Megan O'Boyle discusses diagnosis of Phelan-McDermid Syndrome
Автор: Rare Disease Report
Загружено: 2012-10-24
Просмотров: 2950
Описание:
Megan O'Boyle, chair of the Registry and Repository Committee and board member of the Phelan-McDermid Syndrome Foundation is a strong and vocal advocate for her daughter, Shannon, age 12.
Phelan-McDermid Syndrome (PMS) is a genetic syndrome caused by disruption of the SHANK3/ProSAP2 gene on the terminal end of chromosome 22. There is a wide range of symptoms and severity of symptoms observed in people with Phelan-McDermid Syndrome.
As discussed by Megan in this video, some of the symptoms Shannon has are similar to those found in autism. For that reason, it is hopeful that research into Phelan-McDermid Syndrome will not only help children like Shannon but may also lead to better ways to treat autism.
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