Genetic of Intellectual Deficiency and Autism Spectrum Disorders (RaDiCo-GenIDA)

Condition(s) studied

Study summary

The aim of this observational study is to develop an alternative database model for genetically originated intellectual disabilities. This model will take the form of an online cohort study, where the majority of clinical information will be provided by the families of the patients. Questionnaires developed by professionals but formulated in a way understandable to families will be used to gather this information.

Specifically, this study aims to collect relevant information for personalized medical management. This includes understanding the risks of specific pathological complications and potential iatrogenic effects of symptomatic treatments. The primary goal is to establish groups of individuals with intellectual disabilities and/or autism spectrum disorders (ASD) sharing the same genetic mutation. This approach will provide a better understanding of the natural history of the disease and associated comorbidities.

It is important to note that this project will only focus on patients for whom the identification of the causal mutation or penetrant copy number variation (CNV) has been determined. It excludes individuals for whom the cause of intellectual disability is unknown.

This approach will contribute to a better understanding of the genetic aspects of intellectual disabilities and ASD, while facilitating more targeted and personalized medical care for the affected patients.

Eligibility

Primary outcome measure(s)

• Description of the clinical and "para-clinical" characteristics of the disease over time in adult and pediatric patients, depending on the type of genetic anomaly associated with the disease. — Day 1, Every 6 months over 5 years

Trial sites (1)

More Institut National de la Santé Et de la Recherche Médicale, France trials in France

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