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Down Syndrome: Finding Out Your Child Has Down Syndrome

What is Down syndrome?

Down syndrome is a genetic disorder that causes mental retardation and physical defects. It is caused by the presence of an extra copy of chromosome number 21. This condition is called trisomy 21.

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How is Down syndrome diagnosed?

Tests (such as amniocentesis and chorionic villus sampling) can be done before birth to find out if a baby has Down syndrome. Tissue and fluid in the womb around the baby can be checked for the extra chromosome. After birth, if the baby has any of the physical signs or birth defects of Down syndrome, the baby's blood can be tested to check for the extra chromosome.

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What are the physical signs and birth defects of Down syndrome?

Some of the most common physical signs of Down syndrome are upward slanting eyes, flattened facial features, ears that are small or unusually shaped, broad hands with short fingers and curved "pinky" fingers and a small head. None of these physical differences will cause health problems.

Some birth defects associated with Down syndrome cause more serious health problems. Babies who have Down syndrome often have poor muscle tone or problems with their heart, stomach or eyes. Intelligence ranges from low normal to very retarded (slow to learn), which can make learning and development more difficult.

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Since I learned my baby has Down syndrome, I've been confused and upset. What can I do?

You may feel disappointment, grief, anger, frustration, fear and anxiety about the future. These feelings are all normal. Talking to other parents of children who have Down syndrome can be helpful, because they know how you are feeling. You can also talk to your family doctor or visit a support group where you can share your feelings and get additional information.

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Will my child be able to do the same things that other children do?

In many important ways, children who have Down syndrome are very much the same as other children. They have the same moods and emotions, and they like to learn new things, to play and enjoy life. You can help your child by providing as many chances as possible for him or her to do these things. Read to your child and play with him or her, just as you would any other child. Help your child to have positive experiences with new people and places.

Early intervention programs can help children who have Down syndrome develop motor, language and social skills that will give them the best chance of success.

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Will my child need special medical care?

As with any child, children who have Down syndrome need regular medical care. Because children with Down syndrome often have problems hearing and seeing, your doctor may want to test your child for these problems at each visit. If there's a problem, your doctor may refer your child to a specialist who can help him or her with it.

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If I've had one baby with Down syndrome, am I at greater risk of having another?

In most cases, for every 100 couples who have another baby, 1 will have another baby with Down syndrome. If you're planning on having more children, talk with your doctor. He or she can help you decide whether to seek genetic counseling.

Several support groups, organizations and community resources exist to help children who have Down syndrome and their parents, siblings and other family members.

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Source

Written by familydoctor.org editorial staff.

Primary Care of Infants and Young Children with Down Syndrome by RB Saenz (American Family Physician January 15, 1999, http://www.aafp.org/afp/990115ap/381.html)

Reviewed/Updated: 03/08
Created: 01/99