{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,19]],"date-time":"2026-10-19T19:39:03Z","timestamp":1792438743916,"version":"4.5.0"},"reference-count":36,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2024,2,20]],"date-time":"2024-02-20T00:00:00Z","timestamp":1708387200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Ann Clin Transl Neurol"],"published-print":{"date-parts":[[2024,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>To determine the prevalence of neuroimaging abnormalities in individuals with Down syndrome regression disorder (DSRD) and evaluate if neuroimaging abnormalities were predictive of therapeutic responses.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A multicenter, retrospective, case\u2013control study which reviewed neuroimaging studies of individuals with DSRD and compared them to a control cohort of individuals with Down syndrome (DS) alone was performed. Individuals aged 10\u201330\u2009years and meeting international consensus criteria for DSRD were included. The presence of T1, T2\/FLAIR, and SWI signal abnormalities was reviewed. Response rates to various therapies, including immunotherapy, were evaluated in the presence of neuroimaging abnormalities.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>In total, 74 individuals (35%) had either T2\/FLAIR and\/or SWI signal abnormality compared to 14 individuals (12%) without DSRD (<jats:italic>p<\/jats:italic>\u2009&lt;\u20090.001, 95%CI: 2.18\u20137.63). T2\/FLAIR signal abnormalities were not appreciated more frequently in individuals with DSRD (14%, 30\/210) than in the control cohort (9%, 11\/119) (<jats:italic>p<\/jats:italic>\u2009=\u20090.18, OR: 1.63, 95%CI: 0.79\u20133.40). SWI signal abnormalities were appreciated at a higher frequency in individuals with DSRD (24%, 51\/210) compared to the control cohort (4%, 5\/119) (<jats:italic>p<\/jats:italic>\u2009&lt;\u20090.001, OR: 7.31, 95%CI: 2.83\u201318.90). T2\/FLAIR signal abnormalities were localized to the frontal (40%, 12\/30) and parietal lobes (37%, 11\/30). SWI signal abnormalities were predominantly in the bilateral basal ganglia (94%, 49\/52). Individuals with DSRD and the presence of T2\/FLAIR and\/or SWI signal abnormalities were much more likely to respond to immunotherapy (<jats:italic>p<\/jats:italic>\u2009&lt;\u20090.001, OR: 8.42. 95%CI: 3.78\u201318.76) and less likely to respond to benzodiazepines (<jats:italic>p<\/jats:italic>\u2009=\u20090.01, OR: 0.45, 95%CI: 0.25\u20130.83), antipsychotics (<jats:italic>p<\/jats:italic>\u2009&lt;\u20090.001, OR: 0.28, 95%CI: 0.11\u20130.55), or electroconvulsive therapy (<jats:italic>p<\/jats:italic>\u2009&lt;\u20090.001, OR: 0.12; 95%CI: 0.02\u20130.78) compared to individuals without these neuroimaging abnormalities.<\/jats:p><\/jats:sec><jats:sec><jats:title>Interpretation<\/jats:title><jats:p>This study indicates that in individuals diagnosed with DSRD, T2\/FLAIR, and SWI signal abnormalities are more common than previously thought and predict response to immunotherapy.<\/jats:p><\/jats:sec>","DOI":"10.1002\/acn3.52023","type":"journal-article","created":{"date-parts":[[2024,2,20]],"date-time":"2024-02-20T08:32:00Z","timestamp":1708417920000},"page":"1034-1045","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["Neuroimaging abnormalities associated with immunotherapy responsiveness in Down syndrome regression disorder"],"prefix":"10.1002","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8350-8234","authenticated-orcid":false,"given":"Jonathan D.","family":"Santoro","sequence":"first","affiliation":[{"name":"Division of Neuroimmunology, Department of Pediatrics Children's Hospital Los Angeles  Los Angeles California USA"},{"name":"Department of Neurology Keck School of Medicine of the University of Southern California  Los Angeles California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mellad 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