Down Syndrome - Topic Overview

SYMPTOMS & TREATMENTS

What is Down syndrome?

Down syndrome is a set of physical and mental traits caused by a gene problem that happens before birth. Children with 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 with 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 that happens long before the baby is born. Chromosomes are the part of your cells that contain your genetic material, or DNA. Normally, a baby 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 of the chromosome problem. But some things are known to increase the chance that a baby will have Down syndrome. These things are called risk factors. They include:

Age of the mother. The risk of having a baby with a genetic problem increases as a woman gets older. Many doctors use 35 and older as the age when risk increases. (Most babies with Down syndrome are born to mothers in their 20s or early 30s, because younger women as a group have more babies than olderwomen do.)
Having a brother orsister with Down syndrome.
Having a previous pregnancy in which the fetus had Down syndrome.

What are the symptoms?

Most children with Down syndrome have:

Distinct facial features, such as a flatface, small ears, slanting eyes, and a small mouth.
A short neckand short arms and legs.
Weak muscles and loose joints. Muscle toneusually 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. Luckily, 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. A screening test can help show if the baby (fetus) is at risk for Down syndrome. But these tests sometimes give false-positive or false-negative results.

Screening tests include:

A blood test and afetal ultrasound late in thefirst trimester. The ultrasound looks for thickness inthe back of the baby's neck (nuchal fold), which can be a sign of Downsyndrome. This kind of ultrasound is not available in many areas.
A blood test called a maternal serum triple screen or quadruplescreen in the second trimester. By measuring substances in your blood, thesetests can estimate the chance that your baby has Down syndrome or other healthproblems.

Your doctor may suggest a chromosome (karyotype) test if you have an abnormal screening test result or if you are worried about Down syndrome. A karyotype test has more risks than a screening test. But it can say for sure if your baby has Down syndrome.

Karyotype tests include:

Chorionic villus sampling in the first trimester. For this test, the doctor takes asample of cells from theplacenta, either by putting a thin tube through yourvagina or by putting a thin needle into your belly.
Amniocentesis in the second trimester. For this test,the doctor puts a thin needle into your belly and takes a sample of the liquid(amniotic fluid) that surrounds the baby.

Sometimes a baby is only 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 complete test results.

How is it treated?

Starting soon after birth, a baby with Down syndrome will be tested for common health problems. For example, many babies with Down syndrome have 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 benefit from speech therapy and physical therapy. As your child matures, occupational therapy can help your child learn the skills needed to hold a job and live independently. Counseling may help with social skills and emotional issues.

As you can see, many professionals may have a hand in helping your child through life. But from birth on, parents play a vital role in their child's success. To do your best for your child:

Learn all you can about Down syndrome. Thiscan help you know what to expect and how you can help your child.
Find out what type of financial help you can get by contactingyour state's Department of Developmental Disabilities.
Check intoresources in your area. For example, many states provide freeearly-intervention programs for children with Down syndrome up to age 3 to helpthem get off to a good start.
Look into school options for yourchild. Federal law requires public schools to provide services to all childrenwith disabilities between the ages of 3 and 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? Can it be prevented? 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:	Who can diagnose Down syndrome? How is it diagnosed? Should I have the maternal serum triple or quadruple test? What is a karyotype test? Should I have chorionic villus sampling? Should I have an amniocentesis?
Getting treatment:	How is Down syndrome treated? What kinds of therapies might be recommended? Are medicines used?
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? Can behavior problems develop? What social problems should I be aware of?

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By:	Healthwise Staff	Last Revised: February 10, 2010
Medical Review:	Michael J. Sexton, MD - Pediatrics Siobhan M. Dolan, MD, MPH - Reproductive Genetics David Smith, MD - Family Medicine

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