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Clinical Features and Treatment of Down Syndrome Arthropathy: Experience from Two US Tertiary Hospitals

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Abstract

Background

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.

Objectives

Our objective was to investigate the clinical features and treatment of DA in the largest cohort reported to date.

Methods

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.

Results

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.

Conclusions

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.

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Acknowledgements

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.

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Authors and Affiliations

  1. Division of Rheumatology, Children’s Mercy Kansas City, 2401 Gillham Road, Kansas City, MO, 64108, USA

    Jordan T. Jones & Mara L. Becker

  2. Division of General Pediatrics, Children’s Mercy Kansas City, 2401 Gillham Road, Kansas City, MO, 64108, USA

    Nasreen Talib

  3. Division of Rheumatology, Cincinnati Children’s Hospital Medical Center, 3333 Burnet Avenue, MLC 4010, Cincinnati, OH, 45229, USA

    Daniel Lovell

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  1. Jordan T. Jones
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  4. Mara L. Becker
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Corresponding author

Correspondence to Jordan T. Jones.

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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.

Funding

No sources of funding were used to conduct this study or prepare this manuscript.

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Jones, J.T., Talib, N., Lovell, D. et al. Clinical Features and Treatment of Down Syndrome Arthropathy: Experience from Two US Tertiary Hospitals. Pediatr Drugs 21, 33–39 (2019). https://doi.org/10.1007/s40272-018-0322-0

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  • DOI: https://doi.org/10.1007/s40272-018-0322-0