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Down syndrome in lay language

May 24th, 2007

Down syndrome, also known as Trisomy 21, is a naturally occurring condition in which a person has three copies of the 21st chromosome rather than two copies. It is the most commonly occurring genetic mutation, and the one most frequently diagnosed prenatally. It has no known cause. Although medical research is proceeding, no treatments have yet been developed to improve cognition in people with DS. It is estimated that 350,000 Americans have Down syndrome. In the United States, between 85 and 90 percent of prenatally diagnosed cases of Down syndrome end in abortion.

People with Down syndrome have historically faced discrimination and exclusion, and were regularly institutionalized, imprisoned and involuntarily sterilized well into the 20th century. Until the 1970s, they were routinely denied access to education. They still lack appropriate health care and housing in many cases.

Educational access is now protected by law, and as a consequence people with Down syndrome are increasingly completing high school, embarking on post-secondary study, and living and working semi-independently. Many of the characteristics that were once thought to be endemic to Down syndrome now seem to have been caused by institutionalization and social ostracism.

All of them have unique personalities and interests, as their family members can tell you. Recent studies report that families of people with Down syndrome are affected more positively than negatively. Waiting lists of families wishing to adopt children with Down syndrome are now being reported. (See Lindh, Heidi L., et al., “Characteristics and perspectives of families waiting to adopt a child with Down Syndrome,” Genetics in Medicine, April, 2007.)

Down syndrome is characterized by developmental delays that are most often mild to moderate, but occasionally can be more severe. It is impossible to predict the extent of these delays based on prenatal diagnosis or observation of other physical symptoms. People with Down syndrome are at a heightened risk of heart problems, most of them surgically correctible, as well as early onset Alzheimer’s disease and leukemia. They often have recognizable facial characteristics, most notably the epicanthal fold of the upper eyelid that is also common in people of Asian descent.

Historically, the condition now known as Down syndrome was wrongly believed to be a racial degeneration, perhaps caused by disease or alcoholism in the mother. In Victorian England the disorder was labeled “mongolism” by doctor John Langdon Down, reflecting the popular Victorian belief that Mongolians were a lower form of human.

The genetic basis of the condition was discovered by Dr. Jerome Lejeune in Paris in 1959. Dr. Lejeune campaigned unsuccessfully against the use of his discovery for the purpose of prenatal screening and abortion, and called for ongoing scientific research into possible treatments for people with DS. In the years since, prenatal screening and abortion have flourished, while funding for research to treat the cognitive symptoms of people with DS has been meager.

In the 1960s, the British medical journal the Lancet recommended that the name “mongolism” be dropped after receiving a letter from leading geneticists charging that the name was “misleading” and had “embarrassing” connotations. Subsequently, the World Health Organization dropped references to the term “mongolism” after receiving a complaint from a Mongolian delegate.

While considered offensive, the term is still in use among some medical professionals and appears in some medical texts as well as in the online prenatal guide of Harvard’s Brigham and Women’s Hospital. “Down syndrome” is the accepted term among professionals in the United States. In France, it is called “Trisomy 21.”

3 Responses to “Down syndrome in lay language”

  1. Atara Melo Says:

    Hello,

    I am seeking academic discussions on language acquisition in children with Down Syndrome, particularly relating to the advantages of a home environment vs. an institutional setting. I know the research exists, but not where.

    Do you know of any such research? I would appreciate any help.

    Please email me at: ataramelo@hotmail.com.

    Thank you,
    Mrs. Atara Melo

  2. Roslynn Rubin, Ed.D Says:

    Found your web site while reading about protests of the movie…thank you for an informative site for connecting with others, and also for information about various disabilities. I will use the links for staff training in in our agency’s Resource Center for parents and staff.

    Regards,

    Dr. Roz Rubin
    Chief Executive Officer
    Greater Waltham ARC
    WALTHAM, MA

  3. M Says:

    Patricia,

    I just want to thank you for being visible, being outspoken, and being honest about the real value of your beautiful daughter. I am saddened and disgusted that more Down syndrome organizations fail to take a position on the elimination of these “imperfect” people from our society. I am mystified that the vast majority of people are truly incapable of understanding why they themselves are not perfect, and have no right to be, and why imperfect people are immensely valuable. The only word I can use to describe the way that I feel about the 90% of people who cannot recognize the value of your daughter is disgust. I wish there were more people with your courage and love.

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More than 50 million people in the United States have disabilities, a number that is growing rapidly as the population ages. Experts say disability will soon affect the lives of most Americans. This website attempts to aggregate news and commentary about disability, and to document the efforts of people who are seeking new ways to address familiar challenges.

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