phelan-mcdermid syndrome – Phelan-McDermid Syndrome Foundation

Caregiver Support Group of Phelan-McDermid syndrome individuals from birth to age 18

The Support Group for the Phelan-McDermid Syndrome Caregiver is an open group for all parents, guardians, and primary caregivers of Phelan-McDermid syndrome…

Newly Diagnosed Caregiver Support Group

The months following a Phelan-McDermid syndrome diagnosis can be very difficult for parents and caregivers. The “Support Group For the Newly Diagnosed…

Neuropsychiatric Illness Caregiver Support Group

The “Coping With Neuropsychiatric Episodes” Support Group is a closed group for caregivers whose child is going through or has gone through a…

Supporting Bereaved Families: Resources, Connection, & Research

Please join Alex Kolevzon, MD of the Seaver Autism Center for Research and Treatment at Mount Sinai along with PMSF's Chief…

Shop the Official PMSF Store

Looking for Phelan-McDermid Syndrome Foundation apparel? The official PMSF online store makes it easy to show your support, spread awareness, and stay connected to the Phelan-McDermid syndrome community

Uncovering New Genotype-Phenotype Relationships in Phelan-McDermid Syndrome

Phelan-McDermid syndrome is a rare genetic condition usually caused by a deletion or structural change at the end of chromosome 22, in a region called 22q13. Symptoms and severity can vary widely among people with Phelan-McDermid syndrome. For individuals with a chromosome 22 deletion, the size of the deletion may help explain some of these clinical differences. In general, larger 22q13 deletions are associated with more significant developmental delays and medical concerns. A recent study in 63 people with Phelan-McDermid syndrome further explored these genotype-phenotype relationships, helping researchers better understand how chromosome 22 deletion size may influence symptoms such as language development, motor function and development, and social behaviors as well as medical issues. This study also identified several candidate genes that could also be contributing to the symptoms seen in Phelan-McDermid syndrome.

Potential Blood-Based Biomarkers of Phelan-McDermid Syndrome

Researchers at Ulm University in Germany have identified two promising blood-based biomarkers for Phelan-McDermid syndrome, including SHANK3 protein and beta-synuclein. In a pilot study of 23 individuals with Phelan-McDermid syndrome, lower SHANK3 levels and higher beta-synuclein levels were found compared to typically-developing controls. Individuals with Phelan-McDermid syndrome who had a history of regression had lower SHANK3 levels, and those with more significant language impairments had higher beta-synuclein levels. These findings also were observed in a Shank3 mouse model. Together, this suggests SHANK3 and beta-synuclein may be potential blood-based biomarkers in Phelan-McDermid syndrome. Although larger studies are needed to confirm the results, this research marks an important step toward identifying objective biological-based measures that may relate to disease severity and help monitor progression and evaluate treatment effectiveness.