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Down Syndrome


Topic Overview

What is Down syndrome?

Down syndrome is a set of physical and mental traits caused by a gene problem that happens before birth. Children who have Down syndrome tend to have certain features, such as a flat face and a short neck. They also have some degree of intellectual disability. This varies from person to person. But in most cases it is mild to moderate.

Down syndrome is a lifelong condition. But with care and support, most children who have Down syndrome can grow up to have healthy, happy, productive lives.

What causes Down syndrome?

Down syndrome is caused by a problem with a baby's chromosomes. Normally, a person has 46 chromosomes. But most people with Down syndrome have 47 chromosomes. In rare cases, other chromosome problems cause Down syndrome. Having extra or abnormal chromosomes changes the way the brain and body develop.

Experts don't know the exact cause, but some things increase the chance that you'll have a baby with Down syndrome. These things are called risk factors.

Your risk of having a baby with Down syndrome is higher if:

  • You are older when you get pregnant. Many doctors believe that the risk increases for women age 35 and older.
  • You have a brother or sister who has Down syndrome.
  • You had another baby with Down syndrome.

If you've had a baby with Down syndrome and are planning another pregnancy, you may want to talk to your doctor about genetic counseling.

What are the symptoms?

Most children with Down syndrome have:

  • Distinctive facial features, such as a flat face, small ears, slanting eyes, and a small mouth.
  • A short neck and short arms and legs.
  • Weak muscles and loose joints. Muscle tone usually improves by late childhood.
  • Below-average intelligence.

Many children with Down syndrome are also born with heart, intestine, ear, or breathing problems. These health conditions often lead to other problems, such as airway (respiratory) infections or hearing loss. But most of these problems can be treated.

How is Down syndrome diagnosed?

Your doctor may suggest that you have tests during pregnancy to find out if your baby has Down syndrome. You may decide to have:

  • Screening tests, such as an ultrasound or a blood test during your first or second trimester. These can help show if the developing baby (fetus) is at risk for Down syndrome. But these tests sometimes give false-positive or false-negative results.
  • Diagnostic tests, such as chorionic villus sampling or amniocentesis. These can show if a baby has Down syndrome. You may want to have these tests if you have abnormal results from a screening test or if you are worried about Down syndrome.

Sometimes a baby is diagnosed after birth. A doctor may have a good idea that a baby has Down syndrome based on the way the baby looks and the results of a physical exam. To make sure, the baby's blood will be tested. It may take 2 to 3 weeks to get the test results.

What kind of care will your child need?

Starting soon after birth, a baby with Down syndrome will be tested for health problems, such as eye, ear, or thyroid problems. The sooner these problems are found, the better they can be managed. Regular doctor visits can help your child stay in good health.

Your doctor will make a treatment plan that meets your growing child's needs. For example, most children with Down syndrome need speech therapy and physical therapy. Teens and adults with Down syndrome may need occupational therapy to learn job skills and learn how to live on their own. Counseling may help with social skills and emotional issues.

Many professionals will help you and your child through life. But you are vital to your child's success. To help your child:

  • Learn all you can about Down syndrome. This can help you know what to expect and how you can help your child.
  • Find out what type of financial help you can get by contacting your state's Department of Developmental Disabilities.
  • Check into resources in your area. For example, many states provide free early-intervention programs for children with Down syndrome up to age 3 to help them get off to a good start.
  • Look into school options for your child. Federal law requires public schools to provide services to all children with disabilities who are ages 3 to 21.

Raising a child with Down syndrome has both challenges and rewards. Remember to take time for yourself. And ask for help when you need it. Talking to other parents who are raising children with Down syndrome can be a big help. Ask your doctor or hospital about parent support groups, or contact a group like the National Down Syndrome Congress.

Learning about Down syndrome:

  • What is Down syndrome?
  • What causes it?
  • What are the symptoms of Down syndrome?
  • What happens in Down syndrome?
  • What increases my risk for having a baby with Down syndrome?
  • Are there different types of Down syndrome?
  • How common is it?

Being diagnosed:

  • How is it diagnosed?
  • Which tests during pregnancy check for Down syndrome?

Ongoing care:

  • How is Down syndrome treated?
  • What kinds of therapies might be recommended?

Living with Down syndrome:

  • What can I do at home to help my child learn to be independent?
  • When should I call a doctor?
  • What health problems are related to Down syndrome?
  • What social problems should I be aware of?
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