Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder affecting approximately 1% of the population, characterized by difficulties with social interaction and communication. Studies have identified more than 200 genes linked to ASD, particularly those involved in chromatin remodeling and synaptic neuronal connectivity (CHD8, SCN2A, NLGN3-4X, SHANK1-3). The goal of the project is to decipher the biological mechanisms underlying ASD in order to develop therapeutic strategies, using innovative preclinical models such as organoids.
Each participant's involvement in this study is limited to one visit. This study requires only a blood draw (5 to 30 minutes), which will be performed at the CIC at Robert-Debré, and the completion of questionnaires for parents (SRS) and unaffected siblings (SRS, ADHD-RS, SDQ). Additional tests or questionnaires may be offered at a later stage if clinically necessary.
Study Type
OBSERVATIONAL
Enrollment
80
Robert Debré Hospital
Paris, France
Production of organoïds
To study the cellular mechanisms affected by the presence of the abnormalities identified in the participant with ASD
Time frame: 2 years
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