{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T21:28:37Z","timestamp":1791494917922,"version":"4.3.4"},"reference-count":36,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2016,7,21]],"date-time":"2016-07-21T00:00:00Z","timestamp":1469059200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100001819","name":"International Rett Syndrome Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100001819","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2017,4]]},"abstract":"<jats:p>Individuals with two or more copies of the <jats:italic><jats:styled-content style=\"fixed-case\">MECP2<\/jats:styled-content><\/jats:italic> gene, located at Xq28, share clinical features and a distinct facial phenotype known as <jats:italic><jats:styled-content style=\"fixed-case\">MECP2<\/jats:styled-content><\/jats:italic> Duplication syndrome. We have examined perinatal characteristics, early childhood development and medical co\u2010morbidities in this disorder. The International Rett Syndrome Phenotype Database (<jats:styled-content style=\"fixed-case\">InterRett<\/jats:styled-content>), which collects information from caregivers and clinicians on individuals with Rett syndrome and <jats:italic><jats:styled-content style=\"fixed-case\">MECP2<\/jats:styled-content><\/jats:italic> associated disorders, was used as the data source. Data were available on 56 cases (49 males and 7 females) with <jats:italic><jats:styled-content style=\"fixed-case\">MECP2<\/jats:styled-content><\/jats:italic> Duplication syndrome. Median age at ascertainment was 7.9 years (range: 1.2\u201337.6 years) and at diagnosis 3.0 years (range: 3 weeks\u201337 years). Less than a third (29%) learned to walk. Speech deterioration was reported in 34% and only 20% used word approximations or better at ascertainment. Over half (55%) had been hospitalised for respiratory infections in the first 2 years of life. Just under half (44%) had seizures, occurring daily in nearly half of this group. The majority (89%) had gastrointestinal problems and a third had a gastrostomy. Following the recent demonstration of phenotype reversal in a mouse model of <jats:italic><jats:styled-content style=\"fixed-case\">MECP2<\/jats:styled-content><\/jats:italic> Duplication, a clear understanding of the natural history is crucial to the design and implementation of future therapeutic strategies.<\/jats:p>","DOI":"10.1111\/cge.12814","type":"journal-article","created":{"date-parts":[[2016,6,1]],"date-time":"2016-06-01T08:06:45Z","timestamp":1464768405000},"page":"557-563","source":"Crossref","is-referenced-by-count":54,"title":["Expanding the clinical picture of the <i>MECP2<\/i> Duplication syndrome"],"prefix":"10.1111","volume":"91","author":[{"given":"Z.","family":"Lim","sequence":"first","affiliation":[{"name":"Telethon Kids Institute University of Western Australia  Perth Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Downs","sequence":"additional","affiliation":[{"name":"Telethon Kids Institute University of Western 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