{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,17]],"date-time":"2026-09-17T12:27:28Z","timestamp":1789648048939,"version":"4.0.0"},"reference-count":119,"publisher":"Cambridge University Press (CUP)","license":[{"start":{"date-parts":[[2025,6,13]],"date-time":"2025-06-13T00:00:00Z","timestamp":1749772800000},"content-version":"unspecified","delay-in-days":163,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"content-domain":{"domain":["cambridge.org"],"crossmark-restriction":true},"short-container-title":["Psychol. Med."],"published-print":{"date-parts":[[2025]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec id=\"S0033291725100536_sec1\">\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Catatonia has many potential underlying causes, but in some patients, no clear etiology is identified, sparking growing interest in its genetic basis. We aimed to provide the first comprehensive synthesis of genetic abnormalities in catatonia.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"S0033291725100536_sec2\" sec-type=\"methods\">\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>In this systematic review (PROSPERO CRD42023455118) we searched MEDLINE All, Embase Classic + Embase, PsycINFO, and AMED up to August 15, 2023, for studies on genetic testing and catatonia phenotyping in all age groups. Catatonia was diagnosed using specified diagnostic criteria or description of clinical features. Risk of bias was assessed using the Joanna Briggs Institute quality assessment tools. Results were summarized with a narrative synthesis.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"S0033291725100536_sec3\" sec-type=\"results\">\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      We included 99 studies involving 8600 individuals. Sex was reported for 6080 individuals, of whom 3208 (52.8%) were male. Mean age at onset of catatonia was 28.8\u00a0years (SD 16.3). The median duration of the index catatonic episode was 180\u00a0days (IQR 38 to 668). Stupor and mutism were the most frequently reported symptoms. Forty-seven genetic conditions were reported in catatonia, including Phelan-McDermid syndrome (\n                      <jats:italic>n<\/jats:italic>\n                      \u00a0=\u00a080), 22q11.2 deletion syndrome (\n                      <jats:italic>n<\/jats:italic>\n                      \u00a0=\u00a023), and Down\u2019s syndrome (\n                      <jats:italic>n<\/jats:italic>\n                      \u00a0=\u00a019). Study quality was good in 29 studies, moderate in 53, and poor in 17. The major focus of association studies has centered on periodic catatonia; despite identifying candidate genes at both 22q13 and 15q15, none have been replicated.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"S0033291725100536_sec4\" sec-type=\"conclusions\">\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Catatonia can manifest in a wide range of genetic syndromes, suggesting a shared vulnerability across diverse genetic and developmental disorders. We did not identify a unique phenomenology or treatment response profile in genetic associations of catatonia.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1017\/s0033291725100536","type":"journal-article","created":{"date-parts":[[2025,6,13]],"date-time":"2025-06-13T02:46:46Z","timestamp":1749782806000},"update-policy":"https:\/\/doi.org\/10.1017\/policypage","source":"Crossref","is-referenced-by-count":5,"title":["Genetic abnormalities in catatonia: a systematic review"],"prefix":"10.1017","volume":"55","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2611-2169","authenticated-orcid":false,"given":"Isabella","family":"Conti","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-7663-4201","authenticated-orcid":false,"given":"Kanchana","family":"Ramachandran","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James B.","family":"Badenoch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3732-217X","authenticated-orcid":false,"given":"Jack B.","family":"Fanshawe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7059-9627","authenticated-orcid":false,"given":"Emma","family":"Rengasamy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9250-6329","authenticated-orcid":false,"given":"Ben","family":"Cross","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Rogdaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0967-774X","authenticated-orcid":false,"given":"Anthony S.","family":"David","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4830-5893","authenticated-orcid":false,"given":"Paramala","family":"Santosh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4671-5410","authenticated-orcid":false,"given":"Jonathan P.","family":"Rogers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2346-4636","authenticated-orcid":false,"given":"Cameron","family":"Watson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"56","published-online":{"date-parts":[[2025,6,13]]},"reference":[{"key":"S0033291725100536_r95","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1007\/s004060070020","article-title":"hKCNN3 which maps to chromosome 1q21 is not the causative gene in periodic catatonia, a familial subtype of schizophrenia","volume":"250","author":"St\u00f6ber","year":"2000","journal-title":"European Archives of Psychiatry and Clinical Neuroscience"},{"key":"S0033291725100536_r57","doi-asserted-by":"publisher","DOI":"10.1111\/pcn.13483"},{"key":"S0033291725100536_r47","doi-asserted-by":"publisher","DOI":"10.1016\/j.schres.2004.07.017"},{"key":"S0033291725100536_r106","doi-asserted-by":"publisher","DOI":"10.1111\/anae.15627"},{"key":"S0033291725100536_r90","doi-asserted-by":"publisher","DOI":"10.1007\/s10803-020-04531-2"},{"key":"S0033291725100536_r68","doi-asserted-by":"publisher","DOI":"10.1016\/j.schres.2008.11.013"},{"key":"S0033291725100536_r62","doi-asserted-by":"publisher","DOI":"10.1097\/01.XME.0000418717.09723.3d"},{"key":"S0033291725100536_r64","first-page":"1727","article-title":"Severe catatonia, schizophrenia and hereditary coproporphyria. 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