Clinical Features and Treatment of Down Syndrome Arthropathy: Experience from Two US Tertiary Hospitals
- 42 Downloads
Arthropathy 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.
Our objective was to investigate the clinical features and treatment of DA in the largest cohort reported to date.
In 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.
In 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.
DA 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.
The authors acknowledge Chelsey Smith of Children’s Mercy Kansas City for coordinator support, Leena Danawala of University of Missouri-Kansas City for help with data collection, and Judy Thomas of Cincinnati Children’s Medical Center for help obtaining medical records.
Compliance with Ethical Standards
Conflict of interest
Jordan T. Jones, Nasreen Talib, Daniel Lovell, and Mara L. Becker have no conflicts of interest that are directly relevant to the content of this article.
No sources of funding were used to conduct this study or prepare this manuscript.
- 6.Olson JC, Bender JC, Levinson JE, Oestreich A, Lovell DJ. Arthropathy of Down syndrome. Pediatrics. 1990;86(6):931–6.Google Scholar
- 10.Petty RE, Laxer RM, Lindsley CB, Wedderburn L. Textbook of pediatric rheumatology. 7th ed. Philadelphia, PA: Saunders; 2016. p. 736.Google Scholar
- 11.Petty RE, Southwood TR, Manners P, Baum J, Glass DN, Goldenberg J, et al. International League of Associations for Rheumatology classification of juvenile idiopathic arthritis: second revision, Edmonton, 2001. J Rheumatol. 2004;31(2):390–2.Google Scholar
- 12.Brewer EJ Jr, Bass J, Baum J, Cassidy JT, Fink C, Jacobs J, et al. Current proposed revision of JRA Criteria. JRA Criteria Subcommittee of the Diagnostic and Therapeutic Criteria Committee of the American Rheumatism Section of the Arthritis Foundation. Arthritis Rheum. 1977;20(2 Suppl):195–9.Google Scholar
- 16.Wallace CA, Giannini EH, Huang B, Itert L, Ruperto N, Childhood Arthritis Rheumatology Research A, et al. American College of Rheumatology provisional criteria for defining clinical inactive disease in select categories of juvenile idiopathic arthritis. Arthritis Care Res (Hoboken). 2011;63(7):929–36.Google Scholar
- 17.Malak R, Kotwicka M, Krawczyk-Wasielewska A, Mojs E, Samborski W. Motor skills, cognitive development and balance functions of children with Down syndrome. Ann Agric Environ Med AAEM. 2013;20(4):803–6.Google Scholar