As human beings, we were all genetically gifted by our parents, grandparents, and previous ancestors with genes! No, not blue jeans or Gene Simmons. Genes, the tiny blueprints made up of DNA that make us, us! Genes are responsible for the creation of proteins, which are in turn responsible for many functions in the cells that make up the body. Located across the entire length of each chromosome, genes have a critical impact on all aspects of our make-up as to who we are as a person. If and when there is some disruption or mutation in the DNA sequence, it can cause the gene to improperly function resulting in genetic disorders.
(It is important to note that genes themselves do not cause disease—genetic disorders are caused by mutations that make a gene function improperly.)
A typically developed nucleus of each cell contains 23 pairs of chromosomes, half of which are inherited from each parent. In the case of Down Syndrome, an individual has a full or partial extra copy of chromosome 21. This additional genetic material alters the course of development and causes the characteristics that are associated with the syndrome.
There are three specific types of Down syndrome: trisomy 21 (also known as nondisjunction), translocation and mosaicism. The most common of these three is nondisjuction (more commonly known as trisomy 21), which accounts for 95% of the population of those who have been diagnosed with Down syndrome. Nondisjuction results after an error is cell division, when prior to or at conception, a pair of the 21st chromosome in either the sperm or the egg does not separate, which results in an embryo with three copies of chromosome 21 instead of the typical two that replicate in every cell of the body during development.The second form of Down syndrome, which accounts for 4% of the cases, is translocation. In translocation, the total number of chromosomes in the cells remains at the typical developed fourty-six chromosomes. However, an additional full or partial copy of the 21st chromsome attaches itself to another chromosome (usually the 14th). The third and least common type of Down syndrome is mosaicism, also known as mosaic Down syndrome, that results from a mixture of two different cells: some with the atypical 47 chromosomes and some with the typical 46.
According to the Centers for Disease Control, the estimated frequency of Down syndrome is 1 in every 691 live births. This makes Down syndrome the most common genetic condition. It is assumed that currently 400,000 people within the United States have been diagnosed with Down syndrome (NDSS, 2016, pg. 1).But..even though it is the most common genetic condition, the cause of Down syndrome is unknown. Researchers have only linked maternal age as a factor linked to the probability of having a child with Down syndrome, as its likelihood increases along side the age of the mother. Ongoing research is being funded to look into other factors such as environment, activity prior to and during conception, and paternal links (NDSS, 2016, pg. 1). Because of this, approaching this syndrome with a medical anthropological standpoint can be very useful to understand and decrease the frequency, increase the life expectancy, and increase the standard of living for those that are diagnosed with Down syndrome. Under the anthropological field,there are six different approaches that can be taken: ecological/biological, ethnomedical, experiential, critical, and applied approach.
The first approach, ecological and biological, combines the ecological factors that can affect and attribute to biological functions within the human body. These approaches look at the implications that can come from various stimulation in the environment, including but not limited to: humans and other species that inhabit the earth, the culture in which they live in, and other factors that affect behavior and genetics. One of the biggest question that plagues researchers when looking at Down syndrome is why and what causes this syndrome. As I stated before, in the case of Down syndrome, an individual has a full or partial extra copy of chromosome 21. Researchers are trying to determine what genetic factors increase the probability of having a child born with Down syndrome. The cause of the extra full or partial chromosome is still unknown. Today, researchers are only able to attribute increasing age of the mother to this. Maternal age is the only factor that has been linked to an increased chance of having a baby with Down syndrome resulting from nondisjunction or mosaicism. However, due to higher birth rates in younger women, 80% of children with Down syndrome are born to women under 35 years of age (NDSS, 2016, pg. 1).
