Down syndrome

From Wikipedia, the free encyclopedia
Jump to: navigation, search
An eight-year-old boy
An eight-year-old boy with Down syndrome

Down syndrome (or Down's syndrome or trisomy 21; old name mongoloid idiocy) is a genetic disorder. People with Down syndrome have an extra copy of chromosome 21, or part of it.

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.[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. Idiocy meant intellectual disability. People do not use the term "mongoloid idiocy" today. It is a disparaging, or disrespectful, term.

There is sometimes discrimination against people with Down syndrome, both in the education system and in society in general.[4] Some people with the condition have average intelligence, but may have other problems with development instead. People with Down syndrome often have a different shape of eyes than most people. A few 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 Downs. 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]

Features[change | change source]

A child with Down syndrome building a bookcase (the drill is not in action in this photograph)

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 | change source]

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 | change source]

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.

The Down Syndrome Association of Los Angeles keeps a list of people with Down syndrome with roles in TV and movies.[20]

References[change | change source]

  1. Malt E.A. et al 2013. Health and disease in adults with Down syndrome". Tidsskrift for den Norske laegeforening : 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. "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.
  4. Fox News
  5. 5.0 5.1 Gale Encyclopedia of Nursing and Allied Health, 3rd ed., Detroit: Gale, 2013, pp. 1117-1122.
  6. https://www.ncbi.nlm.nih.gov/pubmed/10521836
  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". ginnsz.com. http://www.stephane.ginnsz.com/. Retrieved 2006-12-08.
  9. My lovely son, the Hollywood star, Daily mail, December 30, 2006; Max Lewis on the Internet Movie Database
  10. Lomon, Chris (2003). "NHL Alumni RBC All-Star Awards Dinner". NHL Alumni. http://www.nhlalumni.com/slam/hockey/nhlalumni/news/03/0228.html. Retrieved 2006-12-08.
  11. "Pujols Family Foundation Home Page". http://www.pujolsfamilyfoundation.org/index2.html. Retrieved 2006-12-08.
  12. "Special Olympic Athlete Stars in Movie". http://www.specialolympics.org/Special+Olympics+Public+Website/English/Press_Room/Global_News_Archive/2004+Global+News+Archive/Special+Olympics+athlete+stars+in+movie.htm. Retrieved 2007-11-05.
  13. "AfterLife Movie Review (2003)from Channel 4 Film". http://www.channel4.com/film/reviews/film.jsp?id=134586. Retrieved 2007-04-21.
  14. "Bratislava International Film festival 2004". http://www.imdb.com/Sections/Awards/Bratislava_International_Film_Festival/2004. Retrieved 2007-11-05.
  15. Joyce Scott (2006). "Entwined - the life of Judith Scott". Judith Scott Foundation. http://www.hidden-worlds.com/judithscott/entwined.htm. 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. The Tuscaloosa News (7 September 2006). Retrieved 5 December 2006.
  17. Dan Warburton (2003). "Interview: Reynols". Judith Scott Foundation. http://www.paristransatlantic.com/magazine/interviews/reynols.html. Retrieved 2006-12-08.
  18. "Karen Gaffney Foundation". http://www.karengaffneyfoundation.com/. Retrieved 2008-03-07.
  19. "Down Syndrome Takes Center Stage On Fox's Glee - Disability Scoop". disabilityscoop.com. http://www.disabilityscoop.com/2010/04/12/lauren-potter-glee/7618/. Retrieved November 26, 2010.
  20. Down Syndrome Association of Los Angeles. Media Archive: Television and Film that include individuals with Down Syndrome. Retrieved 1 December 2006.

Bibliography[change | change source]

  • Beck, M.N. (1999). Expecting Adam. New York: Berkley Books.
  • Buckley, S. (2000). Living with Down Syndrome. Portsmouth, UK: The Down Syndrome Educational Trust. http://www.down-syndrome.info/library/dsii/01/01/.
  • Down Syndrome Research Foundation (2005). Bright Beginnings: A Guide for New Parents. Buckinghamshire, UK: Down Syndrome Research Foundation. http://www.dsrf.co.uk/Reading_material/Bright_beginnings.htm.
  • Hassold, T.J.; D. Patterson (1999). editors,. ed. 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). editors,. ed. Adolescents with Down Syndrome: Toward a More Fulfilling Life. Baltimore, MD USA: Paul H. Brookes.
  • Selikowitz, M. (1997). Down Syndrome: The Facts (2nd edition ed.). Oxford: Oxford University Press.
  • Van Dyke, D.C.; P.J. Mattheis; S. Schoon Eberly; and J. Williams (1995). Medical and Surgical Care for Children with Down Syndrome. Bethesda, MD USA: Woodbine House.
  • Zuckoff, M. (2002). Choosing Naia: A Family's Journey. New York: Beacon Press.

Other websites[change | change source]

For comprehensive lists of Down syndrome links see

Societies and Associations[change | change source]

By Country

Conferences[change | change source]