2f:I[703058,["/_next/static/immutable/chunks/3bhq_5eh1d760.js","/_next/static/immutable/chunks/1855-ogyi8eh4.js","/_next/static/immutable/chunks/2pfsjpn6k6zlg.js","/_next/static/immutable/chunks/26c7v3_3uwnwu.js","/_next/static/immutable/chunks/25a3ozcrvi1ff.js","/_next/static/immutable/chunks/2r4wx50nvjh_4.js","/_next/static/immutable/chunks/23fsw06hsi5b1.js","/_next/static/immutable/chunks/06_yt270h41rg.js","/_next/static/immutable/chunks/3ezsiz-7shkna.js","/_next/static/immutable/chunks/20x2y96ldu5wx.js","/_next/static/immutable/chunks/2lxntcm3pd1_h.js","/_next/static/immutable/chunks/00dgco8irq3jw.js","/_next/static/immutable/chunks/00nwe-kq0rboc.js","/_next/static/immutable/chunks/2051ffx3xzio9.js"],"PaperListPageClient"] 30:T840,Abstract Background It is unclear whether individuals with Down syndrome (DS) are at increased risk of kidney disease. This study aims to examine the risk of acute kidney injury (AKI) and chronic kidney disease (CKD) in individuals with DS compared to the general population. Methods Using the Danish Cytogenetic Central Registry, we identified a population-based cohort of individuals with genetically confirmed DS in Denmark between 1961 and 2021. For each individual with DS, we sampled 10 age-and-sex-matched individuals without DS from the general Danish population. We used laboratory data on plasma creatinine from the 1990s until 2024 to assess AKI and CKD and computed the cumulative incidence (risk) of AKI and CKD by age. Furthermore, we estimated the risk of AKI and CKD in individuals without congenital heart disease (CHD). Results We identified 2,815 individuals with DS and available laboratory data on plasma creatinine measurements. Comparing individuals with DS to the matched cohort, the risk of AKI was 28.9% vs. 1.4% at age 20, 32.8% vs. 5.3% at age 40, and 48.6% vs. 23.8% at age 70. The risk of CKD was 1.2% vs. 0.1% at age 20, 3.9% vs. 0.4% at age 40, and 23.2% vs. 13.8% at age 70. For individuals without CHD, the risk of AKI and CKD remained considerably higher for individuals with DS than for matched individuals. Conclusions Individuals with DS were at increased risk of both AKI and CKD compared to the general population. Kidney disease should be considered during clinical follow-up of DS. 31:T47a,Alzheimer's disease causes progressive cognitive decline, yet some individuals remain resilient despite developing hallmark pathology. A subset of people with Down syndrome (DS), the most common genetic cause of Alzheimer's disease, demonstrates such resilience. Given the elevated risk of hematopoietic mutations in DS, we hypothesize that certain variants may confer microglial resilience. Here, we introduce a myeloid DS-linked CSF2RB A455D mutation into human pluripotent stem cell-derived microglia from both donors with DS and healthy donors and study their function in 4-10-month-old chimeric mice. We find that this mutation suppresses type I interferon signaling in response to tau pathology, reducing inflammation while enhancing phagocytosis, thereby ameliorating microglial senescence. CSF2RB A455D-expressing microglia form a unique protective subpopulation and preserve neuronal functions. Importantly, they replace diseased wild-type microglia after tau exposure. These findings provide proof of concept that engineered human microglia can enhance resilience against tauopathy, opening avenues for microglial replacement therapies.25:[[["$","script","0",{"type":"application/ld+json","dangerouslySetInnerHTML":{"__html":"{\"@context\":\"https://schema.org\",\"@type\":\"CollectionPage\",\"name\":\"Down Syndrome: condition Research & Clinical Takeaways\",\"description\":\"Explore peer-reviewed papers on Down Syndrome (condition). Clinician-written summaries and actionable practice insights. Updated daily.