Down syndrome

A child with Down syndrome building a bookcase.

Down syndrome (also called Down's syndrome or trisomy 21; old name mongoloid idiocy) is a genetic disorder. It 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. They usually have some measure of mental handicap, but this can range from mild to severe.

Children who have this condition take more time to learn new things. They also grow differently from other children. Babies with Down syndrome can be identified at birth because they have a specific set of physical features, including narrow eyes, and flat nose-bridge, large tongues, and shorter fingers. Sometimes the little fingers curve inwards as well, and there is also often a space between the big toe and the others. The condition is named after John Langdon Down, the British doctor who first described it in 1866. He called it mongoloid idiocy, but that term is no longer used today, because of the disparaging nature of the term.

Doctors in the UK usually inform others that people with the condition have a mild to medium learning difficulty. The same is true in the United States, although there is still sometimes discrimination against people with down syndrome, both in the education system and in society in general. 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.

Well-known people with Down syndrome

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.
• Max Lewis, actor (Notes on a Scandal).
• Joey Moss, Edmonton Oilers locker room attendant.
• Isabella Pujols, adopted daughter of St. Louis Cardinals first baseman Albert Pujols and inspiration for the Pujols Family Foundation.
• Paula Sage Scottish movie actress and Special Olympics netball athlete. Her role in the 2003 movie AfterLife brought her a BAFTA Scotland award for best first time performance and Best Actress in the Bratislava International Film Festival, 2004. 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.
• Judith Scott, artist.
• 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).
• Miguel Tomasin, singer with Argentinian avant-rock band Reynols.
• Chris Burke, American actor who portrayed "Corky Thatcher" on the television series Life Goes On and "Taylor" on Touched By An Angel.
• Edward Barbanell, played Billy in 2005's The Ringer.
• Karen Gaffney, Swimmer, Inclusion Activist, Motivational Speaker and President of The Karen Gaffney Foundation.
• Pascal Duquenne, Belgian actor
• Pablo Pineda, Teacher and Spanish actor
• Lauren Potter, American actor

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

Portrayal in fiction

• Bret Lott: Jewel
• Morris West: The Clowns of God
• Bernice Rubens: A Solitary Grief
• Emily Perl Kingsley: Welcome to Holland
• The Kingdom and its American counterpart, Kingdom Hospital
• Elizabeth Laird: Red Sky in the Morning
• Stephen King: Dreamcatcher
• Dean Koontz: The Bad Place
• Flannery O'Connor: The Violent Bear It Away
• William Faulkner: Benjamin Compson in The Sound and the Fury
• Kim Edwards: The Memory Keeper's Daughter

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. 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 (2^nd 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

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 syndrome

Societies and Associations

• Down Syndrome International

By Country

• Canadian Down Syndrome Society (Canada)
• Down Syndrome Research Foundation web site (Canada)
• Down's Syndrome Association web site (UK)
• 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)
• Bright Beginnings Conference for Parents and Professionals (2006, London) -- Report