The Phelan-McDermid Syndrome (PMS) Medical Advisory Committee would like to inform the patient community and the providers who care for them about two very rare disorders that may occur with PMS, and which are associated with significant developmental regression in early childhood. Developmental regression is known to occur in children and adolescents with PMS.
It has come to the attention of the PMS Medical Advisory Committee that some individuals with PMS 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 that 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
The Clinical Care Guidelines infographic is based on a publication titled “Phelan-McDermid syndrome: a review of the literature and practice parameters for medical assessment and monitoring” Kolevzon et al. Journal of Neurodevelopmental Disorders 2014, Sinai Seaver Autism Center. This 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.
