Pediatrics Common Questions, Quick Answers

Down Syndrome

Donna D'Alessandro, M.D.
Lindsay Huth, B.A.
Peer Review Status: Internally Reviewed
Creation Date: May 2002
Last Revision Date: May 2002

• What is Down syndrome?
• What causes it?
• Who can get it?
• What are the signs?
• What are the symptoms?
• Is it contagious?
• How is it treated?
• How long does it last?
• Can it be prevented?

What is Down syndrome?

• Down syndrome is a genetic disorder.

What causes it?

• It is caused by a birth defect.
• The most common birth defect is when an infant is born with an extra chromosome.
• Chromosomes carry genes. Genes are the body's plan for growth and development.
• The extra gene affects the child's physical and cognitive (thinking) development.

Who can get it?

• It can affect any infant.
• Babies born to mothers who are age 35 or older are at higher risk for Down syndrome than babies born to younger mothers.
• Parents who have had one child with Down syndrome are more likely to have another child with Down syndrome.

What are the signs?
Many signs are noticeable at birth. Children with Down syndrome will have at least some of these signs. They can include:

• Low muscle tone
• Small nose with a flat bridge
• Upward slant to the eyes
• Small ears
• Deep crease along the center of the palm
• Flexible joints
• Small hands, short fingers
• Short fifth finger
• Small skin folds on the inner corners of the eyes
• Extra space between the big toe and the second toe
• Smaller mouth, larger tongue
• Short neck

What are the symptoms?
Symptoms vary between individuals. A child with Down syndrome will have some of the following symptoms. They may be mild, moderate, or severe.

• There is a degree of mental retardation.
• Many children with Down syndrome also have heart defects.
• They are more likely to suffer from infections, respiratory problems, and problems with the digestive system.
• They are usually smaller than other children their age and may gain weight easily.
• Children with Down syndrome learn language skills, social skills, and gross motor skills at a slower pace and later age than other children their age.
• For example, while typically children learn to sit up by themselves between 5 to 9 months old, children with Down syndrome may not sit up alone until 6 to 30 months old.
• They may have problems with hearing or vision, which can lead to speech problems.
• Most men with Down syndrome cannot father a child.
• Some women can have a baby, although there is a 50% chance the baby will have Down syndrome.

Is it contagious?

• No. It is not contagious.

How is it treated?
There is no cure, but symptoms can be treated.

Education

• Children with Down syndrome can go to school.
• By law, your child is guaranteed a public education that meets his special needs.
• Doctors, teachers, and other specialists and professionals will work as a team to create an education plan for the child. Parents are also an important part of the team.
• The plan will help your child develop his skills and reach his highest potential.
• Your child may do well in a "regular" classroom. Or, his needs may be better met in a classroom with specially trained teachers and fewer students.
• Your child can begin his education program in preschool, beginning at age 3 or even younger.
• Working with a special speech doctor may help your child with language skills.

Heart Defects

• All infants born with Down syndrome should be tested for heart defects.
• Take your child to a pediatric cardiologist, a doctor with special training in treating children with heart defects.
• Some defects can be treated with medication.
• Others may require surgery.
• Read about birth defects and congenital heart disease to learn more.

Vision and Hearing

• Children with Down syndrome should see an eye doctor and a hearing doctor within the first year of life.
• Read about vision problems for more information.
• Hearing problems should be treated right away so they do not affect language skills.

Other problems

• People with Down syndrome have a higher risk for other problems, such as hypothyroidism, cancers, and bone problems.
• Your doctor may do special tests to see if your child has any of these problems.

How long does it last?

• A person with Down syndrome will be affected by it his whole life.
• He is typically expected to live until around age 55.

Can it be prevented?

• There is no known way to prevent it.
• Folic acid might help reduce the chances of having a baby with Down syndrome, although this has not been proven. Women who might get pregnant may benefit from taking a multivitamin with 400 micrograms of folic acid.
• Doctors can sometimes test pregnant mothers to see if the baby will be born with Down syndrome. The tests are not 100% accurate.

Quick Answers

• Down syndrome is a genetic disorder.
• It is caused by a birth defect.
• It is more likely to affect babies born to mothers age 35 or older.
• Many signs are noticeable at birth, such as low muscle tone, small nose, short fingers, and flexible joints.
• Children with Down syndrome have different degrees of mental retardation. They reach growth and development milestones at a later age than most children.
• It is not contagious.
• To treat symptoms, your child should work with a team of professionals. Doctors, parents, specialists, and education professionals should all be part of the team.
• A person with Down syndrome will be affected by it his whole life.
• There is no known way to prevent it.

References

• Center for Disabilities and Development. Children with Down Syndrome. University of Iowa. 2002 (cited 2002 April 9). URL: http://www.medicine.uiowa.edu/uhs/acds.cfm
• March of Dimes. Down Syndrome. 2000 (cited 2002 April 9). URL: http://www.modimes.org/HealthLibrary/334_602.htm
• Rutherford K. Down Syndrome. KidsHealth. 2001 August (cited 2002 April 9). URL: http://kidshealth.org/parent/medical/genetic/down_syndrome.html

See related Patient Topics Birth Defects, Child and Teen Health, Developmental Disabilities, Down Syndrome, Food, Nutrition and Metabolism or Genetics/Birth Defects.

See related Provider Topics Birth Defects, Child and Teen Health, Developmental Disabilities, Food, Nutrition and Metabolism or Genetics/Birth Defects.

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