What is it?

Down syndrome is the most commonly occurring chromosomal condition. It happens when some or all of a person’s cells have an
karyotype exampleextra full or partial copy of chromosome 21. Therefore, people with Down syndrome have 47 chromosomes instead of the usual 46. This extra genetic material changes how a fetus develops and causes the characteristics associated with Down syndrome.

A few of the most common physical traits are low muscle tone, small stature, an upward slant to the eyes and a single deep crease across the center of the palm. These traits also occur in the general population, but with less frequency. Each person who has Down syndrome is a unique individual and may possess these characteristics to different degrees or not at all.

Down syndrome occurs in people of all races and economic levels. The incidence of births of children with Down syndrome increases with the age of the mother, but, because younger women have a higher fertility rate, 80% of children with Down syndrome are born to women under the age of 35.

 Quality of Life

Quality educational programs, a stimulating home environment, good health care, and positive support from family, friends and the community enable people with Down syndrome to develop their full potential and lead fulfilling lives. People with Down syndrome attend school and work. They make friends, socialize, date, form on-going relationships and marry. They participate in decisions that affect them, and they contribute to society. All people with Down syndrome experience cognitive delays, but the effect is usually mild to moderate and is not indicative of the many strengths and talents that each individual possesses.

 Medical Concerns

Most people with Down syndrome lead healthy lives. Many of the medical conditions for which they are at increased risk – congenital heart defects, respiratory and hearing problems, Alzheimer’s disease, childhood leukemia and thyroid conditions – are now treatable. Life expectancy has increased dramatically in recent decades – from ony 25 years in 1983 to 60 years or more today. Researchers are making great strides in identifying the genes on Chromosome 21 that cause the characteristics of Down syndrome. Many feel strongly that it will be possible to improve, correct or prevent many of the problems associated with Down syndrome in the future.

Speaking about Down syndrome

People with Down syndrome should always be referred to as people first. Instead of “a Down syndrome child,” one should say, “a child with Down syndrome.” Also avoid “Down’s child” and describing the condition as “Down’s,” as in, “He has Down’s.” Down syndrome is a condition or a syndrome, not a disease. People “have” Down syndrome, they do not “suffer from” it and are not “afflicted by” it. While it is clinically acceptable to say “mental retardation,” you should use the more socially acceptable term “intellectual disability.” The Connecticut Down Syndrome Congress and The National Down Syndrome Society and many others strongly condemn the use of the word “retarded” in any derogatory context. Using this word is hurtful and suggests that people with disabilities are not competent.

The preferred spelling is Down syndrome, rather than Down’s syndrome. Many dictionaries contain both spellings (with or without an apostrophe s), but the preferred usage in the United States is Down syndrome. This is because an “apostrophe s” connotes ownership or possession. Down syndrome is named for the English physician, John Langdon Down, who characterized the condition, but did not have it. The AP Stylebook recommends using “Down syndrome,” as well.