{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,30]],"date-time":"2026-10-30T22:26:10Z","timestamp":1793399170138,"version":"4.5.0"},"reference-count":13,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2025,2,22]],"date-time":"2025-02-22T00:00:00Z","timestamp":1740182400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"publisher","award":["RCD is supported with an L1 Investigator Grant (ID"],"award-info":[{"award-number":["RCD is supported with an L1 Investigator Grant (ID"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"publisher","award":["SGT is supported by an L3 Investigator Grant (ID 1"],"award-info":[{"award-number":["SGT is supported by an L3 Investigator Grant (ID 1"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100001245","name":"Jeffrey Modell Foundation","doi-asserted-by":"publisher","award":["CIRCA investigators are supported by the Jeffrey M"],"award-info":[{"award-number":["CIRCA investigators are supported by the Jeffrey M"]}],"id":[{"id":"10.13039\/100001245","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002337","name":"Petre Foundation","doi-asserted-by":"publisher","award":["RCD supported by Petre Foundation"],"award-info":[{"award-number":["RCD supported by Petre Foundation"]}],"id":[{"id":"10.13039\/501100002337","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Develop Med Child Neuro"],"published-print":{"date-parts":[[2025,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report eight children with de novo pathogenic DNA variants in chromatin\u2010related genes: <jats:italic>MORC2, CHD7, KANSL1, KMT2D, ZMYND11, HIST1HIE, EP300,<\/jats:italic> and <jats:italic>KMT2B<\/jats:italic>. All children experienced infection or vaccine\u2010provoked neuroregression or abrupt\u2010onset\u00a0neuropsychiatric syndromes. Most had delayed development (<jats:italic>n<\/jats:italic>\u2009=\u20096) before the first regression, and four had immune deficiency or autoimmunity (<jats:italic>n<\/jats:italic>\u2009=\u20094). At a mean age of 4\u2009years 2\u2009months (range 1\u20138\u2009years), symptoms included infection\u2010provoked autistic\/language regression (<jats:italic>n<\/jats:italic>\u2009=\u20096), cognitive decline (<jats:italic>n<\/jats:italic>\u2009=\u20093), gait deterioration (<jats:italic>n<\/jats:italic>\u2009=\u20093), or abrupt\u2010onset\u00a0anxiety, obsessive\u2010compulsive disorder, and\/or tics (<jats:italic>n<\/jats:italic>\u2009=\u20095). Three children had ongoing infection\u2010provoked deteriorations. Six children benefited from intravenous immunoglobulin (<jats:italic>n<\/jats:italic>\u2009=\u20093) or antibiotics (<jats:italic>n<\/jats:italic>\u2009=\u20094). Ribonucleic acid expression of the eight chromatin genes was similar in neuronal, glial, and peripheral leukocytes, unlike non\u2010chromatin neurodevelopmental genes, which have predominantly neuronal expression. These cases demonstrate the role of chromatin dysregulation in autistic regression and abrupt\u2010onset neuropsychiatric syndromes, potentially related to brain and immune gene dysregulation.<\/jats:p>","DOI":"10.1111\/dmcn.16276","type":"journal-article","created":{"date-parts":[[2025,2,22]],"date-time":"2025-02-22T03:15:01Z","timestamp":1740194101000},"page":"1095-1102","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Pathogenic variants in chromatin\u2010related genes: Linking immune dysregulation to neuroregression\u00a0and acute neuropsychiatric disorders"],"prefix":"10.1111","volume":"67","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2495-1826","authenticated-orcid":false,"given":"Russell C.","family":"Dale","sequence":"first","affiliation":[{"name":"Kids Neuroscience Centre, The Children's Hospital at Westmead, Faculty of Medicine and Health University of Sydney  Sydney NSW Australia"},{"name":"The Children's Hospital at Westmead Clinical School, Faculty of Medicine and Health University of Sydney  Sydney NSW Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shekeeb","family":"Mohammad","sequence":"additional","affiliation":[{"name":"Kids Neuroscience Centre, The Children's Hospital at Westmead, Faculty of Medicine and Health University of Sydney  Sydney NSW Australia"},{"name":"The Children's Hospital at Westmead Clinical School, Faculty of Medicine and Health University of Sydney  Sydney NSW Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4633-4316","authenticated-orcid":false,"given":"Velda X.","family":"Han","sequence":"additional","affiliation":[{"name":"Kids Neuroscience Centre, The Children's Hospital at Westmead, Faculty of Medicine and Health University of Sydney  Sydney NSW Australia"},{"name":"Khoo Teck Puat\u2010National University Children's Medical Institute National University Health System  