DOWN SYNDROME

(Trisomy 21)

 Basic information

description

Down syndrome is a genetic disorder that usually results in abnormal physical appearance, mental retardation, and other health problems. One in every 800 babies is born with Down syndrome. It can occur in people of all races and economic levels.

FREQUENT SIGNS & SYMPTOMS

• Appearance (some may have only a few of the recognizable traits, while others may have many):
  • Lack of normal muscle tone. Child seems "floppy.".
  • Head that is not shaped normally, including a small or odd-shaped skull.
  • Facial features may include small, flattened nose, small mouth, small chin, and large tongue.
  • Slanting, almond-shaped eyes. The inner corner of the eyes may have a rounded fold of skin (epicanthal fold). Iris may be abnormal.
  • Ears that are not of normal shape.
  • Broad hands with a large, single palm crease. The little finger curves inward (sometimes).
  • Slow growth and development. The child typically never reaches full height.
• Other conditions:
  • Heart and gastrointestinal defects may be diagnosed.
  • Mild to moderate mental retardation.

causes

Genetic. An extra chromosome creates abnormalities. It is not yet known why this occurs. Research is ongoing.

risk increases with

• Many risk factors have been studied. The only proven one is the increasing age of the woman.
• If a woman has one Down syndrome baby, there is a 1% increased risk for a second Down syndrome baby.

PREVENTIVE MEASURES

• It cannot be prevented. If you or your partner has a family history of Down syndrome, get genetic counseling before a pregnancy.
• If you are pregnant and over age 40, or you or your partner have a family history of Down syndrome, talk to your doctor about any recommended medical tests.

expected outcomes

There is no cure. With help, people with Down syndrome can reach their full potential and lead happy, loving, and useful lives. Life expectancy is about 50 to 60 years and continues to improve.

possible complications

• Risk of infections, leukemia, thyroid disease, heart defects, hearing and vision problems, obesity, or apnea.
• Dementia later in life.
• Early death due to health complications.

 diagnosis & treatment

general measures

• A Down syndrome baby may be diagnosed during pregnancy by medical testing or at birth by the baby’s appearance. A chromosome test may be done on the newborn. It is an extremely difficult time for new parents. Counseling may be helpful. Some parents blame themselves and need help to cope with feelings of guilt.
• Raising the child to his or her full potential should be the goal for parents of a child with Down syndrome.
• Learn all you can about programs in your city to help children with Down syndrome. Join a support group.
• Learning programs for these children begin in infancy and continue all through their lives. Some children can be taught in regular classrooms (with extra help), while others may need special education. They can take part in, and enjoy, sports, music, art, and other activities.
• Health care is important. Children with Down syndrome are more likely to get infections and other illnesses. Surgery may be needed to correct heart or intestinal disorders.
• As adults, they can hold jobs, live in group-homes, have social lives, and some may even marry.
• To learn more: National Down Syndrome Society, 666 Broadway, New York, NY 10012; (800) 221-4602; web-site: www.ndss.org.

medications

Drugs are usually not needed unless an illness occurs.

activity

Encourage the child to be as active as possible (unless heart disease is present) in a protected environment.

diet

No special diet. Extra patience may be needed in feeding an infant with Down syndrome. Some have difficulty sucking or are not eager to eat.

 notify our office if

• You have a child with Down syndrome and have any questions or concerns.
• A child with Down syndrome develops signs of infection (fever, chills, pain, headache, tiredness, nausea).

Special Notes: