{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,24]],"date-time":"2026-07-24T17:29:12Z","timestamp":1784914152198,"version":"3.55.0"},"reference-count":53,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2014,11,26]],"date-time":"2014-11-26T00:00:00Z","timestamp":1416960000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"The Harvard Clinical and Translational Science Center","award":["UL1 RR 025758"],"award-info":[{"award-number":["UL1 RR 025758"]}]},{"DOI":"10.13039\/100007229","name":"Harvard University","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100007229","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2015,2]]},"abstract":"<jats:sec><jats:label\/><jats:p>Angelman syndrome (AS) is a neurogenetic disorder. The goal of this study was to investigate the primary health issues affecting adults with AS and to further characterize the natural history and genotype\u2013phenotype correlations. Standardized phone interviews with caregivers for 110 adolescents and adults with AS were conducted. The impact of age, sex, and genotype on specific outcomes in neurology, orthopedics, internal medicine, and psychiatry were investigated. The mean age of individuals with AS was 24 years (range 16\u201350y). Active seizures were present in 41% of individuals, and 72% had sleep dysfunction. Significant constipation was present in 85%, and 32% were overweight or obese, with obesity disproportionately affecting women. Scoliosis affected 50% with a mean age at diagnosis of 12 years, and 24% of those diagnosed with scoliosis required surgery, an intervention disproportionately affecting men. Sixty\u2010eight percent were able to walk independently, and 13% were able to speak 5 or more words. Self\u2010injurious behavior was exhibited in 52% of individuals. The results of this study indicate that epilepsy severity may assume a bimodal age distribution: seizures are typically most severe in early childhood but may recur in adulthood. While late\u2010adolescent and adult sleep patterns were improved when compared to the degree of sleep dysfunction present during infancy and childhood, the prevalence of poor sleep in adults remained quite high. Primary areas of clinical management identified include the following: seizures, sleep, aspiration risk, GERD, constipation, dental care, vision, obesity, scoliosis, bone density, mobility, communication, behavior, and anxiety. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36864","type":"journal-article","created":{"date-parts":[[2014,11,26]],"date-time":"2014-11-26T17:55:40Z","timestamp":1417024540000},"page":"331-344","source":"Crossref","is-referenced-by-count":95,"title":["Angelman syndrome in adulthood"],"prefix":"10.1002","volume":"167","author":[{"given":"Anna M.","family":"Larson","sequence":"first","affiliation":[{"name":"Pediatric Epilepsy Program Department of Neurology Massachusetts General Hospital Boston Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julianna E.","family":"Shinnick","sequence":"additional","affiliation":[{"name":"Pediatric Epilepsy Program Department of Neurology Massachusetts General 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