One in almost 700 U.S. babies is born with an extra copy of chromosome 21, the condition known as Down syndrome. This additional genetic material causes the physical traits characteristic of Down syndrome (DS), including low muscle tone, small stature and an upward slant to the eyes. Down Syndrome Awareness month reminds the world that people with Down syndrome are valued and cherished members of our communities, contributing to society in a variety of ways.
Truths about Down syndrome
- Down syndrome is the most frequently occurring chromosomal disorder.
- Average life expectancy for people with Down syndrome is approaching that of peers without the condition.
- In 99% of cases, Down syndrome is completely random, rather than hereditary, and the only known factor that increases risk is maternal age. Even so, 80% of babies with Down syndrome are born to women under the age of 35, since they have more babies than women over this age.
- Most people with Down syndrome have only mild to moderate cognitive delays. Many participate in mainstream academic programs and earn regular high school diplomas and college degrees.
Down Syndrome Etiquette
- Down syndrome is a syndrome or condition, not a disease.
- People “have” Down syndrome. They do not “suffer” from it.
- Always refer to people with Down syndrome as people first, as in, “a child with Down syndrome.” Avoid saying things like, “Down syndrome child” or “he has Down’s.”
Types of Down Syndrome:
1. In Trisomy 21, the 21st chromosome of either the egg or sperm fails to separate before or during conception. The extra replication occurs in every cell of the body as the embryo develops. This type accounts for 95% of cases.
2. In Translocation, part of chromosome 21 splits off and attaches to another chromosome. This type accounts for 4% of cases.
3. In Mosiacism, the extra chromosome is replicated in only one cell division, resulting in fewer physical traits characteristic to Down syndrome. This type is responsible for 1% of cases.
Common Characteristics:
People with Down Syndrome tend to share common physical characteristics, such as:
- Slightly flattened face with an upward slant to the eye
- Short neck with excess skin at the nape
- Flattened nose
- Deep, single crease in the palm of the hand
- White spots on the iris of the eye
- Decreased muscle tone and loose ligaments
- Small ears, hands and feet
- Separated joints between the bones of the skull (sutures)
In addition to the physical similarities, people with DS may also have varying degrees of intellectual and developmental disabilities which affect language and motor skills. For many people, the level of impairment is mild to moderate.
While individuals with Down syndrome experience developmental delays and are at higher risk for some medical complications, their contributions to society are valued and cherished. Like those without the disorder, they have many unique talents and gifts that enrich our communities.
Parents or loved ones of people with Down Syndrome can tap into an abundance of treatment programs and support systems, as well as education services and other assistance resources available. For support groups and services in your area, see this National Down Syndrome Society Affiliate Map.
Source information for this article was provided by MayoClinic.com, KidsHealth.org, PubMed Health, the National Association for Down Syndrome, and Shield HealthCare’s Corporate Registered Dietitian.
