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Ideally, a chromosomal condition which is related to intellectual disability, hypotonia and a flat facial appearance in infants known as Down syndrome requires explorative research. Children born with an extra copy of chromosome 21 are different from one another. These individuals have 47 chromosomes in the cell in total (Grandfield, 2013). Other physical problems may accompany Down syndrome, and this raises interest because health wise, the lives in question are affected. These may include; heart disease, dementia, hearing, skeleton, thyroid, eyes and intestinal problems. This means that these people will have to be attended by various parties related to health professionals.
The study of this disorder is essential to verify some disabilities and how to come up with solutions that will help those affected live self-fulfilling and independent lifestyles. It is imperative to explore this information concerning downs syndrome since chances for having a child with such a condition are higher in older women and it increases as the woman ages (Malak et al., 2015). Personally, I have interacted with some of the people affected and identified that, although there is no cure for downs syndrome, earlier treatment programs can aid in improving skills. These people can live happily and have lives that are productive. This treatment may include activities such educational therapy, occupational therapy, physical, and speech training.
Because innocent lives are taken through abortion on an earlier realization of the disorder, I find it being a current issue, especially in the United Kingdom. As such, there is need to deal with it in order to come up with a reasonable solution that will minimize the problems related to DS and save lives of the unborn babies.
John Langdon Down being an English physician described a person living with DS in 1966 (Wright, 2012). He was at that time recognized as the father of syndrome because he described the condition to be distinct and separate condition compared to earlier researchers. In 1959, Jerome Lejeune being a French physician found out Down syndrome as a chromosomal abnormality (Bruni et al., 2010). Lejeune observed 47 chromosomes, rather than the known 46 chromosomes present in every cell in the cells of people with Down syndrome. Later determinations indicated that an extra chromosome 21 led to traits related to DS.
An international scientist team did a research and came with findings in 2000. They identified approximately 329 genes on the 21st chromosome. The above results led to more discoveries concerning DS. Infants born with the disorder always contain an extra part of chromosome 21in each of their body cell. The form of which the disorder occurs and the number of the chromosomes may occur in the following three ways:
It is important to realize that babies with DS have to fit in with what is going on around them and what other family members need (Shulkin, 2010). Special activities help the child to develop healthy especially when in a happy, loving, and active environments where they are involved in families’ activities (Hattier et al., 2011).
Changes related to puberty occur at normal rates as other people without the disorder. They may require more information, guidance and full support because they don’t have emotional maturity (Chicoine, and McGuire, 2010). They should be given information relating to the opposite sex, acceptable behavior, body changes, and healthful living.
In essence, adults should have similar rights including; voting, working, marrying, housing, and the right to get better medical care. They should live to fulfill what they aspire just like every other individual.
People with DS live longer and have productive lives in ages of between 50 and 60. Their pattern of growing older is the same to that of the other population as a whole. Deterioration after 60 years of age is observed in hearing, vision and skin wrinkling.
They NDSS ensures that all individuals with Down syndrome get the chance to recognize what they aspire to do in future. The society is always dedicated to the leadership in protecting and ensuring they live a healthy and a life of great quality. It also ensures that these individuals realize the potential and what they require is fulfilled for them. Besides, the society has educational programs, national conferences, and award winning website. NDSS provides an in-depth report that fulfills the requirements of their constituents. The society has a board that enhances discoveries by holding conferences concerning research internationally. They fund for related studies through the partnership with the NIH and independent support.
About half of children and adults with Down syndrome go through major mental health in their lifetime (Kumin, 2008). This is more prominent to those children and adults experiencing various medical problems. Centers for Disease Control and Prevention have stated that in the US, approximately 6,000 infants are born with DS each year (Cuskelly, Hauser-Cram, & Van Riper, 2008). Being the first most occurring chromosomal cause of little to moderate cause of intellectual disability, it can occur in any economic or ethnic classes.
According to the National DS Society, more than 400000 are having this condition (Ortiz et al., 2017). The researchers have not yet identified most risk factors for Down syndrome. This research has identified the fact that there is a high chance for parents who earlier had a child with DS to give birth to another child suffering the same condition. Parents who have related chromosomal disorder to DS are also an attributing factor. Demographic factors are shown to trigger the risk of children to be born with Down syndrome in the US. Examples include; Geographic region, marital status, maternal education, autism, and Hispanic ethnicity (Ortiz et al., 2017).
