Defining the Brain Phenotype of Children With 7q11.23 Copy Number Variation, Including Williams Syndrome and 7q11.23 Duplication Syndrome

What this Trial Is About

Researchers are investigating how the brain develops during childhood and adolescence, focusing on children with 7q11.23 genetic variations such as Williams syndrome and 7q11.23 duplication syndrome, as well as healthy children. The study aims to understand how these genetic differences affect brain structure and function over time, using magnetic resonance imaging (MRI) to track changes and link brain features to genetic factors. This work builds on previous research in adults and seeks to learn about brain development from childhood through adulthood. Participants include children and adolescents aged 5 to 17 years with Williams syndrome, 7q11.23 duplication syndrome, other related genetic variations, and typically developing children. The study involves extensive MRI scanning totaling about 10 hours over 4 to 5 days within a month, including tasks performed inside the scanner. Additional assessments include genetic blood tests for parents, neuropsychological tests, and behavioral evaluations. Participants are invited to return every two years until age 18 for follow-up imaging and assessments. During the study, children will undergo physical exams and tests of memory, attention, and thinking skills. Parents will provide information about their child's behavior and social skills. The main measurements include MRI-based brain structure and function evaluations, such as brain tissue volume and blood flow, alongside cognitive and emotional processing assessments. The research will track brain changes longitudinally, with repeat studies every two years, continuing after participants turn 18 to understand brain development into adulthood.

Defining the Brain Phenotype of Children With Williams Syndrome