The genetic orchestra of autism and its intersections with epilepsy, intellectual disability, and ADHD

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Korkmaz, S., De Sainte Agathe, J. M., Cliquet, F., Martin, L. C., Barthome, E., Fleury, M., Segers, J., Bonnot-Briey, S., Grimaldi de Puget, V., Zhou, Y., Wolke, D., Grove, J., Børglum, A. D., Delorme, R., Leblond, C. S., & Bourgeron, T. (2026). The genetic orchestra of autism and its intersections with epilepsy, intellectual disability, and ADHD. Biological Psychiatry. https://doi.org/10.1016/j.biopsych.2026.10.003

Publication date: 1 Oct 2026 Added to AutiHub: 13 Oct 2026 Type: Article Article language: English
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Authors

Publication authors
16
Publication authors identified as autistic
1 / 16 (6.2%)
  1. Sélin Korkmaz
  2. Jean-Madeleine De Sainte Agathe
  3. Freddy Cliquet
  4. L. Caitlin Martin
  5. Eli Barthome
  6. Mathis Fleury
  1. Julie Segers
  2. Stéf Bonnot-Briey *
  3. Vincent Grimaldi de Puget
  4. Yanlin Zhou
  5. Dieter Wolke
  6. Jakob Grove
  1. Anders D. Børglum
  2. Richard Delorme
  3. Claire S. Leblond
  4. Thomas Bourgeron

Abstract

Autism is a complex condition with marked phenotypic variability and a multifactorial etiology orchestrated by diverse genetic and environmental influences. In this review, we dissect what we refer to as autism's "genetic orchestra", spanning from the high-impact "soloists", de novo and ultra-rare variants with large effect sizes, to the "polyphonic background" of common variants which individually exert modest effects but collectively have significant impact. We examine how this orchestra wires neural circuits, with convergent biological pathways modulating synaptic function and chromatin remodeling. Although de novo, rare, and common variants are often studied independently, converging evidence supports a model whereby their influences are largely additive. This genetic orchestra is not condition-specific; autism frequently co-occurs with other neurodevelopmental and psychiatric conditions, reflecting substantial pleiotropy across both rare and common variant landscapes. Notably, ultra-rare variants tend to associate with co-occurring intellectual disability, ADHD, epilepsy, and psychiatric conditions highlighting their high phenotypic impact. Beyond genetics, layers of environmental and contextual factors further modulate clinical outcomes. In this framework, we also discuss the challenges of identifying genetic variants associated with autism through clinical genetic testing, where yields remain context-dependent, varying by sex and co-occurring conditions. Finally, we address current limitations and future directions in refining our understanding of autism's genetic basis.

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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: 18 Oct 2026 01:33.

Cited references
147
With a DOI
144
Without a DOI, from raw bibliography text
3
7 / 147 (4.8%) cited references include at least one author identified as autistic.
References with data to complete
0 / 147 (0.0%)
References with detected author names
147 / 147 (100.0%)
Without detected author names
0
Without a structured title
0
Without a stable identifier
3
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
4416
From DOI or external metadata
4416
From validated raw bibliography text
0
Raw names already validated
0
Raw names still to review
0
558 / 4416 (12.6%) names are linked to an author already present in AutiHub. 3858 / 4416 (87.4%) names are not yet linked.
Names linked to a person identified as autistic
8 / 4416 (0.2%)
Calculated across all author names detected in the cited bibliography. Among names linked to an author already present in AutiHub: 8 / 558 (1.4%). Distinct people identified as autistic: 5 / 3519 (0.1%).
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