Charlene Foley

Clinical and radiological features of down's arthropathy

The ‘Arthropathy of Down syndrome’ was first described in 1984. Three decades on we still have limited literature on the clinical and radiological features of this arthritis, despite the fact that it is thought to be 3-6 times more common than JIA in the general paediatric population. Down’s Arthropathy (DA) is rarely recognised at onset, and remains under-diagnosed and largely under-reported in this population group. Ireland has one of the highest Trisomy 21 birth rates in Europe (1/547), & therefore provides an ideal setting for such a study. Research Qs - 1. What are the clinical & radiological features of DA? 2. Is DA missed, leading to a delay in dx?

Musculoskeletal anomalies in a national cohort of children and adolescents with trisomy 21

Musculoskeletal complications of Down syndrome are common. Joint laxity, which may be associated with delayed ambulation, is almost universal. The combination of this ligamentous laxity and low muscle tone contribute to an increased risk of a number of musculoskeletal disorders in children with Down syndrome.

Myeloid related proteins 8 and 14 (mrp 8/14) - potential biomarkers of disease activity of arthritis in children with trisomy 21

JIA is an umbrella term used to describe a heterogeneous group of diseases. To date no specific markers exist in clinical practice to predict disease activity & outcome. MRP 8/14 are calcium-binding proteins secreted by infiltrating phagocytes in synovial inflammation. Studies have shown that serum (Se) concentrations correlate sensitively & specifically with synovial inflammation in JIA. It is believed that they are predictive biomarkers that can identify subclinical disease activity, patients at risk of relapse during times of clinically inactive disease, and patients more likely to respond to Rx with MTX. To date there have been no studies looking specifically at their use in DA. Research Q(s) - 1. Are MRP8/14 accurate markers of inflammation in DA? 2. Do MRP 8/14 levels in Se correlate to Synovial Fluid (SF)?