Down Syndrome by Will Drendel
also called Trisomy 21
What causes Down Syndrome?
Down syndrome is caused by nondisjunction. There is an error in cell division as the embryo is being developed. Normally, a human is born with 46 chromosomes total, 23 from the mother and father. When Down syndrome is inherited, and extra or abnormal cell is added to the 46 making it 47 chromosomes. With an extra chromosome, they tell the brain how to develop a different way.
What gene or chromosome is affected by Down Syndrome?
The chromosome that is affected is chromosome 21. The reason Down syndrome is also classified as Trisomy is because in this disorder, there are three 21 chromosomes instead of two. In the other name for Down syndrome, the root word "tri" shows that there are 3 chromosomes.
Are there prenatal tests for Down Syndrome?
Yes there are prenatal tests for Down syndrome. These tests include amniocentesis and chorionic villus. Doing these tests have some complications, for example there is a small risk it could result in a miscarriage. The chances of miscarriage are 1% (a sample is taken of the sac of fluid surrounding the baby, studies show that it can break causing miscarriage)
What are symptoms for Down Syndrome?
-Decreased or poor muscle tone
-Short neck with excess skin at the back of the neck
-Small head, ears, and mouth
-Wide short hands with short fingers
What population is affected?
400,000 humans are affected by Down syndrome right now in the United States. Around 6,000 children are born with this disorder every year. 1 out of every 691 children will be born with Down syndrome.
Can anyone be a canidate for Down Syndrome?
Yes, the chances are random and anyone born can inherit Down syndrome. There is nothing that will increase the chances of you getting Down syndrome.
How is Down Syndrome inherited?
There is nothing about the parent's genes or body that causes Down syndrome. The reason is only because something goes wrong in the egg or in the sperm, no gene inheritance from parents. It is impossible for you to carry Down syndrome unless you actually have the disease, the chances of inheriting it are completely random.
What kind of medical assistance will the affected child need?
There is not a standard treatment for Down syndrome. It all depends on the patient and the needs of the child. There is a lot of variety when it comes to people working with children or adults with Down syndrome. Some of these workers include special educators, physical trainers, physical therapists, and speech therapists. All workers need to provide stimulation and encouragement.
As the child gets older, will further assistance be required?
It depends on the condition the child is in, and the judgement of their parents deciding if they still need assistance. If one of the workers observes that the child is improving and starting to be able to function and work for themselves, then they might be able to eventually cut of the assistance. If the child is not making progress and still needs help with daily tasks, assistance is recommended until the child learns to take care of their self.
What is long-term outlook for the child?
There should we outlook for the child as long at it is needed. As I said earlier, the outlook should be eliminated once the child or parent feels he/she can function by their self.
Are there any treatments or cures?
No there is not a cure for Down syndrome, although there are many treatments. The treatments are used to control symptoms and managing resulting medical conditions. Some support groups are used as treatment for children affected to go and talk and do exercise that can help them cope with the aspects of Down syndrome. They also need to have regular checkups, medication, and sometimes surgery.
Can this disorder be prevented?
There is no way that Down syndrome can be prevented.
Can this child have children in the future?
In the past, people thought that males and females with Down syndrome were infertile and were not able to have kids. It is possible, most choose not to. Many adults with Down syndrome choose to go as far as marriage. The reason they make this decision is because they feel that they won't be able to take care of the child without help.
Will those children be affected?
In this case, if a Down syndrome couple decided to have a child, there is a chance that the child will have this disorder. But the chance is 1%, just because the parents have it doesn't prove anything. The child has the same chance to inherit this disorder, as any other child in the world can inherit it.
Current status of research on Down Syndrome?
The current focus on the study of Down syndrome is learning the mechanisms of the symptoms. This is the only thing that is being focused on, besides trying to find a cure for Down syndrome.
Is a cure for Down syndrome coming soon?
There are rumors that a cure for Down syndrome could be close and scientists are working very hard on finding it right now. They are trying to find a way to silence or take away that extra chromosome.