ArticleJournal of neurodevelopmental disorders2022
Evidence of neuroinflammation and immunotherapy responsiveness in individuals with down syndrome regression disorder.
Article in Journal of neurodevelopmental disorders, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers, 1 of them a synthesis that pooled it.
What it found
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Who cites it
34 citing papers in PubMed, 1 synthesis or guideline pooled it, 51 citations in OpenAlex.
- Genetics of catatonia: a systematic review of case reports and a gene pathway analysis.European psychiatry : the journal of the Association of European Psychiatrists · 2025Pooled it
- Clinical considerations for immune dysregulation and immunodeficiency in Down syndrome.Journal of human immunity · 2026Review
- Defining and Measuring Developmental Regression During Childhood: A Scoping Review.Autism research : official journal of the International Society for Autism Research · 2026Article
- A challenging case of Down syndrome regression disorder.Arquivos de neuro-psiquiatria · 2026Article
- How I Treat: Immune dysregulation in Down syndrome.Journal of human immunity · 2026Review
- Electroencephalographic Normalization as a Biomarker of Clinical Recovery in Down Syndrome Regression Disorder.Annals of clinical and translational neurology · 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
- Monogenic Mimics of Neuroinflammatory Phenotypes in Children and Young Adults: An Evolving Landscape.Neurology. Genetics · 2025Review
- Symptoms of Catatonia Observed in Down Syndrome Regressive Disorder: A Retrospective Analysis.Journal of autism and developmental disorders · 2025Article
- Cerebral Blood Flow Abnormalities in Down Syndrome Regression Disorder.Pediatric neurology · 2025Observational
- Neurological findings in a cohort of adults with down syndrome.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025Article
- Molecular Insights into Neurological Regression with a Focus on Rett Syndrome-A Narrative Review.International journal of molecular sciences · 2025Review
- Alternative Diagnoses in the Work Up of Down Syndrome Regression Disorder.Journal of autism and developmental disorders · 2025Article
- Evidence of blood-brain barrier dysfunction and CSF immunoglobulin synthesis in Down Syndrome Regression Disorder.Annals of clinical and translational neurology · 2025Article
- Causes of Down syndrome regression disorder: a scoping review.Dementia & neuropsychologia · 2025Article
- Genetic markers involved in neuroinflammation in Down syndrome: a systematic review.Dementia & neuropsychologia · 2025Article
- Diagnostic abnormalities, disease severity and immunotherapy responsiveness in individuals with Down syndrome regression disorder.Scientific reports · 2024Article
- JAK inhibition in Down Syndrome Regression Disorder.Journal of neuroimmunology · 2024Article
Corrections and comments
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Authors and funding
17 authors at 12 institutions in 1 country.
Funding
Abstract
backgroundDown syndrome regression disorder is a symptom cluster consisting of neuropsychiatric regression without cause. This study evaluated the incidence of neurodiagnostic abnormalities in individuals with Down syndrome regression disorder and determined if abnormalities are indicative of responses to therapeutic intervention.
methodsA retrospective, multi-center, case-control study was performed. Patients were required to have subacute onset and the presence of four of five symptom groups present (cognitive decline, expressive language, sleep derangement, loss of ability to perform activities of daily living, and/or a new movement disorder) and no other explanation for symptoms.
resultsIndividuals with Down syndrome regression disorder were comparable to a cohort of individuals with only Down syndrome although had higher rates of autoimmune disease (p = 0.02, 95%CI 1.04-1.75). Neurodiagnostic abnormalities were found on EEG (n = 19, 26%), neuroimaging (n = 16, 22%), and CSF (n = 9, 17%). Pleocytosis was appreciated in five cases, elevated total protein in nine, elevated IgG index in seven, and oligoclonal bands in two. Testing within 2 years of symptom onset was more likely to have neurodiagnostic abnormalities (p = 0.01, 95%CI 1.64-37.06). In individuals with neurodiagnostic abnormalities, immunotherapy was nearly four times more likely to have a therapeutic effect than in those without neurodiagnostic abnormalities (OR 4.11, 95%CI 1.88-9.02). In those with normal neurodiagnostic studies (n = 43), IVIg was effective in 14 of 17 (82%) patients as well although other immunotherapies were uniformly ineffective.
conclusionsThis study reports the novel presence of neurodiagnostic testing abnormalities in individuals with Down syndrome regression disorder, providing credence to this symptom cluster potentially being of neurologic and/or neuroimmunologic etiology.
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