Down syndrome

chromosomal condition characterized by flat-looking facial features and weak muscle tone in infancy

Down syndrome (or trisomy 21) is a genetic disorder. Most people with Down Syndrome have an extra copy of chromosome 21, or part of it.

An eight-year-old boy
An eight-year-old boy with Down syndrome

Down syndrome causes a mental handicap. It may be mild or severe. The average IQ of a young adult with Down syndrome is 50, equivalent to the mental age of an 8- or 9-year-old child, but it truly depends on the person.[1][2][3] This can vary widely, but most individuals need supervision if they are to live their lives in a satisfactory way. Children who have this condition take more time to learn new things.

The condition is named after John Langdon Down, the British doctor who first described it in 1866. He called it mongoloid idiocy because he thought that children with Down syndrome had faces like that of Blumenbach's Mongolian race (a historical categorization now "East Asian"). The term "mongoloid idiocy" is not used today; it is considered an offensive term.

There is discrimination against people with Down syndrome, both in the education system and in society in general.[4] Some people with the condition may have average intelligence but may also have other noticeable features of the disability. For example, people with Down syndrome often have a different shape of eyes than those without the syndrome. Some people with the condition have severe learning difficulties.

Of every 800 to 1000 babies that are born, one is diagnosed with Down syndrome. Older women have a higher chance of having a baby with Down syndrome.[5] If they have a procedure known as amniocentesis, pregnant mothers can be told whether their foetus has Down syndrome. Sound scans may also diagnose the presence of Down Syndrome. Mothers whose foetus is diagnosed as having Downs syndrome may choose to have an abortion. In the United Kingdom and Europe 92% of such cases are aborted.[6]

There are several options for care of individuals with Down syndrome as they grow older; many individuals are able to live independently or with the support of a PCA.

Features change

A child with Down syndrome building a bookcase

They also grow differently from other children. Babies with down syndrome can be identified at birth because they may have a specific set of physical features. These features include narrow eyes, a flat nose-bridge, smaller mouths and shorter fingers. Smaller mouths can result in tongue protrusion or what looks like a large tongue. Sometimes the little fingers curve inwards as well, and there is also often a space between the big toe and the others. People with Down syndrome often have heart defects or Alzheimer's disease when they are older. About 90% of people with Down syndrome live through their teens. The lifespan of a person with Down syndrome averages between 50 and 55 years old.

So far there have been no treatments for Down syndrome.[5]

Genetic causes change

Down syndrome comes from a problem with the genes. Humans are diploid organisms. This means that for each chromosome, there are two copies, one from the mother, and one from the father. During meiosis the number is reduced to one set of chromosomes. People with Down syndrome have an extra copy of chromosome 21, or part of it.

There are three ways that Down syndrome is caused. The most common cause of Down syndrome is trisomy. Trisomy is when the child receives two chromosomes from the mother and one from the father. This makes it so there are three chromosomes of chromosome #21. Another way Down syndrome is caused is when new cells are made. Sometimes even when the parent cells are normal chromosome 21 can be deformed when cells reproduce. This makes it so some cells have 47 chromosomes and others have 46. This is called a mosaic disorder. Mosaic means that they have a third chromosome from the replication of cells. The third way Down syndrome can be caused is called translocation. This happens when a normal chromosome breaks into two pieces. This results in three chromosomes.[7]

Well-known people with Down syndrome change

Scottish award-winning movie and TV actress Paula Sage receives her BAFTA award with Brian Cox.
  • Stephane Ginnsz, actor (Duo)—In 1996 was first actor with Down syndrome in the lead part of a motion picture.[8]
  • Paula Sage, Scottish movie actress and Special Olympics netball athlete.[12] Her role in the 2003 movie AfterLife[13] brought her a BAFTA Scotland award for best first time performance and Best Actress in the Bratislava International Film Festival, 2004.[14] Afterlife won the Audience Award at The Edinburgh Film Festival 2003. It also won Sage a role as Donna McCabe in BBC Scotland's River City soap.
  • Johnny Stallings, son of former University of Alabama head football coach Gene Stallings and subject of the book Another Season: A Coach's Story of Raising an Exceptional Son. (ISBN 0-7679-0255-6).[16]
  • Miguel Tomasin, singer with Argentinian avant-rock band Reynols.[17]

