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Down syndrome

From Wikipedia
Down syndrome
Other namesDown's syndrome, Down's, trisomy 21
Eight year old boy with Down syndrome
An eight-year-old boy wey dey display characteristic facial features of Down syndrome
SpecialtyMedical genetics, pediatrics
SymptomsDelayed development, characteristic physical features, mild to moderate intellectual disability
Usual onsetMostly at conception, rarely after fertilization
DurationLifelong
CausesThird copy of chromosome 21[1]
Risk factorsOlder age of mommie, prior affected kiddie[2]
Diagnostic methodPrenatal screening, genetic testing
TreatmentPhysical therapy, Occupational therapy, Speech therapy, Educational support, Supported work environment
PrognosisLife expectancy 50 to 60 years (developed world)
Frequency5.4 million (0.1%)
Named afterJohn Langdon Down

Down syndrome anaa Down's syndrome,[3] dem sanso know am as trisomy 21, be a genetic disorder wey be caused by de presence of all anaa part of a third copy of chromosome 21.[1] E be usually associated plus developmental delays, mild to moderate intellectual disability, den characteristic physical features.[4][5]

De parents of de affected individual be usually genetically normal.[6] De incidence of de syndrome dey increase plus de age of de mommie, from less dan 0.1% for 20-year-old mommies to 3% for those of age 45.[7] E be believed make e occur by chance, plus no known behavioral activity anaa environmental factor wey dey change de probability.[8] Usually, babies get 23 chromosomes from each parent for a total of 46, whereas insyd Down syndrome, a third 21st chromosome be attached.[9] De extra chromosome be provided for conception as de egg den sperm combine.[10] Insyd 1–2% of cases, de additional chromosome be added insyd de embryo stage wey e dey impact per sam of de cells insyd de body; dis be known as Mosaic Down syndrome.[9][11] Translocation Down syndrome be anoda rare type.[12][13] Down syndrome fi be identified during pregnancy by prenatal screening, wey be followed by diagnostic testing, anaa after birth by direct observation den genetic testing.[14] Since de introduction of screening, Down syndrome pregnancies be often aborted (rates wey dey vary from 50 to 85% wey dey depend on maternal age, gestational age, den maternal race/ethnicity).[15][16][17]

Signs den symptoms

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A boy from Somalia plus Down syndrome

Those plus Down syndrome nearly always get physical den intellectual disabilities.[18] As adults, dema mental abilities be typically similar to those of an 8- anaa 9-year-old.[19] For de same time, dema emotional den social awareness be very high.[20] Dem fi get poor immune function[6] den generally reach developmental milestones for a later age.[21] Dem get an increased risk of a number of health concerns, such as congenital heart defect, epilepsy, leukemia, den thyroid diseases.[22]

Characteristics Percentage Characteristics Percentage
Mental impairment 99%[23] Abnormal teeth 60%[24]
Stunted growth 90%[25] Slanted eyes 60%[6]
Umbilical hernia 90%[26] Shortened hands 60%[24]
Increased skin on back of neck 80%[22] Short neck 60%[24]
Low muscle tone 80%[27] Obstructive sleep apnea 60%[22]
Narrow roof of mouth 76%[24] Bent fifth finger tip 57%[6]
Flat head 75%[6] Brushfield spots insyd de iris 56%[6]
Flexible ligaments 75%[6] Single transverse palmar crease 53%[6]
Proportionally large tongue[28] 75%[27] Protruding tongue 47%[24]
Abnormal outer ears 70%[22] Congenital heart disease 40%[24]
Flattened nose 68%[6] Strabismus ≈35%[4]
Separation of first and second toes 68%[24] Undescended testicles 20%[29]
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Chris Burke, an actor plus Down syndrome, born insyd 1965

Individuals

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  • Jamie Brewer be an American actress den model. She best be known for ein roles insyd de FX horror anthology television series American Horror Story.[30]
  • Sofía Jirau be a Puerto Rican model plus Down syndrome, wey dey work plus designers den media outlets such as Vogue Mexico, People, den Hola!.[31][32][33]
  • Chris Nikic be de first person plus Down syndrome make he fini an Ironman Triathlon.[34] Na dem award am de Jimmy V Award for Perseverance for de 2021 ESPY Awards.[35]
  • Grace Strobel be an American model den de first person plus Down Syndrome make she represent an American skin-care brand.[36] Na she first join Obagi insyd 2020, wey she continue be an Ambassador give de brand as of 2022.[37][38]

