Physical and Mental Effects of Down Syndrome - Research Paper Example

Physical and Mental Effects of Down Syndrome A relatively common genetic disorder with a series of health ramifications, Down syndrome impacts both the physical appearance as well as the cognitive abilities of the people who are born with this condition. A chromosomal disorder which is the result of the presence of an extra copy of the 21st chromosome, Down syndrome is acquired at birth and the technical term for this condition is trisomy 21. Children with this disorder face numerous challenges which manifest themselves both as the physical attributes of Down syndrome and the ensuing mental challenges caused by mental retardation. According to the National Institute of Child Health and Human Development, Down syndrome can be found in approximately 1 child in every 800-1,000 births and is a life-long condition. Seeking to explain the aspects of Down syndrome to the lay reader, the following will discuss Down syndrome in a thorough and comprehensive attempt to understand this disorder. The following research paper will commence with an overview of the condition, the factors which may lead to the occurrence of Down syndrome and discuss the ramifications of this condition on the life of an affected child as well as on later life. This research paper will begin with a concise introduction to Down syndrome as an inherited condition and will explore the health ramifications found among people with this condition. Following this, an exploration of the physical and mental effects of Down syndrome will provide much insight into the ramifications of this condition on the lives of the people it affects. After a concise analysis of the multitude of health ramifications of this disorder, an overview of the relationship between dementia and Down syndrome will focus on the correlation between these two important health issues. This will be followed by a thorough overview of the ethical issues surrounding Down syndrome and the increased likelihood of elective abortion when this condition is present. Seeking to provide a thorough introduction to guide this analysis, this research paper now turns to an introduction to Down syndrome (National Institute of Child Health and Human Development, 2009; Selikowitz 2007). Introducing Down syndrome Down syndrome is caused by a random event which occurs during the formation of reproductive cells during the early stages of a pregnancy. It has traditionally been believed that there is a link between maternal age at time of conception and the incidence of Down syndrome among newborn babies. According to the National Institute of Child Health and Human Development, there is an “incidence of Down syndrome rises with increasing maternal age” (National Institute of Child Health and Human Development, 2009) and women who have babies at an older age are much more likely than younger mothers to give birth to a baby with the condition. Accordingly, an extra copy of the 21st chromosome is most frequently found in babies of mothers who are at an advanced age. The linkages between extra 21st chromosome and Down syndrome have been scientifically established and the National Institute of Child Health and Human Development demonstrates that a woman who becomes pregnant at the age of 42, has a much greater increased risk that the baby she is carrying will be born with down syndrome. Additionally, the incidence of Down syndrome in newborn babies range from once in every 800 to 1000 births but a woman who is 42 years old has increased risk of Down syndrome in her newborn baby. By the advanced age of 42, the incidence rate increases from once in every 800 to 1000 births to once in every 60 births. Accordingly, as women age at the time of conception, it becomes more likely that the child will be born with Down syndrome. But age of 49, a woman’s likelihood that her baby will be born with Down syndrome increases to 1 in 12. Seeking to understand some of the physical ramifications of this condition, the following will explore the physical effects of Down syndrome on children today (National Institute of Child Health and Human Development, 2009; Selikowitz 2007). Physical and Mental Effects of Down syndrome According to Roberts, Price & Malkin, the physical effects of Down syndrome include a “flat facial profile, an upward slant to the eye, a short neck, abnormally shaped ears, white spots on the iris of the eye” (2007). While the existence of such features is not exclusive to people with the condition of Down syndrome, these physical attributes are most commonly associated with the condition. As mentioned above, the extra 21st chromosome leads to important cellular changes within the newborn baby which in turn have health, developmental and learning consequences. Children born with Down syndrome face important challenges in life including decreased cognitive ability, increased challenges associated with physical growth and the most obvious changes in facial features. What are some of the cognitive effects of Down syndrome on young people and adults with this condition? (Roberts, Price & Malkin, 2007) There are many characteristics associated with Down syndrome, and these include mental impairment, hearing loss, vision disorder, and congenital heart disease. While cognitive ability varies significantly with children who have Down syndrome, cognitive development can be significantly impacted by the presence of this