\",\"url\":\"https://www.reachrx.ai/hub/tag/condition/Down%20Syndrome\",\"breadcrumb\":{\"@type\":\"BreadcrumbList\",\"itemListElement\":[{\"@type\":\"ListItem\",\"position\":1,\"name\":\"Home\",\"item\":\"https://www.reachrx.ai\"},{\"@type\":\"ListItem\",\"position\":2,\"name\":\"Research Hub\",\"item\":\"https://www.reachrx.ai/hub\"},{\"@type\":\"ListItem\",\"position\":3,\"name\":\"Conditions\",\"item\":\"https://www.reachrx.ai/hub/tag/condition\"},{\"@type\":\"ListItem\",\"position\":4,\"name\":\"Down Syndrome\",\"item\":\"https://www.reachrx.ai/hub/tag/condition/Down%20Syndrome\"}]}}"}}]],["$","$L2f",null,{"title":"Down Syndrome: Research & Clinical Takeaways","description":"Discover peer-reviewed research on Down Syndrome with concise clinician summaries and next-step guidance.","papers":[{"doi":"10.1080/21645515.2026.2670839","pmid":"42223472","title":"T-cell responses to primary SARS-CoV-2 vaccination in Down syndrome – From childhood to adulthood","journal_title":"Human Vaccines & Immunotherapeutics","journal_issn":"2164-5515","published_at":"2026-06-01T00:00:00.000Z","url":"https://doi.org/10.1080/21645515.2026.2670839","source_score":4,"is_retracted":false,"is_open_access":true,"raw_metadata":{"pubmed":true,"crossref":true,"unpaywall":true},"created_at":"2026-06-08T13:46:38.802Z","updated_at":"2026-06-08T13:46:38.802Z","tags":[{"paper_doi":"10.1080/21645515.2026.2670839","tag_type":"age_group","value":"mixed","value_numeric":null},{"paper_doi":"10.1080/21645515.2026.2670839","tag_type":"brand","value":"Comirnaty","value_numeric":null},{"paper_doi":"10.1080/21645515.2026.2670839","tag_type":"brand","value":"Spikevax","value_numeric":null},{"paper_doi":"10.1080/21645515.2026.2670839","tag_type":"category","value":"Immunology","value_numeric":null},{"paper_doi":"10.1080/21645515.2026.2670839","tag_type":"condition","value":"COVID-19","value_numeric":null},{"paper_doi":"10.1080/21645515.2026.2670839","tag_type":"condition","value":"Down Syndrome","value_numeric":null},{"paper_doi":"10.1080/21645515.2026.2670839","tag_type":"generic","value":"BNT162b2","value_numeric":null},{"paper_doi":"10.1080/21645515.2026.2670839","tag_type":"generic","value":"mRNA-1273","value_numeric":null},{"paper_doi":"10.1080/21645515.2026.2670839","tag_type":"impact_flag","value":"safety_signal","value_numeric":null},{"paper_doi":"10.1080/21645515.2026.2670839","tag_type":"level_of_evidence","value":"3","value_numeric":null},{"paper_doi":"10.1080/21645515.2026.2670839","tag_type":"modality","value":"mRNA Vaccine","value_numeric":null},{"paper_doi":"10.1080/21645515.2026.2670839","tag_type":"sample_size","value":"n=55","value_numeric":55},{"paper_doi":"10.1080/21645515.2026.2670839","tag_type":"sex","value":"mixed","value_numeric":null},{"paper_doi":"10.1080/21645515.2026.2670839","tag_type":"study_design","value":"Prospective Observational Cohort Study","value_numeric":null},{"paper_doi":"10.1080/21645515.2026.2670839","tag_type":"warning","value":"The impact_flag 'safety_signal' was applied because the reduced immune response in a vulnerable pediatric population has direct vaccination strategy implications, though the study does not report adverse events.","value_numeric":null},{"paper_doi":"10.1080/21645515.2026.2670839","tag_type":"warning","value":"The largest N reported is 55 (IFNγ cohort); the AIM assay cohort is N=40. Tags reflect the larger cohort, but subgroup analyses are based on smaller numbers.","value_numeric":null},{"paper_doi":"10.1080/21645515.2026.2670839","tag_type":"warning","value":"The sample size for the 5–11-year age group is very small (N=8), so effect estimates should be interpreted cautiously.","value_numeric":null},{"paper_doi":"10.1080/21645515.2026.2670839","tag_type":"warning","value":"The study includes both Pfizer (BNT162b2) and Moderna (mRNA-1273) recipients without separate subgroup analyses by vaccine brand, which may introduce heterogeneity.","value_numeric":null}],"summaries":{"what_studied":"This prospective observational cohort study (PRIDE study, NCT05145348) evaluated vaccine-induced