Presymptomatic detection and intervention for autism spectrum disorder

Katherine E. MacDuffie, Annette M. Estes, Lucas T. Harrington, Holly L. Peay, Joseph Piven, John R. Pruett, Jason J. Wolff, Benjamin S. Wilfond

Research output: Contribution to journalArticlepeer-review


Universal screening for autism spectrum disorder (ASD) is recommended during pediatric primary care visits in the first 2 years of life. However, many children are missed by initial screening and not diagnosed with ASD until years later. Research efforts are underway to develop and evaluate new objective measures of risk for ASD that can be used in infancy, before symptoms emerge. Initial studies with these tests, particularly MRI-based screening for infants at high familial risk, have shown promise but have not yet been evaluated in clinical trials. We present the study design for a hypothetical clinical trial that would combine presymptomatic detection and intervention for ASD and consider, through commentaries from diverse perspectives, the ethical issues that should be anticipated in advance of beginning such trials. Commentators Drs Pruett and Piven address the social value of the proposed research and importance of researcher-bioethicist collaborations. Drs Estes and Wolff discuss the clinical potential and challenges of developing presymptomatic interventions for infants at risk for ASD. Dr Harrington takes a neurodiversity view of presymptomatic prediction and intervention and their implications for autistic identity and quality of life. Finally, Drs MacDuffie, Peay and Wilfond consider the potential risks and benefits that must be evaluated and weighed in the next phases of research on presymptomatic detection and intervention for ASD.

Original languageEnglish (US)
Article numbere2020032250
Issue number5
StatePublished - May 1 2021

Bibliographical note

Funding Information:
FUNDING: Supported by National Institute of Mental Health grant F32MH118689 (to Dr MacDuffie) and National Institute of Mental Health grant R01 MH118362 (to Drs Pruett and Piven). Funded by the National Institutes of Health (NIH) To cite: MacDuffie KE, Estes AM, Harrington LT, et al. Presymptomatic Detection and Intervention for Autism Spectrum Disorder. Pediatrics. 2021; 147(5):e2020032250

Publisher Copyright:
© 2021 by the American Academy of Pediatrics.

PubMed: MeSH publication types

  • Journal Article
  • Research Support, N.I.H., Extramural


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