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.
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…
Do you wonder how a research publication affects your loved one or the field of Phelan-McDermid research? The Research Roundup is…
PMSF initiated the Phelan-McPosium to bring families affected by PMS, clinicians, and researchers together to design patient-centered rigorous clinical and translational…
Reading and understanding your genetic report is like reading a foreign language. Often the report is presented in a way that…
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.
A graphic explaining possible reqirements for follow-on genetic testing
