Down Syndrome

Have you ever been in a situation where you were confronted by a child who has Down Syndrome and were unsure of how to act around that child? I’m sure many of us have experienced the awkwardness that accompanies such a situation. Many people feel guilt or pity for these children, I believe these reactions result from a lack of knowledge about the condition. Which is why I have chosen this topic.

Down Syndrome is a condition that cannot be physically passed on from one person to the next. It is a genetic disorder that is inherited through our parents when something goes wrong during pregnancy. As a result, they have a combination of features typical of Down Syndrome, including some degree of cognitive disability, as well as other developmental delays. One thing we should always keep in mind is that they are children and having Down Syndrome comes second.

In 1866 British doctor John Langdon Down defined and described the characteristic symptoms of Down Syndrome but was unsure of the cause. It wasn’t until 1959 that Dr. Lejeunne and his team in Paris showed that people with Down Syndrome have an additional chromosome. We normally have 23 pairs of chromosomes, each made up of genes. The cells of people with Down Syndrome include three chromosome #21 instead of two. The extra 21st chromosome causes an extra dose of proteins. These

proteins cause the typical features of Down Syndrome. While the fetus with Down Syndrome is developing, its body cells do not reproduce as fast as usual. That is the main reason why these babies are smaller than average after birth and their brain not as big as those of other newborn children.

A child who has Down Syndrome will have exclusive individual characteristics which they have inherited from their parents. The child may resemble their father, mother, grandmother, or aunt. This is true not only for their outward appearance but also for their temperament and physical and intellectual abilities. Children with Down Syndrome have different traits, for instance some can be easy-going while other are stubborn, some may like music while others show no interest. matter what, each of these children are unique and special in their own way.

Children with Down Syndrome have distinct physical characteristics. They are short in stature and have a small, round face with a high flattened forehead and fissured, dry lips and tongue. Another typical feature is a fold of skin, on either side of the bridge of the nose, between the corner of the eyes. The hands are often broad and the fingers short. The feet are compact with a gap between the first and second toe, and their hair is soft and sleek. Such persons are also subject to congenital heart defects, many of which can be corrected surgically. They are also more likely to develop leukemia than other members of the general population.

There are three common types of Down Syndrome, the most common one being trisomy 21, which is found in about 95% of people with Down Syndrome. During pregnancy the formation of the egg or sperm, from a woman’s or a man’s pair of

chromosomes normally split, so that only one chromosome is in each egg or sperm. In trisomy 21, the 21st chromosome pair does not split and a double-dose goes to the egg or sperm. The second type is known as translocation, found in about 3% to 4% of people with Down Syndrome. With this type an extra part of the 21st chromosome gets “stuck” onto another chromosome. The third type, mosaicism, is found in about 1% to 2% of people with Down Syndrome. With this type an extra 21st chromosome is found in only some of the cells. There are two tests that can be done to detect if the child you are carrying has any type of Down Syndrome, they are diagnostic and screening tests. A diagnostic test samples fetal cells and gives a definitive diagnosis. This test is usually done between 14 and 18 weeks of pregnancy. Although fairly safe, there is a small risk of miscarriage with this test. Screening tests, on the other hand, are relatively simple tests that find most of the fetuses with Down Syndrome, but they also find some without. It is because of this that screening tests must be confirmed by a diagnostic test. In addition to these tests, a maternal blood test can suggest the presence of a fetus with Down Syndrome when levels of alphafetoprotein are lower than usual.

It is said that one out of every 700 babies will be infected with Down Syndrome. However, these odds may vary depending on the age of the mother. A child born to a woman 25 years of age has approximately a 1 in 1200 chance. A child born to a woman 40 years of age and over has a 1 in 120 chance. Children who are born with this condition can neither be cured with medical treatment nor can they outgrow the condition. Their life expectancy is generally reduced by 10 to 20 years. However, some people with Down Syndrome have been known to live into their 80’s. The effects of Down Syndrome can be

modified by providing good medical care, good education, and good parental support, all of which, unlike long ago when these children were called “mongols” and institutionalized, are provided for most children today with Down Syndrome.

In conclusion to my studies I have found Down Syndrome to be a rare, yet present condition that can be found in all parts of the world. Most people might look at the individual infected and tell themselves how lucky they are , not to have to go through what most of them do. But tell me this, how many will actually take the time to better understand the situation and actually see what makes them who they are? It’s human nature to ignore or criticize the unknown, this will always be true to a certain point. Just as the truth will always remain the same, in that these people are beautiful human beings that deserve the same respect and rights as anyone else.

Bibliography:

Down Syndrome Awareness Foundation. “Facts About Down Syndrome” 27 July, 2003.

http://www.downsyndromeawarenessfoundation.com/wsnE154.html

Hudler, Rex & Jennifer. “About Down Syndrome” Team Up For Down Syndrome. 27 July, 2003. http://www.teamupfordownsyndrome.org/aboutDS.html

Van Riper, Marcia. “Living with Down Syndrome: The Family Experience.” Down Syndrome Quarterly. Volume 4, Number 1 March 1999. http://www.denison.edu/dsq/vanriper.shtml

Works, Lee. “Diagnosis Down Syndrome” 1 July, 2002. http://leeworks.net/DDS/