Presymptomatic Detection and Intervention for Autism Spectrum Disorder

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MacDuffie, K. E., Estes, A. M., Harrington, L. T., Peay, H. L., Piven, J., Pruett, J. R., Wolff, J. J., & Wilfond, B. S. (2021). Presymptomatic Detection and Intervention for Autism Spectrum Disorder. Pediatrics, 147(5). https://doi.org/10.1542/peds.2020-032250

Publication date: 14 Apr 2021 Added to AutiHub: 18 Sep 2026 Type: Article Article language: English
Publisher source (DOI) OpenAlex source

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Authors

Publication authors
8
Publication authors identified as autistic
1 / 8 (12.5%)
  1. Katherine E. MacDuffie
  2. Annette M. Estes
  3. Lucas T. Harrington *
  4. Holly L. Peay
  1. Joseph Piven
  2. John R. Pruett
  3. Jason J. Wolff
  4. Benjamin S. Wilfond

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.

Bibliography cited by this reference

Cited references are imported from external metadata sources when they are available. The list may be partial.

Cited bibliography overview

These indicators describe the bibliography cited by this publication. An author name is counted each time it appears in one cited reference, so the same person can be counted more than once. Names not yet linked to an author already present in AutiHub are treated as unknown, not as non-autistic. Last computed: 19 Sep 2026 01:01.

Cited references
43
With a DOI
39
Without a DOI, from raw bibliography text
4
2 / 43 (4.7%) cited references include at least one author identified as autistic.
References with data to complete
1 / 43 (2.3%)
References with detected author names
43 / 43 (100.0%)
Without detected author names
0
Without a structured title
1
Without a stable identifier
4
References with raw author names still to review
0
References with external metadata lookup issues
0
These indicators apply to cited references displayed on this page, after technical duplicates have been merged. A reference without a DOI can still support author statistics when a title and author names are available.
Author names detected in the cited bibliography
366
From DOI or external metadata
366
From validated raw bibliography text
0
Raw names already validated
0
Raw names still to review
0
102 / 366 (27.9%) names are linked to an author already present in AutiHub. 264 / 366 (72.1%) names are not yet linked.
Names linked to a person identified as autistic
2 / 366 (0.5%)
Calculated across all author names detected in the cited bibliography. Among names linked to an author already present in AutiHub: 2 / 102 (2.0%). Distinct people identified as autistic: 2 / 272 (0.7%).
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