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Here, we describe the evolution of the clinical phenotypes of AS in adulthood, using clinical data from 95 individuals (mean age 31.6\u2009years, median 29.0\u2009years, range 18\u201383\u2009years), with genetically confirmed AS. Data was collected through physical examination and inspection of medical records, combined with questionnaires and interviews. Adults with AS experience substantial debilitating health problems. Constipation, reflux, visual problems, scoliosis, behavioral and sleeping problems occurred frequently and require appropriate attention. Epilepsy was reported in 57% of adults, negatively affecting the level of functioning. Non\u2010convulsive status epilepticus was not observed in the adults, however some individuals developed prolonged episodes of rhythmic shaking while awake. A decline in mobility was noted in the majority of adults. A minority of adults with AS showed microcephaly. Taken together, this first phenotypic study of adults with AS to include in person interviews with care\u2010givers and physical examination of patients, including the eldest adult reported to date, provides important insight in the development of the syndrome into adulthood. This knowledge is required to improve care for adult individuals with AS and to evaluate future therapies for this group.<\/jats:p>","DOI":"10.1002\/ajmg.a.61940","type":"journal-article","created":{"date-parts":[[2020,10,27]],"date-time":"2020-10-27T19:35:03Z","timestamp":1603827303000},"page":"168-181","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":28,"title":["Clinical aspects of a large group of adults with Angelman syndrome"],"prefix":"10.1002","volume":"185","author":[{"given":"Inge","family":"den Besten","sequence":"first","affiliation":[{"name":"Intellectual Disability Medicine, Department of General Practice Erasmus MC Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rianne F.","family":"de Jong","sequence":"additional","affiliation":[{"name":"Intellectual Disability Medicine, Department of General Practice Erasmus MC Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amber","family":"Geerts\u2010Haages","sequence":"additional","affiliation":[{"name":"Intellectual Disability Medicine, Department of General Practice Erasmus MC Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hennie T.","family":"Bruggenwirth","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Erasmus University Medical Center Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marije","family":"Koopmans","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Utrecht University Medical Center Utrecht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"ENCORE Expertise Center for AS 18+","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alice","family":"Brooks","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Erasmus University Medical Center Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ype","family":"Elgersma","sequence":"additional","affiliation":[{"name":"Department of Neuroscience Erasmus MC University Medical Center Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dederieke A. 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