2022 Upper Midwest Rare Epilepsies Conference
Rare Epilepsies: Getting the Best Care for Everyone Jacqueline French, MD, Chief Medical and Innovation Officer, Epilepsy Foundation; Epileptologist, NYU Langone…
CANDID Video Resources
CANDID , Consortium for Autism, Neurodevelopmental Disorders & Digestive Diseases, was a collaboration between patient advocacy groups, scientists, clinicians, and research organizations that is focused on…
Clinical Research Decision Tool
Use this chart to help you make an informed decision when considering participation in a clinical trial.
EPILEPSY TOOLKIT
Developmental and Epileptic Encephalopathy (DEE) We know a new diagnosis of seizures and epilepsy can feel overwhelming, even more so if…
Medical Advisory – Reaction to Psychiatric Medications
It has come to the attention of the PMS Medical Advisory Committee that many individuals with PMS have significant difficulty tolerating…
Medical Advisory – Very Rare Leukodystrophy
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.
Medical Advisory – Behavior Therapy
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.
Medical Advisory – Anesthesia
It has come to the attention of the PMS Medical Advisory Committee that some individuals with PMS experience significant adverse reaction to anesthesia in the context of medical procedures (e.g., dental; imaging).
Research Roundup August 2021
Do you wonder how a research publication affects your loved one or the field of Phelan-McDermid research? The Research Roundup is…
Bringing Everyone to the Table in 2018
PMSF initiated the Phelan-McPosium to bring families affected by PMS, clinicians, and researchers together to design patient-centered rigorous clinical and translational…