Clinical Care Archives - Page 3 of 5 - Phelan-McDermid Syndrome Foundation

European Consensus recommendations on Epilepsy in Phelan McDermid syndrome

Phelan-McDermid syndrome (PMS) is a 22q13.3 deletion syndrome that presents with a disturbed development, neurological and psychiatric characteristics, and sometimes other…

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.

European Consensus Recommendations on Altered Sensory Functioning in Phelan-McDermid syndrome

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.

Neurofibromatosis type 2 (NF2)

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.

Chromosome 22 Ring

This resource is authored by Katy Phelan, PhD., et al Ring chromosome 22 is a rare genetic condition resulting when one…

Guidelines on the Management of Cellulitis in Lymphedema

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.