condition. Accordingly, children with Down syndrome have historically had problems understanding was well as expressing themselves and speech acquisition may be impacted by the presence of this condition. The delay of the development of motor skills may be a feature of the existence of young people with Down syndrome and young children at times have difficulty learning how to crawl or learn to walk. From this perspective then, the development of people with Down syndrome in a variety of realms is impacted. Communication skills can also be hampered as a result of the existence of Down syndrome in the child and both parents of children with down syndrome must appreciate the challenges associated with learning specific linguistic skills at a young age. According to an article in the well-respected journal Child Development, Down syndrome has an important effect on the nonverbal communication competencies of young children. Exploring the relationship between nonverbal communication and competence communication in 18-48 month old babies, these scholars found that children with Down syndrome had significant deficits in both verbal and non-verbal communication. Accordingly, Down syndrome children expressed significant deficits in expressive and non-expressive language (Mundy et al, 1988). In addition to the challenges associated with Down syndrome in children and young people, adults with Down syndrome face a unique set of set of challenges which can dramatically influence their lives. Accordingly, adults with Down syndrome generally have fertility issues; men with Down syndrome generally cannot father their own children and women with Down syndrome who wish to give birth generally face a variety of impediments to conceiving naturally. Accordingly, the life expectancy of a person with Down syndrome is also limited. Although in 1980 the life expectancy of a person with down syndrome used to be a mere 25 years, a recent study has demonstrated that the number has almost doubled in the average life expectancy of a person with down syndrome in United States of America is 49 years. From this perspective then, the life opportunities for people with down syndrome seem to be increasing however the short life expect expectancy is a major component of this genetic disorder and ensures that people with down syndrome will live about half as long as the average American. Looking at independent living, this may or may not be possible for person with Down syndrome. Levels of care have changed over time and with a focus on independent living, some people with Down syndrome are able to live on their own and take care of themselves. What is important to note is that the onset of dementia and other mental illnesses associated with Down syndrome will significantly affect the ability of people with this condition to live independently. Much research has been undertaken in the field of Down syndrome awareness and this can be seen by the dramatic increase in life expectancy for people Down syndrome in United States, more and more people are learning to live with this disorder and live comparatively long and relatively healthy lives in the 21st century (Mansfield, C., et al., 1999). Dementia and Down syndrome Despite the fact that many people with the condition of Down syndrome live relatively healthy and happy lives, the relationship between Down syndrome and the onset of the dementia remains an important issue for people with this condition. Furthermore, there is an increased incidence of an early onset of dementia which resembles Alzheimer's disease in people with Down syndrome. Seeking to address the relationship between early dementia and Down syndrome, a recent article in the American Journal on Mental Retardation aimed to explore the correlation between these two conditions. Understanding that the prevalence of dementia in the general population increases with age, this article highlights the fact that people with Down syndrome have a decreased in life expectancy and only 20% of all people of Down syndrome in the United States live above the age of 55 years old. Accordingly, dementia appears much earlier in the lives of people with Down syndrome than it does with the general population. What can account for this phenomenon? People with Down syndrome reportedly age much sooner than the general population has been documented that by their early 40s, people Down syndrome experience neuropathological changes which have been associated with the onset of dementia in the general population. Accordingly, these scholars have found that the variability of dementia in people with Down syndrome is related to the level of mental retardation prior to the onset of dementia. Thus, people with significant impairment prior to the onset of aging are more susceptible to dementia in later life (Bush & Beail, 2008). Ethical Issues surrounding Down Syndrome While Down syndrome, a condition caused by an additional chromosome, is not an ethical issue in and of itself, this condition does raise important issues surrounding the termination of pregnancy. During various stages of pregnancy, the screening of a fetus is commonly undertaken to ensure that a baby does not have certain complications which will affect life chances as well as the fact the chance that its birth will be successful. Both invasive and noninvasive screening which can predict the likelihood that a child will be born of down syndrome are offered to women during both