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Review

Down Syndrome-Associated Arthritis (DA): Diagnostic and Management Challenges

ORCID Icon, &
Pages 53-62 | Published online: 14 Mar 2022

References

  • de Graaf G, Buckley F, Skotko BG. Estimates of the live births, natural losses, and elective terminations with Down syndrome in the United States. Am J Med Genet A. 2015;167A(4):756–767. doi:10.1002/ajmg.a.37001
  • Antonarakis SE, Skotko BG, Rafii MS, et al. Down syndrome. Nat Rev Dis Primers. 2020;6(1):9. doi:10.1038/s41572-019-0143-7
  • Bull MJ. Down syndrome. N Engl J Med. 2020;382(24):2344–2352. doi:10.1056/NEJMra1706537
  • Asim A, Kumar A, Muthuswamy S, Jain S, Agarwal S. Down syndrome: an insight of the disease. J Biomed Sci. 2015;22:41. doi:10.1186/s12929-015-0138-y
  • Shin M, Siffel C, Correa A. Survival of children with mosaic Down syndrome. Am J Med Genet A. 2010;152A(3):800–801. doi:10.1002/ajmg.a.33295
  • Verstegen RHJ, Chang KJJ, Kusters MAA. Clinical implications of immune-mediated diseases in children with Down syndrome. Pediatr Allergy Immunol. 2020;31(2):117–123. doi:10.1111/pai.13133
  • Yancey CL, Zmijewski C, Athreya BH, Doughty RA. Arthropathy of Down’s syndrome. Arthritis Rheum. 1984;27(8):929–934. doi:10.1002/art.1780270813
  • Foley CM, Deely DA, MacDermott EJ, Killeen OG. Arthropathy of Down syndrome: an under-diagnosed inflammatory joint disease that warrants a name change. RMD Open. 2019;5(1):e000890. doi:10.1136/rmdopen-2018-000890
  • Jones JT, Talib N, Lovell D, Becker ML. Clinical features and treatment of Down syndrome arthropathy: experience from two US tertiary hospitals. Paediatr Drugs. 2019;21(1):33–39. doi:10.1007/s40272-018-0322-0
  • Olson JC, Bender JC, Levinson JE, Oestreich A, Lovell DJ. Arthropathy of Down syndrome. Pediatrics. 1990;86(6):931–936. doi:10.1542/peds.86.6.931
  • Juj H, Emery H. The arthropathy of Down syndrome: an underdiagnosed and under-recognized condition. J Pediatr. 2009;154(2):234–238. doi:10.1016/j.jpeds.2008.07.056
  • Woo P, Colbert RA. An overview of genetics of paediatric rheumatic diseases. Best Pract Res Clin Rheumatol. 2009;23(5):589–597. doi:10.1016/j.berh.2009.08.001
  • Jones JT, Smith C, Becker ML, Lovell D, Investigators CR. The Down syndrome-associated arthritis Cohort in the new Childhood Arthritis and Rheumatology Research Alliance (CARRA) Registry: clinical characteristics, treatment and outcomes. Arthritis Care Res. 2020. doi:10.1002/acr.24418
  • Jones JT, Smith C, Talib N. Brief musculoskeletal screen and patient education for Down syndrome-associated arthritis. Glob Pediatr Health. 2021;8:2333794X211045562. doi:10.1177/2333794X211045562
  • Bull MJ; Committee on G. Health supervision for children with Down syndrome. Pediatrics. 2011;128(2):393–406. doi:10.1542/peds.2011-1605
  • Johnson Z, Lillis D, Delany V, Hayes C, Dack P. The epidemiology of Down syndrome in four counties in Ireland 1981–1990. J Public Health Med. 1996;18(1):78–86. doi:10.1093/oxfordjournals.pubmed.a024466
  • Petty RE, Southwood TR, Manners P, et al. International League of Associations for Rheumatology classification of juvenile idiopathic arthritis: second revision, Edmonton, 2001. J Rheumatol. 2004;31(2):390–392.
