Movement Disorder Analysis in Angelman Syndrome
Movement disorders significantly impact the daily lives of individuals with Angelman syndrome, including dystonia, tremors, stereotypies, and other poorly understood or unclassified movements. These disorders interfere with regular activities and require better characterization and classification to develop effective treatments.
To address this critical need, four of our leading clinicians—Elizabeth Berry-Kravis, MD, PhD (Rush Univ Medical Center, Chicago), Wen-Hann Tan, MD (Boston Children’s Hospital, Boston), Robert Carson, MD, PhD (Vanderbilt University Medical Center, Nashville) and Jean-Baptiste Le Pichon, MD, PhD, FAAP (Children’s Mercy Kansas City)—will be leading this groundbreaking work.
This project builds on the groundbreaking work previously supported by ASF, continuing to advance our understanding of movement disorders in Angelman syndrome. Through a multi-site study involving 120 individuals across four leading medical centers, researchers aim to establish a comprehensive understanding of these movement challenges. By creating a video library reviewed by movement disorder experts and testing wearable devices to monitor movements in real time, the study will provide essential tools for diagnosing and tracking these disorders.
The findings from this research will enhance clinical care, inform therapeutic development, and offer new ways to measure the effectiveness of emerging treatments—ultimately improving the quality of life for individuals with Angelman syndrome.
This project is jointly funded by the Angelman Syndrome Foundation and the Pritzker Family.