ArticleAnnals of clinical and translational neurology2024
Neuroimaging abnormalities associated with immunotherapy responsiveness in Down syndrome regression disorder.
Article in Annals of clinical and translational neurology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 11 citations in OpenAlex.
- Immune dysregulation in children with Down syndrome: clinical implications and emerging therapies.Current opinion in rheumatology · 2026Review
- A challenging case of Down syndrome regression disorder.Arquivos de neuro-psiquiatria · 2026Article
- Electroencephalographic Normalization as a Biomarker of Clinical Recovery in Down Syndrome Regression Disorder.Annals of clinical and translational neurology · 2026Article
- Promoting Research Excellence in Down Syndrome: Proceedings of the 5th International Conference of the Trisomy 21 Research Society.Neuromolecular medicine · 2026Article
- A Comparative Effectiveness Study of Lorazepam or IVIg Versus no Treatment for Down Syndrome Regression Disorder.Neurology and therapy · 2026Article
- Serum and cerebral folate are normal in Down Syndrome Regression Disorder.Molecular autism · 2026Observational
- Immunosuppression in down syndrome regression disorder: a prospective observational cohort study.Brain communications · 2026Article
- Cerebral Blood Flow Abnormalities in Down Syndrome Regression Disorder.Pediatric neurology · 2025Observational
- Accelerated Tempo of Cortical Neurogenesis in Down Syndrome.bioRxiv : the preprint server for biology · 2025Article
- Charting the future: current and future directions in translational research for individuals with Down syndrome.Journal of neurodevelopmental disorders · 2025Review
- Evidence of blood-brain barrier dysfunction and CSF immunoglobulin synthesis in Down Syndrome Regression Disorder.Annals of clinical and translational neurology · 2025Article
- Cerebral/Cortical visual impairment (CVI) in Down syndrome: a case series.Frontiers in human neuroscience · 2025Article
- Down Syndrome and Autoimmune Disease.Clinical reviews in allergy & immunology · 2024Review
- Case report: Down syndrome regression disorder, catatonia, and psychiatric and immunomodulatory interventions.Frontiers in psychiatry · 2024Article
Corrections and comments
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Authors and funding
19 authors at 10 institutions in 2 countries.
Funding
Abstract
objectiveTo determine the prevalence of neuroimaging abnormalities in individuals with Down syndrome regression disorder (DSRD) and evaluate if neuroimaging abnormalities were predictive of therapeutic responses.
methodsA multicenter, retrospective, case-control 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 10-30 years 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.
resultsIn total, 74 individuals (35%) had either T2/FLAIR and/or SWI signal abnormality compared to 14 individuals (12%) without DSRD (p < 0.001, 95%CI: 2.18-7.63). T2/FLAIR signal abnormalities were not appreciated more frequently in individuals with DSRD (14%, 30/210) than in the control cohort (9%, 11/119) (p = 0.18, OR: 1.63, 95%CI: 0.79-3.40). SWI signal abnormalities were appreciated at a higher frequency in individuals with DSRD (24%, 51/210) compared to the control cohort (4%, 5/119) (p < 0.001, OR: 7.31, 95%CI: 2.83-18.90). 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 (p < 0.001, OR: 8.42. 95%CI: 3.78-18.76) and less likely to respond to benzodiazepines (p = 0.01, OR: 0.45, 95%CI: 0.25-0.83), antipsychotics (p < 0.001, OR: 0.28, 95%CI: 0.11-0.55), or electroconvulsive therapy (p < 0.001, OR: 0.12; 95%CI: 0.02-0.78) compared to individuals without these neuroimaging abnormalities.
interpretationThis 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.
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