Phelan-McDermid Syndrome (PMS) is a rare genetic condition that causes developmental disability, autism, hypotonia, and, often, complex medical and psychiatric conditions that are not well understood. Our workshop will bring together researchers and families of people with PMS to discuss topics of interest. Each topic will include an introductory talk by an expert in the field followed by a parent roundtable discussion and real-time polling paired with webcasting and a panel discussion about future projects. Workshop findings will be summarized in a white paper, which will be made available through www.pmsf.org. Our goals are to communicate family concerns and priorities to the medical and scientific community to inform the design and conduct of future research, and to improve the flow of information to help families make appropriate medical, behavioral, and educational decisions together with their children’s medical professionals.
The projected outputs from this project are a workshop to collect and share information with families.
Project collaborators include researchers serving as speakers/panelists; and IT consultants.