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- Open Access
PReS-FINAL-2260: Provisional findings of an on-going study of musculoskeletal anomalies in a national cohort of patients with trisomy 21
© Foley and Killeen; licensee BioMed Central Ltd. 2013
Published: 5 December 2013
Musculoskeletal complications of Down syndrome are common. Joint laxity is almost universal. This, in combination with low muscle tone, contribute to increased risk of a number of musculoskeletal disorders e.g. atlanto-axial instability, patella instability & pes planus. Arthritis in children with Down syndrome is also reported. Down's Arthropathy (DA) is thought to be 3-6 times more common than JIA in the general paediatric population. Despite this fact, DA is rarely recognised at onset & remains under-diagnosed. This contributes to unnecessary disability & functional impairment.
1.Take a musculoskeletal history from, and perform a musculoskeletal examination on children with Down syndrome between the ages of 0.5-18 years. 2.Score hypermobility using the Beighton & Brighton screening tools. 3.Examine joints for evidence of past and/or present arthritis.
From April 2013 to April 2014, children with Down syndrome will be invited to attend a screening clinic. Screening involves completion of a health questionnaire & a comprehensive musculoskeletal exam.
Current Down's Arthropathy Cohort
n = 12
Active Joint Count*
Restricted Joint Count*
Delay in Diagnosis (years)
Pes planus is commonly seen in children with T21, therefore orthotics & advice regarding correct footwear is important. Children with T21 often have hypermobile hips, not accounted for by the current scoring criteria for BHS. DA is common but often missed, with delayed diagnosis. Early diagnosis & treatment of DA is important to prevent unwanted joint destruction & functional disability. Children with T21 should have a musculoskeletal exam as part of their annual screening programme.
Disclosure of interest
This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.