Dr. MJ Bazos MD,
Patient Handout
Down
Syndrome
What is Down syndrome?
Down syndrome is a genetic disorder caused by an
extra chromosome number 21. It's named after the doctor who discovered its
cause.
How is Down syndrome diagnosed?
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.
What are the physical signs and
birth defects of Down syndrome?
Some of the most common physical signs of Down
syndrome are folds at the inner corners of the eyes, a flat nose bridge, ears
that are small or look lower than usual, curved "pinky" fingers and a gap
between the big toe and the second toe. None of these signs will cause health
problems.
Some birth defects associated with Down syndrome
cause more serious health problems. Babies with Down syndrome often have poor
muscle tone or problems in their heart, stomach or eyes. Intelligence ranges
from low normal to very retarded (slow to learn).
Since I learned my baby has Down
syndrome, I've been confused and upset. What can I do?
It's usually a surprise and a disappointment to
find out your baby isn't the "perfect" baby you hoped for. You may feel
disappointment, grief, anger, frustration, fear and anxiety about the future.
These feelings are all normal. Talking to other parents of children with Down
syndrome can be helpful, because they know how you are feeling.
Will my child be able to do the same
things that other children do?
In many important ways, children with Down
syndrome are very much the same as other children. They have the same moods and
emotions, and they like to learn new things, to play and enjoy life. You can
help your child by providing as many chances as possible for him or her to do
these things. Read to your child and play with him or her, just as you would
another child. Help your child to have positive experiences with new people and
places.
Will my child need special medical
care?
As with any child, children who have Down
syndrome need regular medical care. Because children with Down syndrome often
have problems hearing and seeing, your doctor may want to test your child for
these problems at each visit. If there's a problem, your doctor may refer your
child to a specialist who can help him or her with it.
If I've had one baby with Down
syndrome, am I at greater risk of having another?
In most cases, for every 100 couples who have
another baby, 1 will have another baby with Down syndrome. If you're planning on
having more children, talk with your doctor. He or she can help you decide
whether to seek genetic counseling.
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