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Quels traitements pour la trisomie 21 ?

  • Chapter
42es Journées nationales de la Société Française de Médecine Périnatale (Montpellier 17–19 octobre 2012)

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Résumé

La trisomie 21 reste la cause identifiée la plus fréquente de déficience intellectuelle. Le mécanisme de l’atteinte cognitive est très certainement polygénique, la surexpression de quelques gènes localisés sur le chromosome 21 perturbant quelques voies biologiques importantes dans le développement et le fonctionnement cérébral. Actuellement, aucun traitement pharmacologique n’a montré d’amélioration des capacités cognitives chez ces personnes (vitamines, oligo-éléments, hormones). En revanche, un accompagnement éducatif et rééducatif commencé dès le plus jeune age permet un meilleur accomplissement et associé à un suivi médical spécifique doit permettre le plus souvent une intégration sociale et professionnelle en milieu ordinaire. Nos connaissances sur les gènes du chromosome 21 et la neurobiologie, aidées par l’étude de plusieurs modèles de souris trisomiques 21 partielles, ouvrent de nouvelles pistes thérapeutiques basées maintenant sur des rationnels. Deux pistes surtout : d’une part, l’inhibition de l’activité de DYRK1A par l’EGCG et, d’autre part, la régulation de l’excès d’inhibition en particulier hippocampique, par des agonistes inverses du récepteur alpha 5 du GABA-A. Des essais cliniques sont maintenant en cours.

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Authors and Affiliations

  1. Service de génétique, Centre de référence des anomalies du développement, CHU de Saint-étienne, France

    R. Touraine & B. de Fréminville

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  1. R. Touraine
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Touraine, R., de Fréminville, B. (2013). Quels traitements pour la trisomie 21 ?. In: 42es Journées nationales de la Société Française de Médecine Périnatale (Montpellier 17–19 octobre 2012). Springer, Paris. https://doi.org/10.1007/978-2-8178-0385-2_9

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  • DOI: https://doi.org/10.1007/978-2-8178-0385-2_9

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