Study of Social and Developmental Features in Patients with 7q11.23 Microduplication Syndrome Tracking Socialization Challenges from Childhood to Adulthood

What this Trial Is About

7q11.23 duplication syndrome 7DUP is a genetic condition caused by a microduplication of a chromosome region, affecting 26-28 genes including GTF2I. It leads to various neurodevelopmental challenges such as autism spectrum disorders, selective mutism, mild facial features, and heart issues with aortic dilation. A core problem in 7DUP is difficulty with socialization, which varies widely among affected individuals. This syndrome shows the opposite gene expression pattern compared to Williams-Beuren syndrome, with GTF2I gene overexpressed in 7DUP. This research studies patients aged 5 to 50 years with confirmed 7DUP to understand how socialization impairments develop over time, from childhood to adulthood. Participants undergo extensive clinical assessments including developmental history, epilepsy status, motor and cognitive tests, social evaluations, and optional brain MRI scans. The study uses a single group design to track developmental changes and assess socialization using tools like the ADOS scale. Participants complete a detailed inclusion visit with medical, cognitive, motor, and social assessments, including questionnaires for parents and reasoning tasks with tablets. Researchers measure skill development, social abilities, autism spectrum disorder characteristics, intelligence quotients, and activity patterns. This study aims to define the natural course of social impairments in 7DUP, helping design future treatments and outcome measures. The total participation involves one comprehensive visit at inclusion.

Characterization of the Natural History of Microduplication Syndrome 7q11.23