ArticlePaediatric drugs2019
Clinical Features and Treatment of Down Syndrome Arthropathy: Experience from Two US Tertiary Hospitals.
Article in Paediatric drugs, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed.
- Immune dysregulation in children with Down syndrome: clinical implications and emerging therapies.Current opinion in rheumatology · 2026Review
- Use of anti-amyloid-β monoclonal antibodies in persons with Down syndrome Alzheimer's disease.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2026Review
- Down Syndrome and Autoimmune Disease.Clinical reviews in allergy & immunology · 2024Review
- Safety and Efficacy of Biologic Medications and Janus Kinase Inhibitors in Patients with Down Syndrome: A Retrospective Cohort Study.Clinical drug investigation · 2024Article
- Parents of Children Diagnosed with Congenital Anomalies or Cerebral Palsy: Identifying Needs in Interaction with Healthcare Services.Children (Basel, Switzerland) · 2023Article
- Development of a Physical Therapy-Based Exercise Program for Adults with Down Syndrome.International journal of environmental research and public health · 2023Review
- The quality of life of parents of children with down syndrome in a tertiary care hospital: A qualitative research study at Saudi Arabia.Annals of medicine and surgery (2012) · 2022Article
- Conducting clinical trials in persons with Down syndrome: summary from the NIH INCLUDE Down syndrome clinical trials readiness working group.Journal of neurodevelopmental disorders · 2022Review
- Common Dermatologic Disorders in Down Syndrome: Systematic Review.JMIR dermatology · 2022Review
- Down Syndrome-Associated Arthritis (DA): Diagnostic and Management Challenges.Pediatric health, medicine and therapeutics · 2022Review
- Treatment of Down Syndrome-Associated Arthritis with JAK Inhibition.Case reports in rheumatology · 2022Article
- Assessment of Down Syndrome-Associated Arthritis: A Survey of Down Syndrome Clinic Providers.Global pediatric health · 2021Article
- Atypical Presentation of Systemic Arthritis in a Toddler with Down Syndrome.Case reports in pediatrics · 2021Article
- Brief Musculoskeletal Screen and Patient Education for Down Syndrome-Associated Arthritis.Global pediatric health · 2021Article
- Assessment and treatment of Down syndrome-associated arthritis: a survey of pediatric rheumatologists.Pediatric rheumatology online journal · 2020Article
- Altered Folate Homeostasis in Children with Down Syndrome: A Potential Basis for Enhanced Methotrexate Toxicity.The Journal of pediatrics · 2020Article
- Arthropathy of Down syndrome: an under-diagnosed inflammatory joint disease that warrants a name change.RMD open · 2019Article
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Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundArthropathy of Down syndrome (DA) is largely under-recognized, with an average 2-year delay in diagnosis. Most patients present with polyarthritis, and treatment has historically been challenging.
objectivesOur objective was to investigate the clinical features and treatment of DA in the largest cohort reported to date.
methodsIn a retrospective chart review at two tertiary care hospitals, International Classification of Diseases, ninth revision, clinical modification (ICD-9-CM) codes for Down syndrome (DS) and juvenile idiopathic arthritis (JIA), between 1 January 1995 and 31 December 2015, were identified and charts reviewed.
resultsIn total, 43 patients were identified, with an average (± standard deviation [SD]) follow-up period of 6 ± 4.4 years. The average age of symptom onset was 7.4 ± 3.9 years, with a mean delay of 19 ± 17 months from symptom onset to diagnosis. At diagnosis, 77% of patients had morning stiffness and 72% had abnormal laboratory values; there was an average of 15 ± 13 active joints (range 1-56). Treatment approaches varied, and there was a significant decrease in joints with active arthritis (p < 0.001), with 25% and 39% having at least one change in disease-modifying antirheumatic drug (DMARD) and biologic therapy, respectively. DMARD therapy was discontinued in 60% because of side effects, and 39% had inadequate response to first-line biologic therapy.
conclusionsDA remains under-recognized, with delays in diagnosis and extensive musculoskeletal symptoms at presentation. While DA can improve with current therapy for JIA (corticosteroids, DMARDs, biologics), barriers include medication toxicity, intolerance, and ineffectiveness. Earlier diagnosis through improved screening and more targeted treatment may allow for earlier disease control and better outcomes.
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