the first and second trimesters is of a pregnancy. Despite the fact that the likelihood that a child may be born with Down syndrome is significantly increased with the age of the mother, remember that by the age of 49 the chance that a baby will be born with down syndrome increases to 1 in 12, all pregnant women are offered screenings which can predict whether or not a baby is born with certain complications which will in fact affect its life chances. The challenges associated with false positives are important to consider, particularly with respect to the chance that a baby will be born with Down syndrome following a visual ultrasound confirmation that this is the case, but something which raises important ethical questions is the increased likelihood that a parent will voluntarily elect to abort their child due to the incidence of Down Syndrome. According to an article in the scholarly journal Prenatal Diagnosis, between 91% and 93% of all American pregnancies in which Down syndrome was determined prior to give us prior to delivery, were voluntarily terminated. This incredibly high incidence of elective abortion in light of the diagnosis of Down syndrome any child raises some important ethical issues. Are children with Down syndrome less appealing to parents or are they desirable as children? While fully understanding that the lives of children with Down syndrome will be full of additional hurdles, especially in light of the important cognitive and developmental challenges people with this condition face, it is shocking that more than 9/10 pregnancies in which a diagnosis of Down syndrome is found end in elective abortion. While not venturing into the controversial issues surrounding the ethics of abortion, it remains shocking that such practice occurs in such great numbers. Accordingly, this may be an example eugenics in the modern twenty-first century and raises important questions about the rights of people with disabilities. Furthermore, elective abortion based upon perceived disability remains mired in controversy and an issue which will remain hotly contested within the scholarly research community (Mansfield, C., et al. (1999). Concluding Remarks Down syndrome is a common inherited genetic disorder with numerous health consequences. This condition affects both the physical appearance and the cognitive abilities of the people who are born with this disorder. Caused by a chromosomal disorder which results in an additional copy of the 21st chromosome, Down syndrome is acquired at birth and continues throughout one’s lifespan. Found in between 1 and every 800-1,000 births, Down syndrome affects children and adults and significantly impacts the physical appearance of the people whom it affects, as well as their developmental and cognitive abilities. There is a direct relationship between the maternal age of conception and the likelihood of Down syndrome although the onset of this disorder is believed to be a random occurrence in most cases. While the life expectancy of people with Down syndrome is compromised by the presence of this disorder, it is important to note that the life expectances of people with Down syndrome have been significantly increasing from a low thirty years ago to a much higher number today. Despite this, people with Down syndrome face a series of important health challenges including mental retardation, a significantly shorter life and the fertility challenges for both men and women. The early onset of dementia is an important condition which has a correlation with Down syndrome and has been proven to significantly affect the lives of people with this disorder. This research paper has explored the relationship between Down syndrome and dementia as well as the important ethical concerns surrounding Down syndrome and elective abortion. According to a published scholarly account of the phenomenon of elective abortion and certain genetic conditions, there is a strong likelihood that women carrying children with Down syndrome will elect to abort their fetus. Down syndrome and the increased likelihood of elective abortion when this condition is present poses important ethical questions surrounding the morality of such action. With the aim of providing a holistic and introduction to Down syndrome, this research paper has provided a thorough analysis of a complex and at times controversial, medical condition. References Bush, A. & N. Beail. (2008). “Risk Factors for Dementia in People With Down Syndrome: Issues in Assessment and Diagnosis”. American Journal on Mental Retardation, 109(2): 83–97. Kingsley, J. (2007). Growing Up with Down Syndrome. New York: Houghton Mifflin Harcourt. Mansfield, C., et al. (1999). "Termination Rates after Prenatal Diagnosis of Down syndrome, Spina bifida, Anencephaly, and Turner and Klinefelter syndromes: A Systematic Literature Review". Prenatal Diagnosis, 19 (9): 808–812. Mundy, P. et al. (1998). “Nonverbal Communication Skills in Down Syndrome Children”, Child Development, 59(1): 235-249. National Institute of Child Health and Human Development. (2009). Facts About Down Syndrome. Last Accessed November 11 2009, http://www.nichd.nih.gov/publications/pubs/downsyndrome.cfm Roberts J.E , J. Price & C. Malkin. (2007). Language and communication development in Down syndrome. Mental Retardation and Developmental Disabilities Review 13(1): 26–35. Selikowitz, M. (1997). Down syndrome: The facts. New York: Oxford University Press. Read More