References change

  1. Malt E.A. et al 2013. Health in adults with Down syndrome". Tidsskrift for den Norske laegeformning : tidsskrift for praktisk medicin, ny raekke 133 (3): 290–4. [1]
  2. Weijerman M.E. & de Winter J.P. 2010. Clinical practice. The care of children with Down syndrome". European journal of pediatrics 169 (12): 1445–52. [2]
  3. Reilly C. 2012 (2012). "Behavioural phenotypes and special educational needs: is aetiology important in the classroom?". Journal of Intellectual Disability Research : JIDR. 56 (10): 929–46. doi:10.1111/j.1365-2788.2012.01542.x. PMID 22471356.{{cite journal}}: CS1 maint: numeric names: authors list (link)
  4. "Fox News". Fox News.
  5. 5.0 5.1 Gale Encyclopedia of Nursing and Allied Health, 3rd ed., Detroit: Gale, 2013, pp. 1117-1122.
  6. Mansfield, C.; Hopfer, S.; Marteau, T. M. (1 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): 808–812. doi:10.1002/(SICI)1097-0223(199909)19:9<808::AID-PD637>3.0.CO;2-B. PMID 10521836. S2CID 29637272 – via PubMed.
  7. "Down Syndrome." Sick! Detroit: UXL, 2000. Student Resources in Context. Web. 22 Feb. 2016.
  8. Stephane Ginnsz Danny Alsabbagh as Toby, one of Mr. G's Special Education students in the Australia series Summer Heights High. "Film Actor with Down Syndrome". Retrieved 2006-12-08.
  9. "My lovely son, the Hollywood star". Mail Online.
  10. Lomon, Chris (2003). "NHL Alumni RBC All-Star Awards Dinner". NHL Alumni. Archived from the original on 2008-05-29. Retrieved 2006-12-08.
  11. "Pujols Family Foundation Home Page". Archived from the original on 2006-12-07. Retrieved 2006-12-08.
  12. "Special Olympic Athlete Stars in Movie". Archived from the original on 2007-12-22. Retrieved 2007-11-05.
  13. "AfterLife Movie Review (2003)from Channel 4 Film". Retrieved 2007-04-21.
  14. "Bratislava International Film festival 2004". IMDb. Archived from the original on 2008-12-12. Retrieved 2007-11-05.
  15. Joyce Scott (2006). "Entwined - the life of Judith Scott". Judith Scott Foundation. Archived from the original on 2006-12-15. Retrieved 2006-12-08.
  16. Mason, Carolyn. Life on the Ranch:Gene Stallings may live in Texas, but he's taken a piece of Alabama with him. Archived 2008-12-04 at the Wayback Machine The Tuscaloosa News (7 September 2006). Retrieved 5 December 2006.
  17. Dan Warburton (2003). "Interview: Reynols". Judith Scott Foundation. Retrieved 2006-12-08.
  18. "Karen Gaffney Foundation". Retrieved 2008-03-07.
  19. "Down Syndrome Takes Center Stage On Fox's Glee - Disability Scoop". 12 April 2010. Retrieved November 26, 2010.

Bibliography change

  • Beck, M.N. (1999). Expecting Adam. New York: Berkley Books.
  • Buckley, S. (2000). Living with Down Syndrome. Portsmouth, UK: The Down Syndrome Educational Trust. Archived from the original on 2005-04-21. Retrieved 2006-08-09.
  • Down Syndrome Research Foundation (2005). Bright Beginnings: A Guide for New Parents. Buckinghamshire, UK: Down Syndrome Research Foundation. Archived from the original on 2006-08-20. Retrieved 2006-08-09.
  • Hassold, T.J.; D. Patterson (1999). Down Syndrome: A Promising Future, Together. New York: Wiley Liss.
  • Kingsley, J.; M. Levitz (1994). Count us in — Growing up with Down Syndrome. San Diago: Harcourt Brace.
  • Pueschel, S.M.; M. Sustrova (1997). Adolescents with Down Syndrome: Toward a More Fulfilling Life. Baltimore, MD USA: Paul H. Brookes.
  • Selikowitz, M. (1997). Down Syndrome: The Facts (2nd ed.). Oxford: Oxford University Press. ISBN 978-0-19-262662-2.
  • Van Dyke, D.C. (1995). Medical and Surgical Care for Children with Down Syndrome. P.J. Mattheis; S. Schoon Eberly; and J. Williams. Bethesda, MD USA: Woodbine House.
  • Zuckoff, M. (2002). Choosing Naia: A Family's Journey. New York: Beacon Press.

Other websites change

For comprehensive lists of Down syndrome links see

Societies and Associations change

By Country

Conferences change