It has come to the attention of the PMSF Medical Advisory Committee (MAC) that many individuals with Phelan-McDermid syndrome have significant difficulty tolerating commonly used psychiatric medications for behavioral symptoms, mood and anxiety disorders, and sleep disturbance.
It has come to the attention of the PMSF Medical Advisory Committee (MAC) that, in rare cases, some individuals with Phelan-McDermid syndrome are also at risk for metachromatic leukodystrophy (MLD) caused by variants in the arylsulfatase A (ARSA) gene and megalencephalic leukoencephalopathy with subcortical cysts (MLC) caused by variants in the MLC1 gene. For this reason, we wanted to provide the following guidance.
It has come to the attention of the PMSF Medical Advisory Committee (MAC) that some individuals with Phelan-McDermid syndrome have challenges sustaining funding for behavioral therapy and related services if children are deemed to not be making adequate gains. For this reason, we wanted to provide the following guidance, which we hope will inform discussions of appropriate interventions.
Clinical trials are conducted to collect data to evaluate the safety and benefit (efficacy) of a new drug in development, typically…
PMSF initiated the Phelan-McPosium to bring families affected by PMS, clinicians, and researchers together to design patient-centered rigorous clinical and translational…
In 2018, families, researchers, clinicians, and individuals with PMS gathered for a 4-day conference in Dallas, TX. It was HOT, the…
Presentation slides from the 2017 PMSF Stanford Mini-symopsium
The Clinical Care Guidelines infographic is a tool that can be used by patients to begin discussions with their own clinician. Please note that all cases of PMS are different and your doctor/clinician is the best resource to help you make clinical care decisions for your loved one.
The Clinical Care Guidelines infographic is a tool that can be used by patients to begin discussions with their own clinician. Please note that all cases of PMS are different and your doctor/clinician is the best resource to help you make clinical care decisions for your loved one.
Terms that may be related to Phelan-McDermid syndrome
