Bringing everyone to the table - findings from the 2018 Phelan-McDermid Syndrome Foundation International Conference.

ABSTRACT:

Background

Phelan-McDermid Syndrome (PMS) is a rare neurodevelopmental disorder characterized by global developmental delay, autism spectrum disorder, and numerous systemic complications including seizures, gastrointestinal dysfunction, and renal anomalies. The Phelan-McDermid Syndrome Foundation (PMSF) was created to improve the quality of life of people affected by PMS worldwide by supporting families, accelerating research, and raising awareness. To further this mission, the PMSF initiated the Phelan-McPosium in 2016 to bring families affected by PMS, clinicians, and researchers together to design patient-centered rigorous clinical and translational research. Here, we present findings from the 2018 Phelan-McPosium.

Results

The 2018 Phelan-McPosium was attended by 183 fami

SUBMITTER: Goodspeed K 

PROVIDER: S-EPMC7298935 | biostudies-literature | 2020 Jun

REPOSITORIES: biostudies-literature