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Down syndrome, also known as trisomy 21, is a developmental disability caused by a third copy of the 21st chromosome.[1]

Traits associated with Down syndrome include:

People with Down syndrome usually have weak immune systems.[5] They are especially vulnerable to infectious diseases and have higher odds for severe infections,[9][10] especially respiratory infections.[11][12]

Speech therapy[13] and adequate medical care (including vaccines[14]) are important for people with Down syndrome. Good education and healthcare can improve quality of life.[15]

See also[]

External links[]

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References[]

  1. Patterson D. Molecular genetic analysis of Down syndrome. Hum Genet. 2009 Jul;126(1):195-214. doi: 10.1007/s00439-009-0696-8. Epub 2009 Jun 13. PMID: 19526251.
  2. (2007) Down syndrome, 1st, New York: Rosen Pub. Group.
  3. Windsperger K, Hoehl S. Development of Down Syndrome Research Over the Last Decades-What Healthcare and Education Professionals Need to Know. Front Psychiatry. 2021 Dec 14;12:749046. doi: 10.3389/fpsyt.2021.749046. PMID: 34970162; PMCID: PMC8712441.
  4. Weijerman ME, de Winter JP. Clinical practice. The care of children with Down syndrome. Eur J Pediatr. 2010 Dec;169(12):1445-52. doi: 10.1007/s00431-010-1253-0. Epub 2010 Jul 15. PMID: 20632187; PMCID: PMC2962780.
  5. 5.0 5.1 Reilly C. Behavioural phenotypes and special educational needs: is aetiology important in the classroom? J Intellect Disabil Res. 2012 Oct;56(10):929-46. doi: 10.1111/j.1365-2788.2012.01542.x. Epub 2012 Apr 4. PMID: 22471356.
  6. (2012) "Genetics" Pediatrics for medical students, 3rd, Philadelphia: Wolters Kluwer Health/Lippincott Williams & Wilkins.
  7. (2010) "Pathophysiology of Selected Genetic Diseases" Pathophysiology of disease: an introduction to clinical medicine, 6th, Chapter 2, New York: McGraw-Hill Medical.
  8. (2007) The consequences of chromosome imbalance: principles, mechanisms, and models, 255–256, Cambridge: Cambridge University Press.
  9. Szczawińska-Popłonyk A, Popłonyk N, Awdi K. Down Syndrome in Children: A Primary Immunodeficiency with Immune Dysregulation. Children (Basel). 2024 Oct 17;11(10):1251. doi: 10.3390/children11101251. PMID: 39457216; PMCID: PMC11506678.
  10. Ramba M, Bogunovic D. The immune system in Down Syndrome: Autoimmunity and severe infections. Immunol Rev. 2024 Mar;322(1):300-310. doi: 10.1111/imr.13296. Epub 2023 Dec 5. PMID: 38050836; PMCID: PMC10950520.
  11. Dieudonné Y, Uring-Lambert B, Jeljeli MM, Gies V, Alembik Y, Korganow AS, Guffroy A. Immune Defect in Adults With Down Syndrome: Insights Into a Complex Issue. Front Immunol. 2020 May 8;11:840. doi: 10.3389/fimmu.2020.00840. PMID: 32457756; PMCID: PMC7225335.
  12. Ram G, Chinen J. Infections and immunodeficiency in Down syndrome. Clin Exp Immunol. 2011 Apr;164(1):9-16. doi: 10.1111/j.1365-2249.2011.04335.x. Epub 2011 Feb 24. PMID: 21352207; PMCID: PMC3074212.
  13. Hickey F, Hickey E, Summar KL. Medical update for children with Down syndrome for the pediatrician and family practitioner. Adv Pediatr. 2012;59(1):137-57. doi: 10.1016/j.yapd.2012.04.006. PMID: 22789577.
  14. Emes D, Hüls A, Baumer N, Dierssen M, Puri S, Russell L, Sherman SL, Strydom A, Bargagna S, Brandão AC, Costa ACS, Feany PT, Chicoine BA, Ghosh S, Rebillat AS, Sgandurra G, Valentini D, Rohrer TR, Levin J, Lakhanpaul M, On Behalf Of The Trisomy Research Society Covid-Initiative Study Group. COVID-19 in Children with Down Syndrome: Data from the Trisomy 21 Research Society Survey. J Clin Med. 2021 Oct 31;10(21):5125. doi: 10.3390/jcm10215125. PMID: 34768645; PMCID: PMC8584980.
  15. Hickey F, Hickey E, Summar KL. Medical update for children with Down syndrome for the pediatrician and family practitioner. Adv Pediatr. 2012;59(1):137-57. doi: 10.1016/j.yapd.2012.04.006. PMID: 22789577.
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