ArticleFrontiers in neurology2022
Assessment and Diagnosis of Down Syndrome Regression Disorder: International Expert Consensus.
Article in Frontiers in neurology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers, 1 of them a synthesis that pooled it.
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Who cites it
41 citing papers in PubMed, 1 synthesis or guideline pooled it, 55 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
- Trial
- Clinical considerations for immune dysregulation and immunodeficiency in Down syndrome.Journal of human immunity · 2026Review
- Immune dysregulation in children with Down syndrome: clinical implications and emerging therapies.Current opinion in rheumatology · 2026Review
- Fine Motor Development Growth Curves for Down Syndrome.Journal of child neurology · 2026Article
- Use of Electroconvulsive Therapy for Catatonia in Down Syndrome Regression Disorder: A Systematic Review, Case Series, and Analysis.Journal of autism and developmental disorders · 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
- 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
- Predicting Functional Changes in Down Syndrome During the COVID-19 Pandemic: The Role of Biopsychosocial Determinants of Health.medRxiv : the preprint server for health sciences · 2026Article
- Article
- Caregivers' Perspectives on Medical Management and Its Helpfulness in Down Syndrome.American journal of medical genetics. Part A · 2026Article
- Serum and cerebral folate are normal in Down Syndrome Regression Disorder.Molecular autism · 2026Observational
- Psychosocial stressors prior to Down Syndrome Regression Disorder: findings from two referral clinics.Frontiers in psychiatry · 2026Article
- Immunosuppression in down syndrome regression disorder: a prospective observational cohort study.Brain communications · 2026Article
- Article
- Article
- Symptoms of Catatonia Observed in Down Syndrome Regressive Disorder: A Retrospective Analysis.Journal of autism and developmental disorders · 2025Article
Corrections and comments
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Authors and funding
31 authors at 20 institutions in 4 countries.
Funding
Abstract
Objective: To develop standardization for nomenclature, diagnostic work up and diagnostic criteria for cases of neurocognitive regression in Down syndrome. Background: There are no consensus criteria for the evaluation or diagnosis of neurocognitive regression in persons with Down syndrome. As such, previously published data on this condition is relegated to smaller case series with heterogenous data sets. Lack of standardized assessment tools has slowed research in this clinical area. Methods: The authors performed a two-round traditional Delphi method survey of an international group of clinicians with experience in treating Down syndrome to develop a standardized approach to clinical care and research in this area. Thirty-eight potential panelists who had either previously published on neurocognitive regression in Down syndrome or were involved in national or international working groups on this condition were invited to participate. In total, 27 panelists (71%) represented nine medical specialties and six different countries reached agreement on preliminary standards in this disease area. Moderators developed a proposed nomenclature, diagnostic work up and diagnostic criteria based on previously published reports of regression in persons with Down syndrome. Results: During the first round of survey, agreement on nomenclature for the condition was reached with 78% of panelists agreeing to use the term Down Syndrome Regression Disorder (DSRD). Agreement on diagnostic work up and diagnostic criteria was not reach on the first round due to low agreement amongst panelists with regards to the need for neurodiagnostic testing. Following incorporation of panelist feedback, diagnostic criteria were agreed upon (96% agreement on neuroimaging, 100% agreement on bloodwork, 88% agreement on lumbar puncture, 100% agreement on urine studies, and 96% agreement on "other" studies) as were diagnostic criteria (96% agreement). Conclusions: The authors present international consensus agreement on the nomenclature, diagnostic work up, and diagnostic criteria for DSRD, providing an initial practical framework that can advance both research and clinical practices for this condition.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.