Down Syndrome

By: Macie Huntley

What other names are there for this disorder?

Another common name for Down Syndrome is Trisomy 21.

What causes the disorder? & What chromosome is affected?

Down Syndrome is caused by a random error in cell division also known as nondisjunction. This random error results in a extra copy of chromosome 21.

Are there prenatal tests for this disorder?

Down Syndrome is diagnosed before (prenatally) and after birth (postnatally). During pregnancy, there are two types of tests that can be preformed to look for Down Syndrome- screening test and a diagnostic test. Screening tests look to see what the risk of your baby having Down Syndrome is. If the screening tests show a high risk a diagnostic test can then be performed. The two main tests for a diagnosis are amniocentesis and chorionic villus sampling.

What are the symptoms?

There are many physical and intellectual symptoms with Down Syndrome. Some physical symptoms are:

  • decreased muscle tone
  • flattened face/nose
  • small head, ears and mouth
  • eyes slanting up
  • wide, short hand with small finger

Other intellectual symptoms:

  • impulsive behavior
  • speech problems
  • small attention span
  • slow learning

What population is affected?

According to Centers for Disease Control and Prevention, almost 6,000 babies are born with Down syndrome a year, making it 1 out of every 650 live births. More than 400,000 people are currently living with Down syndrome in the United States.

Can anyone be a candidate for this disorder?

Yes, anyone can be a candidate for Down syndrome because it doesn't have to be something that is inherited from family.

How is Down Syndrome inherited?

Most cases of Down Syndrome are not inherited. This is because Down Syndrome is caused by an error in cell division. It is not something that is passed down by family. Therefore, anyone is capable of getting this genetic disorder.

What kind of medical assistance will the affected child need?

Children affected by Down Syndrome need extra care and help with speech, physical, and occupational therapy's. These extra cares need to be started early in the child's life to help stimulation develop more fully.

Will more assistance be needed as the child gets older?

As a child with Down Syndrome gets older, many are capable of living on their own and getting jobs. Less medical attention and help is needed but, it is still important that they see a healthcare provider regular and are very involved in the community.

What is the long-term outlook for the child?

The long-term outlook for the child is that their Down Syndrome will not be cured. Most people with Down Syndrome learn how to do things on their own and can live alone. The child will be just like any other adult but with some disabilities.

Are there any treatments or cures?

There is no cure for Down Syndrome but the best treatment is to always give positive support to the child, get involved with good educational programs, and always simulate a good environment at home. These will help the child develop to their full potential. The main goal of treatment is to improve the child's speech, memory, and learning.

Could Down Syndrome have been prevented?

There is no way to prevent Down Syndrome. Although, if you are at a high risk of having a child with Down Syndrome or have already had a child with Down Syndrome you may want to consult with a genetic counselor before getting pregnant.

Can someone affected with Down Syndrome have children? & Will those children be affected?

At least half the women who are born with Down Syndrome are able to fertilize. 35 to 50 percent of kids born to mothers with Down Syndrome are most likely to have Down Syndrome as well.

What is the current research status on Down Syndrome?

One current piece of research is work done by Dr. Lawrence. Dr. Lawrence was working on inserting mice with the XIST gene. This gene plays a role in turning off one out of the two X chromosomes in female mammals. This research showed to be a little bit effective in the mice. If the study keeps going, a cure may be found.

Is there a cure/treatment coming soon?

As stated earlier, there is no cure as of right now but many scientist are working on pills and treatments to cure Down Syndrome. The treatments right now are the same as they have been over the years and haven't changed much.

Extra facts

There are 3 types of Down Syndrome:

  1. Trisomy 21- an extra copy of chromosome 21 in every cell
  2. Mosaicism- an extra chromosome in in some but not all cell's
  3. Translocation- only an extra part of chromosome 21