The Down's Syndrome Medical Interest Group
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Medical Library

DOWN'S SYNDROME : INFLAMMATORY ARTHROPATHY. Key Points.

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(based on a presentation by Dr Janet Gardner-Medwin. DSMIG Glasgow. May 2007) 

  • Probably about three times as common as juvenile idiopathic arthritis in other children.

  • Should be suspected in all children with Down’s syndrome who present with difficulty walking or where other functional deterioration is reported.

  • Difficult to diagnose and frequently overlooked because:

    • children with Down’s syndrome tend not to express pain
    • confusion due to syndrome-associated joint hypermobility.
    • formal musculoskeletal examination rarely carried out.
    • X Ray changes are late
    • ANA positive in only 40%

  • Functional adaptations occur

  • Key clinical sign:

    • stiffness (gelling) - early morning or after immobility. Improves on mobilizing

  • Formal musculoskeletal examination essential

  • Ultrasound or MRI can identify synovitis, but a competent rheumatologist will be able to make a clinical diagnosis in most cases.

  • Response to treatment is not good, but in some children does significantly improve outcome.  Early treatment more efficacious than late.

  • Children with Down’s syndrome should have a 5 minute musculoskeletal assessment every year. See pGALS – A musculoskeletal screening assessment (Word doc) from the Arthritis Research Campaign

  • JIA associated with chronic anterior uveitis, and unclear if Down’s risk is different therefore slit lamp examination recommended for those with active disease

JGM/JD November 2007

This page is also available as a PDF.