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By Laurie Sammeth, HealthAtoZ Writer
Down syndrome is a genetic disorder. A person born with it has an extra chromosome. Chromosomes are found in each cell in the body and contain the genes. Down syndrome is also called trisomy 21, because a person with it has three copies of chromosome number 21 instead of the usual two.
Down syndrome can cause an array of symptoms. There are distinct facial features and often delays in physical and mental development. There can also be problems with vision and hearing, as well as heart defects. But the severity of symptoms varies greatly among people with Down syndrome. While some have more severe problems, others have only mild symptoms.
Down syndrome affects about one in every 800 babies. That makes it one of the most common birth defects.
What causes Down syndrome?
The problem causing Down syndrome occurs at conception during cell division. It is not known why this happens. It doesn't appear to be the result of anything the mother did during the pregnancy. Women over the age of 35 have a greater chance of having a baby with Down syndrome than younger women. But most babies (80 percent) with the disorder are born to mothers under age 35.
There is currently no way to prevent the syndrome. However, tests done before birth can find out if a fetus is at risk for or has Down syndrome.
What are the symptoms?
Symptoms of Down syndrome vary greatly among people with the condition. However, distinct physical features are common to many of those affected. These include:
- A flat face
- Upwardly slanted eyes
- A short neck
- Misshapen ears
- One deep crease in the center of the palm
- A thick tongue
- Poor muscle tone and loose joints
- A white spot in the eyes
- Small hands and feet
People with Down syndrome typically have some mental retardation. It can range from mild to moderate.
After a child is born with Down syndrome, a doctor can often diagnose the condition based on these physical traits. Down syndrome can be confirmed with a genetic test.
What can you expect with Down syndrome?
Children with Down syndrome usually have delayed development in speech and movement. They may have a slower rate of growth and may be shorter than their peers. They may also have certain physical problems. Many of these conditions can be treated and controlled, though. They include:
- Heart defects
- Hearing and vision problems
- Tendency to get infections more easily
- Intestinal problems
- Thyroid problems
- Obesity
- Leukemia
- Early-onset dementia
What can you do to help your child with Down syndrome?
There is much you can do to help a child with Down syndrome develop his or her abilities and live a long, productive life. First and foremost is to start early. Physical, speech and occupational therapies are important parts of treatment. Talk to your doctor or social worker. Many states offer these services for free to children under age three. After that, your child will be able to get some of the needed services free from your school district under the Individuals with Disabilities Education Act (IDEA).
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External Sources
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National Association for Down Syndrome. Down syndrome facts. Accessed October 2, 2007.
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National Institutes of Health. National Institute of Child Health & Human Development. Down syndrome. Accessed October 2, 2007.
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Behrman RE, Kliegman RM, Jenson, HB. Developmental disabilities and chronic illnesses. In: Nelson Textbook of Pediatrics, 17th ed. Saunders;2004.
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Tyler C, Edman JC. Down syndrome, Turner syndrome, and Klinefelter syndrome : primary care throughout the life span. Primary Care. 2004;31:627-648.
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Centers for Disease Control and Prevention. Birth defects: frequently asked questions (FAQs). Dated July 18, 2007. Accessed October 4, 2007.
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March of Dimes. Quick Reference and Fact Sheets. Down syndrome. Accessed October 4, 2007.
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