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Down syndrome is undoubtedly the most common genetic abnormality in human beings. It is an error that occurs during cell division that leads to the development of an extra gene chromosome. It can be detected by ultrasound screening during early pregnancy. In this paper, we discuss the traits associated with Down syndrome. The paper informs about the condition to get a better understanding of how Down syndrome is developed, the treatment alternatives and its prevalence in the community. The main importance of the study is to enable the determination of the resources that should be allocated to ensure the people with Down syndrome reach their full prospect in the community.
The Prevalence of Down syndrome
Down syndrome as a genetic disease affects the intellectual ability, memory, learning and other congenital diseases. Furthermore, other clinical conditions associated with Down syndrome include: heart defects, Alzheimer’s disease, leukaemia, gastrointestinal problems and hypertension Incidences of Down syndrome are not so rare since one out of a hundred newborn is diagnosed with Down syndrome.
The physical symptoms associated with Down syndrome include the curvature of the fifth finger, dysplastic ear, flat nasal bridge, hyper-flexibility, single crease of the palm, poor muscular tone, a protruding tongue, slanted eyes and small chin (Asim et al., 2015). Trisomy twenty-one is brought about by the incorporation of an additional copy of chromosome twenty-one. During cell division in the early stages of pregnancy, mosaicism deals with the error that occur in the chromosome. Therefore the victims experience a mosaic imbalance in their tissue and organs (Asim et al. 2015). The extra chromosome causes an increase in the gene appearance.
Regardless of the conditions the victims of Down syndrome experience, they should be treated as human beings. That is why people need to be aware of this condition. The main importance of determining the prevalence of Down syndrome is to enable public health institutions to know the number of resources needed for health care and education (Sherman et al., 2007).
Sherman et al., (2007) argue that the prevalence rate could be influenced by factors that affect access to healthcare, like socioeconomic status. Down syndrome is assumed to be influenced by some environmental exposure or it is just a genetic risk factor (Sherman et al., 2007). The mortality rate for the victims of Down syndrome has been low but it is improving with time. Nevertheless, a few genes are affected by the genetic imbalance and therefor causing the development of Down syndrome in the foetus.
Furthermore, Kazemi (2016) also mentions that chromosome twenty one is estimated to have more than four hundred genes. The most acceptable theory for this disorder of trisomy twenty one will be the gene dose theory. The theory states that all changes are caused by an extra copy of chromosome twenty-one (Kazemi et al., 2016).
Therefore only some genes in the chromosome are involved, whereas other genes products are more sensitive to the gene imbalance. The gene products that are affected include the morphogens, ligands, cell adhesion molecules, subunit proteins and their receptors which are the transcription regulators and transporters (Kazemi et al. 2016). Cell adhesive molecule has been identified to play a critical role in the development of the brain and it is also the major cause of Down syndrome in people (Asim et al. 2015).
During cell division, nondisjunction occurs that causes the embryo to develop three copies of chromosome twenty one. Nondisjunction occurs during cell division when the paired chromosomes get attached to one daughter cell leaving another unattached, therefore this causes an error in chromosome quantity. Down syndrome can be inherited that is why it is also called the “familial down syndrome” (Kazemi et al., 2016).
Moreover, the prevalence of this condition is widespread in many cases, considering the probability of such an occurrence to happen. Down syndrome is one of the most common genetic disorder. So far progress has been made to determine the causes and the risk factors associated with Down syndrome (Sherman et al., 2007).
There are two types of tests available to the pregnant women: screening and diagnostic. The screening test checks the risk the foetus has of developing Down syndrome. The diagnosis test now determines whether the foetus has a genetic disorder (Down syndrome). Down syndrome can be detected by ultrasound screening after fifteen weeks of pregnancy (Asim et al., 2015).
Currently, there is no cure for Down syndrome but one can undergo treatment from an early childhood stage. The treatments available are through cardiac surgery, therapies, vaccination, antibiotics and anticonvulsive drugs (Kazemi et al., 2016). This extra chromosome is detected by a process called karyotype, which is basically a visual display of the chromosomes in a cell. Chromosomes can be studied by examining tissue or blood samples (Down syndrome). The only challenge is the get access to the medical facility to do such a test and the costs to be incurred to undergo the screening and diagnosis (Kazemi et al., 2016).
Through rehabilitation, therapies and some medication, the people diagnosed with Down syndrome have shown remarkable improvements. People should consider the struggle these people undergo to reach the expectations of other normal people. However, with the recent developments, people with Down syndrome are regularly taking part in community activities.
Therefore, to determine the prevalence of Down syndrome is by firstly determining the number of patients being diagnosed with the condition in health facilities. This activity can be done on separate states and the data to be compiled to get an actual estimate. It is considered that one out of a hundred newborn is diagnosed with Down syndrome. There is a need for further research to be carried out on how prevalence the condition is in adults.
Asim, A., Kumar, A., Jain, S. M. & Agarwal, S. (2015) “Down syndrome: An Insight of the Disease” Journal of Biomedical Science, Retrieved from https://www.researchgate.net/publication/278043250_Down_syndrome_An_insight_of_the_disease.
Kazemi, M., Salehi, M. & Kheirollahi, M. (2016) Down syndrome: Current status, Challenges and Future Perspectives. (5), No. 3, retrieved from http://ijmcmed.org/article-1-518-fa.pdf.
Sherman, S. L., Allen, E. G., Bean, L.H. & Freeman, S. B. (2007) Epidemiology of Down Syndrome: Journal on Mental Retardation and Developmental Disabilities, 13, pg.221- 227. Retrieved from https://genetics.emory.edu/documents/down-syndrome/sherman_review_MRDDRR.pdf.
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