T-cell responses in individuals with Down syndrome (DS) aged 3–74 years after primary mRNA SARS-CoV-2 vaccination (Pfizer or Moderna), comparing CD4+/CD8+ T-cell re-activation (AIM assay, N=40) and IFNγ production (IGRA, N=55) across pediatric and adult age groups approximately 28 days post-primary vaccination.","key_result":"Children with DS aged 5–11 years had significantly lower re-activation of SARS-CoV-2-specific CD4+ T cells (stimulation index and percentage AIM+CD4+) compared to adolescents aged 12–17 years; no significant difference was found between adolescents and adults. IFNγ production was similar across all age groups. A sensitivity analysis excluding previously SARS-CoV-2-infected individuals confirmed lower CD4+ T-cell re-activation in 5–11-year-olds vs. adolescents (p=.0325).","limitations":"- Very small sample in the 5–11-year age group (N=8), of whom 3 had prior SARS-CoV-2 infection, limiting comparative power.\n- No healthy pediatric control group was available, as most children were not vaccinated during the study period.\n- Study cannot distinguish whether reduced T-cell re-activation is due to lower vaccine dose, inherent immune dysregulation in DS, or both.","practice_takeaway":"Children with DS aged 5–11 years may mount a weaker T-cell response to the standard lower-dose (10 µg) mRNA COVID-19 vaccine than older DS patients—mirroring previously observed lower antibody titers—suggesting this group may benefit from booster doses or age-equivalent (adolescent/adult) vaccine dosing. Clinicians should not assume vaccine immunogenicity data from healthy children applies to children with DS."}},{"doi":"10.1192/bjo.2026.11036","pmid":"42187194","title":"Prevalence of mental disorders in people with intellectual disabilities across the lifespan: umbrella review","journal_title":"BJPsych Open","journal_issn":"2056-4724","published_at":"2026-05-26T00:00:00.000Z","url":"https://doi.org/10.1192/bjo.2026.11036","source_score":21,"is_retracted":false,"is_open_access":true,"raw_metadata":{"pubmed":true,"crossref":true,"unpaywall":true},"created_at":"2026-05-30T13:22:52.429Z","updated_at":"2026-05-30T13:22:52.429Z","tags":[{"paper_doi":"10.1192/bjo.2026.11036","tag_type":"age_group","value":"mixed","value_numeric":null},{"paper_doi":"10.1192/bjo.2026.11036","tag_type":"category","value":"Psychiatry","value_numeric":null},{"paper_doi":"10.1192/bjo.2026.11036","tag_type":"condition","value":"22q11.2 Deletion Syndrome","value_numeric":null},{"paper_doi":"10.1192/bjo.2026.11036","tag_type":"condition","value":"Anxiety Disorder","value_numeric":null},{"paper_doi":"10.1192/bjo.2026.11036","tag_type":"condition","value":"Autism Spectrum Disorder","value_numeric":null},{"paper_doi":"10.1192/bjo.2026.11036","tag_type":"condition","value":"Depressive Disorder","value_numeric":null},{"paper_doi":"10.1192/bjo.2026.11036","tag_type":"condition","value":"Down Syndrome","value_numeric":null},{"paper_doi":"10.1192/bjo.2026.11036","tag_type":"condition","value":"Fragile-X Syndrome","value_numeric":null},{"paper_doi":"10.1192/bjo.2026.11036","tag_type":"condition","value":"Intellectual Disability","value_numeric":null},{"paper_doi":"10.1192/bjo.2026.11036","tag_type":"condition","value":"Obsessive-Compulsive Disorder","value_numeric":null},{"paper_doi":"10.1192/bjo.2026.11036","tag_type":"condition","value":"Personality Disorder","value_numeric":null},{"paper_doi":"10.1192/bjo.2026.11036","tag_type":"condition","value":"Post-Traumatic Stress Disorder","value_numeric":null},{"paper_doi":"10.1192/bjo.2026.11036","tag_type":"condition","value":"Schizophrenia Spectrum Disorder","value_numeric":null},{"paper_doi":"10.1192/bjo.2026.11036","tag_type":"condition","value":"Williams