Television den film

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  • Life Goes On be an American drama television series wey be aired for American Broadcasting Company (ABC) from September 12, 1989, to May 23, 1993.[39] De show dey center for de Thatcher family wey dey live insyd suburban Chicago: Drew, ein wifey Libby, den dema children Paige, Rebecca den Charles. Charles, dem call Corky for de show top wey be portrayed by Chris Burke, na he be de first major character on a television series plus Down syndrome.[40]
  • Struck by Lightning, an Australian film by Jerzy Domaradzki wey dey star Garry McDonald, be a comedy-drama wey dey depict de efforts by a newly appointed physical education teacher make dem introduce soccer to a specialized school give youths plus Down syndrome.
  • Champions (2023) be a film wey dey star four main actors plus Down syndrome: Madison Tevlin, Kevin Iannucci, Matthew Von Der Ahe den James Day Keith.[41] E be an American sports comedy film wey be directed by Bobby Farrelly insyd ein solo directorial debut, from a screenplay wey Mark Rizzo wrep.
  • Born This Way be an American reality television series wey be produced by Bunim/Murray Productions wey dey feature seven adults plus Down syndrome wey dem work hard make dem achieve goals den overcome obstacles.[42] Na de show receive a Television Academy Honor insyd 2016.[43]
  • The Peanut Butter Falcon be a 2019 American comedy-drama film wey Tyler Nilson den Michael Schwartz wrep den direct, insyd dema directorial film debut, den dey star Zack Gottsagen, Shia LaBeouf, Dakota Johnson den John Hawkes.[44] De plot dey follow a young man plus Down syndrome wey escape from an assisted living facility, so say he go follow ein dream of make he be a wrestler, wey he befriend a wayward fisherman on de run. As de two men form a rapid bond, a social worker attempt make dem track dem.[45]

Music

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  • De Devo song "Mongoloid" be about sam bro plus Down syndrome.
  • De Amateur Transplants song "Your Baby" be about a fetus plus Down syndrome.

Toys

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  • Insyd 2023, na Mattel release a Barbie doll plus characteristics of a person wey get Down syndrome as a way make dem promote diversity.[46]

