L'orchestre génétique de l'autisme et ses intersections avec l'épilepsie, la déficience intellectuelle et le TDAH

Titre original en anglais : The genetic orchestra of autism and its intersections with epilepsy, intellectual disability, and ADHD

Cette publication est incluse dans le projet « Contributions académiques de personnes autistes sur l’autisme ». un auteur·ice de cette publication est identifié·e comme autiste dans le projet.

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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

Date de publication: 01/10/2026 Ajout dans AutiHub: 13/10/2026 Type: Article Langue de l’article: Anglais
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Auteurs

Auteur·ices des publications
16
Auteur·ices de la publication identifié·es comme autistes
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

Résumé

L'autisme est une condition complexe caractérisée par une variabilité phénotypique marquée et une étiologie multifactorielle orchestrée par diverses influences génétiques et environnementales. Dans cette revue, nous analysons ce que nous appelons « l'orchestre génétique » de l'autisme, allant des « solistes » à fort impact, des variants de novo et ultra-rares ayant des tailles d'effet importantes, au « fond polyphonique » de variants communs qui exercent individuellement des effets modestes mais ont collectivement un impact significatif. Nous examinons comment cet orchestre câble les circuits neuronaux, avec des voies biologiques convergentes modulant la fonction synaptique et le remodelage de la chromatine. Bien que les variants de novo, rares et communs soient souvent étudiés indépendamment, des données convergentes étayent un modèle selon lequel leurs influences sont largement additives. Cet orchestre génétique n'est pas spécifique à une condition ; l'autisme coexiste fréquemment avec d'autres conditions neurodéveloppementales et psychiatriques, reflétant une pléiotropie substantielle dans les paysages des variants rares comme communs. Il convient de noter que les variants ultra-rares tendent à être associés à une déficience intellectuelle, au TDAH, à l'épilepsie et à des conditions psychiatriques coexistants, ce qui met en évidence leur fort impact phénotypique. Au-delà de la génétique, des niveaux de facteurs environnementaux et contextuels modulent davantage les résultats cliniques. Dans ce cadre, nous discutons également des défis liés à l'identification de variants génétiques associés à l'autisme au moyen de tests génétiques cliniques, dont les rendements restent dépendants du contexte et varient selon le sexe et les conditions coexistantes. Enfin, nous abordons les limites actuelles et les orientations futures visant à affiner notre compréhension de la base génétique de l'autisme.

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.

Bibliographie citée par cette référence

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Références citées
147
Avec un DOI
144
Sans DOI, à partir du texte brut de la bibliographie
3
7 / 147 (4,8 %) références citées comprennent au moins une personne identifiée comme autiste.
Références avec données à compléter
0 / 147 (0,0 %)
Références avec noms d’auteurices détectés
147 / 147 (100,0 %)
Sans nom d’auteurice détecté
0
Sans titre structuré
0
Sans identifiant stable
3
Références avec noms bruts d’auteurices restant à vérifier
0
Références avec problème de récupération des métadonnées externes
0
Ces indicateurs portent sur les références citées affichées sur cette page, après fusion des doublons techniques. Une référence sans DOI peut quand même soutenir les statistiques d’auteurices lorsqu’un titre et des noms d’auteurices sont disponibles.
Noms d’auteurices détectés dans la bibliographie citée
4416
À partir du DOI ou de métadonnées externes
4416
À partir du texte brut validé de la bibliographie
0
Noms bruts déjà validés
0
Noms bruts restant à vérifier
0
558 / 4416 (12,6 %) noms sont associés à un·e auteurice déjà présent·e dans AutiHub. 3858 / 4416 (87,4 %) noms ne sont pas encore associés.
Noms associés à une personne identifiée comme autiste
8 / 4416 (0,2 %)
Calculé sur l’ensemble des noms d’auteurices détectés dans la bibliographie citée. Parmi les noms associés à un·e auteurice déjà présent·e dans AutiHub : 8 / 558 (1,4 %). Personnes distinctes identifiées comme autistes : 5 / 3519 (0,1 %).
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