{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,22]],"date-time":"2026-07-22T04:59:31Z","timestamp":1784696371273,"version":"3.55.0"},"reference-count":16,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2025,10,13]],"date-time":"2025-10-13T00:00:00Z","timestamp":1760313600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100027331","name":"CHARGE Syndrome Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100027331","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":[[2026,2]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    CHARGE syndrome is a heterogeneous genetic disorder with an evolving phenotype, particularly in adults. This study examined whether dysautonomic symptoms are common in adolescents and adults with CHARGE syndrome. Adolescents and adults with CHARGE syndrome completed a CHARGE\u2010specific checklist and modified items from COMPASS\u201031 with the cardiovascular items from the ASP to assess dysautonomic symptoms. Participants were 25 individuals (20 female, 5 male), aged 12\u201333\u2009years (mean\u2009=\u200921.3\u2009years), with clinically confirmed diagnoses, 16 of whom had a\n                    <jats:styled-content style=\"fixed-case\">CHD7<\/jats:styled-content>\n                    mutation. Dysautonomic symptoms were common: 50%\u201360% reported fatigue, heat intolerance, constipation, nausea, and headaches; 40%\u201350% reported postural tachycardia, tachycardia, dyspnea, weakness, exercise intolerance, and anxiety. These rates appear at a high frequency. A detailed case study of one participant is included in the supplemental material. Findings suggest dysautonomia may be prevalent in individuals with CHARGE syndrome and highlight the need for greater awareness of symptoms and triggers. Interventions such as vagal nerve stimulation may help restore autonomic balance and improve quality of life.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.64273","type":"journal-article","created":{"date-parts":[[2025,10,13]],"date-time":"2025-10-13T23:06:12Z","timestamp":1760396772000},"page":"419-425","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Prevalence of Dysautonomic Symptoms in\n                    <scp>CHARGE<\/scp>\n                    Syndrome: A Pilot Study of 25 Individuals With\n                    <scp>CHARGE<\/scp>\n                    Syndrome"],"prefix":"10.1002","volume":"200","author":[{"ORCID":"https:\/\/orcid.org\/0009-0008-2548-1046","authenticated-orcid":false,"given":"Kim","family":"Blake","sequence":"first","affiliation":[{"name":"IWK Health Centre Dalhousie University  Halifax Nova Scotia Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julia","family":"Morrison","sequence":"additional","affiliation":[{"name":"Department of Anesthesiology and Pain Medicine University of Ottawa  Ottawa Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Burge","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Dalhousie University  Halifax Nova Scotia Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9016-6917","authenticated-orcid":false,"given":"Alexandra","family":"Hudson","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Alberta  Edmonton Alberta Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela","family":"Arra","sequence":"additional","affiliation":[{"name":"Nova Scotia Health Authority  Nova Scotia Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rita","family":"Jabbour","sequence":"additional","affiliation":[{"name":"Carleton University  Ottawa Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,10,13]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32179"},{"key":"e_1_2_12_3_1","unstructured":"Blake K. D. C.Prasad andM.Hitzert.2025.\u201cOrphanet \u2013 Disease Template for CHARGE Syndrome \u201d ORPHA:138."},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1101\/cshperspect.a034173"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.15420\/aer.2023.20"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/febs.14473"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.autneu.2018.07.001"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ncl.2022.08.002"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31584"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mayocp.2012.10.013"},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.1212\/wnl.52.3.523"},{"key":"e_1_2_12_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38085"},{"issue":"4","key":"e_1_2_12_13_1","article-title":"Vagal Nerve Stimulator (VNS) as a Novel Approach in the Treatment of an Adult With CHARGE Syndrome","volume":"14","author":"Vakili R.","year":"2024","journal-title":"Autism\u2010Open Access"},{"key":"e_1_2_12_14_1","volume-title":"GeneReviews [Internet]","author":"Ravenswaaij\u2010Arts C. M.","year":"2006"},{"key":"e_1_2_12_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.autneu.2021.102828"},{"key":"e_1_2_12_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1407"},{"key":"e_1_2_12_17_1","volume-title":"StatPearls [Internet]","author":"Waxenbaum J. A.","year":"2019"}],"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.64273","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,5]],"date-time":"2026-01-05T13:39:31Z","timestamp":1767620371000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.64273"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,10,13]]},"references-count":16,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2026,2]]}},"alternative-id":["10.1002\/ajmg.a.64273"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.64273","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,10,13]]},"assertion":[{"value":"2025-05-26","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-09-24","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-10-13","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}