The Detection of Down Syndrome Arthritis in Clinical Practice: A Multicenter, International Pilot and Feasibility Study of a Down Syndrome-Specific Musculoskeletal Screening Tool.
Document Type
Article
Publication Date
3-2026
Identifier
DOI: 10.1002/ajmg.a.64290
Abstract
Down syndrome (DS) is associated with an increased risk for an inflammatory arthritis termed Down syndrome-associated arthritis (DA). Clinical awareness of DA may prevent morbidity, but there is currently no consensus approach to screen for DA. A DS musculoskeletal (DS-MSK) screening tool was developed and piloted in clinics to identify inflammatory arthritis in individuals with DS. The prevalence of DA and the feasibility of the DS-MSK screening tool were also evaluated. Through a non-randomized, cross-sectional, multicenter study, patients with DS were enrolled by eight institutions that provide specialized comprehensive care to individuals with DS. A novel tool was developed to screen all patients for DA through DS-MSK history and DS-physical exam. Feasibility was assessed through the assessment of additional time the screening tool added to clinical visits. Of the 1111 participants with an average age of 10 years (SD 6.7), there were 1019 pediatric patients and 92 adult patients. There were 62 (6%) positive screens; of those, 21 (34%) were diagnosed with DA by a rheumatologist. Reports of joint swelling, redness, warmth, and stiffness were most associated with a diagnosis of DA. DA is an important consideration in the comprehensive care of individuals with DS. The condition can be aggressive and debilitating if misdiagnosed. We developed a simple, feasible DS-MSK screening tool that can identify DA. Future studies should focus on a shorter, less time-consuming tool that maintains positive predictive value for diagnosing DA that can easily be implemented into routine care for people with DS.
Journal Title
American journal of medical genetics. Part A
Volume
200
Issue
3
First Page
653
Last Page
660
MeSH Keywords
Humans; Down Syndrome; Male; Female; Child; Pilot Projects; Adult; Adolescent; Feasibility Studies; Child, Preschool; Arthritis; Cross-Sectional Studies; Young Adult; Mass Screening; Middle Aged
PubMed ID
41195744
Keywords
Down syndrome; arthritis; musculoskeletal; screening; screening tool; trisomy 21
Recommended Citation
Jones JT, Talib N, Cramer E, et al. The Detection of Down Syndrome Arthritis in Clinical Practice: A Multicenter, International Pilot and Feasibility Study of a Down Syndrome-Specific Musculoskeletal Screening Tool. Am J Med Genet A. 2026;200(3):653-660. doi:10.1002/ajmg.a.64290
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