Display options
Share it on

Pediatrics. 2021 May;147(5). doi: 10.1542/peds.2020-032250. Epub 2021 Apr 14.

Presymptomatic Detection and Intervention for Autism Spectrum Disorder.

Pediatrics

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

Affiliations

  1. Departments of Speech and Hearing Sciences and [email protected].
  2. Treuman Katz Center for Pediatric Bioethics, Seattle Children's Research Institute, Seattle, Washington.
  3. Departments of Speech and Hearing Sciences and.
  4. Research Triangle Institute International, Research Triangle Park, North Carolina.
  5. Carolina Institute for Developmental Disabilities, University of North Carolina Chapel Hill, Chapel Hill, North Carolina.
  6. School of Medicine, Washington University, St Louis, Missouri; and.
  7. Department of Educational Psychology, University of Minnesota, Minneapolis, Minnesota.
  8. Pediatrics, University of Washington, Seattle, Washington.

PMID: 33853890 PMCID: PMC8085996 DOI: 10.1542/peds.2020-032250

Abstract

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.

Copyright © 2021 by the American Academy of Pediatrics.

Conflict of interest statement

POTENTIAL CONFLICT OF INTEREST: The authors have indicated they have no potential conflicts of interest to disclose.

References

  1. J Am Acad Child Adolesc Psychiatry. 2017 Sep;56(9):777-783 - PubMed
  2. JAMA. 2000 May 24-31;283(20):2701-11 - PubMed
  3. JAMA Pediatr. 2019 Feb 1;173(2):153-159 - PubMed
  4. Genet Med. 2012 Jan;14(1):115-21 - PubMed
  5. J Autism Dev Disord. 2016 Jul;46(7):2441-9 - PubMed
  6. Pediatrics. 2020 Aug;146(2): - PubMed
  7. Am J Ment Retard. 1997 Nov;102(3):238-49 - PubMed
  8. PLoS One. 2017 Nov 28;12(11):e0188446 - PubMed
  9. J Neurodev Disord. 2015;7(1):24 - PubMed
  10. JAMA Psychiatry. 2019 Oct 1;76(10):1092-1093 - PubMed
  11. J Consult Clin Psychol. 1987 Feb;55(1):3-9 - PubMed
  12. Autism Res. 2017 Jan;10(1):169-178 - PubMed
  13. J Autism Dev Disord. 2014 Dec;44(12):2981-95 - PubMed
  14. Pediatrics. 2010 Jan;125(1):e17-23 - PubMed
  15. J Autism Dev Disord. 2015 May;45(5):1354-67 - PubMed
  16. Autism. 2014 Nov;18(8):1007-13 - PubMed
  17. Nature. 2017 Feb 15;542(7641):348-351 - PubMed
  18. J Child Adolesc Psychiatr Nurs. 2016 Aug;29(3):127-34 - PubMed
  19. Sci Transl Med. 2017 Jun 7;9(393): - PubMed
  20. J Child Psychol Psychiatry. 2017 Dec;58(12):1330-1340 - PubMed
  21. Pediatrics. 2019 Oct;144(4): - PubMed
  22. Pediatrics. 2020 Sep;146(3): - PubMed
  23. Mol Autism. 2018 Jul 31;9:42 - PubMed
  24. Pediatrics. 2007 Nov;120(5):1183-215 - PubMed
  25. MMWR Surveill Summ. 2020 Mar 27;69(4):1-12 - PubMed
  26. Autism. 2020 Oct;24(7):1874-1884 - PubMed
  27. J Infect Dis. 2004 Mar 1;189(5):930-7 - PubMed
  28. J Pediatr Psychol. 2020 Mar 1;45(2):121-130 - PubMed
  29. J Autism Dev Disord. 2018 Feb;48(2):473-484 - PubMed
  30. Nat Commun. 2019 Sep 13;10(1):4188 - PubMed

MeSH terms

Publication Types

Grant support