Down syndrome

An eight-year-old boy with Down syndrome

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

Down syndrome causes amental handicap.It may be mild or severe. The averageIQof 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.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 afterJohn Langdon Down,theBritishdoctorwho first described it in 1866. He called itmongoloididiocybecause he thought that children with Down syndrome had faces like that ofBlumenbach'sMongolian 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.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 ofeyesthan those without the syndrome. Some people with the condition have severe learning difficulties.

Of every 800 to 1000 babies that are born, one isdiagnosedwith Down syndrome. Older women have a higher chance of having a baby with Down syndrome.If they have a procedure known asamniocentesis,pregnant mothers can be told whether theirfoetushas 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 anabortion.In the United Kingdom and Europe 92% of such cases are aborted.

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

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 orAlzheimer's diseasewhen 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.

Genetic causes

Down syndrome comes from a problem with thegenes.Humans arediploidorganisms. This means that for eachchromosome,there are two copies, one from the mother, and one from the father. Duringmeiosisthe 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 istrisomy.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 amosaicdisorder. 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.

Well-known people with Down syndrome

Scottishaward-winning movie and TV actressPaula Sagereceives her BAFTA award withBrian Cox.

• Stephane Ginnsz,actor (Duo)—In 1996 was first actor with Down syndrome in the lead part of a motion picture.

• Max Lewis,actor (Notes on a Scandal).
• Joey Moss,Edmonton Oilerslocker room attendant.

• Isabella Pujols,adopted daughter ofSt. Louis Cardinalsfirst basemanAlbert Pujolsand inspiration for the Pujols Family Foundation.

• Paula Sage,Scottish movie actress andSpecial Olympicsnetball athlete.Her role in the 2003 movieAfterLifebrought her a BAFTA Scotland award for best first time performance and Best Actress in the Bratislava International Film Festival, 2004.Afterlifewon the Audience Award at TheEdinburgh Film Festival2003. It also won Sage a role as Donna McCabe in BBC Scotland'sRiver Citysoap.

• Judith Scott,artist.

• Johnny Stallings,son of formerUniversity of Alabamahead football coachGene Stallingsand subject of the bookAnother Season: A Coach's Story of Raising an Exceptional Son.(ISBN0-7679-0255-6).
• Miguel Tomasin,singer withArgentinianavant-rock bandReynols.

• Chris Burke,American actor who portrayed "Corky Thatcher" on the television seriesLife Goes Onand "Taylor" onTouched By An Angel.
• Edward Barbanell,played Billy in 2005'sThe Ringer.
• Karen Gaffney,Swimmer, Inclusion Activist, Motivational Speaker and President of The Karen Gaffney Foundation.

• Lauren Potter,American actor
• Labeed Mirza, Editor of Tahir Magazine

Bibliography

• 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 fromthe originalon 2005-04-21.Retrieved2006-08-09.
• Down Syndrome Research Foundation (2005).Bright Beginnings: A Guide for New Parents.Buckinghamshire, UK: Down Syndrome Research Foundation. Archived fromthe originalon 2006-08-20.Retrieved2006-08-09.
• 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.ISBN978-0-19-262662-2.
• 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

For comprehensive lists of Down syndrome links see

• Directory of Down Syndrome Internet Sites (US based, but contains international links)
• UK resources for Down's syndromeArchived2006-08-22 at theWayback Machine

Societies and Associations

• Down Syndrome InternationalArchived2021-03-01 at theWayback Machine

By Country

• Canadian Down Syndrome Society (Canada)
• Down Syndrome Research Foundation web site (Canada)
• Down's Syndrome Association web site (UK)Archived2005-06-18 at theWayback Machine
• Down's Syndrome Research Foundation (UK)
• National Down Syndrome Society web site (USA)
• National Down Syndrome Congress web site (USA)
• International Mosaic Down Syndrome Association (USA)

Conferences

• 9th World Down Syndrome Congress (2006, Vancouver)Archived2006-07-15 at theWayback Machine
• Bright Beginnings Conference for Parents and Professionals (2006, London) -- ReportArchived2006-08-20 at theWayback Machine