins, Ph.D.
Georgia State University
drobins@gsu.edu
www.mchatscreen.com
Pervasive Developmental
Disorders
Autistic Disorder (autism)
Asperger’s Disorder
Rett’s Disorder
Childhood Disintegrative Disorder
Pervasive Developmental Disorder,
Not Otherwise Specified (PDD-NOS)
Collectively called the autism
spectrum or the PDD spectrum
DSM-IV Diagnostic Criteria for Autism
Early Deficits in Language & Communication
Impairments in Reciprocal Social Interaction
Restrictive, Repetitive, Stereotyped Behavior
Autism Criteria: Social Impairment
Marked impairment in the use of multiple
nonverbal behaviors such as eye-to-eye gaze,
facial expression, body postures, and gestures
to regulate social interaction
Failure to develop peer relationships
appropriate to developmental level
Lack of spontaneous seeking to share
enjoyment, interests, or achievements with
other people (e.g., by a lack of showing,
bringing, or pointing out objects of interest)
Lack of social or emotional reciprocity
Red Flags in Toddlers: Social
Lack of pointing (esp. to declare interest)
Reduced joint attention
Failure to orient to parent’s face
Reduced response to name or voice
Lack of interest in peers
Failure to brings things to show parent
Reduced eye contact
Autism Criteria: Communication Deficits
Delay in, or total lack of, the development of
spoken language (not accompanied by an attempt
to compensate through alternative modes of
communication such as gesture or mime)
In individuals with adequate speech, marked
impairment in the ability to initiate or sustain a
conversation with others
Stereotyped and repetitive use of language or
idiosyncratic language
Lack of varied, spontaneous make-believe play or
social imitative play appropriate to developmental
level
Red Flags in Toddlers: Communication
Delay in, or total lack of, the development
of spoken language is the
MOST COMMON PRESENTING
CONCERN, but not specific to ASD
Stereotyped and repetitive use of language
or idiosyncratic language
Red Flags in Toddlers: Play
ď‚•Limited play skills
• Reduced or absent pretend play
• Reduced or absent imitative play
Autism Criteria: Restricted, Repetitive, Stereotyped
Behaviors, Interests, & Activities
Encompassing preoccupation with one or more
stereotyped and restricted patterns of interest that
is abnormal either in intensity or focus
Apparently inflexible adherence to specific,
nonfunctional routines or rituals
Stereotyped and repetitive motor mannerisms
(e.g., hand or finger flapping or twisting, or
complex whole-body movements)
Persistent preoccupation with parts of objects
Red Flags in Toddlers: Restricted, Repetitive,
Stereotyped Behaviors, Interests, & Activities
Often emerge later than symptoms in the
social and communication domains
When present in toddlers, generally the
lower-order, or less sophisticated
behaviors, rather than preoccupations and
rituals, which may require more cognitive
skills
Diagnostic Criteria for Pervasive
Developmental Disorder, Not
Otherwise Specified (PDD-NOS)
Impairment(s) in Reciprocal Social Interaction
AND one of the following:
Early Deficit in Language & Communication
OR
Restrictive, Repetitive, Stereotyped Behavior
Motivation for Early Detection
Severity of diagnosis
Outcome improved by early intervention
(Baird et al., 2001; Bryson, Rogers, & Fombonne, 2003; Dawson, Ashman, &
Carver, 2000; Lord, 1995; Prizant & Wetherby, 1988)
Practice Parameters (Filipek et al., 1999, 2000)
emphasized need for improved early
detection
Delay in Diagnosis
12 mos
24 mos
{
{
Birth
Parents first Child seen
concerned
by specialist
(15-22 mos) (20-27 mos)
36 mos
?