  • Nicek A, Talib N, Lovell D, Smith C, Becker ML, Jones JT. Assessment and treatment of Down syndrome-associated arthritis: a survey of pediatric rheumatologists. Pediatr Rheumatol Online J. 2020;18(1):57. doi:10.1186/s12969-020-00445-6
  • Sherk HH, Pasquariello PS, Watters WC. Multiple dislocations of the cervical spine in a patient with juvenile rheumatoid arthritis and Down’s syndrome. Clin Orthop Relat Res. 1982;162:37–40. doi:10.1097/00003086-198201000-00007
  • Herring JA. Cervical instability in Down’s syndrome and juvenile rheumatoid arthritis. J Pediatr Orthop. 1982;2(2):205–207. doi:10.1097/01241398-198202020-00017
  • Padmakumar B, Evans jones LG, Sills JA. Is arthritis more common in children with Down syndrome? Rheumatology. 2002;41(10):1191–1193. doi:10.1093/rheumatology/41.10.1191
  • Çubukçu D, Alkan H. Patient with arthritis and Down’s syndrome: a dilemma to distinguish, juvenile idiopathic arthritis or arthropathy of the syndrome?. J PMR Sci. 2014;18:36–39.
  • Krumrey-Langkammerer M, Hass JP. Trisomy 21 and juvenile idiopathic arthritis: relevance of chromosomal aberrations for the diagnostic assessment of arthritis. Akt Rheumatol. 2016;2016(41):390–395.
  • Mauro A, Zenzeri L, Rega R, Di Nardo G, Sottile R. Chronic arthropathy in Down’s syndrome: case report and literature review. Case Report. Int J Clin Rheumtol. 2019;14(5):213–215.
  • Petty RE, Laxer RM, Lindsley CB, Wedderburn L. Textbook of Pediatric Rheumatology. 7th ed. Saunders; 2016:736.
  • Nisihara RM, Skare TL, Silva MBG, et al. High positivity of anti-CCP antibodies in patients with Down syndrome. Clin Rheumatol. 2007;26(12):2031–2035. doi:10.1007/s10067-007-0606-1
  • da Rosa Utiyama SR, Nisihara RM, Nass FR, Oliveira NP, Fiedler PT, de Messias-reason IT. Autoantibodies in patients with Down syndrome: early senescence of the immune system or precocious markers for immunological diseases? J Paediatr Child Health. 2008;44(4):182–186. doi:10.1111/j.1440-1754.2007.01229.x
  • Orro E, Alnek K, Reimand T, et al. Patients with down syndrome have increased prevalence of rheumatoid factor but not autoantibodies to anti-cyclic citrullinated peptide. Clin Chim Acta. 2019;495:40–42. doi:10.1016/j.cca.2019.03.1614
  • Heiligenhaus A, Heinz C, Edelsten C, Kotaniemi K, Minden K. Review for disease of the year: epidemiology of juvenile idiopathic arthritis and its associated uveitis: the probable risk factors. Ocul Immunol Inflamm. 2013;21(3):180–191. doi:10.3109/09273948.2013.791701
  • Martin TM, Rosenbaum JT. An update on the genetics of HLA B27-associated acute anterior uveitis. Ocul Immunol Inflamm. 2011;19(2):108–114. doi:10.3109/09273948.2011.559302
  • Saurenmann RK, Levin AV, Feldman BM, et al. Prevalence, risk factors, and outcome of uveitis in juvenile idiopathic arthritis: a long-term follow up study. Arthritis Rheum. 2007;56(2):647–657. doi:10.1002/art.22381
  • Kusters MA, Verstegen RH, Gemen EF, de Vries E. Intrinsic defect of the immune system in children with Down syndrome: a review. Clin Exp Immunol. 2009;156(2):189–193. doi:10.1111/j.1365-2249.2009.03890.x
  • de Hingh YC, van der Vossen PW, Gemen EF, et al. Intrinsic abnormalities of lymphocyte counts in children with down syndrome. J Pediatr. 2005;147(6):744–747. doi:10.1016/j.jpeds.2005.07.022
  • Franciotta D, Verri A, Zardini E, et al. Interferon-γ- and interleukin-4-producing T cells in Down’s syndrome. Neurosci Lett. 2006;395(1):67–70. doi:10.1016/j.neulet.2005.10.048
  • Nateghi Rostami M, Douraghi M, Miramin Mohammadi A, Nikmanesh B. Altered serum pro-inflammatory cytokines in children with Down’s syndrome. Eur Cytokine Netw. 2012;23(2):64–67. doi:10.1684/ecn.2012.0307
  • Zhang Y, Che M, Yuan J, et al. Aberrations in circulating inflammatory cytokine levels in patients with Down syndrome: a meta-analysis. Oncotarget. 2017;8(48):84489–84496. doi:10.18632/oncotarget.21060
