Movement Disorders in Angelman Syndrome

The goal of this study is to better understand the abnormal movements that are particularly troubling to people with Angelman syndrome, what treatment has worked and what has not worked.

Caregivers will submit a survey and videos to the study team. These videos will be reviewed by a panel of Angelman syndrome, epilepsy, and movement disorders specialists to obtain diverse opinions on how to best describe and classify the movements. This will help providers be consistent with what they call these movements and most importantly, help guide future medication choices.

Participation Requirements

Following are the eligibility requirements:

• Molecularly confirmed diagnosis of AS.
• History of abnormal shaking or jerking movements.
• Willingness to complete a short survey and submit videos of the abnormal movements of concern.

For those who continue to have abnormal movements, caregivers will be asked to allow the study team to use video data for research and education purposes. This includes but is not limited to 1) being reviewed by multiple physicians to help classify movements, 2) being used for educational and training purposes, and 3) inclusion in publications resulting from this work.

Please Note: If you have participated previously and have new information or updates, you are welcome to participate again.

To Participate

Click to begin enrollment in the study.

Questions

Any questions can be directed to Dr. Robert Carson – robert.carson@vumc.org.