ArticleRMD open2019
Arthropathy of Down syndrome: an under-diagnosed inflammatory joint disease that warrants a name change.
Article in RMD open, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
18 citing papers in PubMed, 35 citations in OpenAlex.
- 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
- Down Syndrome and Autoimmune Disease.Clinical reviews in allergy & immunology · 2024Review
- Paediatric syndromic scoliosis: proceedings of the half-day course at the 57th annual meeting of the Scoliosis Research Society.Spine deformity · 2024Review
- Assessing Uveitis Risk following Pediatric Down Syndrome Diagnosis: A TriNetX Database Study.Medicina (Kaunas, Lithuania) · 2024Article
- Characterization of autoimmune eye disease in association with Down's syndrome.Eye (London, England) · 2024Article
- Pain Management in the Most Vulnerable Intellectual Disability: A Review.Pain and therapy · 2023Review
- Characterization of autoimmune eye disease in association with Down's Syndrome.Research square · 2023Article
- FRTX-02, a selective and potent inhibitor of DYRK1A, modulates inflammatory pathways in mouse models of psoriasis and atopic dermatitis.Journal of translational autoimmunity · 2023Article
- Case report: Prader-Willi syndrome and inflammatory arthritis-An important consideration.Frontiers in pediatrics · 2023Article
- Down Syndrome-Associated Arthritis (DA): Diagnostic and Management Challenges.Pediatric health, medicine and therapeutics · 2022Review
- Functional genomics atlas of synovial fibroblasts defining rheumatoid arthritis heritability.Genome biology · 2021Article
- Interferon-Driven Immune Dysregulation in Down Syndrome: A Review of the Evidence.Journal of inflammation research · 2021Review
- Brief Musculoskeletal Screen and Patient Education for Down Syndrome-Associated Arthritis.Global pediatric health · 2021Article
- Assessment of Down Syndrome-Associated Arthritis: A Survey of Down Syndrome Clinic Providers.Global pediatric health · 2021Article
- JAK1 Inhibition Blocks Lethal Immune Hypersensitivity in a Mouse Model of Down Syndrome.Cell reports · 2020Article
- Inborn Errors of Adaptive Immunity in Down Syndrome.Journal of clinical immunology · 2020Review
- Assessment and treatment of Down syndrome-associated arthritis: a survey of pediatric rheumatologists.Pediatric rheumatology online journal · 2020Article
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
There is an increased incidence and prevalence of arthropathy in children with Down syndrome. However, it is rarely reported or recognised at onset, and remains under-diagnosed. Children with arthropathy of Down syndrome (A-DS) are presenting with significant joint damage and disability at diagnosis. Objective: To identify undiagnosed cases of A-DS and document time to diagnosis. Also to describe clinical, laboratory and radiological features of A-DS at diagnosis. Methodology: Children with Down syndrome (DS) (0-21 years) were invited to attend a musculoskeletal screening clinic. A second physician at a further clinic confirmed suspected cases of A-DS. Investigations and treatment were instigated as per normal clinical practice for Juvenile idiopathic arthritis (JIA). Data on a convenience sample of 21 newly diagnosed children with JIA was collected to create a comparison group. Results: Over an 18-month period, 503 children with DS were screened for arthritis and 18 new cases diagnosed. In total, 33 children were identified with A-DS (combining cases attending pre-dating commencement of the study and those referred to our centre during the study period). This suggests prevalence of A-DS is 20/1000. A significant delay in diagnosis of A-DS was observed. The majority of children presented with polyarticular-rheumatoid factor-negative arthritis, with predominance in the small joints of the hands and wrists. Erosive changes were reported on X-ray in a significantly greater proportion (42%) of children with A-DS than JIA (14%). MRI was used to confirm diagnosis in four cases. Conclusion: Children with DS are at increased risk of arthritis. Future research to accurately define disease pathogenesis and identify a biomarker of disease would be of benefit.
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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.