Syndrome","value_numeric":null},{"paper_doi":"10.1192/bjo.2026.11036","tag_type":"impact_flag","value":"confirms_prior","value_numeric":null},{"paper_doi":"10.1192/bjo.2026.11036","tag_type":"level_of_evidence","value":"3","value_numeric":null},{"paper_doi":"10.1192/bjo.2026.11036","tag_type":"sample_size","value":"n=248606","value_numeric":248606},{"paper_doi":"10.1192/bjo.2026.11036","tag_type":"sex","value":"mixed","value_numeric":null},{"paper_doi":"10.1192/bjo.2026.11036","tag_type":"study_design","value":"Umbrella Review","value_numeric":null},{"paper_doi":"10.1192/bjo.2026.11036","tag_type":"warning","value":"Level of evidence assigned as 3 (systematic review of lower-quality studies); all but one included review was rated low or critically low on AMSTAR-2, which limits confidence in pooled estimates.","value_numeric":null},{"paper_doi":"10.1192/bjo.2026.11036","tag_type":"warning","value":"Prevalence comparisons with the general population use mixed timeframes (point, period, lifetime) across studies, limiting direct comparability.","value_numeric":null},{"paper_doi":"10.1192/bjo.2026.11036","tag_type":"warning","value":"Sample size reported is the unadjusted sum across meta-analyses only; overlap with primary studies across reviews cannot be excluded and total N may be inflated.","value_numeric":null},{"paper_doi":"10.1192/bjo.2026.11036","tag_type":"warning","value":"The umbrella review did not extract or re-analyse primary-level data, so overlap between reviews could not be formally quantified.","value_numeric":null}],"summaries":{"what_studied":"This umbrella review synthesised 26 systematic reviews (7 meta-analyses, 19 narrative reviews) on the prevalence of specific mental disorders in people with intellectual disabilities (ID) across the lifespan, with or without co-occurring neurodevelopmental conditions such as autism spectrum disorder (ASD), searched up to December 2024.","key_result":"Compared with the general population, schizophrenia prevalence was 6× higher (3.55–4.80% vs. 0.3–0.7%), OCD was roughly double (2.4% vs. 1.1–1.8%), and anxiety disorders were elevated (5.4–5.5%). Mood disorders (6–7%), personality disorders, and PTSD appeared lower than in the general population, likely reflecting underdiagnosis. Anxiety was markedly high in fragile-X (49%), Williams (48%), and 22q11.2 deletion syndromes (38%). Overall quality of included reviews was low to critically low.","limitations":"- Most included reviews rated 'low' or 'critically low' on AMSTAR-2, limiting certainty in prevalence estimates.\n- Major evidence gaps exist for bipolar disorder, eating disorders, substance use disorders, and dementia; stratified data by sex, age, and ID severity are scarce.\n- Overlapping primary studies across included reviews could not be formally evaluated, and underdiagnosis is likely for several conditions (especially mood disorders and PTSD).","practice_takeaway":"Clinicians should maintain a high index of suspicion for schizophrenia, OCD, and anxiety disorders in people with ID, especially those with fragile-X, Williams, or 22q11.2 deletion syndromes. Apparent lower rates of mood disorders and PTSD likely reflect underdiagnosis rather than true lower burden, so active screening using ID-adapted tools is warranted."}},{"doi":"10.1084/jem.20251801","pmid":"42149661","title":"Identification of secondary microglial formation centers in the human fetal brain","journal_title":"Journal of Experimental Medicine","journal_issn":"0022-1007","published_at":"2026-05-18T00:00:00.000Z","url":"https://doi.org/10.1084/jem.20251801","source_score":13,"is_retracted":false,"is_open_access":true,"raw_metadata":{"pubmed":true,"crossref":true,"unpaywall":true},"created_at":"2026-05-29T13:23:18.871Z","updated_at":"2026-05-29T13:23:18.871Z","tags":[{"paper_doi":"10.1084/jem.20251801","tag_type":"age_group","value":"neonate","value_numeric":null},{"paper_doi":"10.1084/jem.20251801","tag_type":"category","value":"Immunology","value_numeric":null},{"paper_doi":"10.1084/jem.20251801","tag_type":"condition","value":"Down Syndrome","value_numeric":null},{"paper_doi":"10.1084/jem.20251801","tag_type":"condition","value":"Edwards