Ajouté le 30/11/2024
Article de revue du type Revue de la littérature ( ; anglais)
*Un.e co-auteur·rice s'est publiquement identifié·e comme autiste. [En savoir plus sur cette mention]
L'autisme représente un large spectre d'individus divers avec des architectures génétiques sous-jacentes et des besoins variés. Pour certains individus, une seule variante génétique de novo ou ultrarare a un effet important sur l'intensité de certaines dimensions du phénotype, tandis que pour d'autres, une combinaison de milliers de variantes communément trouvées dans la population générale est impliquée. Les variantes ayant un impact majeur sont retrouvées chez jusqu'à 30 % des individus autistes présentant une déficience intellectuelle, un retard significatif de la parole, un retard moteur et/ou des crises d'épilepsie. Les variantes communes sont partagées avec celles trouvées chez des individus ayant un trouble du déficit de l'attention avec ou sans hyperactivité, des troubles dépressifs majeurs, une plus grande réussite éducative et des performances cognitives plus élevées, ce qui suggère des architectures génétiques qui se chevauchent. Les variantes génétiques modulent la fonction du remodelage de la chromatine et des protéines synaptiques qui influencent la connectivité des circuits neuronaux et, en interaction avec l'environnement de chaque individu, la trajectoire cognitive et personnelle ultérieure de l'enfant. Dans l'ensemble, cette hétérogénéité génétique reflète la diversité phénotypique des individus autistes et constitue un pont utile entre les perspectives biomédicales et neurodiverses. Nous proposons que la recherche participative et multidisciplinaire utilise ces informations pour mieux comprendre l'évaluation, les traitements et les aménagements dont les individus autistes et leurs familles ont besoin.
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(1) Les références en bleu sont des ressources référencées sur notre site.
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(3) Les auteur·rices dont le nom est suivi d'une astérisque ont publiquement divulgué être autistes.
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