Podcast: Play in new window | Download
Subscribe: RSS
Last weekend, the Phelan McDermid Research Foundation held their biannual family conference in Dallas Texas. People with Phelan McDermid Syndrome, or PMS, suffer from seizures and intellectual disability, and about 70% have an ASD diagnosis, Over 150 families from across the world came together to show each other support, learn about housing options, receive genetic counseling, talk to experts and hear the latest research. ASF attended the meeting and this podcast is a short summary of what was presented by researchers at the conference. This syndrome is caused by mutations of the SHANK3 gene, which is present in about 1% of people with autism, making it the most common single genetic influence of ASD. Even if you don’t have a mutation in SHANK3, many of the issues affecting those with PMS may apply to you. To learn more about the conference, click here: https://www.pmsf.org/ifc/