Syndrome","value_numeric":null},{"paper_doi":"10.1084/jem.20251801","tag_type":"condition","value":"Microglial Development","value_numeric":null},{"paper_doi":"10.1084/jem.20251801","tag_type":"generic","value":"CSF-1R","value_numeric":null},{"paper_doi":"10.1084/jem.20251801","tag_type":"generic","value":"IL-34","value_numeric":null},{"paper_doi":"10.1084/jem.20251801","tag_type":"impact_flag","value":"practice_changing","value_numeric":null},{"paper_doi":"10.1084/jem.20251801","tag_type":"level_of_evidence","value":"4","value_numeric":null},{"paper_doi":"10.1084/jem.20251801","tag_type":"modality","value":"Human Cortical Organoid","value_numeric":null},{"paper_doi":"10.1084/jem.20251801","tag_type":"modality","value":"Super-Resolution Microscopy","value_numeric":null},{"paper_doi":"10.1084/jem.20251801","tag_type":"study_design","value":"Observational Study with Ex Vivo Imaging and Organoid Modeling","value_numeric":null},{"paper_doi":"10.1084/jem.20251801","tag_type":"warning","value":"Age group tagged as 'neonate' is an approximation — the study covers 5–22 gestational weeks (fetal/prenatal), which falls outside standard postnatal age-group categories; no exact postnatal age group tag exists for fetal specimens.","value_numeric":null},{"paper_doi":"10.1084/jem.20251801","tag_type":"warning","value":"Full page text content was not extracted from the PDF; all structured data is derived solely from the abstract. Sample sizes for fetal brain specimens are not specified in the abstract, limiting confidence in tag accuracy.","value_numeric":null},{"paper_doi":"10.1084/jem.20251801","tag_type":"warning","value":"Study design is described as observational/descriptive with organoid validation; it does not fit neatly into a single canonical design label.","value_numeric":null},{"paper_doi":"10.1084/jem.20251801","tag_type":"warning","value":"The 'impact_flag' of practice_changing reflects a novel foundational discovery in neurodevelopmental biology; direct clinical translation is not yet established.","value_numeric":null}],"summaries":{"what_studied":"This study examined how microglia rapidly expand in fast-growing human fetal brains (5–22 gestational weeks), using thick-section imaging and super-resolution scanning to identify and characterize specialized proliferative microglial structures, including in Down syndrome (DS) and Edwards syndrome (ES) fetal brains and chimeric microglia-human cortical organoids.","key_result":"A large proliferative microglial aggregate (~2.129 mm²) was found near the lateral ganglionic eminence after 12.5 gestational weeks, termed the secondary microglial formation center (SMFC). Ki67+ (proliferating) microglia within the SMFC reached 26.65% vs. 6.32% in scattered microglia; the SMFC was markedly expanded in DS (4.767 mm², Ki67+ 38.9%) and ES (3.437 mm², Ki67+ 46.3%) brains. The SMFC was IL-34– and CSF-1R–dependent and recapitulated in cortical organoid models.","limitations":"The study is largely observational and descriptive; causal mechanisms driving SMFC formation are inferred from organoid models rather than direct in vivo manipulation. Full-text page content was not available for detailed methodological review, limiting assessment of sample sizes and controls.","practice_takeaway":"The SMFC represents a previously unrecognized site of microglial proliferation in human fetal brain development, particularly amplified in trisomy disorders. Clinicians and researchers studying neurodevelopmental conditions like Down syndrome should consider aberrant microglial expansion as a potential contributor to altered brain development."}},{"doi":"10.1016/j.earlhumdev.2026.106583","pmid":"42143978","title":"Beyond “low tone”. What do the General Movements Assessment and Motor Optimality Score tell us about infants with developmental central hypotonia? A scoping review","journal_title":"Early Human Development","journal_issn":"0378-3782","published_at":"2026-05-14T00:00:00.000Z","url":"https://doi.org/10.1016/j.earlhumdev.2026.106583","source_score":4,"is_retracted":false,"is_open_access":true,"raw_metadata":{"pubmed":true,"crossref":true,"unpaywall":true},"created_at":"2026-05-21T13:20:57.658Z","updated_at":"2026-05-21T13:20:57.658Z","tags":[{"paper_doi":"10.1016/j.earlhumdev.2026.106583","tag_type":"age_group","value":"infant","value_numeric":null},{"paper_doi":"10.1016/j.earlhumdev.2026.106583","tag_type":"category","value":"Obstetrics & Gynecology","value_numeric":null},{"paper_doi":"10.1016/j.earlhumdev.2026.106583","tag_type":"condition","value":"Cornelia de Lange Syndrome","value_numeric":null},{"paper_doi":"10.1016/j.earlhumdev.2026.106583","tag_type":"condition","value":"Cri du Chat Syndrome","value_numeric":null},{"paper_doi":"10.1016/j.earlhumdev.2026.106583","tag_type":"condition","value":"Developmental Central Hypotonia","value_numeric":null},{"paper_doi":"10.1016/j.earlhumdev.2026.106583","tag_type":"condition","value":"Down Syndrome","value_numeric":null},{"paper_doi":"10.1016/j.earlhumdev.2026.106583","tag_type":"condition","value":"Hypotonic Cerebral Palsy","value_numeric":null},{"paper_doi":"10.1016/j.earlhumdev.2026.106583","tag_type":"condition","value":"Prader-Willi Syndrome","value_numeric":null},{"paper_doi":"10.1016/j.earlhumdev.2026.106583","tag_type":"condition","value":"Smith-Magenis Syndrome","value_numeric":null},{"paper_doi":"10.1016/j.earlhumdev.2026.106583","tag_type":"condition","value":"West Syndrome","value_numeric":null},{"paper_doi":"10.1016/j.earlhumdev.2026.106583","tag_type":"impact_flag","value":"limited_evidence","value_numeric":null},{"paper_doi":"10.1016/j.earlhumdev.2026.106583","tag_type":"level_of_evidence","value":"5","value_numeric":null},{"paper_doi":"10.1016/j.earlhumdev.2026.106583","tag_type":"modality","value":"Neurodevelopmental Assessment","value_numeric":null},{"paper_doi":"10.1016/j.earlhumdev.2026.106583","tag_type":"sample_size","value":"n=14","value_numeric":14},{"paper_doi":"10.1016/j.earlhumdev.2026.106583","tag_type":"study_design","value":"Scoping Review","value_numeric":null},{"paper_doi":"10.1016/j.earlhumdev.2026.106583","tag_type":"warning","value":"Sample size tag reflects the number of included studies (n=14), not a participant-level N, as total participant count was not reported in the abstract.","value_numeric":null},{"paper_doi":"10.1016/j.earlhumdev.2026.106583","tag_type":"warning","value":"Study design classified as 'Scoping Review' rather than 'Systematic Review' as stated by authors; no meta-analysis was performed.","value_numeric":null},{"paper_doi":"10.1016/j.earlhumdev.2026.106583","tag_type":"warning","value":"The 12 diagnoses/etiologies varied widely; pooled conclusions about 'developmental central hypotonia' as a single entity should be interpreted cautiously given clinical heterogeneity.","value_numeric":null}],"summaries":{"what_studied":"A scoping review mapping how Prechtl's General Movements Assessment (GMA) and the Motor Optimality Score-Revised (MOS-R) have been applied in infants with developmental central hypotonia (≤5 months corrected age), covering 14 studies across 12 diagnoses including Down syndrome, Prader-Willi syndrome, hypotonic cerebral palsy, and others.","key_result":"Across all conditions, spontaneous motor behavior showed reduced variability and complexity, a below-age-expected repertoire, atypical posture, and predominantly slow or monotonous movement; atypical fidgety patterns were frequent, though fidgety movements could still be present in Down syndrome and Prader-Willi syndrome infants.","limitations":"Most included studies were small and descriptive; evidence was heterogeneous across 12 different diagnoses; MOS-R subdomain reporting was not standardized across studies, limiting cross-study comparisons.","practice_takeaway":"GMA and MOS-R are feasible and reliable tools to phenotype early motor patterns in infants with developmental central hypotonia and can strengthen detection and surveillance pathways. Clinicians should consider integrating these tools into early monitoring, while awaiting prospective longitudinal data on their association with functional outcomes and responsiveness to early intervention."