Definitions & Myths : Navigating Down Syndrome : Utah Down Syndrome Foundation

The Basics of Down Syndrome

What Is Down Syndrome?

Down syndrome is a chromosomal condition that occurs when a person is born with three copies of chromosome 21 instead of two. This “extra” full or partial copy of chromosome 21 changes the course of development during pregnancy and can result in a person having a degree of different physical and mental abilities. Low muscle tone, small stature, an upward slant to the eyes, a single deep crease across the center of the palm, a big gap between the big and first toe, heart anomalies, gastrointestinal abnormalities, thyroid disorders, developmental delays, learning difficulties, hearing and/or vision difficulties, are some of the common characteristics of Down syndrome. However, each person with Down syndrome is unique and may have only some of these traits with differing levels of severity.

What Causes Down Syndrome?

Why some babies have this extra chromosome is unknown, but it is not caused by race, nationality, socioeconomic status, or anything the mother or father did before or during pregnancy. Down syndrome is the most common chromosomal condition and is also known as Trisomy 21. In the United States, 1 in every 700 babies is born with Down syndrome, which is about 6,000 babies a year. In Utah, 80 to 100 babies are born each year with Down syndrome. While there are no medicines or therapies that can “cure” Down syndrome, the American Academy of Pediatrics states that, “Medical management, home environment, early intervention, education, and vocational training can significantly affect the level of functioning of children and adolescents with Down syndrome and facilitate their transition to adulthood."

Different Types of Down Syndrome

There are three different types of Down syndrome: (1) Trisomy 21 accounts for 95 percent of those with Down syndrome. This type of Down syndrome occurs when every cell in an individual’s body has an extra chromosome, (2) Translocation accounts for three to four percent of those with Down syndrome. This type of Down syndrome occurs when a person has an additional chromosome attached to another chromosome, and (3) Mosaic accounts for one percent of those with Down syndrome. This type of Down syndrome occurs when a person has an extra chromosome in some cells, but not in others. (National Down Syndrome Congress)

Myths & Truths

MYTH: Down syndrome is a rare genetic disorder.

TRUTH: Down syndrome is the most commonly occurring genetic condition. It is believed that between 250,000-350,000 people are living with Down syndrome in the U.S. There is no known cause. Down syndrome is not a disease or illness. It is the presence of an extra 21st chromosome. Down syndrome is not related to race, nationality, religion or socio-economic status.

MYTH: Having a child with Down syndrome will be a burden on a family.

TRUTH: Children with Down syndrome have a variety of gifts and talents. Each individual has a unique personality all their own. They bring joy to their families and enhance the world around them. Many people seek to adopt children with Down syndrome because they feel that these children will enrich the lives of their families.

MYTH: All individuals with Down syndrome have severe developmental or intellectual delays.

TRUTH: While most people with Down syndrome have some cognitive and physical delays, there is a wide range in their abilities. IQ is not an adequate measure of the functional status of people with Down syndrome. People with Down syndrome have great potential when given the opportunity to succeed. According to the National Down Syndrome Congress, “Up to 50% of babies with Down syndrome are born with a heart defect, and some will require surgery. The vast majority of these heart defects are correctable.” (https://www.ndsccenter.org/wp-content/uploads/DS-Brochure-2016-English.pdf)

MYTH: Individuals born with Down syndrome do not experience full and productive lives.

TRUTH: Individuals with Down syndrome live at home with their families, in group homes, or in homes of their own. They are integrated into the regular education system and are active participants in the vocational, social, religious, and recreational activities of the community. Many individuals will go to college, work, and lead meaningful lives.