DOWN SYNDROME

General Information

DEFINITION--Mental retardation and abnormalities in many organs caused by a major chromosome abnormality that is congenital.

BODY PARTS INVOLVED--Central nervous system; heart; skeletal system.

SEX OR AGE MOST AFFECTED--Newborns.

SIGNS & SYMPTOMS

Shortly after birth:

• Lack of normal muscle tone. The child seems "floppy."

Head and face abnormalities, including: a small or odd-shaped skull; slanting, almond-shaped eyes; small mouth and protruding tongue.

• Broad hands with large, unusual palm creases. The little finger curves inward (sometimes).
• Heart murmur.

Later:

• Retarded growth and development (slower than other children to walk, talk and learn).
• Mental retardation (mild to moderate).

CAUSES--An extra chromosome in the fertilized egg creates abnormalities as the fetus develops. In five percent of cases, the extra chromosome comes from the father.

RISK INCREASES WITH

• Pregnancy in females under age 16 or over 35. At age 45, incidence is 1 in 35 births.
• Family history of Down syndrome.
• Mother's exposure to drugs, radiation, chemicals or infections before pregnancy.

HOW TO PREVENT

• If you are pregnant and over age 35, or you or your partner have a family history of Down syndrome, request amniocentesis. This can detect whether the fetus has Down syndrome.
• If you or your partner have a family history of Down syndrome, obtain genetic counseling before starting a family.

What To Expect

DIAGNOSTIC MEASURES--

• Parent's observation of symptoms.
• Medical history and physical exam by a doctor.
• Laboratory studies of chromosomes.

APPROPRIATE HEALTH CARE

• Doctor's treatment.
• Psychotherapy or counseling for the parents. Many parents blame themselves and need help to cope with unnecessary, harmful guilt.
• Surgery to correct congenital heart or intestinal disorders.
• Group-home care, if home care is not feasible.

POSSIBLE COMPLICATIONS

• Increased susceptibility to leukemia and thyroid disease.
• Increased susceptibility to infections.
• Congestive heart failure caused by congenital heart abnormalities.
• Alzheimer's disease in 1/4 or more of patients over age 35.

PROBABLE OUTCOME--People with Down syndrome have been included in regular schools. Depending on the individual's ability, he or she may be taking specific courses or be fully included in the regular classroom. As adults they can obtain employment and live in group homes and other independent housing arrangements. Some may choose to marry.

How To Treat

GENERAL MEASURES--

• Learn all you can about programs and resources in your community to help children with Down syndrome. Early intervention programs are designed to help these children develop their abilities as much as possible.

MEDICATION--Your doctor may prescribe antibiotics for frequent, complicating infections. There is no medication to specifically treat Down syndrome.

ACTIVITY--Encourage the child to be as active as possible in a protected environment.

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

Call Your Doctor If

• Your infant seems "floppy" or does not seem to be developing normally.
• A child with Down syndrome develops signs of infection (fever, warmth or pain).