References

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  1. ↑ 1.0 1.1 Patterson D (July 2009). "Molecular genetic analysis of Down syndrome". Human Genetics. 126 (1): 195–214. doi:10.1007/s00439-009-0696-8. ISSN 0340-6717. PMID 19526251. S2CID 10403507.
  2. ↑ "Down syndrome – Symptoms and causes". Mayo Clinic (in English). Retrieved 17 March 2019.
  3. ↑ Smith K (2011). The politics of Down syndrome. [New Alresford, Hampshire]: Zero. p. 3. ISBN 978-1-84694-613-4. Archived from the original on 2017-01-23.
  4. ↑ 4.0 4.1 Weijerman ME, de Winter JP (December 2010). "Clinical practice. The care of children with Down syndrome". European Journal of Pediatrics. 169 (12): 1445–1452. doi:10.1007/s00431-010-1253-0. PMC 2962780. PMID 20632187.
  5. ↑ "What are common symptoms of Down syndrome?". NIH Eunice Kennedy Shriver National Institute of Child Health and Human Development. 31 January 2017. Retrieved 28 March 2023.
  6. ↑ 6.0 6.1 6.2 6.3 6.4 6.5 6.6 6.7 6.8 Hammer GD (2010). "Pathophysiology of Selected Genetic Diseases". In McPhee SJ (ed.). Pathophysiology of disease: an introduction to clinical medicine (6th ed.). New York: McGraw-Hill Medical. pp. Chapter 2. ISBN 978-0-07-162167-0.
  7. ↑ Morris JK, Mutton DE, Alberman E (2002). "Revised estimates of the maternal age specific live birth prevalence of Down's syndrome". Journal of Medical Screening. 9 (1): 2–6. doi:10.1136/jms.9.1.2. PMID 11943789.
  8. ↑ "What causes Down syndrome?". National Institute of Child Health and Human Development. U.S. National Institutes of Health. 2014-01-17. Archived from the original on 5 January 2016. Retrieved 6 January 2016.
  9. ↑ 9.0 9.1 "The Genetics of Down's Syndrome". www.intellectualdisability.info (in English). Retrieved 2023-04-01.
  10. ↑ "Facts About Down Syndrome". National Association for Down Syndrome (in American English). Retrieved 2023-04-01.
  11. ↑ "LSUHSC School of Medicine". www.medschool.lsuhsc.edu. Retrieved 2023-04-01.
  12. ↑ "Facts about Down Syndrome | CDC". Centers for Disease Control and Prevention (in American English). 2021-04-06. Retrieved 2023-03-31.
  13. ↑ "About Down Syndrome | National Down Syndrome Society (NDSS)". ndss.org (in English). Retrieved 2023-03-28.
  14. ↑ "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.
  15. ↑ Seror V, L'Haridon O, Bussières L, Malan V, Fries N, Vekemans M, et al. (March 2019). "Women's Attitudes Toward Invasive and Noninvasive Testing When Facing a High Risk of Fetal Down Syndrome". JAMA Network Open. 2 (3): e191062. doi:10.1001/jamanetworkopen.2019.1062. PMC 6450316. PMID 30924894.
  16. ↑ Natoli JL, Ackerman DL, McDermott S, Edwards JG (February 2012). "Prenatal diagnosis of Down syndrome: a systematic review of termination rates (1995-2011)". Prenatal Diagnosis. 32 (2): 142–153. doi:10.1002/pd.2910. PMID 22418958.
  17. ↑ Mansfield C, Hopfer S, Marteau TM (September 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). Wiley: 808–812. doi:10.1002/(sici)1097-0223(199909)19:9<808::aid-pd637>3.0.co;2-b. PMID 10521836. S2CID 29637272.
  18. ↑ Faragher R, Clarke B, eds. (2013). "Introduction". Educating Learners with Down Syndrome: Research, theory, and practice with children and adolescents. Taylor & Francis. p. 5. ISBN 978-1-134-67335-3. Archived from the original on 2017-01-23.
  19. ↑ Malt EA, Dahl RC, Haugsand TM, Ulvestad IH, Emilsen NM, Hansen B, et al. (February 2013). "Health and disease in adults with Down syndrome". Tidsskrift for den Norske Laegeforening. 133 (3): 290–294. doi:10.4045/tidsskr.12.0390. PMID 23381164.
  20. ↑ Hippolyte L, Iglesias K, Van der Linden M, Barisnikov K (August 2010). "Social reasoning skills in adults with Down syndrome: the role of language, executive functions and socio-emotional behaviour". Journal of Intellectual Disability Research. 54 (8): 714–726. doi:10.1111/j.1365-2788.2010.01299.x. PMID 20590998.
  21. ↑ Kliegma RM (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.
  22. ↑ 22.0 22.1 22.2 22.3 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). Elsevier BV: 137–157. doi:10.1016/j.yapd.2012.04.006. PMID 22789577.