The second approach, an ethnomedical approach, tends to be very controversial in the world of Down syndrome, due to the examination of the syndrome and how society views it and other implications that are connected to it. This approach focuses on how cultures around the world view a certain disease/illness, which is directly connected to the way in which this society views, treats, and understands said problem. Using the ethnomedical approach in the case of this syndrome, the connection between abortion and Down syndrome can be used to describe this. One of the most pertinent ethical issues that is connected to Down syndrome diagnosis is termination of pregnancies after a positive diagnosis of the fetus. The two sides of this ethical issue, for and against, stem from many key points, including but not limited to religion, politics, women’s rights, and quality of life. Due to the advancements in prenatal screening and testing, the ability to discover if a fetus has Down syndrome is avaliable to every woman carrying a child. Currently, it is shown that 67% of parents who discover their child will be born with this syndrome terminate due to fear of their future and lack of knowledge about the syndrome (Selley, 2014, pg. 1).
As for the third approach, the experiential approach can be the most influential approaches in relation to continuation of gestation of a fetus diagnosed with Down syndrome. As I stated before, many parents terminate a pregnancy prior to the full understanding of what the syndrome entails and what life will be like. With the experiential approach, many lives can be changed and saved. Through this approach, three factors are looked at: narrative, experience, and meaning. Through narratives, individuals, are able to show what their illness/disease is. Through experience, individuals such as the individual themselves or their families, are able to explain their emotions, thoughts, and views as they are going through their illness/disease/syndrome. And finally through meaning, they are able to examine and adapt their life to make sense of it all. To me, this is one of the most important approaches not only for researchers but for families considering termination. By hearing stories from those with the syndrome and their families and friends, one can see the complications that rise from this syndrome, but also the beauty that comes from an individual with Down syndrome.
The video above addresses possible concerns made by parents expecting a child with Down syndrome and their fear of what the child’s life might look like.
The next and newest approach, known as the critical approach, is based on bioethics and biomedicine. After watching several of the video lectures, one can connect several topics and learn how to apply and understand them. This approach would be very beneficial to researchers who are trying to genetically map the syndrome and determine not only where it is found but what causes it and its many types. With a deeper understanding of the biomedical aspect of Down syndrome, researchers can work towards decreasing the probability of the syndrome, increase the life expectancy, and better the standard of living for those with it.
Finally, the applied approach is the end all of the medical anthropological approach, which seeks to find the solution to the issue at hand by using modern medicine with the culture in which the disease in located. By looking at it socially and medically, this method is very useful because it helps anthropologists understand what treatments are more effective in a specific subgroup of society or culture. One of the best ways to approach this in the world of Down syndrome is to analyze and focus on the statistics that are attributed to the increase in births. By focusing on a culture that has a very high prevalence and looking at the standard of living of those diagnosed with the syndrome, researchers will be able to increase the life expectancy and standard of living. These factors can be attributed to poverty, nutrition, education, and other aspects that can increase or decrease their lives.
Looking at how all these approaches work towards a better understanding of Down syndrome, I find that, in my opinion, the best approach in the grand scheme of this syndrome is the experiential approach. Not only are researchers able to understand what an individual with Down syndrome experiences with this illness, but also the emotions, thoughts, and beliefs that are connected to it as well. By looking at this approach, medical professionals and anthropologists will be able to see the world through their eyes and find ways to make sure that their standard of living increases. I find that many people do not understand what Down syndrome really means and what is doesn’t mean. It’s not a life of pain. It’s a life of beauty in the rawest form.
Jenkins, Sally. (2016). Going on offense vs. Down syndrome. Washington Post, 2016. http://www.washingtonpost.com/sf/sports/wp/2016/03/02/going-on-offense-vs-down-syndrome/.
March of Dimes. (2016). Downsyndrome. March of Dimes, 2016. http://www.marchofdimes.org/complications/down-syndrome.aspx#.
National Down Syndrome Society. (2016). What Is Down Syndrome? National Down Syndrome Society, 2016. http://www.ndss.org/Down-Syndrome/What-Is-Down-Syndrome/.
Selley, Chris. 2014. Chris Selley: Richard Dawkins and the Downsyndrome delusion. National Post, 2014. http://news.nationalpost.com/full-comment/chris-selley-richard-dawkins-and-the-down-syndrome-delusion.
WebMD,Inc. (2016). Down Syndrome Glossary of Terms. 2016. http://www.emedicinehealth.com/down_syndrome/glossary_em.htm.