Caregiver Mental Health Resources
Caring for emotional and physical health is critical for caregivers. These mental health support resource links were provided by Kiley Richards,…
European Consensus Recommendations on Communication, Language and Speech in Phelan-McDermid Syndrome
Phelan-McDermid syndrome is a genetic condition primarily caused by a deletion on the 22q13.3 region or a likely pathogenic/pathogenic variant of SHANK3. The main features comprise global developmental delay, marked impairment or absence of speech, and other clinical characteristics to a variable degree, such as hypotonia or psychiatric comorbidities.
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…
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 – 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.
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…
Improving The IEP through Advocacy
How to improve your child's IEP objectives through effective advocacy, presented at the 2017 PMSF Stanford Mini-symopsium
Follow-up genetic Testing in English
A graphic explaining possible reqirements for follow-on genetic testing
Follow-up Genetico per la Sindrome di Phelan-McDermid – Italian
A graphic explaining possible reqirements for follow-on genetic testing