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Down Syndrome

By on May 1, 2012 in Diseases, Health, Prevention with 0 Comments

What is Down syndrome?

Down syndrome is a genetic disorder that causes mental retardation and physical defects. It is caused by the presence of an extra copy of chromosome 21. This condition is called trisomy 21.

What are the physical signs and birth defects of Down syndrome?

Some of the most common physical signs of Down syndrome are upward slanting eyes, flattened facial features, small ears or with an unusual shape, broad hands with short fingers and curvature of the little fingers, and small head. None of these differences causes physical health problems.

Some birth defects associated with Down syndrome cause more serious health problems. Often, babies with Down syndrome have poor muscle tone or heart problems, stomach or eyes. Intelligence ranges from low normal to a marked delay (slow to learn), which can hinder further learning and development.

How do you diagnose Down syndrome?

To find out if a baby has Down syndrome before birth, there is evidence that can examine the tissue and fluid in the womb, in order to detect the extra chromosome. However, there is a slight risk that these tests may cause spontaneous abortion. Therefore, these tests are used only when there is a high probability of a genetic problem in the baby (as a mother of 35 years or more). After birth, if the baby has any physical signs or birth defects of Down syndrome, your doctor may examine the baby’s blood to detect the extra chromosome.

Should I get tested?

This decision depends on you. Some women feel better if they know their risk so they can prepare for the possibility of having a baby with Down syndrome. Your doctor can help you understand your risks and to consider the advantages and disadvantages of being tested.

Will my child need special medical attention?

You may need to administer medication to your baby. Chances are, your doctor may want to check your baby often to make sure it is growing well and is not developing problems from birth defects.

Your baby has to do physiotherapy every week, to help develop muscle tone and coordination. Later, speech therapy and occupational therapy (to help deal with issues such as language skills, hand-eye coordination and social skills) may be helpful for your child.

As with any child, children with Down syndrome need to receive regular medical care. Because children with Down syndrome often have problems with hearing and vision, it is possible that each visit your doctor may want to evaluate your child for these problems. If there is a problem, your doctor may refer your child to a specialist who can help.

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