Brief Musculoskeletal Screen and Patient Education for Down Syndrome-Associated Arthritis

Abstract

Down syndrome (DS) is one of the most common birth defects in the United States with resulting in an estimated birth prevalence of 12.6 per 10 000 live births.1 DS is characterized by a heterogenous phenotype that results from a dosage imbalance of genes on human chromosome 21.2 Due to the heterogenous phenotype, broad presentation of presenting symptoms, and complex needs of the child with DS, the American Academy of Pediatrics (AAP) published a clinical report for the health supervision of children with DS.3 The report discusses age-appropriate guidance on when to screen for specific conditions, when to refer to specialty care for evaluation, and anticipatory guidance for families as their child with DS ages. Inflammatory arthritis in children with DS was first described in 1984 and was termed Down syndrome arthropathy,4 however, the term Down syndrome-associated arthritis (DA) has been recommended to better describe the inflammatory nature of the disease.5 Studies have shown that DA is under-recognized with a delay in diagnosis.6 Most patients present with polyarticular (5 or more joints with arthritis), rheumatoid factor (RF), and anti-nuclear antibody (ANA) negative disease.6 There are reports that DA is more prevalent than juvenile idiopathic arthritis (JIA),5,7 which is the most common pediatric rheumatologic disease.8 Additionally, DA appears more aggressive than JIA with more bone and joint damage at presentation, and despite aggressive therapy with disease modifying antirheumatic drugs (DMARDs) and biologic therapy, disease burden is higher for those with DA compared to JIA.9 Despite this the American Academy of Pediatrics does not mention arthritis or screening for arthritis in the clinical report for health supervision of children with DS. In a national survey of Down syndrome clinic providers, 77% responded that they were aware of the risk for inflammatory arthritis in DS, however, less than half educated families about the risk, which is likely due to the lack of guidance around screening and evaluation for DA.10 The uncertainty and lack of guidance in screening for DA is a gap in the medial literature. Our objective was to develop and pilot a brief musculoskeletal screen for DA and our secondary objective was to provide education to families about DA.