GenIDA, a participatory patient registry for genetic forms of intellectual disability provides detailed caregiver-reported information on 237 individuals with Koolen-de Vries syndrome.

Date publication

mai 2023

Journal

Genetics in medicine open

Auteurs

Membres identifiés du Cancéropôle Est :
Pr MANDEL Jean-Louis

Tous les auteurs :
Colin F, Burger P, Mazzucotelli T, Strehle A, Kummeling J, Collot N, Broly E, Morgan AT, Myers KA, Bloch-Zupan A, Ockeloen CW, de Vries BBA, Kleefstra T, Parrend P, Koolen DA, Mandel JL

Lien Pubmed

https://www.ncbi.nlm.nih.gov/pubmed/39669247

Résumé

GenIDA is an international patient registry for individuals diagnosed with intellectual disability, autism spectrum disorder, and/or epilepsy, which is based on an online questionnaire that is completed by parent caregivers. In this study, the GenIDA data on Koolen-de Vries syndrome (KdVS) was analyzed illustrating the value of GenIDA and patient/caregiver participation in rare genetic neurodevelopmental disorders (NDDs).

Mots clés

GenIDA, Intellectual disability, Koolen-de Vries syndrome, Neurodevelopmental disorders, Patient registry

Référence

Genet Med Open. 2023 05 18;1(1):100817