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.
For those whose movements remain troublesome, caregivers will be asked to submit 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.
Following are the eligibility requirements:
- Molecularly confirmed diagnosis of AS.
- History of abnormal movements or continued abnormal 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.
Click to begin enrollment in the study.
Any questions can be directed to Dr. Robert Carson – email@example.com.