  23. ↑ Johnston JM, Smyth MD, McKinstry RC (2008). "Basics of Neuroimaging in Pediatric Epilepsy". In Pellock JM, Bourgeois BF, Dodson WE, Nordli Jr DR, Sankar R (eds.). Pediatric epilepsy diagnosis and therapy (3rd ed.). New York: Demos Medical Pub. p. Chapter 67. ISBN 978-1-934559-86-4. Archived from the original on 2017-01-23.
  24. ↑ 24.0 24.1 24.2 24.3 24.4 24.5 24.6 Epstein CJ (2007). The consequences of chromosome imbalance: principles, mechanisms, and models. Cambridge: Cambridge University Press. pp. 255–256. ISBN 978-0-521-03809-6. Archived from the original on 2017-01-23.
  25. ↑ Marion RW, Samanich JN (2012). "Genetics". In Bernstein D, Shelov SP (eds.). Pediatrics for medical students (3rd ed.). Philadelphia: Wolters Kluwer Health/Lippincott Williams & Wilkins. p. 259. ISBN 978-0-7817-7030-9. Archived from the original on 2017-01-23.
  26. ↑ Bertoti DB, Smith DE (2008). "Mental Retardation: Focus on Down Syndrome". In Tecklin JS (ed.). Pediatric physical therapy (4th ed.). Philadelphia: Lippincott Williams & Wilkins. p. 380. ISBN 978-0-7817-5399-9. Archived from the original on 2017-01-23.
  27. ↑ 27.0 27.1 Domino FJ, ed. (2007). The 5-minute clinical consult 2007 (2007 ed.). Philadelphia: Lippincott Williams & Wilkins. p. 392. ISBN 978-0-7817-6334-9. Archived from the original on 2017-01-23.
  28. ↑ Perkins JA (December 2009). "Overview of macroglossia and its treatment". Current Opinion in Otolaryngology & Head and Neck Surgery. 17 (6): 460–465. doi:10.1097/moo.0b013e3283317f89. PMID 19713845. S2CID 45941755.
  29. ↑ Wilson GN, Cooley WC (2006). Preventive management of children with congenital anomalies and syndromes (2nd ed.). Cambridge: Cambridge University Press. p. 190. ISBN 978-0-521-61734-5. Archived from the original on 2017-01-23.
  30. ↑ Lawton A (2011-11-21). "Interview with Jamie Brewer". MediaMikes (in American English). Retrieved 2023-04-01.
  31. ↑ "Puerto Rican model with Down Syndrome, Sofía Jirau is conquering the fashion world". HOLA (in American English). 2020-02-19. Retrieved 2023-04-01.
  32. ↑ Mier T (17 February 2020). "NYFW: Model with Down Syndrome Says 'There Are No Limits'". Peoplemag (in English). Retrieved 2023-04-01.
  33. ↑ "Sofía Jirau, la modelo latina con síndrome de down que decantó en el Fashion Week de Nueva York". Vogue (in Mexican Spanish). 2020-02-13. Retrieved 2023-04-01.
  34. ↑ "Nikic becomes first person with Down's syndrome to finish Ironman". BBC Sport (in British English). Retrieved 2023-04-01.
  35. ↑ "2021 ESPYS award winners". ESPN.com (in English). 2021-07-10. Retrieved 2023-04-01.
  36. ↑ Abelman D (21 March 2021). "Grace Strobel Knows How Good Her Skin Looks". Allure (in American English). Retrieved 2023-04-01.
  37. ↑ Obagi. "Obagi Announces Partnership with Down Syndrome Advocate, Grace Strobel, as new SKINCLUSION Ambassador and Face of New Obagi Clinical Cleanser". www.prnewswire.com (Press release) (in English). Retrieved 2023-04-01.
  38. ↑ Obagi. "Obagi Clinical® Continues Collaboration with Down Syndrome Advocate Grace Strobel". www.prnewswire.com (Press release) (in English). Retrieved 2023-04-01.
  39. ↑ Life Goes On (TV Series 1989–1993) - IMDb, retrieved 2023-04-01
  40. ↑ "Life Goes On Actor Chris Burke on Being the First Primetime Television Star with Down Syndrome". Oprah.com. Archived from the original on 14 August 2015. Retrieved 2023-04-01.
  41. ↑ Champions (2023) - IMDb, retrieved 2023-04-01
  42. ↑ "Born This Way". Television Academy (in English). Retrieved 2023-04-01.
  43. ↑ Heasley S (2015-11-16). "New TV Series Features Young Adults With Down Syndrome". Disability Scoop (in English). Retrieved 2023-04-01.
  44. ↑ The Peanut Butter Falcon (2019) - IMDb, retrieved 2023-04-01
  45. ↑ "The Peanut Butter Falcon". Lionsgate. Retrieved 1 April 2023.
  46. ↑ Marsh, Sarah (25 April 2023). "Barbie doll with Down's syndrome launched by Mattel". The Guardian.

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