Genomic, Transcriptomic, and Regulomic Analyses Do Not Support Profound Autism as a Distinct Biological Category

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Eicher, T., Ne'eman, A., & Quackenbush, J. (2026). Genomic, Transcriptomic, and Regulomic Analyses Do Not Support Profound Autism as a Distinct Biological Category [Preprint]. openRxiv. https://doi.org/10.64898/2026.06.01.729392

Publication date: 4 Jun 2026 Added to AutiHub: 6 Jul 2026 Type: Preprint Article language: English
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Authors

Publication authors
3
Publication authors identified as autistic
1 / 3 (33.3%)
  1. Tara Eicher
  2. Ari Ne'eman *
  3. John Quackenbush

Abstract

The Lancet Commission on the Future of Care and Clinical Research in Autism proposed the construct of “profound autism” as a recognizable subtype of autism. Supporters argue that this classification is necessary to ensure that autistic persons with severe impairment receive appropriate research attention and policy support, whereas critics contend that the construct lacks scientific validity and may reflect social or political considerations more than biological distinction. To inform this debate, we evaluate whether the proposed “profound autism” category represents a distinct genetic phenotype using multiple molecular data types collected in a large cohort. Across genomic, transcriptomic, and regulatory analyses, we find no evidence supporting “profound autism” as a biologically distinct phenotypic group. Instead, differences emerge primarily in inferred gene regulatory networks distinguishing nonspeaking from speaking autistic children, suggesting potential regulatory mechanisms contributing to speech ability. These findings suggest that future research into severe impairment may be more productive if focused on specific traits—such as speech impairment—rather than attempting to define a distinct biological subtype within the multidimensional phenomenon of autism.

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Cited references
72
Total cited references integrated for this publication.
Cited references with an identified autistic author
3 / 72 (4.2%)
Cited author occurrences identified as autistic
32 / 806 (4.0%)
Among occurrences linked to AutiHub author records: 32 / 92 (34.8%). Distinct cited authors identified as autistic: 32 / 745 (4.3%).
Cited author occurrences linked to AutiHub author records
92 / 806 (11.4%)
Distinct linked cited authors: 78 / 745 (10.5%)
Linked cited-author occurrences not identified as autistic
60 / 92 (65.2%)
Among linked cited-author occurrences only. Across all cited-author occurrences: 60 / 806 (7.4%). Distinct linked cited authors not identified as autistic: 46 / 78 (59.0%).
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    Type: Other
    Crossref
  71. HaplotypeCaller (2025).
    Type: Other
    Crossref
  72. Variant Quality Score Recalibration (2024).
    Type: Other
    Crossref