Studying Brain Changes in Children Aged 5 to 17 With Williams Syndrome and 7q11.23 Genetic Variations

What this Trial Is About

Researchers are investigating how the brain develops during childhood and adolescence, focusing on healthy children and those with 7q11.23 genetic variations, including Williams syndrome and 7q11.23 duplication syndrome. This observational study aims to understand the genetic effects on brain development by using magnetic resonance imaging MRI to observe brain changes over time in these groups. Participants will undergo a series of assessments including a physical exam and tests of memory, attention, concentration, and thinking. Parents will provide information about their childs personality, behavior, and social skills. Participants will complete approximately 10 hours of MRI scanning over 4 to 5 days within one month, involving tasks performed during scans. These procedures will be repeated every two years until participants reach 18 years of age. Throughout the study, participants will have regular evaluations including neuropsychological assessments and imaging studies such as structural MRI, functional MRI, and diffusion tensor imaging. Blood samples will be collected for genetic analysis. Researchers will measure brain structure and function changes, focusing on gray and white matter size and integrity, brain activity during tasks, and blood flow. The study is ongoing, with long-term follow-up planned into adulthood to track developmental brain changes.

Defining the Brain Phenotype of Children With Williams Syndrome