DOWN SYNDROME (Trisomy 21) |
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DOWN SYNDROME (Mongolism; Trisomy 21)
DESCRIPTIONDown syndrome is retardation and abnormalities in many organs caused by a major chromosome abnormality that is congenital. The central nervous system, heart, and skeletal system are involved. Down syndrome affects newborns.
Appropriate health care includes:
Physician's monitoring of general condition and medications.
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.
Nursing-home or group-home care, if parental-home care is not feasible.
SIGNS & SYMPTOMS
Shortly after birth:
Lack of normal muscle tone. The baby seems "floppy."
Head and face abnormalities, including a small or odd-shaped skull, slanting almond-shaped eyes, a small mouth, and a protruding tongue.
Broad hands with large, unusual palm creases. The little finger curves inward (sometimes).
Heart murmur.
Later:
Retarded growth and development. The child never reaches full stature.
Mental retardation. (Mild to moderate).
CAUSES
An extra chromosome in the fertilized egg creates abnormalities as the fetus develops. In a third of cases, the extra chromosome comes from the father.
RISK FACTORS
Pregnancy in females under age 16 or over 35.
Family history of Down syndrome.
Mother's exposure to drugs, radiation, chemicals, or infections before pregnancy.
PREVENTING COMPLICATIONS OR RECURRENCE
If you are pregnant and over age 35, or you or your partner have a family history of Down syndrome, request amniocentesis. This procedure 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.
BASIC INFORMATION
MEDICAL TESTS
Your own observation of symptoms.
Medical history and physical exam by a doctor.
Laboratory studies of your child's chromosomes.
POSSIBLE COMPLICATIONS
Increased susceptibility to leukemia.
Increased susceptibility to infections.
Chronic ear infections.
Hearing loss.
Visual problems.
Skin disorders.
Congestive heart failure caused by congenital heart abnormalities.
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.
TREATMENT
HOME CARELearn all you can about programs and resources in your community to help children with Down syndrome.
MEDICATION
Your doctor may prescribe antibiotics for frequent, complicating infections. There is no medication to cure Down syndrome.
See Medications section for information regarding medicines your doctor may prescribe.
ACTIVITY
Encourage your child to be as active as possible.
DIET & FLUIDS
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).
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