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Martes, Marso 12, 2013


Down syndrome (DS), also called Trisomy 21, is a condition in which extra genetic material causes delays in the way a child develops, both mentally and physically.

Frequency of births:         1/700

Frequency of Abortuses: 1/40

Chromosome basics of Down syndrome .

     a.) Addition of extra chromosome 21
     b.)  Down Syndrome due to Translocation 

 -->  Approximately 3% to 4% of individuals with Down syndrome do not inherit an entire extra chromosome 21, but just some extra chromosome 21 genes, which are attached to another chromosome (usually chromosome 14) and this phenomenon is called a translocation.

--> About 2% to 4% of people with Down syndrome inherit additional genes from chromosome 21, but not in every cell of the body. This is known as mosaic Down syndrome

The only well known risk factor for conceiving a child with Down syndrome is advanced maternal age. The older the woman is at conception, the greater the risk of having a child with Down syndrome.

Mother's age at conception Risk of Down syndrome
·         25 years 1 in 1,250
·         30 years 1 in 1,000
·         35 years 1 in 400
·         40 years 1 in 100
·         45 years 1 in 30 

Diagnosis:    A.) Screening tests during pregnancy (Ultrasound, Blood tests)
                         B.)Diagnostic tests during pregnancy (Amniocentesis, CVS 
                         C.)  Diagnostic tests for newborns(Through appearance and karyotyping)


         There is no specific treatment for Down syndrome. A child born with a gastrointestinal blockage may need major surgery immediately after birth. Certain heart defects may also require surgery. 

Needs of children with Down syndrome. . 

Like all children, children with Down syndrome greatly benefit from being able to learn and explore in a safe and supportive environment. Being included in family, community, and preschool life will help a child with Down syndrome develop to his or her full potential.
What can you do?
1.) If you're the parent of a child diagnosed with Down syndrome, you may at first feel overwhelmed by feelings of loss, guilt, and fear. Talking with other parents of kids with DS may help you deal with the initial shock and grief and find ways to look toward the future.
2.) Experts recommend enrolling kids with Down syndrome in early-intervention services as soon as possible. Physical, occupational, and speech therapists and early-childhood educators can work with your child to encourage and accelerate development.
3.) If your sibling (brother or sister) has Down syndrome, then there are some things you can do to help:
> Be patient. Your sibling will take longer to learn things or understand things.
> You could encourage her to speak clearly.
> You could help her learn skills like playing with a ball.
> You can be kind and understand that everyone has feelings.
> You can praise her when she does well.
> You can tell her calmly when she has done something which hurts your feelings or your things.
> You can show her how to do something, then let her copy each small step until she can do it, eg making the bed, tying shoelaces.

4.) Get to know them and respect them. We are all different!

Down Syndrome (2013). Retrieved on March 12, 2013 from

Heyn, S. (2013). Down Syndrome. Retrieved on March 12, 2013 from

Down Syndrome (2012). Retrieved on March 12, 2013 from
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