{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,14]],"date-time":"2026-11-14T07:43:19Z","timestamp":1794642199895,"version":"4.9.1"},"reference-count":43,"publisher":"MDPI AG","issue":"5","license":[{"start":{"date-parts":[[2022,4,28]],"date-time":"2022-04-28T00:00:00Z","timestamp":1651104000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"NHMRC","award":["APP1117105"],"award-info":[{"award-number":["APP1117105"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Children"],"abstract":"<jats:p>Since the discovery of MECP2 duplication syndrome (MDS) in 1999, efforts to characterise this disorder have been limited by a lack of large datasets, with small case series often favouring the reporting of certain conditions over others. This study is the largest to date, featuring 134 males and 20 females, ascertained from the international MECP2 Duplication Database (MDBase). We report a higher frequency of pneumonia, bronchitis, bronchiolitis, gastroesophageal reflux and slow gut motility in males compared to females. We further examine the prevalence of other medical comorbidities such as epilepsy, gastrointestinal problems, feeding difficulties, scoliosis, bone fractures, sleep apnoea, autonomic disturbance and decreased pain sensitivity. A novel feature of urinary retention is reported and requires further investigation. Further research is required to understand the developmental trajectory of this disorder and to examine the context of these medical comorbidities in a quality of life framework.<\/jats:p>","DOI":"10.3390\/children9050633","type":"journal-article","created":{"date-parts":[[2022,4,28]],"date-time":"2022-04-28T12:06:01Z","timestamp":1651147561000},"page":"633","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Medical Comorbidities in MECP2 Duplication Syndrome: Results from the International MECP2 Duplication Database"],"prefix":"10.3390","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9875-0704","authenticated-orcid":false,"given":"Daniel","family":"Ta","sequence":"first","affiliation":[{"name":"Telethon Kids Institute, University of Western Australia, Perth, WA 6009, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jenny","family":"Downs","sequence":"additional","affiliation":[{"name":"Telethon Kids Institute, University of Western Australia, Perth, WA 6009, Australia"},{"name":"Curtin School of Allied Health, Curtin University, Perth, WA 6102, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gareth","family":"Baynam","sequence":"additional","affiliation":[{"name":"Telethon Kids Institute, University of Western Australia, Perth, WA 6009, Australia"},{"name":"WA Department of Health, Genetic Services of Western Australia, Subiaco, WA 6008, Australia"},{"name":"Western Australian Register of Developmental Anomalies, King Edward Memorial Hospital, Subiaco, WA 6904, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew","family":"Wilson","sequence":"additional","affiliation":[{"name":"Telethon Kids Institute, University of Western Australia, Perth, WA 6009, Australia"},{"name":"North Entrance, Perth Children\u2019s Hospital, 15 Hospital Ave., Nedlands, WA 6009, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Richmond","sequence":"additional","affiliation":[{"name":"Telethon Kids Institute, University of Western Australia, Perth, WA 6009, Australia"},{"name":"North Entrance, Perth Children\u2019s Hospital, 15 Hospital Ave., Nedlands, WA 6009, Australia"},{"name":"Discipline of Paediatrics, School of Medicine, University of Western Australia, Perth, WA 6009, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helen","family":"Leonard","sequence":"additional","affiliation":[{"name":"Telethon Kids Institute, University of Western Australia, Perth, WA 6009, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,4,28]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1315","DOI":"10.1111\/jpc.14399","article-title":"The incidence, prevalence and clinical features of MECP2 duplication syndrome in Australian children","volume":"55","author":"Downs","year":"2019","journal-title":"J. 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