Gastrointestinal (GI) problems are common in Phelan-McDermid syndrome (PMS). Chewing and swallowing difficulties, dental problems, reflux disease, cyclic vomiting, constipation, incontinence, diarrhoea, and nutritional deficiencies have been most frequently reported.
Phelan-McDermid syndrome (PMS) is a 22q13.3 deletion syndrome that presents with a disturbed development, neurological and psychiatric characteristics, and sometimes other…
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.
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,…
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It has come to the attention of the PMS Medical Advisory Committee that many individuals with PMS have significant difficulty tolerating…
Clinical trials are conducted to collect data to evaluate the safety and benefit (efficacy) of a new drug in development, typically…
