Tjitske Kleefstra

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

By Florent Colin, Pauline Burger, Timothée Mazzucotelli, Axelle Strehle, Joost Kummeling, Nicole Collot, Elyette Broly, Angela Morgan, Kenneth Myers, Agnès Bloch-Zupan, Charlotte Ockeloen, Bert de Vries, Tjitske Kleefstra, David Koolen, Pierre Parrend, Jean-Louis Mandel

2023-05-01

In Genetics in Medicine Open

Abstract

GenIDA: An international participatory database to gain knowledge on health issues related to genetic forms of neurodevelopmental disorders

By Pauline Burger, Florent Colin, Romain Coutelle, Axelle Strehle, Timothée Mazzucotelli, Nicole Collot, Benjamin Durand, Arianne Bouman, Daphna Landau Prat, Tjitske Kleefstra, Pierre Parrend, Amélie Piton, David Koolen, Jean-Louis Mandel

2022-11-01

In Journal of Neural Transmission

Abstract Intellectual disability with or without manifestations of autism and/or epilepsy affects 1-2% of the population, and it is estimated that more than 30-50% of these cases have a single genetic cause. More than 1000 genes and recurrent chromosomal abnormalities are involved in these genetic forms of neurodevelopmental disorders, which often remain insufficiently described in terms of clinical spectrum, associated medical problems, etc., due to their rarity and the often-limited number of patients’ phenotypes reported.