Causes of Down Syndrome (Trisomy 21)




Wednesday, April 1, 2009

How to Treat Down Syndrome With Speech Therapy

Step 1:
Start early. Even before a child starts to speak, speech therapy can help her communicate through gestures, physical contact and facial expressions. This is especially important in children who start speaking late, as they will still be able to get their points across.

Step 2:
Concentrate on teaching Down syndrome children how to breathe properly. A big part of the speech problem with Down syndrome children is in the fact that they cannot find a proper way to places pauses in sentences, causing words to come out either too rushed or too slowly.

Step 3:
Talk to a therapist if you notice your child has problems swallowing. This is also directly related to the way he uses his throat and may have an impact on his reactions, his speech and the way he communicates.

Step 4:
Focus on developing vocabulary and focus on words that are easy to pronounce and don't have double meanings that may confuse the child. At an early age, a speech therapist may opt for concentrating on short sentences with simple grammatical structures and then move on to more common speech patterns as the child's abilities develop.

Step 5:
Treat hearing disabilities if they are present. Being unable to hear well is one of the reasons children with Down syndrome cannot communicate properly. By speaking slowly and clearly and by enunciating each word in a sentence, parents can help children progress faster towards appropriate speech.

Tips & Warnings

* You can further the help of speech therapy right at home through the use of educational toys that focus on speech and vocabulary.
* Children who have Down syndrome and grow up in bilingual homes may have an even harder time grasping the basics of the language. Parents should stick to one language or find a therapist who specializes in bilingual children.
* Practice speaking with your child about different topics to encourage eloquence and courage.
* Resist the urge to complete your child's sentences. Let him work out the expressions by himself, even if it takes him longer to get his thoughts across.

How is Down syndrome diagnosed?

Your doctor may suggest that you have tests during pregnancy to find out if your baby has Down syndrome. A screening test can help show if the baby (fetus) is at risk for Down syndrome. But these tests sometimes give false-positive results, meaning they show a problem when there is none.

Screening tests include:

* A blood test and a fetal ultrasound late in the first trimester. The ultrasound looks for thickness in the back of the baby’s neck (nuchal fold), which can be a sign of Down syndrome. This kind of ultrasound is not available in many areas.
* A blood test called a maternal serum triple screen or quadruple screen in the second trimester. By measuring substances in your blood, these tests can estimate the chance that your baby has Down syndrome or other health problems.

Your doctor may suggest a chromosome (karyotype) test if you have an abnormal screening test result or if you are worried about Down syndrome. A karyotype test has more risks than a screening test, but it can say for sure if your baby has Down syndrome.

Karyotype tests include:

* Chorionic villus sampling in the first trimester. For this test, the doctor takes a sample of cells from the placenta, either by putting a thin tube through your vagina or by putting a thin needle into your belly.
* Amniocentesis in the second trimester. For this test, the doctor puts a thin needle into your belly and takes a sample of the liquid (amniotic fluid) that surrounds the baby.

Sometimes a baby is only diagnosed after birth. A doctor may have a good idea that a baby has Down syndrome based on the way the baby looks and the results of a physical exam. To make sure, the baby’s blood will be tested. It may take 2 to 3 weeks to get the complete test results.

What causes Down syndrome?

Down syndrome is caused by problem with a baby’s chromosomes that happens long before the baby is born. Chromosomes are the part of your cells that contain your genetic material, or DNA. Normally, a baby has 46 chromosomes. But most people with Down syndrome have 47 chromosomes. In rare cases, other chromosome problems cause Down syndrome. Having extra or abnormal chromosomes changes the way the brain and body develop.

Experts don't really know what causes the chromosome problem. But some things are known to increase the chance that a baby will have Down syndrome. These things are called risk factors. They include having a:

* Mother who is over 35. The older the mother is, the higher her baby’s risk of Down syndrome. (But most babies with Down syndrome are born to mothers younger than 35, because younger women as a group have more babies than older women do.)
* Father who is over 40.
* Brother or sister with Down syndrome.