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User:Mr. Ibrahem/Down syndrome

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Down syndrome
Other namesDown's syndrome, Down's, trisomy 21
Illustration of the facial features of Down syndrome
Illustration of the facial features of Down syndrome
SpecialtyMedical genetics, pediatrics
SymptomsDelayed physical growth, characteristic facial features, mild to moderate intellectual disability[1]
CausesThird copy of chromosome 21[2]
Risk factorsOlder age of mother, prior affected child[3][4]
Diagnostic methodPrenatal screening, genetic testing[5]
TreatmentEducational support, sheltered work environment[6][7]
PrognosisLife expectancy 50 to 60 years (developed world)[8][9][10]
Frequency0.1% of newborns (5.4 million)[1][11]
Deaths26,500 (2015)[12]

Down syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21.[2] It is usually associated with physical growth delays, mild to moderate intellectual disability, and characteristic facial features.[1] The average IQ of a young adult with Down syndrome is 50, equivalent to the mental ability of an 8- or 9-year-old child, but this can vary widely.[8]

The parents of the affected individual are usually genetically normal.[13] The probability increases from less than 0.1% in 20-year-old mothers to 3% in those of age 45.[3] The extra chromosome is believed to occur by chance, with no known behavioral activity or environmental factor that changes the probability.[14] Down syndrome can be identified during pregnancy by prenatal screening followed by diagnostic testing or after birth by direct observation and genetic testing.[5] Since the introduction of screening, pregnancies with the diagnosis are often terminated.[15][16] Regular screening for health problems common in Down syndrome is recommended throughout the person's life.[8]

There is no cure for Down syndrome.[17] Education and proper care have been shown to improve quality of life.[6] Some children with Down syndrome are educated in typical school classes, while others require more specialized education.[7] Some individuals with Down syndrome graduate from high school, and a few attend post-secondary education.[18] In adulthood, about 20% in the United States do paid work in some capacity,[19] with many requiring a sheltered work environment.[7] Support in financial and legal matters is often needed.[9] Life expectancy is around 50 to 60 years in the developed world with proper health care.[8][9][10]

Down syndrome is one of the most common chromosome abnormalities in humans.[8] It occurs in about 1 in 1,000 babies born each year.[1] In 2015, Down syndrome was present in 5.4 million individuals globally and resulted in 27,000 deaths, down from 43,000 deaths in 1990.[11][12][20] It is named after British doctor John Langdon Down, who fully described the syndrome in 1866.[21] Some aspects of the condition were described earlier by French psychiatrist Jean-Étienne Dominique Esquirol in 1838 and French physician Édouard Séguin in 1844.[22] The genetic cause of Down syndrome was discovered in 1959.[21]


