A 12-Month Study Tracking Development and Brain Activity in Children and Adults With Angelman Syndrome

What this Trial Is About

Researchers are conducting an observational study to understand how Angelman syndrome AS progresses naturally in children and adults who have a confirmed genetic diagnosis. The study focuses on changes in developmental skills like communication, motor abilities, and adaptive behaviors over one year. It also explores specific brain activity and sleep patterns that may be linked to changes in AS symptoms. This study aims to gather important data that can help improve future clinical trials and develop better diagnostic tools and treatments for AS. Participants will attend up to five visits over 12 months, approximately every three months, where they will undergo various assessments. These include standardized tests and questionnaires about their development, behaviors, and sleep, with caregiver assistance. Participants will have electroencephalograms EEGs to record brain activity and wear a sleep-monitoring device at home to collect actigraphy data. The study includes three cohorts based on age children and adolescents aged 1 to 17, a focused group of children aged 1 to 12, and a small adult group aged 18 and older. Throughout the study, participants will complete developmental and behavioral assessments at baseline and every three months to measure changes in cognitive, communication, motor, and adaptive behavior skills. Researchers will also track common co-occurring conditions such as epilepsy and sleep problems. Data from EEGs, actigraphy, and questionnaires will be analyzed to understand age-related changes and symptom patterns. The total participation time is one year, with regular monitoring and evaluations to capture the natural history of AS.

A Natural History Study of Angelman Syndrome