Detecting ASD in the First Year of Life: The Bioethical Dilemma of Identifying Prodromal Autism Celine A. Saulnier, Ph.D. Clinical Director for Research Marcus Autism Center Children’s Healthcare of Atlanta Assistant Professor Division of Autism & Related Disorders Department of Pediatrics Emory University School Medicine Marcus Autism Center is an affiliate ofof Children’s Healthcare of Atlanta. ©2006 Children’s Healthcare of Atlanta Inc. All rights reserved. Acknowledgments Ami$Klin,$PhD$ Director,)Marcus)Au/sm)Center,)Children's)Healthcare)of)Atlanta) Professor)&)Chief,)Division)of)Au/sm)&)Related)Disorders) Department)of)Pediatrics,)Emory)University)School)of)Medicine)) Warren$Jones,$PhD$ Research)Director,)Marcus)Au/sm)Center)) Children's)Healthcare)of)Atlanta) Assistant)Professor,)Division)of)Au/sm)&)Related)Disorders) Department)of)Pediatrics,)Emory)University)School)of)Medicine)) Amy$Wetherby,$CCC7SLP,$PhD$ Dis/nguished)Professor)&)Director,)Au/sm)Ins/tute) Laurel)Schendel)Professor)of)Communica/on)Disorders) Florida)State)University)College)of)Medicine) 2 Marcus Autism Center is an affiliate of Children’s Healthcare of Atlanta. ©2006 Children’s Healthcare of Atlanta Inc. All rights reserved. 1 Risk for ASD IN THE GENERAL POPULATION: ! ASD: 1 in 68 IN SIBLINGS OF CHILDREN WITH ASD: ! ASD: 1 in 5 (~20% risk) ! Broader Autism Phenotype (“shadow symptoms”): 1 in 5 ! Non-ASD developmental delays: 1 in 10 Approximately 50% of subsequent siblings are at risk for developmental vulnerabilities, including autism 3 Marcus Autism Center is an affiliate of Children’s Healthcare of Atlanta. ©2006 Children’s Healthcare of Atlanta Inc. All rights reserved. Risk Factors for Autism in Infancy * No babbling or cooing by 12 months * No single words by 16 months * No spontaneous two-word phrases by 24 months (not including echolalia/scripting) * No use of social gestures by 12 months (point, wave, grasp) * No response to name * Limited imitation skills * Regression or plateau of skills 4 Marcus Autism Center is an affiliate of Children’s Healthcare of Atlanta. ©2006 Children’s Healthcare of Atlanta Inc. All rights reserved. 2 Risk Perception vs. Risk Communication Risk Perception • Clinician vs. parent perception – what is the knowledge about risk signs for ASD? • Do perceptions alter actions (e.g. whether or not to treat)? • Are perceptions influenced by comparisons (e.g., profile of older sibling)? 5 Marcus Autism Center is an affiliate of Children’s Healthcare of Atlanta. Risk Communication • How much/little do we know about risk signs? • How are clinicians communicating “At risk” vs. “diagnosis” • What are the benefits/ consequences to making erroneous judgments? • False positives? • False negatives? ©2006 Children’s Healthcare of Atlanta Inc. All rights reserved. How often should we screen for ASD and how? American Academy of Pediatrics Developmental Surveillance: www.aap.org Autism-specific screening is recommended for all children at the 18 and 24 month well-child visits. Is this enough??? 3 Clinical Screening & Early Detection WHO IS ON THE FRONT LINE?????? • Parents/Caregivers • Pediatricians/Primary Care Physicians • Daycare Providers/Preschools • Early Intervention Providers • Specialty Clinics (e.g., CHOA, Marcus, Private Practice Clinicians) cdc.gov/ncbddd/actearly 7 Marcus Autism Center is an affiliate of Children’s Healthcare of Atlanta. ©2006 Children’s Healthcare of Atlanta Inc. All rights reserved. Screening Measures for ASD 4 Experimental Measures: Translating Science into Clinical Care Social visual engagement: infants (0 to 36 months) Social vocal engagement: infants (0 to 36 months) NIMH Autism Center of Excellence Treatment: infants & toddlers (12 to 14 months) Behavioral Neuroscience: infant rhesus monkeys Eye Tracking Studies in ASD Klin, Jones, Schultz, Volkmar, & Cohen (2002) American Journal of Psychiatry 10 Marcus Autism Center is an affiliate of Children’s Healthcare of Atlanta. ©2006 Children’s Healthcare of Atlanta Inc. All rights reserved. 5 Focus on Mouths vs. Eyes Klin, Jones, Schultz, Volkmar, & Cohen (2002) American Journal of Psychiatry 11 Marcus Autism Center is an affiliate of Children’s Healthcare of Atlanta. ©2006 Children’s Healthcare of Atlanta Inc. All rights reserved. Tracing a Romantic Love Triangle Klin, Jones, Schultz, Volkmar, & Cohen (2002) American Journal of Psychiatry 12 Marcus Autism Center is an affiliate of Children’s Healthcare of Atlanta. ©2006 Children’s Healthcare of Atlanta Inc. All rights reserved. 6 Toddler Eye Tracking Studies (Klin et al., Nature, 2009; Jones, Carr, & Klin, Arch Gen Psych, 2008) 13 Typically Developing Toddler Toddler with Autism Marcus Autism Center is an affiliate of Children’s Healthcare of Atlanta. ©2006 Children’s Healthcare of Atlanta Inc. All rights reserved. Typically-developing 2-year-olds fixate on the same locations, at the same moments, during 80% of viewing time. 14 Marcus Autism Center is an affiliate of Children’s Healthcare of Atlanta. ©2006 Children’s Healthcare of Atlanta Inc. All rights reserved. 