In comparison with younger females, older women have a high risk that the chromosome 21 has a copy in their egg. This means that these aged women will have a high probability of siring babies with Down syndrome. Statistics shows that about 40% of infants with DS in the United States have been born by mothers aged 35 years and above (Froehlke and Zaborek, 2013).
Screening tests will be done to examine the probability of infants with downs syndrome to be born. Amniocentesis will be done in couples who have given birth earlier to a child with DS. This is an earlier form of antenatal diagnosis where a thin needle will be inserted into the uterus, and some amniotic fluid will be withdrawn for lab analysis. The fluid has some cells from the fetus and findings can be available after 3weeks. Although screening tests won't tell you whether it is by default that your baby will have Down's syndrome, they will indicate how likely it is, or the chances present for parents with downs syndrome to give birth to a child with the disorder. If testing indicates that the child will be born with Down's syndrome, genetic counseling will be done to allow the partners to discuss the impact of the diagnosis.
The fact remains that there is no "cure" for this disorder, but children with this condition will be helped so that they can live healthily and become people who can be able to live independently without relying on others for survival (Phelps, 2009).
These will include:
Different education and supporting groups will be there to provide information and a hand of support to those close to the children and adults with the disorder (Hulme et al., 2011). Improved support and education will lead to great chances for people with the disease to be able to interact with other people, seek for jobs, and live as an independent individual.
I am foreseeing that ethical issues will emerge. This is because ethical issues require that confidentiality is always maintained (Lee, 2010). Also, the research has to pay careful attention to the principle of informed consent. As such ethical issues are addressed by assessing the decision-making capacity of individuals with DS while observing confidentiality (Forrester & Griffiths, 2014).
Bruni, M., Cameron, D., Dua, S. and Noy, S., 2010. Reported sensory processing of children with Down syndrome. Physical & occupational therapy in pediatrics, 30(4), pp.280-293.
Chicoine, B. and McGuire, D.E., 2010. The guide to good health for teens & adults with Down syndrome. Woodbine House.
Cuskelly, M., Hauser-Cram, P. and Van Riper, M., 2008. Families of children with Down syndrome: What we know and what we need to know.
Forrester, K. and Griffiths, D., 2014. Essentials of law for health professionals. Elsevier Health Sciences.
Froehlke, M. and Zaborek, R. eds., 2013. When Down syndrome and Autism intersect: a guide to DS-ASD for parents and professionals.
Grandfield, T.A., 2013. Toward a behavioural phenotype for 8p23 and 9q34 deletion syndromes (Doctoral dissertation, University of Birmingham).
Hattier, M.A., Matson, J.L., Sipes, M. and Turygin, N., 2011. Communication deficits in infants and toddlers with developmental disabilities. Research in developmental disabilities, 32(6), pp.2108-2113.
Hulme, C., Goetz, K., Brigstocke, S., Lervag, A. and Snowling, M., 2011. The development of reading and language skills in children with Down syndrome. Dev Sci.
Kumin, L., 2008. Helping children with Down syndrome communicate better: Speech and language skills for ages 6-14. Woodbine House.
Lee, M.J., 2010. The problem of ‘thick in status, thin in content’in Beauchamp and Childress' principlism. Journal of medical ethics, 36(9), pp.525-528.
Malak, R., Kostiukow, A., Krawczyk-Wasielewska, A., Mojs, E. and Samborski, W., 2015. Delays in motor development in children with Down syndrome. Medical science monitor: international medical journal of experimental and clinical research, 21, p.1904.
Ortiz, B., Videla, L., Gich, I., Alcacer, B., Torres, D., Jover, I., Sánchez, E., Iglesias, M., Fortea, J. and Videla, S., 2017. Early warning signs of autism spectrum disorder in people with Down syndrome. International Medical Review on Down Syndrome.
Phelps, R.A., 2009. Teaching Children with Down Syndrome About Their Bodies, Boundaries, and Sexuality: A Guide for Parents and Professionals.
Shulkin, J., 2010. Fasten Your Seatbelt: A Crash Course on Down Syndrome for Brothers and Sisters.
Wright, M.K., 2012. Down Syndrome: Awareness and Understanding Through Children's Literature.
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