Altered sensory functioning is often observed in individuals with SHANK3 related Phelan-McDermid syndrome (PMS). Compared to typically developing individuals and individuals with an autism spectrum disorder, it has been suggested that there are distinctive features of sensory functioning in PMS.
Individuals with Phelan-McDermid syndrome caused by a 22q terminal deletion and a ring chromosome are at increased risk for Neurofibromatosis type 2 (NF2). However, the prevalence of NF2 in individuals with PMS and a r (22) is unknown.
This resource is authored by Katy Phelan, PhD., et al Ring chromosome 22 is a rare genetic condition resulting when one…
This guidance is mainly intended to support primary health care professionals but should also be of value to those working in specialist lymphoedema services. It has been produced by a consensus group (membership listed on page 11) with an annual literature review for new evidence. Disclaimer: These recommendations do not discuss how lymphedema interacts with other pathologies and only a few select medications are reviewed. These guidelines were recommended for a population that did not necessarily have chromosome abnormalities. Discuss treatment management and drug interactions with your physician.
Clinicians treating PMS individuals experiencing a neuropsychiatric event can use this form to reach out to the Neuropsychiatric Consultation Group. The…
PMS is a rare genetic disorder which usually involves changes in a critical gene (SHANK3) on the longarm of chromosome 22.…
EpilepsyMichigan Youtube Channel 0:00 Optimizing Your Telemedicine Visit Nancy McNamara MD, Pediatric Epileptologist, Assistant Clinical Professor, Codirector of Epilepsy Surgery Program,…
Rare Epilepsies: Getting the Best Care for Everyone Jacqueline French, MD, Chief Medical and Innovation Officer, Epilepsy Foundation; Epileptologist, NYU Langone…
CANDID , Consortium for Autism, Neurodevelopmental Disorders & Digestive Diseases, was a collaboration between patient advocacy groups, scientists, clinicians, and research organizations that is focused on…
Use this chart to help you make an informed decision when considering participation in a clinical trial.
