Study to Understand Williams Syndrome and Related 7q11.23 Chromosome Variants Including Health, Development, and Behavior Across All Ages

What this Trial Is About

Researchers are studying individuals diagnosed with Williams syndrome WS or carrying other variants of the 7q11.23 chromosome region to better understand their development, health, behavior, and transition to adulthood. This observational natural history study also aims to build a DNA and tissue biobank with samples from affected individuals. It includes multiple study arms that focus on genetic factors, development, health outcomes, sleep, and caregiver stress related to WS and related conditions. Participants may take part in one or several parts of the study. These include genetic and phenotype analysis with blood or saliva samples, a biobank for future research tools, developmental assessments of language and cognitive skills, a transition to adulthood program for ages 14 to 25 with in-person visits, a study of physical and mental health outcomes in adults, and investigation of sleep difficulties and daily activity in WS. Each arm has specific participation requirements and goals. Participants and their families will provide biological samples and medical records for review. They will complete assessments of medical, behavioral, and quality of life factors over an average of five years. The study also evaluates caregiver stress and resilience. Participants can expect questionnaires, clinical record reviews, and possible in-person visits depending on the arm. The research aims to improve knowledge of WS and related conditions through comprehensive long-term observation and sample collection.

Characterization and Natural History of Williams Syndrome and Other Chromosome 7q11.23 Variants