{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,19]],"date-time":"2026-08-19T18:25:30Z","timestamp":1787163930338,"version":"build-2736575974"},"reference-count":45,"publisher":"BMJ","issue":"1","funder":[{"name":"National Children's Research Centre, Our Lady's Children's Hospital, Dublin","award":["D\/13\/4"],"award-info":[{"award-number":["D\/13\/4"]}]}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["RMD Open"],"accepted":{"date-parts":[[2019,4,23]]},"published-print":{"date-parts":[[2019,6]]},"abstract":"<jats:p>There is an increased incidence and prevalence of arthropathy in children with Down syndrome. However, it is rarely reported or recognised at onset, and remains under-diagnosed. Children with arthropathy of Down syndrome (A-DS) are presenting with significant joint damage and disability at diagnosis.<\/jats:p>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>To identify undiagnosed cases of A-DS and document time to diagnosis. Also to describe clinical, laboratory and radiological features of A-DS at diagnosis.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methodology<\/jats:title>\n                    <jats:p>Children with Down syndrome (DS) (0\u201321 years) were invited to attend a musculoskeletal screening clinic. A second physician at a further clinic confirmed suspected cases of A-DS. Investigations and treatment were instigated as per normal clinical practice for Juvenile idiopathic arthritis (JIA). Data on a convenience sample of 21 newly diagnosed children with JIA was collected to create a comparison group.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Over an 18-month period, 503 children with DS were screened for arthritis and 18 new cases diagnosed. In total, 33 children were identified with A-DS (combining cases attending pre-dating commencement of the study and those referred to our centre during the study period). This suggests prevalence of A-DS is 20\/1000. A significant delay in diagnosis of A-DS was observed. The majority of children presented with polyarticular-rheumatoid factor-negative arthritis, with predominance in the small joints of the hands and wrists. Erosive changes were reported on X-ray in a significantly greater proportion (42%) of children with A-DS than JIA (14%). MRI was used to confirm diagnosis in four cases.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Children with DS are at increased risk of arthritis. Future research to accurately define disease pathogenesis and identify a biomarker of disease would be of benefit.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1136\/rmdopen-2018-000890","type":"journal-article","created":{"date-parts":[[2019,6,4]],"date-time":"2019-06-04T06:37:54Z","timestamp":1559630274000},"page":"e000890","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":32,"title":["Arthropathy of Down syndrome: an under-diagnosed inflammatory joint disease that warrants a name change"],"prefix":"10.1136","volume":"5","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7017-694X","authenticated-orcid":false,"given":"Charlene M","family":"Foley","sequence":"first","affiliation":[{"name":"National Centre for Paediatric Rheumatology, Our Lady's Children's Hospital, Crumlin, Ireland"},{"name":"National Children's Research Centre, Dublin, Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Derek A","family":"Deely","sequence":"additional","affiliation":[{"name":"National Centre for Paediatric Rheumatology, Our Lady's Children's Hospital, Crumlin, Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emma Jane","family":"MacDermott","sequence":"additional","affiliation":[{"name":"National Centre for Paediatric Rheumatology, Our Lady's Children's Hospital, Crumlin, Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Orla G","family":"Killeen","sequence":"additional","affiliation":[{"name":"National Centre for Paediatric Rheumatology, Our Lady's Children's Hospital, Crumlin, Ireland"},{"name":"National Children's Research Centre, Dublin, Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2019,6,3]]},"reference":[{"key":"2025090313060003000_5.1.e000890.1","first-page":"390","article-title":"International League of associations for rheumatology classification of juvenile idiopathic arthritis: second revision, Edmonton, 2001","volume":"31","author":"Petty","year":"2004","journal-title":"Journal of Rheumatology"},{"key":"2025090313060003000_5.1.e000890.2","doi-asserted-by":"crossref","unstructured":"Hayward K , Wallace CA . 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