{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T12:00:40Z","timestamp":1791201640096,"version":"4.2.0"},"reference-count":45,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2022,8,23]],"date-time":"2022-08-23T00:00:00Z","timestamp":1661212800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2022,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Sleep is essential to maintaining a healthy life. Sleep disturbances among individuals with neurodevelopmental disorders are not well studied, affecting their early detection and treatment. Sleep disturbances in individuals with Phelan<jats:styled-content style=\"fixed-case\">\u2013<\/jats:styled-content>McDermid Syndrome (PMS) are among the primary concerns reported by parents. However, little research has been aimed at addressing their concern.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>The purpose of this investigation was to identify and quantify specific sleep disturbances in people with PMS by analyzing data collected by the PMS Foundation International Registry.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The registry shows that 284 out of 384 (73.4%) individuals with confirmed chromosome 22q13 deletions or <jats:italic>SHANK3<\/jats:italic> pathogenic variants have a sleep disturbance. The prevalence of sleep disturbances increases with age with 56% reporting a sleep disturbance in the 0\u20133\u00a0year age group and 90% reporting these disturbances in those over age 18\u2009years old. The primary sleep disturbances were circadian rhythm sleep disorders that included difficulty falling asleep, frequent nighttime awakenings, difficulty returning to sleep after a nighttime awakening event, and hypersomnia and parasomnias including enuresis, night terrors, sleepwalking, and sleep apnea. Sleep disturbances were similarly frequent among individuals with <jats:italic>SHANK3<\/jats:italic> pathogenic variants (84.8%) and those with deletions (71.9%), supporting the role of haploinsufficiency of <jats:italic>SHANK3<\/jats:italic> in sleep.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Sleep disturbances are a common feature of PMS and should be considered in clinical evaluation and management because of the effect they have on the quality of life of the patients and their families.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2035","type":"journal-article","created":{"date-parts":[[2022,8,23]],"date-time":"2022-08-23T08:40:02Z","timestamp":1661244002000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Sleep and <scp>Phelan\u2013McDermid<\/scp> Syndrome: Lessons from the International Registry and the scientific literature"],"prefix":"10.1002","volume":"10","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 Doctoral Program Clemson University  Clemson South Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara M.","family":"Sarasua","sequence":"additional","affiliation":[{"name":"School of Nursing, Healthcare Genetics Doctoral Program Clemson University  Clemson South Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linda","family":"Ward","sequence":"additional","affiliation":[{"name":"School of Nursing, Healthcare Genetics Doctoral Program Clemson University  Clemson South Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diana","family":"Ivankovic","sequence":"additional","affiliation":[{"name":"School of Nursing, Healthcare Genetics Doctoral Program Clemson University  Clemson South Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathleen","family":"Valentine","sequence":"additional","affiliation":[{"name":"School of Nursing, Healthcare Genetics Doctoral Program Clemson University  Clemson South Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Curtis","family":"Rogers","sequence":"additional","affiliation":[{"name":"Greenwood Genetics Center  Greenwood South Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katy","family":"Phelan","sequence":"additional","affiliation":[{"name":"Genetics Laboratory Florida Cancer Specialists and Research Institute  Fort Myers Florida USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2017-4270","authenticated-orcid":false,"given":"Luigi","family":"Boccuto","sequence":"additional","affiliation":[{"name":"School of Nursing, Healthcare Genetics Doctoral Program Clemson University  Clemson South Carolina USA"},{"name":"Greenwood Genetics Center  Greenwood South Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,8,23]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13229\u2010021\u201000426\u2010w"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.3389\/fnins.2021.604165"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.sleh.2017.03.009"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1186\/2040\u20102392\u20101\u201015"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/sleep\/zsw062"},{"issue":"5","key":"e_1_2_10_7_1","first-page":"368","article-title":"Common sleep disorders in children","volume":"89","author":"Carter K. 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