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…
How to Read Your Genetic Report
Reading and understanding your genetic report is like reading a foreign language. Often the report is presented in a way that…
Phelan-McDermid Syndrome Clinical Care Guidelines – English
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.
Follow-up genetic Testing in English
A graphic explaining possible reqirements for follow-on genetic testing