Down Syndrome as the Most Common Genetic Condition in the US

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Everyone has heard about Down syndrome and met at least one person with this condition. There are some common characteristics of people with Down syndrome. They have a flat face with slanted eyes and a wide mouth. Their heads are round; foreheads are narrow; hair is soft and rare. Hands and feet are short and wide. According to Hartley et al. (2014), “Down syndrome is the most common genetic condition in the United States, currently affecting approximately one in 700 live births” (p. 2).

It means that almost 6,000 babies are born with this condition every year only in the United States of America. Although there are a lot of children and adults with Down syndrome, there are still a lot of misconceptions about this disorder. For instance, when people hear about Down syndrome they often think of people who are not smart or not able to learn. Indeed, Down syndrome is a genetic disorder that is associated with some level of learning disability and physical and mental developmental delays. Nevertheless, it does not mean that people with Down syndrome cannot read, write, and live life to the fullest.

Firstly, to describe Down syndrome and the life of people with this disorder, it is necessary to give a scientific definition to this condition and underline the causes. According to Stanford Children’s Health (n.d.), “Down syndrome is a genetic disorder that involves birth defects, intellectual disabilities, characteristic facial features; it often involves heart defects, visual and hearing impairments, and other health problems” (para. 2).

The main cause of Down syndrome is a gene problem that refers to an error in cell division. This problem happens before birth and results in an extra 21st chromosome. Thus, this extra chromosome is the reason for physical and mental developmental problems. Potter (2016) underlines that there are different genetic variations related to the problems with the 21st chromosome. The most common variation is called Trisomy 21. It is normal when the child has two copies of the 21st chromosome in every cell. In the case of Trisomy 21, the baby has three copies. Besides, there is another form of Down syndrome, so-called Mosaic Down syndrome. It is also caused by an extra copy of the 21st chromosome. However, not all cells have this copy. Translocation Down syndrome is the third genetic variation. It happens when a part of the 21st chromosome moves and becomes connected with another chromosome. It is worth mentioning that all scientists agree that environmental and behavioral factors do not cause Dawn syndrome.

The question of how to take care of people with Down syndrome arises. It is important to understand that these people need special health care. Therapy plays a key role in caring. Skotko, Davidson, and Weintraub (2013) state that “only 29.7% of children with Down syndrome have an established medical home and are more than two times more likely to have unmet needs for care and family support than children with other special health care needs” (p. 430).

It is recommended for parents to find caring health care providers and therapists. Rudolph and Mohler (2014) state that to develop muscle tone, physical therapy should be provided every week. Speech therapy is also important. It helps children with Down syndrome to acquire social skills and develop their speech. Moreover, educational therapy is to be taken into account as soon as possible. Apart from this, it is necessary to emphasize that every child with Down syndrome should have his or her own Individualized Educational Program at school. However, the most important thing in caring is the atmosphere. It cannot be denied that children with Down syndrome need more love and attention than ordinary children. It is essential not to forget that children with this disorder are not weird. People with Down syndrome are also people, and it is the first thing to remember. All in all, an appropriate environment and atmosphere that suit a child with special needs is to be created.

Unfortunately, the majority of people do not know enough about Down syndrome. That is why they tend to have some misconceptions. There are some common myths related to people with Down syndrome. Probably, the most common myth is the statement that people with Down syndrome are not smart. To be quite honest, I used to think so too. However, five years ago my mother gave birth to my sister who had Down syndrome. Looking at her, I understand that the belief that people with Down syndrome cannot learn has nothing to do with reality. Although it is hard for my sister to learn and speak, the progress is obvious.

Moreover, most people think that children get Down syndrome because of old parents. De Graaf, Buckley, and Skotko (2015) state that about 80 percent of children with Down syndrome are born to women whose age is under 35. Besides, many people are sure that children with this disorder cannot integrate into society. However, it is not true. People with Down syndrome live life to the fullest. They are involved in all educational and social activities. For instance, children with Down syndrome go to ordinary schools and universities, play some sports, and have friends. What is more, contrary to popular belief, adults with Down syndrome are employable?

In conclusion, having thought of it twice, I would like to emphasize that Down syndrome is a very common disorder. There are three genetic variations that cause Down syndrome: Trisomy 21, Mosaic Down syndrome, and Translocation Down syndrome. The treatment of children with Down syndrome includes physical, speech, and educational therapies and social support. The main purpose of caring is social adaptation. Children with Down syndrome have the same needs as ordinary children – they need a family, attention, and love. There is no doubt that children with Down syndrome can develop like healthy children.

If a child with special needs lives in an appropriate environment, he or she does not feel like an outsider. On the contrary, such a child develops quickly, learns, and lives a normal child’s life – plays with other children, reads books, and goes to the cinema. However, there are a lot of myths about Down syndrome. For instance, a lot of people think that people with Down syndrome cannot live a full life because their abilities are limited. It is not true. Some of such people can achieve success. There are examples of people with Down syndrome who have become famous and successful. For instance, Pablo Pineda is a well-known writer, speaker, and actor; Michael Johnson is a famous painter; Sujeet Desai is a musician who has received a lot of awards.

References

De Graaf, G., Buckley, F., & Skotko, B. G. (2015). Estimates of the live births, natural losses, and elective terminations with Down syndrome in the United States. American Journal of Medical Genetics Part A, 167(4), 756-767.

Hartley, D., Blumenthal, T., Carrillo, M., DiPaolo, G., Esralew, L., Gardiner, K.,… Lott, I. (2015). Down syndrome and Alzheimer’s disease: Common pathways, common goals. Alzheimer’s & Dementia, 11(6), 700-709.

Potter, H. (2016). Beyond trisomy 21: Phenotypic variability in people with Down syndrome explained by further chromosome missegregation and mosaic aneuploidy. J Down Syndr Chr Abnorm, 2(109), 2.

Rudolph, U., & Mohler, H. (2014). GABAA receptor subtypes: Therapeutic potential in Down syndrome, affective disorders, schizophrenia, and autism. Annual Review of Pharmacology and Toxicology, 54, 483-507.

Skotko, B. G., Davidson, E. J., & Weintraub, G. S. (2013). Contributions of a specialty clinic for children and adolescents with Down syndrome. American Journal of Medical Genetics Part A, 161(3), 430-437.

Stanford Children’s Health (n.d.). Down Syndrome (Trisomy 21). Web.

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Down Syndrome as the Most Common Genetic Condition in the US

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