Singapore Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroya","family":"Nishida","sequence":"additional","affiliation":[{"name":"Kids Neuroscience Centre, The Children's Hospital at Westmead, Faculty of Medicine and Health University of Sydney  Sydney NSW Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Himanshu","family":"Goel","sequence":"additional","affiliation":[{"name":"Hunter Genetics  Waratah NSW Australia"},{"name":"School of Medicine and Public Health University of Newcastle  Callaghan NSW Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stuart G.","family":"Tangye","sequence":"additional","affiliation":[{"name":"Garvan Institute of Medical Research  Darlinghurst NSW Australia"},{"name":"School of Clinical Medicine, Faculty of Medicine and Health UNSW Sydney  Darlinghurst NSW Australia"},{"name":"CIRCA (Clinical Immunogenomics Research Consortium Australia)  Sydney NSW Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Georgina","family":"Hollway","sequence":"additional","affiliation":[{"name":"Garvan Institute of Medical Research  Darlinghurst NSW Australia"},{"name":"School of Clinical Medicine, Faculty of Medicine and Health UNSW Sydney  Darlinghurst NSW Australia"},{"name":"CIRCA (Clinical Immunogenomics Research Consortium Australia)  Sydney NSW Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3414-3889","authenticated-orcid":false,"given":"Esther","family":"Tantsis","sequence":"additional","affiliation":[{"name":"Kids Neuroscience Centre, The Children's Hospital at Westmead, Faculty of Medicine and Health University of Sydney  Sydney NSW Australia"},{"name":"The Children's Hospital at Westmead Clinical School, Faculty of Medicine and Health University of Sydney  Sydney NSW Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6219-9479","authenticated-orcid":false,"given":"Deepak","family":"Gill","sequence":"additional","affiliation":[{"name":"Kids Neuroscience Centre, The Children's Hospital at Westmead, Faculty of Medicine and Health University of Sydney  Sydney NSW Australia"},{"name":"The Children's Hospital at Westmead Clinical School, Faculty of Medicine and Health University of Sydney  Sydney NSW Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4928-692X","authenticated-orcid":false,"given":"Shrujna","family":"Patel","sequence":"additional","affiliation":[{"name":"Kids Neuroscience Centre, The Children's Hospital at Westmead, Faculty of Medicine and Health University of Sydney  Sydney NSW Australia"},{"name":"The Children's Hospital at Westmead Clinical School, Faculty of Medicine and Health University of Sydney  Sydney NSW Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"Chromatin Immune\u2010Brain Group","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,2,22]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/dmcn.14398"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1089"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1086887"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2017.11.013"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pnpbp.2017.12.013"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ebiom.2024.105156"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1089\/cap.2014.0084"},{"key":"e_1_2_9_9_1","first-page":"11","article-title":"Prevalence and cumulative incidence of autism spectrum disorders and the patterns of co\u2010occurring neurodevelopmental disorders in a total population sample of 5\u2010year\u2010old children. Mol","author":"Saito M","year":"2020","journal-title":"Autism"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-019-0554-6"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.63607"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41582-021-00530-8"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41398-021-01198-w"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.biocel.2017.11.012"}],"container-title":["Developmental Medicine &amp; Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/dmcn.16276","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T00:56:02Z","timestamp":1756256162000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/dmcn.16276"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,2,22]]},"references-count":13,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2025,8]]}},"alternative-id":["10.1111\/dmcn.16276"],"URL":"https:\/\/doi.org\/10.1111\/dmcn.16276","archive":["Portico"],"relation":{},"ISSN":["0012-1622","1469-8749"],"issn-type":[{"value":"0012-1622","type":"print"},{"value":"1469-8749","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,2,22]]},"assertion":[{"value":"2024-10-17","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-01-27","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-02-22","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}