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

RJ Pediatrics

Todd, Maureen Ann ; Gardner-Medwin, Janet

University:University of Glasgow

Department:School of Medicine, Dentistry & Nursing

关键词: Musculoskeletal, Down's syndrome, hypermobility, JIA;   

Others  :  http://theses.gla.ac.uk/6225/1/2015toddmsc.pdf

来源: University of Glasgow

【 摘 要 】

Down’s syndrome (DS) is associated with multiple musculoskeletal (MSK) features, includinghypermobility and inflammatory arthritis. MSK disorders are not included in the screeningprogramme 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 GreaterGlasgow to determine the frequency of musculoskeletal disorders and the levels of associatedphysical 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 inGreater Glasgow and Clyde Health Board by postcode were identified from the Glasgow Thyroidand community paediatricians’ register. They were invited to a single study visit encompassingmusculoskeletal and podiatric examinations, anthropometric measurements and completion ofstudy questionnaires. Focus groups were carried out to establish knowledge of MSK disorders inprofessionals 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 theextent and severity of hypermobility in these children, identifying only 15% of children as havinghypermobility syndrome. No new cases of arthritis were identified in the study cohort. Familiesreported a lack of expression of pain. Ten percent of the cohort were obese, compared to 20% inthe UK cohort from which DS growth charts are derived. Focus groups identified concerns fromprofessionals 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 targetededucation and disease specific structuring of services could address. Rheumatologists found thatexpectations for MSK functioning in this population were low. Education focusing on therecognition and accurate assessment of altered or deteriorating MSK function is required. Severeand extensive hypermobility combined with altered expression of pain were found in thispopulation, adding diagnostic challenges. Current MSK examination tools for hypermobility andhypotonia did not perform well in this population. Current health screening structures, theeducation and expectations of those providing health screening were identified as further barriers toMSK diagnosis. Facilitating early and accurate MSK diagnosis through the development of MSKexamination tools, targeted education and structuring services for this population are important forthe MSK and broader health of these children.