  • Sullivan KD, Lewis HC, Hill AA, et al. Trisomy 21 consistently activates the interferon response. Elife. 2016;5. doi:10.7554/eLife.16220
  • Sullivan KD, Evans D, Pandey A, et al. Trisomy 21 causes changes in the circulating proteome indicative of chronic autoinflammation. Sci Rep. 2017;7(1):14818. doi:10.1038/s41598-017-13858-3
  • Waugh KA, Araya P, Pandey A, et al. Mass cytometry reveals global immune remodeling with multi-lineage hypersensitivity to type I interferon in Down syndrome. Cell Rep. 2019;29(7):1893–1908 e4. doi:10.1016/j.celrep.2019.10.038
  • Foley C, Floudas A, Canavan M, et al. Increased T cell plasticity with dysregulation of follicular helper T, peripheral helper T, and treg cell responses in children with juvenile idiopathic arthritis and Down syndrome-associated arthritis. Arthritis Rheumatol. 2020;72(4):677–686. doi:10.1002/art.41150
  • Cruikshank M, Tunc A, Walsh J, Galea P, Davidson J, Gardner-Medwin J. Arthritis in Down’s syndrome is still being missed. Pediatr Rheumatol Online J. 2008;6:P54. doi:10.1186/1546-0096-6-S1-P54
  • McDonagh K, McGuire BE, Durand H. Being a parent of a child with Down’s arthritis: an interpretative phenomenological analysis. Disabil Rehabil. 2021;1–9. doi:10.1080/09638288.2021.1979663
  • Jones JT, Smith C, Talib N. Assessment of Down syndrome-associated arthritis: a survey of Down syndrome clinic providers. Glob Pediatr Health. 2021;8:2333794X21999134. doi:10.1177/2333794X21999134
  • Jabs DA, Nussenblatt RB, Rosenbaum JT; Standardization of Uveitis Nomenclature (SUN) Working Group. Standardization of uveitis nomenclature for reporting clinical data. Results of the First International Workshop. Am J Ophthalmol. 2005;140(3):509–516. doi:10.1016/j.ajo.2005.03.057
  • Peeters M, Poon A. Down syndrome and leukemia: unusual clinical aspects and unexpected methotrexate sensitivity. Eur J Pediatr. 1987;146(4):416–422. doi:10.1007/BF00444952
  • Buitenkamp TD, Mathot RA, de Haas V, Pieters R, Zwaan CM. Methotrexate-induced side effects are not due to differences in pharmacokinetics in children with Down syndrome and acute lymphoblastic leukemia. Haematologica. 2010;95(7):1106–1113. doi:10.3324/haematol.2009.019778
  • Bertapelli F, Pitetti K, Agiovlasitis S, Guerra-Junior G. Overweight and obesity in children and adolescents with Down syndrome-prevalence, determinants, consequences, and interventions: a literature review. Res Dev Disabil. 2016;57:181–192. doi:10.1016/j.ridd.2016.06.018
  • Singh G, Athreya BH, Fries JF, Goldsmith DP. Measurement of health status in children with juvenile rheumatoid arthritis. Arthritis Rheum. 1994;37(12):1761–1769. doi:10.1002/art.1780371209
  • McErlane F, Beresford MW, Baildam EM, et al. Validity of a three-variable Juvenile Arthritis Disease Activity Score in children with new-onset juvenile idiopathic arthritis. Ann Rheum Dis. 2013;72(12):1983–1988. doi:10.1136/annrheumdis-2012-202031
  • Consolaro A, Negro G, Chiara Gallo M, et al. Defining criteria for disease activity states in nonsystemic juvenile idiopathic arthritis based on a three-variable juvenile arthritis disease activity score. Arthritis Care Res. 2014;66(11):1703–1709. doi:10.1002/acr.22393
  • Schulert GS, Yasin S, Carey B, et al. Systemic juvenile idiopathic arthritis-associated lung disease: characterization and risk factors. Arthritis Rheumatol. 2019;71(11):1943–1954. doi:10.1002/art.41073
  • Saper VE, Chen G, Deutsch GH, et al. Emergent high fatality lung disease in systemic juvenile arthritis. Ann Rheum Dis. 2019;78(12):1722–1731. doi:10.1136/annrheumdis-2019-216040
  • Pham AT, Rachubinski AL, Enriquez-Estrada B, Worek K, Griffith M, Espinosa JM. JAK inhibition for treatment of psoriatic arthritis in Down syndrome. Rheumatology. 2021;60(9):e309–e311. doi:10.1093/rheumatology/keab203
  • Worley E, Li W, Jones JT. Atypical presentation of systemic arthritis in a Toddler with Down syndrome. Case Rep Pediatr. 2021;2021:6567770. doi:10.1155/2021/6567770