{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,10]],"date-time":"2026-09-10T05:47:39Z","timestamp":1789019259570,"version":"build-2803163510"},"reference-count":31,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2022,8,5]],"date-time":"2022-08-05T00:00:00Z","timestamp":1659657600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2022,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Kabuki syndrome (KS) is a rare epigenetic disorder caused by heterozygous loss of function variants in either <jats:italic>KMT2D<\/jats:italic> (90%) or <jats:italic>KDM6A<\/jats:italic> (10%), both involved in regulation of histone methylation. While sleep disturbance in other Mendelian disorders of the epigenetic machinery has been reported, no study has been conducted on sleep in KS. This study assessed sleep in 59 participants with KS using a validated sleep questionnaire. Participants ranged in age from 4 to 43\u2009years old with 86% of participants having a pathogenic variant in <jats:italic>KMT2D<\/jats:italic>. In addition, data on adaptive function, behavior, anxiety, and quality of life were collected using their respective questionnaires. Some form of sleep issue was present in 71% of participants, with night\u2010waking, daytime sleepiness, and sleep onset delay being the most prevalent. Sleep dysfunction was positively correlated with maladaptive behaviors, anxiety levels, and decreasing quality of life. Sleep issues were not correlated with adaptive function. This study establishes sleep disturbance as a common feature of KS. Quantitative sleep measures may be a useful outcome measure for clinical trials in KS. Further, clinicians caring for those with KS should consider sleep dysfunction as an important feature that impacts overall health and well being in these patients.<\/jats:p>","DOI":"10.1002\/ajmg.a.62921","type":"journal-article","created":{"date-parts":[[2022,8,5]],"date-time":"2022-08-05T14:55:59Z","timestamp":1659711359000},"page":"3041-3048","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Sleep disturbance is a common feature of Kabuki syndrome"],"prefix":"10.1002","volume":"188","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7166-1015","authenticated-orcid":false,"given":"Tyler","family":"Rapp","sequence":"first","affiliation":[{"name":"University of North Carolina School of Medicine University of North Carolina  Chapel Hill North Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Allison J.","family":"Kalinousky","sequence":"additional","affiliation":[{"name":"McKusick\u2010Nathans Department of Genetic Medicine Johns Hopkins University School of Medicine  Baltimore Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer","family":"Johnson","sequence":"additional","affiliation":[{"name":"Kennedy Krieger Institute  Baltimore Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hans","family":"Bjornsson","sequence":"additional","affiliation":[{"name":"McKusick\u2010Nathans Department of Genetic Medicine Johns Hopkins University School of Medicine  Baltimore Maryland USA"},{"name":"Medicine University of Iceland  Reykjavik Iceland"},{"name":"Landspitali University Hospital  Reykjavik Iceland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacqueline","family":"Harris","sequence":"additional","affiliation":[{"name":"McKusick\u2010Nathans Department of Genetic Medicine Johns Hopkins University School of Medicine  Baltimore Maryland USA"},{"name":"Kennedy Krieger Institute  Baltimore Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,8,5]]},"reference":[{"key":"e_1_2_11_2_1","volume-title":"Manual for the ASEBA Preschool Forms & Profiles: An integrated system of multi\u2010informant assessment","author":"Achenbach T.","year":"2000"},{"key":"e_1_2_11_3_1","volume-title":"Manual for the ASEBA school\u2010age forms & profiles: An integrated system of multi\u2010informant assessment","author":"Achenbach T.","year":"2001"},{"key":"e_1_2_11_4_1","volume-title":"Manual for the ASEBA adult forms & profiles: For ages 18\u201359: Adult self\u2010report, adult behavior checklist","author":"Achenbach T.","year":"2003"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2018-105625"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13229-021-00426-w"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/00004583-199704000-00018"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1126\/scitranslmed.3009278"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1080\/10888691.2013.774875"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/jir.12463"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2788.2003.00457.x"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddz174"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10902-016-9843-9"},{"key":"e_1_2_11_14_1","unstructured":"GraphPad Prism (9.0).GraphPad software."},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/jir.12596"},{"key":"e_1_2_11_16_1","volume-title":"ABAS, adaptive behavior assessment system: Manual","author":"Harrison P. L.","year":"2000"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.sleep.2012.03.005"},{"key":"e_1_2_11_18_1","volume-title":"A","author":"Kalinousky A.","year":"2022"},{"key":"e_1_2_11_19_1","doi-asserted-by":"publisher","DOI":"10.4103\/1673-5374.243695"},{"key":"e_1_2_11_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320310312"},{"key":"e_1_2_11_21_1","doi-asserted-by":"publisher","DOI":"10.1177\/1073191111411667"},{"key":"e_1_2_11_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62124"},{"key":"e_1_2_11_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-7138(09)60942-0"},{"key":"e_1_2_11_24_1","doi-asserted-by":"publisher","DOI":"10.1097\/00004703-198402000-00002"},{"key":"e_1_2_11_25_1","doi-asserted-by":"publisher","DOI":"10.3390\/brainsci11080966"},{"key":"e_1_2_11_26_1","doi-asserted-by":"publisher","DOI":"10.1080\/13803395.2019.1623180"},{"key":"e_1_2_11_27_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62212"},{"key":"e_1_2_11_28_1","doi-asserted-by":"publisher","DOI":"10.31887\/DCNS.2003.5.3\/lstaner"},{"key":"e_1_2_11_29_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.107.4.e60"},{"key":"e_1_2_11_30_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2869.1998.00107.x"},{"key":"e_1_2_11_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.omtm.2021.02.011"},{"key":"e_1_2_11_32_1","doi-asserted-by":"publisher","DOI":"10.1159\/000196186"}],"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.62921","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.62921","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62921","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,2,21]],"date-time":"2024-02-21T06:43:50Z","timestamp":1708497830000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.62921"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,8,5]]},"references-count":31,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2022,10]]}},"alternative-id":["10.1002\/ajmg.a.62921"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.62921","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,8,5]]},"assertion":[{"value":"2022-07-03","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-07-18","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-08-05","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}