Study of the prevalence of musculoskeletal abnormalities, particularly arthritis, in children with Down’s syndrome in the Glasgow population

Down’s syndrome (DS) is associated with multiple musculoskeletal (MSK) features, including hypermobility and inflammatory arthritis. MSK disorders are not included in the screening programme for these children and correct diagnosis of MSK problems can be missed or delayed. This study aimed to identify and examine the population of children with DS resident in Greater Glasgow to determine the frequency of musculoskeletal disorders and the levels of associated physical disability, particularly hypermobility, podiatric disorders, arthritis and obesity levels. Between Jan 2011-2012 147 children with DS, aged between two and sixteen years and resident in Greater Glasgow and Clyde Health Board by postcode were identified from the Glasgow Thyroid and community paediatricians’ register. They were invited to a single study visit encompassing musculoskeletal and podiatric examinations, anthropometric measurements and completion of study questionnaires. Focus groups were carried out to establish knowledge of MSK disorders in professionals likely to encounter this population. Seventy three children participated in the study. A high level of hypermobility was identified, characterized by predominance in the weight bearing joints of the lower limbs, especially hips (77%), ankles (56%) and feet (59%). Standard measures of hypermobility failed to identify the extent and severity of hypermobility in these children, identifying only 15% of children as having hypermobility syndrome. No new cases of arthritis were identified in the study cohort. Families reported a lack of expression of pain. Ten percent of the cohort were obese, compared to 20% in the UK cohort from which DS growth charts are derived. Focus groups identified concerns from professionals about knowledge and skills in identifying musculoskeletal problems in these children, and challenges in ascribing an appropriate diagnosis. This study identified barriers to care for a range of MSK pathologies in DS which targeted education and disease specific structuring of services could address. Rheumatologists found that expectations for MSK functioning in this population were low. Education focusing on the recognition and accurate assessment of altered or deteriorating MSK function is required. Severe and extensive hypermobility combined with altered expression of pain were found in this population, adding diagnostic challenges. Current MSK examination tools for hypermobility and hypotonia did not perform well in this population. Current health screening structures, the education and expectations of those providing health screening were identified as further barriers to MSK diagnosis. Facilitating early and accurate MSK diagnosis through the development of MSK examination tools, targeted education and structuring services for this population are important for the MSK and broader health of these children