Often further
delay until
definitive
diagnosis
ASD-specific factors that
influence the success of
early detection
Heterogeneity in presentation
Physicians’ time with children is brief
Absence of typical behavior is challenging to
detect
Motor milestones are usually preserved
Positive signs of ASD may develop later than
social and communication deficits
AAP Screening Guidelines
2006 AAP Policy Statement (Pediatrics 118, 405-420)
• Surveillance at all well-child visits
• Broad developmental screening at 9, 18, and
24/30 months
• ASD-specific screening at 18 months
Gupta et al. (2007) comment on Policy Statement
(Pediatrics, 119, 152-153)
• ASD-specific screening at 18 and 24 months
2007 AAP Clinical Report (Johnson et al., Pediatrics 120,
1183-1215)
• recap of ASD screening recommendations
Need for Screening Tools
Standardized
Supplement professional observation or
surveillance
Clinical impressions are not sufficient (Johnson,
2007)
Clear algorithms for referral to specialists for
diagnostic evaluation are expected to reduce
age of diagnosis, and facilitate onset of early
intervention services
Available English-Language Toddler
Screening Instruments
Checklist for Autism in Toddlers
(CHAT; Baron-Cohen et al., 1992, 1996)
Pervasive Developmental Disorders
Screening Test-II (PDDST-II; Siegel, 2004)
Screening Tool for Autism in TwoYear-Olds (STAT; Stone et al., 2000, 2004)
Social Communication Questionnaire
(Rutter, Bailey, & Lord, 2003)
Available English-Language Toddler
Screening Instruments, cont.
Autism Observation Scale for Infants
(Zwaigenbaum et al., 2008)
Systematic Observation of Red Flags
(Wetherby et al. 2004)
Developmental Behavior Checklist, Early
Screen (Gray et al., 2005)
Quantitative Checklist for Autism in
Toddlers (Allison et al., 2008)
Modified Checklist for Autism in
Toddlers (M-CHAT; Robins et al., 1999, 2001)
M-CHAT (Robins, Fein, & Barton, 1999)
Eliminated CHAT observation section
Expanded CHAT parent report section
• Literature
• Clinical judgment
Age range: 16-30 months
Administration time: 5-10 minutes
Goal: Identify all ASD, not just autism
2nd goal after Baird et al., 2000 CHAT
paper published: improve sensitivity
9 CHAT
items
Follow-Up Interview Sample
How to Score the M-CHAT
For all items except 11, 18, 20, & 22 a
response of NO is a screen positive
response
Items 2, 7, 9, 13, 14, 15 are critical
A child screens positive if the critical
score is 2 or more OR if the total score is
3 or more
Scoring instructions, template, and Excel
scoring program available for download
from www.mchatscreen.com
Overview of the M-CHAT
Research in Multiple Low-Risk
(Primary Care) Samples
Total Screened (N=10,837)
Not at
Risk
Pass
(N=9938)
Pass
(N=598)
AT RISK
Need Interview (N=899)
Not at
Risk
Declined/
Excluded
(N=169)
= 6-10%
AT RISK
Evaluation
(N=132 +29*)
Non-ASD Declined
(N=54)
(N=57)
= 16-24%
ASD
(N=50)
Kleinman et al., 2008; Pandey et al., 2008; Robins, 2008
Comparison between UConn and GSU
Low-Risk Samples
Failed M-CHAT
Of those interviewed,
failed interview
Of those evaluated based
on M-CHAT and interview,
diagnosed with ASD
UConn
N=6050
GSU
N=4797
Pandey et al., 2008
Robins, 2008
6.74% 9.71%
19.83% 16.85%
43.28% 56.76%
PP
Psychometric Properties:
Sensitivity
Ability to detect illness when truly present
True positives/all ASD in sample
True positives/True positives + misses
TP/(TP+FN)
ASD
nonASD
Screen +
Screen -
TP
FP
FN
TN
Psychometric Properties: Positive
Predictive Value
Likelihood that positive result is a true
positive case; Confidence that screen
positive means significant risk of ASD
True positives/all screen positives
TP/(TP+FP)
ASD
nonASD
Screen +
Screen -
TP
FP
FN
TN
Other Findings
Prevalence in this sample: 1 in 217
Most of the remaining 54 children flagged
by M-CHAT + Interview had significant
language or global developmental delays
(6 typically developing)
Cases who passed the M-CHAT but were
flagged by the pediatrician did not
improve detection of ASD
Effects of Maternal Education on
M-CHAT Screening
% Failed M-CHAT
p=.001
< Bachelor’s deg
≥ Bachelor’s deg
(n=376)
(n=380)
Zaj et al., 2007
Maternal Education, cont.