}},{"doi":"10.1093/ckj/sfaf402","pmid":null,"title":"Acute kidney injury and chronic kidney disease in individuals with Down syndrome: A nationwide cohort study","journal_title":"Clinical Kidney Journal","journal_issn":"2048-8505","published_at":"2025-12-23T00:00:00.000Z","url":"https://doi.org/10.1093/ckj/sfaf402","source_score":36,"is_retracted":false,"is_open_access":true,"raw_metadata":{"ooir":{"day":"2025-12-25","doi":"10.1093/ckj/sfaf402","days":"30","issn":"2048-8505","rank":"4","field":"Clinical Medicine","score":"36","category":"Urology & Nephrology","categories":["Urology & Nephrology"],"_categories":["Urology & Nephrology"]},"pubmed":null,"crossref":{"DOI":"10.1093/ckj/sfaf402","URL":"https://doi.org/10.1093/ckj/sfaf402","ISSN":["2048-8505","2048-8513"],"link":[{"URL":"https://academic.oup.com/ckj/advance-article-pdf/doi/10.1093/ckj/sfaf402/66116033/sfaf402.pdf","content-type":"application/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https://academic.oup.com/ckj/advance-article-pdf/doi/10.1093/ckj/sfaf402/66116033/sfaf402.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"page":null,"type":"journal-article","issue":null,"score":1,"title":["Acute kidney injury and chronic kidney disease in individuals with Down syndrome: A nationwide cohort study"],"author":[{"given":"Freja Leonore Uhd","family":"Weldingh","sequence":"first","affiliation":[{"name":"Aarhus University Hospital Department of Clinical Epidemiology, , Aarhus ,"},{"name":"Aarhus University Department of Clinical Medicine, , Aarhus ,"},{"name":"Aarhus University Hospital Department of Obstetrics and Gynaecology, , Aarhus ,"}]},{"given":"Morten Krogh","family":"Herlin","sequence":"additional","affiliation":[{"name":"Aarhus University Department of Clinical Medicine, , Aarhus ,"},{"name":"Aarhus University Hospital Department of Clinical Genetics, , Aarhus ,"}]},{"given":"Ellen Hollands","family":"Steffensen","sequence":"additional","affiliation":[{"name":"Aarhus University Department of Clinical Medicine, , Aarhus ,"},{"name":"Aalborg University Hospital Department of Clinical Genetics, , Aalborg ,"},{"name":"Center for Fetal Diagnostics, Aarhus University , Aarhus ,"}]},{"given":"Uffe","family":"Heide-Jørgensen","sequence":"additional","affiliation":[{"name":"Aarhus University Hospital Department of Clinical Epidemiology, , Aarhus ,"},{"name":"Aarhus University Department of Clinical Medicine, , Aarhus ,"}]},{"given":"Ida","family":"Vogel","sequence":"additional","affiliation":[{"name":"Aarhus University Department of Clinical 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Analyses also examined risks among individuals without congenital heart disease (CHD).","key_result":"Among 2,815 individuals with DS with creatinine data, the risk of AKI (DS vs matched) was 28.9% vs 1.4% at age 20, 32.8% vs 5.3% at age 40, and 48.6% vs 23.8% at age 70. The risk of CKD (DS vs matched) was 1.2% vs 0.1% at age 20, 3.9% vs 0.4% at age 40, and 23.2% vs 13.8% at age 70; risks remained considerably higher in DS even without CHD.","limitations":"Inclusion required available plasma creatinine data, potentially selecting a subset of the DS population. The comparator cohort was matched only on age and sex. Only cumulative risks by age are reported here; no additional effect measures or event counts are provided in the abstract.","practice_takeaway":"People with Down syndrome have higher observed risks of AKI and CKD across the lifespan than age- and sex-matched peers, including those without CHD. 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