7 Infant Eye Tracking Studies Klin & Jones Infants followed from Birth through Age 3 Years Eye Tracking: 2, 3, 4, 5, 6, 9, 12, 15, 18, 24, & 36 months Clinical Assessments: 9, 12, 18, 24, & 36 months Creating Growth Charts of Social Visual Engagement Marcus Autism Center is an affiliate of Children’s Healthcare of Atlanta. percent fixation 15 ©2006 Children’s Healthcare of Atlanta Inc. All rights reserved. TD eyes ASD eyes TD, N=25, male, 1637 trials ASD, N=11, male, 747 trials age (months) mean 95% CI 8 Eye Fixation (Jones & Klin, Nature, 2013) 17 Marcus Autism Center is an affiliate of Children’s Healthcare of Atlanta. ©2006 Children’s Healthcare of Atlanta Inc. All rights reserved. Universal Screening • High-throughput, lowcost, deployment of universal screening in the community • Objective, quantitative measures of risk • Early detection, early intervention, optimal outcome • Prevention or attenuation of intellectual disability in ASD 18 Marcus Autism Center is an affiliate of Children’s Healthcare of Atlanta. ©2006 Children’s Healthcare of Atlanta Inc. All rights reserved. 9 Developed by the FSU Autism Institute and Florida Center for Interactive Media Collaboration of Amy Wetherby, Juliann Woods, Nancy Wiseman, Ami Klin, Jennifer Stapel-Wax, and Marcus Autism Center with national experts, agency representatives, practitioners, & family members Founding states are Florida, Pennsylvania, Tennessee & Georgia Slides courtesy of Jennifer Stapel-Wax, Ph.D. & Amy Wetherby, Ph.D. Best Practice in Diagnosing ASD under the age of 2 (Zwaigenbaum, Bryson, Lord et al., Pediatrics 2009) 1. Diagnostic process led by an experienced clinician knowledgeable of infants/toddlers & ASD 2. Standardized observation & assessment of: * Social, communication, & play skills * Cognitive, language, & adaptive skills * Repetitive behaviors, unusual interests, etc. 3. Parent report & developmental history of: * Social, communication, & play skills * Repetitive behaviors, unusual interests, etc. * Sleep, feeding, sensorimotor issues 4. Clinical judgment of experienced clinicians consulting w/ & interpreting results from a multidisciplinary team 20 Marcus Autism Center is an affiliate of Children’s Healthcare of Atlanta. ©2006 Children’s Healthcare of Atlanta Inc. All rights reserved. 10 Challenges associated with Early Detection (Zwaigenbaum, Bryson, Lord et al., Pediatrics 2009) 21 1. Subtle symptom-expression early on * Higher functioning children * Absence of language delays * Plateau/regression occurring after 18-months 2. Diagnostic differentiation early on * Global/severe developmental delays vs. ASD * Specific language impairments vs. ASD * Visual/hearing imairments vs. ASD * Siblings who present w/ ASD-like symptoms 3. Stability of diagnosis * Uncertain trajectories for those diagnosed under the age of 2 (at age 2, research shows generally reliable & stable diagnoses) Marcus Autism Center is an affiliate of Children’s Healthcare of Atlanta. ©2006 Children’s Healthcare of Atlanta Inc. All rights reserved. Recommendations for Risk Communication (Working Group in Autism Risk Communication & Ethics, 2012) 1. Require risk communication as part of CE/CME training 2. Develop “tool kits” for risk communication distribution to providers 3. “Meet families where they are” 4. Train professionals on how to communicate risk in the face of scientific uncertainty 5. Address risk factors as they become public knowledge (e.g., Nature paper) 6. Establish centralized resource of current risk factors vetted by stakeholders 7. Address the need for families to understand risk by increasing access to evidence-based resources 22 Marcus Autism Center is an affiliate of Children’s Healthcare of Atlanta. ©2006 Children’s Healthcare of Atlanta Inc. All rights reserved. 11 Take Home Messages • We can reliably diagnose ASD by age 2 • Both technology-based and clinically-based measures allow us to improve upon detecting risk for ASD in the first year of life • Clinicians need to be well informed about risk potential in order to best inform parents/caregivers about next steps • Early and intensive intervention is associated with optimal outcome • Given the prevalence of ASD, the benefits for intervening prior to full symptom expression may outweigh the consequences of false positives if we have community-viable approaches 23 Marcus Autism Center is an affiliate of Children’s Healthcare of Atlanta. ©2006 Children’s Healthcare of Atlanta Inc. All rights reserved. THANK YOU! Many thanks to my colleagues: Ami Klin, PhD Warren Jones, PhD Gordon Ramsay, PhD Kasia Chawarska, PhD Amy Wetherby, CCC-SLP, PhD Paul Root Wolpe, PhD Many thanks to our funding agencies: NIH, Simons Foundation, Marcus Foundation, Autism Speaks Many thanks to the children and families for their contribution and dedication to our research! 24 Marcus Autism Center is an affiliate of Children’s Healthcare of Atlanta. ©2006 Children’s Healthcare of Atlanta Inc. All rights reserved. 12
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