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Musculoskeletal anomalies in children with Down syndrome: an observational study
  1. Charlene Foley1,2,
  2. Orla G Killeen1,2
  1. 1 National Centre for Paediatric Rheumatology, Our Lady’s Children’s Hospital Crumlin, Dublin, Ireland
  2. 2 National Children’s Research Centre, Dublin, Ireland
  1. Correspondence to Dr Charlene Foley, National Centre for Paediatric Rheumatology, Dublin 12, Ireland; charlenefoley{at}live.co.uk

Abstract

Background Musculoskeletal complications of Down syndrome (DS) are common but infrequently reported. The combination of ligamentous laxity and low muscle tone contributes to increased risk of a number of musculoskeletal disorders and a delay in acquisition of motor milestones. The primary aim of this study was to describe musculoskeletal anomalies reported in a national cohort of children with DS.

Methods This was an observational study. Children with DS, aged 0–21 years, were invited to attend a musculoskeletal assessment clinic conducted by a paediatric physician. Relevant musculoskeletal history and clinical findings were documented.

Results Over an 18-month period, 503 children with DS were examined (56% male). The median age was 8.1 years (0.6–19.2). Pes planus was almost universal, occurring in 91% of the cohort. A range of other musculoskeletal anomalies were observed, with inflammatory arthritis (7%) and scoliosis (4.8%) occurring most frequently after pes planus. Delay in ambulation was common; the median age to walk was 28 months (12–84).

Conclusion Children with DS are at increased risk of a number of potentially debilitating musculoskeletal problems. These conditions can present in variable manners or be completely asymptomatic. Pes planus is common; therefore, early consideration of orthotics and lifelong appropriate supportive footwear should be considered. Delayed ambulation is frequently noted. A significant proportion of children with DS have arthritis; however, despite a high prevalence, it is often missed, leading to delayed diagnosis. An annual musculoskeletal assessment for all children with DS could potentially enable early detection of problems, allowing for timely multidisciplinary team intervention and better clinical outcomes.

  • musculo-skeletal
  • rheumatology
  • syndrome
  • orthopaedics
  • comm child health

This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/.

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Footnotes

  • Contributors CF and OGK: substantial contributions to the conception or design of the work; acquisition, analysis or interpretation of data for the work; drafting the work or revising it critically for important intellectual content; final approval of the version to be published; agreement to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.

  • Funding This work was supported by the National Children’s Research Centre, Crumlin, Dublin (grant number D/13/4 5).

  • Competing interests None declared.

  • Patient consent Not required.

  • Ethics approval Ethical approval for this study was granted by the Ethics (Medical Research) Committee Office, Our Lady’s Children’s Hospital, Crumlin, Dublin, Ireland.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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