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Down Syndrome:
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Down syndrome is a genetic disorder.
Down syndrome is the most frequent genetic cause of mild to moderate mental
retardation and associated medical problems and occurs in one out of 800 live
births, in all races and economic groups. Down syndrome is a chromosomal
disorder caused by an error in cell division that results in the presence of an
additional third chromosome 21 or "trisomy 21."
The Causes of Down Syndrome:
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It is caused by a birth defect.
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The most common birth defect is when an infant is born with an extra
chromosome.
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Chromosomes carry genes. Genes are the body's plan for growth and development.
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The extra gene affects the child's physical and cognitive (thinking)
development.
Who can get it?
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It can affect any infant.
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Babies born to mothers who are age 35 or older are at higher risk for Down
syndrome than babies born to younger mothers.
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Parents who have had one child with Down syndrome are more likely to have
another child with Down syndrome.
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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:
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Low muscle tone
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Small nose with a flat bridge
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Upward slant to the eyes
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Small ears
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Deep crease along the center of the palm
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Flexible joints
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Small hands, short fingers
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Short fifth finger
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Small skin folds on the inner corners of the eyes
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Extra space between the big toe and the second toe
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Smaller mouth, larger tongue
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Short neck
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The Symptoms of Down Syndrome:
Symptoms vary between individuals. A child with Down syndrome will have
some of the following symptoms. They may be mild, moderate, or severe.
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There is a degree of mental retardation.
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Many children with Down syndrome also have heart defects.
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They are more likely to suffer from infections, respiratory problems, and
problems with the digestive system.
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They are usually smaller than other children their age and may gain weight
easily.
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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.
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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.
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They may have problems with hearing or vision, which can lead to speech
problems.
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Most men with Down syndrome cannot father a child.
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Some women can have a baby, although there is a 50% chance the baby will have
Down syndrome.
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Diagnoses of Down Syndrome:
The doctor making the initial diagnosis of Down syndrome has no way of knowing
the intellectual or physical capabilities this child, or any other child, may
have. Children and adults with Down syndrome have a wide range of abilities. A
person with Down syndrome may be very healthy or they may present unusual and
demanding medical and social problems at virtually every stage of life.
However, every person with Down syndrome is a unique individual, and not all
people with Down syndrome will develop all the medical disorders discussed
below.
Tests 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.
Is it contagious?
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No. It is not contagious.
How is it treated?
There is no cure, but symptoms can be treated.
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Education
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Children with Down syndrome can go to school.
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By law, your child is guaranteed a public education that meets his special
needs.
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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.
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The plan will help your child develop his skills and reach his highest
potential.
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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.
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Your child can begin his education program in preschool, beginning at age 3 or
even younger.
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Working with a special speech doctor may help your child with language skills.
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Heart Defects
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All infants born with Down syndrome should be tested for heart defects.
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Take your child to a pediatric cardiologist, a doctor with special training in
treating children with heart defects.
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Some defects can be treated with medication.
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Others may require surgery.
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Vision and Hearing
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Children with Down syndrome should see an eye doctor and a hearing doctor
within the first year of life.
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Hearing problems should be treated right away so they do not affect language
skills.
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Other problems
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People with Down syndrome have a higher risk for other problems, such as
hypothyroidism, cancers, and bone problems.
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Your doctor may do special tests to see if your child has any of these
problems.
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How long does it last?
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A person with Down syndrome will be affected by it his whole life.
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He is typically expected to live until around age 55.
Can it be prevented?
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There is no known way to prevent it.
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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.
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Doctors can sometimes test pregnant mothers to see if the baby will be born
with Down syndrome. The tests are not 100% accurate.
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Quick Answers
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Down syndrome is a genetic disorder.
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It is caused by a birth defect.
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It is more likely to affect babies born to mothers age 35 or older.
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Many signs are noticeable at birth, such as low muscle tone, small nose, short
fingers, and flexible joints.
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Children with Down syndrome have different degrees of mental retardation. They
reach growth and development milestones at a later age than most children.
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It is not contagious.
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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.
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A person with Down syndrome will be affected by it his whole life.
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There is no known way to prevent it.
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