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. 2023 Mar;130(3):459-471.
doi: 10.1007/s00702-022-02569-3. Epub 2022 Nov 27.

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

Pauline Burger  1   2   3   4 , Florent Colin  5   6   7   8   9 , Axelle Strehle  5   6   7   8 , Timothée Mazzucotelli  5   6   7   8 , Nicole Collot  5   6   7   8 , Romain Coutelle  10   11 , Benjamin Durand  12 , Arianne Bouman  13 , Daphna Landau Prat  14   15   16 , Tjitske Kleefstra  13   17 , Pierre Parrend  18   19 , Amélie Piton  5   6   7   8   20   21 , David A Koolen  13 , Jean-Louis Mandel  5   6   7   8   22
Affiliations

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

Pauline Burger et al. J Neural Transm (Vienna). 2023 Mar.

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. GenIDA is an international online participatory database that aims to better characterise the clinical manifestations and natural histories of these rare diseases. Clinical information is reported by parents of affected individuals using a structured questionnaire exploring physical parameters, cognitive and behavioural aspects, the presence or absence of neurological disorders or problems affecting major physiological functions, as well as autonomy and quality of life. This strengthens the implication in research of the concerned families. GenIDA aims to construct international cohorts of significant size of individuals affected by a given condition. As of July 2022, GenIDA counts some 1545 documented patient records from over 60 nationalities and collaborates with clinicians and researchers around the world who have access to the anonymized data collected to generate new, medically meaningful information to improve patient care. We present the GenIDA database here, together with an overview of the possibilities it offers to affected individuals, their families, and professionals in charge of the management of genetic forms of neurodevelopmental disorders. Finally, case studies of cohorts will illustrate the usefulness of GenIDA.

Keywords: Cohorts; Comorbidities; Intellectual disability; Participative study; Rare diseases.

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Conflict of interest statement

The authors have no relevant financial or non-financial interests to disclose.

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