References

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  1. ^ a b c d Weijerman, ME; de Winter, JP (Dec 2010). "Clinical practice. The care of children with Down syndrome". European Journal of Pediatrics. 169 (12): 1445–52. doi:10.1007/s00431-010-1253-0. PMC 2962780. PMID 20632187.
  2. ^ a b Patterson, D (Jul 2009). "Molecular genetic analysis of Down syndrome". Human Genetics. 126 (1): 195–214. doi:10.1007/s00439-009-0696-8. PMID 19526251.
  3. ^ a b Cite error: The named reference Mor2002 was invoked but never defined (see the help page).
  4. ^ "Down syndrome - Symptoms and causes". Mayo Clinic. Archived from the original on 8 March 2019. Retrieved 17 March 2019.
  5. ^ a b "How do health care providers diagnose Down syndrome?". Eunice Kennedy Shriver National Institute of Child Health and Human Development. 2014-01-17. Archived from the original on 7 March 2016. Retrieved 4 March 2016.
  6. ^ a b Roizen, NJ; Patterson, D (April 2003). "Down's syndrome". Lancet (Review). 361 (9365): 1281–89. doi:10.1016/S0140-6736(03)12987-X. PMID 12699967.
  7. ^ a b c "Facts About Down Syndrome". National Association for Down Syndrome. Archived from the original on 3 April 2012. Retrieved 20 March 2012.
  8. ^ a b c d e Malt, EA; Dahl, RC; Haugsand, TM; Ulvestad, IH; Emilsen, NM; Hansen, B; Cardenas, YE; Skøld, RO; Thorsen, AT; Davidsen, EM (Feb 5, 2013). "Health and disease in adults with Down syndrome". Tidsskrift for den Norske Laegeforening: Tidsskrift for Praktisk Medicin, NY Raekke. 133 (3): 290–94. doi:10.4045/tidsskr.12.0390. PMID 23381164.
  9. ^ a b c Kliegma, Robert M. (2011). "Down Syndrome and Other Abnormalities of Chromosome Number". Nelson textbook of pediatrics (19th ed.). Philadelphia: Saunders. pp. Chapter 76.2. ISBN 978-1-4377-0755-7.
  10. ^ a b Cite error: The named reference Ts2020 was invoked but never defined (see the help page).
  11. ^ a b GBD 2015 Disease and Injury Incidence and Prevalence, Collaborators. (8 October 2016). "Global, regional, and national incidence, prevalence, and years lived with disability for 310 diseases and injuries, 1990–2015: a systematic analysis for the Global Burden of Disease Study 2015". Lancet. 388 (10053): 1545–1602. doi:10.1016/S0140-6736(16)31678-6. PMC 5055577. PMID 27733282. {{cite journal}}: |first1= has generic name (help)CS1 maint: numeric names: authors list (link)
  12. ^ a b GBD 2015 Mortality and Causes of Death, Collaborators. (8 October 2016). "Global, regional, and national life expectancy, all-cause mortality, and cause-specific mortality for 249 causes of death, 1980–2015: a systematic analysis for the Global Burden of Disease Study 2015". Lancet. 388 (10053): 1459–1544. doi:10.1016/s0140-6736(16)31012-1. PMC 5388903. PMID 27733281. {{cite journal}}: |first1= has generic name (help)CS1 maint: numeric names: authors list (link)
  13. ^ Hammer, edited by Stephen J. McPhee, Gary D. (2010). "Pathophysiology of Selected Genetic Diseases". Pathophysiology of disease : an introduction to clinical medicine (6th ed.). New York: McGraw-Hill Medical. pp. Chapter 2. ISBN 978-0-07-162167-0. {{cite book}}: |first= has generic name (help)CS1 maint: multiple names: authors list (link)
  14. ^ "What causes Down syndrome?". 2014-01-17. Archived from the original on 5 January 2016. Retrieved 6 January 2016.
  15. ^ Natoli, JL; Ackerman, DL; McDermott, S; Edwards, JG (Feb 2012). "Prenatal diagnosis of Down syndrome: a systematic review of termination rates (1995–2011)". Prenatal Diagnosis. 32 (2): 142–53. doi:10.1002/pd.2910. PMID 22418958.
  16. ^ Mansfield, C; Hopfer, S; Marteau, TM (Sep 1999). "Termination rates after prenatal diagnosis of Down syndrome, spina bifida, anencephaly, and Turner and Klinefelter syndromes: a systematic literature review. European Concerted Action: DADA (Decision-making After the Diagnosis of a fetal Abnormality)". Prenatal Diagnosis. 19 (9): 808–12. doi:10.1002/(sici)1097-0223(199909)19:9<808::aid-pd637>3.0.co;2-b. PMID 10521836.
  17. ^ "Down Syndrome: Other FAQs". 2014-01-17. Archived from the original on 6 January 2016. Retrieved 6 January 2016.
  18. ^ Steinbock, Bonnie (2011). Life before birth the moral and legal status of embryos and fetuses (2nd ed.). Oxford: Oxford University Press. p. 222. ISBN 978-0-19-971207-6. Archived from the original on 2017-01-23.
  19. ^ Szabo, Liz (May 9, 2013). "Life with Down syndrome is full of possibilities". USA Today. Archived from the original on 8 January 2014. Retrieved 7 February 2014.
  20. ^ GBD 2013 Mortality and Causes of Death, Collaborators (17 December 2014). "Global, regional, and national age-sex specific all-cause and cause-specific mortality for 240 causes of death, 1990–2013: a systematic analysis for the Global Burden of Disease Study 2013". Lancet. 385 (9963): 117–71. doi:10.1016/S0140-6736(14)61682-2. PMC 4340604. PMID 25530442. {{cite journal}}: |first1= has generic name (help)CS1 maint: numeric names: authors list (link)
  21. ^ a b Hickey, F; Hickey, E; Summar, KL (2012). "Medical update for children with Down syndrome for the pediatrician and family practitioner". Advances in Pediatrics. 59 (1): 137–57. doi:10.1016/j.yapd.2012.04.006. PMID 22789577.
  22. ^ Evans-Martin, F. Fay (2009). Down syndrome. New York: Chelsea House. p. 12. ISBN 978-1-4381-1950-2.
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