Down Syndrome Facts and Misconceptions

There are many misconceptions when it comes to Down Syndrome, and the way that it is often portrayed on television is incorrect. Down Syndrome is caused by an extra chromosome 21, which leads to certain mental and physical defects in a child. It is the most common cause of birth defects and occurs in approximately one out of every 660 births.

People with Down Syndrome are most easily recognized by singularly unique physical characteristics. A patient with Down Syndrome will have an unusually small skull that might be abnormally shaped. The nose will be slightly flattened, the tongue will have a tendency to protrude and the eyes will slant upward slightly. The inner corner of one or both eyes might have a small fold of skin - called an epicanthal fold - rather than ending in a point. The hands will be short and broad with slightly smaller fingers and a single crease in the palm, called a simian crease. Most children born with Down Syndrome will never reach full adult height.

Although many children born with Down Syndrome will live to see adulthood, some are born with fatal heart and lung defects, which are common in people with Down Syndrome. Congeniatal heart defects will result in cardiac abnormalities, and certain gastrointestinal abnormalities are also quite common. If there is any type of obstruction in the gastrointestinal tract, surgery will be performed shortly after birth, and the odds of survival are slim.

Children with Down Syndrome might also be afflicted with acute lymphocytic leukemia, which is usually fatal.

Most children born with Down Syndrome are immediately recognizable at birth, though other tests will be performed to confirm the disease. Chromosome studies will show three copies of the 21st chromosome in almost 95% of Down Syndrome cases, and chest x-rays and echocardiograms will be performed to search for cardiac abnormalities. In the case of a gastrointestinal obstruction, an x-ray will be performed and physicians will attempt to send a tube into the child's tomach to see if it is met with an obstruction.

Even if there are no heart problems detected at birth, there is a higher risk that they will be developed later in life for Down Syndrome patients. They will have to be monitored closely throughout their life to catch disease early so that it is treatable. The normal life span is decreased dramatically for children with Down Syndrome because of the risk of congenital heart disease. Although mental retardation is seen in varying degrees, it is usually moderate. Many adults with Down Syndrome live independently and work in normal jobs like the rest of society.

For this reason, it is important that the parents of a child with Down Syndrome consult a geneticist and undergo counseling to better understand the disorder. If a parent is uneducated, he or she might assume that the child is more mentally handicapped than he or she really is, which can result in the child's inability to achieve his or her potential.

For patients born with Down Syndrome, the following are potential health risks that may accompany this disorder:

- vision and hearing problems
- cardiac disease or abnormalities
- acute leukemia
- frequent ear infections
- increased susceptibility to infections
- sleep apnea (blocked airways)
- dementia
- fragility of the back bones at the top of the neck and compression of the spinal cord

Patients with Down Syndrome are often able to overcome their shortcomings in life and become happy, healthy individuals. It is important not to underestimate the ability of someone with this disorder to learn, communicate, socialize and perform.

Special classes, courses and support groups are available for both parents and children in Down Syndrome families. Visit www.ndscenter.org for more information.