{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,10]],"date-time":"2026-02-10T08:39:27Z","timestamp":1770712767118,"version":"3.49.0"},"reference-count":31,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T00:00:00Z","timestamp":1684368000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100020058","name":"Greenwood Genetic Center Foundation","doi-asserted-by":"publisher","award":["0005"],"award-info":[{"award-number":["0005"]}],"id":[{"id":"10.13039\/100020058","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2023,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Phelan\u2010McDermid Syndrome (PMS) is caused by deletions at chromosome 22q13.3 or pathogenic\/likely pathogenic <jats:italic>SHANK3<\/jats:italic> variants. The clinical presentation is extremely variable and includes global developmental delay\/intellectual disability (ID), seizures, neonatal hypotonia, and sleep disturbances, among others. This study investigated the prevalence of sleep disturbances, and the genetic and metabolic features associated with them, in a cohort of 56 individuals with PMS. Sleep data were collected via standardized observer\/caregiver questionnaires, while genetic data from array\u2010CGH and sequencing of 9 candidate genes within the 22q13.3 region, and metabolic profiling utilized the Biolog Phenotype Mammalian MicroArray plates. Sleep disturbances were present in 64.3% of individuals with PMS, with the most common problem being waking during the night (39%). Sleep disturbances were more prevalent in individuals with a <jats:italic>SHANK3<\/jats:italic> pathogenic variant (89%) compared to subjects with 22q13.3 deletions of any size (59.6%). Distinct metabolic profiles for individuals with PMS with and without sleep disturbances were also identified. These data are helpful information for recognizing and managing sleep disturbances in individuals with PMS, outlining the main candidate gene for this neurological manifestation, and highlighting potential biomarkers for early identification of at\u2010risk subjects and molecular targets for novel treatment approaches.<\/jats:p>","DOI":"10.1111\/cge.14361","type":"journal-article","created":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T07:30:54Z","timestamp":1684395054000},"page":"198-209","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Sleep disturbances in Phelan\u2010McDermid syndrome: Clinical and metabolic profiling of 56 individuals"],"prefix":"10.1111","volume":"104","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5906-2391","authenticated-orcid":false,"given":"Bridgette A.","family":"Moffitt","sequence":"first","affiliation":[{"name":"School of Nursing, Healthcare Genetics Program Clemson University  Clemson South Carolina USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lindsay M.","family":"Oberman","sequence":"additional","affiliation":[{"name":"Noninvasive Neuromodulation Unit, Experimental Therapeutics and Pathophysiology Branch, National Institute of Mental Health National Institutes of Health  Bethesda Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura","family":"Beamer","sequence":"additional","affiliation":[{"name":"Greenwood Genetic Center  Greenwood South Carolina USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sujata","family":"Srikanth","sequence":"additional","affiliation":[{"name":"School of Nursing, Healthcare Genetics Program Clemson University  Clemson South Carolina USA"},{"name":"Greenwood Genetic Center  Greenwood South Carolina USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lavanya","family":"Jain","sequence":"additional","affiliation":[{"name":"Genomic Medicine Institute, Cleveland Clinic  Cleveland Ohio United States"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lauren","family":"Cascio","sequence":"additional","affiliation":[{"name":"Greenwood Genetic Center  Greenwood South Carolina USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kelly","family":"Jones","sequence":"additional","affiliation":[{"name":"Greenwood Genetic Center  Greenwood South Carolina USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rini","family":"Pauly","sequence":"additional","affiliation":[{"name":"Greenwood Genetic Center  Greenwood South Carolina USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Melanie","family":"May","sequence":"additional","affiliation":[{"name":"Greenwood Genetic Center  Greenwood South Carolina USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cindy","family":"Skinner","sequence":"additional","affiliation":[{"name":"Greenwood Genetic Center  Greenwood South Carolina USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Caroline","family":"Buchanan","sequence":"additional","affiliation":[{"name":"Greenwood Genetic Center  Greenwood South Carolina USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Barbara R.","family":"DuPont","sequence":"additional","affiliation":[{"name":"Greenwood Genetic Center  Greenwood South Carolina USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Walter E.","family":"Kaufmann","sequence":"additional","affiliation":[{"name":"Greenwood Genetic Center  Greenwood South Carolina USA"},{"name":"Department of Human Genetics Emory University School of Medicine  Atlanta Georgia USA"},{"name":"Department of Neurology Boston Children's Hospital  Boston Massachusetts USA"},{"name":"Anavex Life Sciences Corp  New York New York USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kathleen","family":"Valentine","sequence":"additional","affiliation":[{"name":"School of Nursing, Healthcare Genetics Program Clemson University  Clemson South Carolina USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Linda D.","family":"Ward","sequence":"additional","affiliation":[{"name":"School of Nursing, Healthcare Genetics Program Clemson University  Clemson South Carolina USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Diana","family":"Ivankovic","sequence":"additional","affiliation":[{"name":"School of Nursing, Healthcare Genetics Program Clemson University  Clemson South Carolina USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R. 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