Downs Syndrome

Musculoskeletal features are common in children with Down syndrome. These include generalised hypotonia, joint hypermobility and delayed motor development, often resulting in functional difficulties. Orthopaedic features may include scoliosis, cervical spine instability, hip subluxation or dislocation, and short stature, all of which require ongoing surveillance.

Inflammatory arthritis in Down syndrome

Inflammatory arthritis (often referred to as Down’s arthritis) is significantly more common in children with Down syndrome, occurring at a rate approximately 20 times higher than juvenile idiopathic arthritis in the general paediatric population.

The condition is often insidious and may appear asymptomatic, so a high index of suspicion is required. Children may present with behavioural change, reduced function or deterioration in mobility, rather than clear complaints of pain.

Clinical signs may be subtle. There may be minimal joint swelling, little or no reported pain, and no obvious morning stiffness. The small joints of the hands, wrists and knees are most commonly affected. Careful examination is essential, looking for loss of range of movement or loss of hyperextension, particularly where there is asymmetry between sides, as this may indicate previously unrecognised disease.

Where there is clinical concern, MRI with gadolinium contrast is considered the most sensitive investigation and should be used to support diagnosis, as clinical findings alone may be limited.

Management can be challenging. Methotrexate intolerance is common in this group, and biologic therapies such as anti-TNF agents may be required. Children with Down syndrome should also receive a routine musculoskeletal assessment as part of their annual surveillance programme.

The risk of uveitis is low in Down’s arthritis, and rheumatoid factor is typically negative.