{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,27]],"date-time":"2026-08-27T14:11:44Z","timestamp":1787839904861,"version":"build-2784847793"},"reference-count":28,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2024,7,30]],"date-time":"2024-07-30T00:00:00Z","timestamp":1722297600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100002341","name":"Research Council of Finland","doi-asserted-by":"publisher","award":["311934"],"award-info":[{"award-number":["311934"]}],"id":[{"id":"10.13039\/501100002341","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002341","name":"Research Council of Finland","doi-asserted-by":"publisher","award":["331436"],"award-info":[{"award-number":["331436"]}],"id":[{"id":"10.13039\/501100002341","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":[[2025,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Aim<\/jats:title><jats:p>To describe the specific brain magnetic resonance imaging (MRI) patterns of the paediatric genetic disorders associated with white matter abnormalities in Northern Finland.<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>In this retrospective population\u2010based longitudinal study, brain MRI scans accumulated from 1990 to 2019 at Oulu University Hospital, Finland, were assessed. Inclusion criteria were defined as leukodystrophies or genetic diseases with significant white matter abnormalities that did not meet the criteria for leukodystrophy, at least one brain MRI, and age under 18\u2009years at diagnosis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A total of 83 patients (48 males, 35 females) were found with 52 different diseases. The median age at the time of the brain MRI was 22\u2009months (interquartile range [IQR]\u2009=\u200946\u2009months). In 72 (87%) of the children, brain MRIs revealed abnormal findings, including cerebral white matter abnormalities (<jats:italic>n<\/jats:italic>\u2009=\u200949, 59%), brainstem signal abnormalities (<jats:italic>n<\/jats:italic>\u2009=\u200928, 34%), thinning of the corpus callosum (<jats:italic>n<\/jats:italic>\u2009=\u200930, 36%), delayed myelination (<jats:italic>n<\/jats:italic>\u2009=\u200911, 13%), and permanent hypomyelination (<jats:italic>n<\/jats:italic>\u2009=\u20099, 11%).<\/jats:p><\/jats:sec><jats:sec><jats:title>Interpretation<\/jats:title><jats:p>Symmetrical and bilateral white matter signal patterns of the brain MRI should raise suspicion of genetic disorders when the clinical symptoms are compatible. This study illustrates brain imaging patterns of childhood\u2010onset genetic disorders in a population in Northern Finland and improves the diagnostic accuracy of rare genetic disorders.<\/jats:p><\/jats:sec>","DOI":"10.1111\/dmcn.16036","type":"journal-article","created":{"date-parts":[[2024,7,31]],"date-time":"2024-07-31T05:20:06Z","timestamp":1722403206000},"page":"186-194","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Brain <scp>MRI<\/scp> findings in paediatric genetic disorders associated with white matter abnormalities"],"prefix":"10.1111","volume":"67","author":[{"ORCID":"https:\/\/orcid.org\/0009-0009-8184-4160","authenticated-orcid":false,"given":"Jaakko H.","family":"Oikarainen","sequence":"first","affiliation":[{"name":"Medical Research Center Oulu University of Oulu and Oulu University Hospital  Oulu Finland"},{"name":"Research Unit of Health Sciences and Technology University of Oulu  Oulu 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Research Center Oulu University of Oulu and Oulu University Hospital  Oulu Finland"},{"name":"Department of Clinical Genetics Oulu University Hospital  Oulu Finland"},{"name":"Research Unit of Clinical Medicine University of Oulu  Oulu Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5488-5885","authenticated-orcid":false,"given":"Tytti M.\u2010L.","family":"Pokka","sequence":"additional","affiliation":[{"name":"Medical Research Center Oulu University of Oulu and Oulu University Hospital  Oulu Finland"},{"name":"Research Unit of Clinical Medicine University of Oulu  Oulu Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8041-3205","authenticated-orcid":false,"given":"Jukka S.","family":"Moilanen","sequence":"additional","affiliation":[{"name":"Medical Research Center Oulu University of Oulu and Oulu University Hospital  Oulu Finland"},{"name":"Department of Clinical Genetics 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