{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T10:07:51Z","timestamp":1777370871386,"version":"3.51.4"},"reference-count":13,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2021,5,5]],"date-time":"2021-05-05T00:00:00Z","timestamp":1620172800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100005401","name":"American Society of Human Genetics","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100005401","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2021,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Wolf\u2013Hirschhorn syndrome (WHS) is a contiguous gene disorder consisting of prenatal and postnatal growth deficiency, distinctive craniofacial features, intellectual disability, and seizures. The condition is caused by a partial loss of material from the distal portion of the short arm of chromosome 4 (4p16.3). While there are many reports of individuals with WHS, useful data on long\u2010term survival and life status of adults with the syndrome are very limited. There are only 11 reports of individuals over the age of 18\u2009years in the literature. Establishing the medical manifestations of adults with WHS would be helpful in establishing appropriate health supervision guidelines. This study was one component of a two\u2010part investigation on adults with WHS. This patient\u2010reported outcomes study (PROS) was accomplished by using the registry of rare diseases at Sanford Research, Coordination of Rare Diseases (CoRDS)at Sanford. Thirty family members or caretakers of 30 adults with WHS\/4p\u2010 entered into the CoRDS registry and completed some or all of the survey data. Twelve caretakers completed the recently\u2010added survey on activities of daily living. Two of the individuals with WHS were partly independent while 10 required total care. The results provide novel information on daily life and independence in adults with WHS. Importantly, the majority of caretakers reported that the adults were in good health. The data from both parts of the study will contribute to our knowledge of the natural history of the syndrome and guide in establishing appropriate health supervision guidelines for adults with WHS.<\/jats:p>","DOI":"10.1002\/ajmg.a.62220","type":"journal-article","created":{"date-parts":[[2021,5,5]],"date-time":"2021-05-05T12:17:35Z","timestamp":1620217055000},"page":"2065-2069","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["<scp>Natural history study of adults with Wolf\u2013Hirschhorn syndrome<\/scp> 2: Patient\u2010reported outcomes study"],"prefix":"10.1002","volume":"185","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6007-8518","authenticated-orcid":false,"given":"John C.","family":"Carey","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Division of Medical Genetics University of Utah  Salt Lake City Utah USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amanda","family":"Lortz","sequence":"additional","affiliation":[{"name":"4p\u2010Support Group  Delaware Ohio USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alyssa","family":"Mendel","sequence":"additional","affiliation":[{"name":"Sanford Research  Sioux Falls North Dakota USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7128-7606","authenticated-orcid":false,"given":"Agatino","family":"Battaglia","sequence":"additional","affiliation":[{"name":"Department of Developmental Neuroscience IRCCS Stella Maris Foundation  Pisa Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,5,5]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.40469"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2004.02.017"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31449"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.2008.03233.x"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62176"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.4103\/2229-3485.86879"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg-a.61859"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37537"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30186"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-019-0688-6"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320550413"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2018-2587"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32483"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62220","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.62220","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62220","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,25]],"date-time":"2023-08-25T08:43:26Z","timestamp":1692953006000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.62220"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,5,5]]},"references-count":13,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2021,7]]}},"alternative-id":["10.1002\/ajmg.a.62220"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.62220","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,5,5]]},"assertion":[{"value":"2020-07-29","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-03-19","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-05-05","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}