% Failed Follow-up Interview
p=.000
< Bachelor’s deg
≥ Bachelor’s deg
(n=376)
(n=380)
Zaj et al., 2007
Follow-up at age 4
1416 re-screened to date
Only two possible missed cases detected
so far
75% ASD cases retain diagnosis
25% no longer have ASD, although 60%
of the “recovered” cases continue to have
other mental health problems
(Kleinman, Robins et al., 2008)
Psychometric Properties of the
M-CHAT
Sensitivity high, estimated in the 8090% range
Specificity mid-high 90s
PPV of M-CHAT alone is low (.1-.4)
PPV of M-CHAT + Interview is
moderate (.5-.6)
Kleinman et al., 2008; Pandey et al., 2008; Robins, 2008
Goals of the Ongoing M-CHAT
Study
Screen an additional 20,000 children
over the next 4-5 years (half in metroAtlanta, half in Connecticut)
Refine the M-CHAT
Better characterize ASD in toddlers to
facilitate early detection of ASDs &
early intervention
Practical Issues in Screening for
ASD
Who to screen: everyone
When to screen: 18 and 24-month wellchild visits, PLUS other ages when
surveillance indicates ASD concerns
How to screen: use a standardized,
validated instrument
Incorporate Screening in the
Primary Care Setting
Parents complete screen prior to, or at
beginning of, well-child check-up
Physician or other healthcare
professional reviews results during visit
Respond immediately to screen positive
cases
How to Respond to a Screen
Positive Case
Refer to a specialist for diagnosis
• Psychologist
• Developmental pediatrician
• Autism centers
Refer to early intervention
• Babies Can’t Wait
• Private providers
Coordinate care
Georgia State University
Diana L. Robins, Ph.D.
Current postdocs, grad
students and postbacs:
Sharlet Anderson
Margaret Banks
Julia Juechter
Meena Khowaja
Susan McManus
Kimberly Oliver
Vivian Piazza
Agata Rozga
Noelle Santorelli
Jamie Zaj
Current Undergrads: Rebecca Bosch, April Coignard,Lora Henderson, Mirjana Ivanisevic,
Amy Lasher, Molly Locklear, Robert Rivera, Janice Taylor, Sheniece Willis, Amber Wimsatt,
Shelly Zody
Previous lab members who contributed to the M-CHAT study: Assata Abayomi, Lyntovia Ashe,
Nicolle Angeli, Jasmine Brigham, Laura Burch, Esther Choi, Leo Eng, Lama Farran, Wendy Greenway,
Shelley Hinkle, Sean Hirt, Margaret Jones, Puja Joshi, Amy Lasher, Cassie Lovett, Melissa Nikolic,
Christina Parfene, Ashley Proctor, Corey Reed, Ali Scott, Catherine Shelton, Gina Vanegas, Lisa Wiggins
Center for Behavioral Neuroscience, NSF Agreement # IBN-9876754
2R01HD 035612, R01HD 039961, GSU-CDC Seed Grant
UConn Acknowledgements
Deborah Fein, Ph.D.
Marianne Barton, Ph.D.
James Green, Ph.D.
Thyde Dumont-Mathieu, M.D.
Hilary C. Boorstein, B.A.
Pamela Ventola, Ph.D.
Emma L. Esser, M.A.
Sarah Hodgson, Ph.D.
Jamie Kleinman, Ph.D.
Gail Marshia, M.S.W.
National Institute of Child
Health and Development
Maternal and Child Health
Bureau
National Alliance for Autism
Research/Autism Speaks
National Institute of Mental
Health
Juhi Pandey, Ph.D.
Michael A. Rosenthal, M.A.
Saasha Sutera, M.A.
U.S. Department of
Education
Alyssa D. Verbalis, M.A.
Leandra B. Wilson, M.A.
Eva Troyb, B.A.
Katelin Carr, B.A.
UConn Research
Foundation
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