28 Jan 2023

104

Down Syndrome: Causes, Symptoms, and Treatment

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Academic level: College

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Down syndrome is a genetic ailment that affects many individuals. It impinges on the social life, academic and economic life of the affected individuals. It is instigated by a cell disorder that leads to limited or full replication of additional genes. The understanding of the ailment, its causes and impacts offer a basis for the management of its symptoms and assisting those distressed by the ailment to manage it. This literature review aims to clarify some of the fundamental notions regarding Down syndrome, as they are labelled by different writers. The literature review will focus on whether parents with Down syndrome can bear children with the disorder, if those affected with disease can live independently, movement abilities and submission skills and prenatal Screening, issue of Sexuality, and developmental Patterns. 

Parents with Down Syndrome bearing Children with the Disease 

According to Kruszka et al (2017), Down syndrome is the most common source of cognitive deficiency and poses clinically with commonly identifiable signs. Down syndrome people are affected by various phenotypes to a variable level. Hence, comprehending the source of this discrepancy is a fundamental challenge. Based on whether parents with down syndrome bear children with the ailment, there is an accord that Down Syndrome may have a significant impact on persons of all background and races. In this case, Asim et al. (2020) indicated that elder mothers are more expected to give birth to kids with the ailment. Females with  Down syndrome  are able to bear kids , but numerous men with the disorder regrettably are not capable. Nonetheless, it may be likely. According to Asim et al (2020), women  possess  a 35-50% probability that their  kid  may have the Down syndrome . The  parent may not have Down syndrome  as they possess the right number of genes. However, their  child might have  what is known as a translocation  Down syndrome . On the other hand, not  every individual with translocation  Down syndrome  acquires it from their  parents  -- it  might  similarly transpire by chance. 

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People with Down syndrome Living Independently 

Based on the aspect of patient with Down syndrome living independently, Coppedè (2016) indicates that it is a misconception that grown-ups with Down syndrome cannot live self-reliantly or get access to job opportunities. A growing figure of grown-ups with Down syndrome in the United States are residing self-reliantly with restricted assistance from family member, the state or nation governments. According to Hartley et al. (2015), slight percentage are able to live entirely without depending on others. However, researchers approve that although most persons with the syndrome live self-reliantly, some necessitate support and preparation to manage the ailment . In the United States, several students with Down syndrome advance from high school, and most of the learners may advance on to enrollment for post-secondary education. Anecdotally, it is believed that individuals with Down syndrome may be excellent personnel and some proprietors have re-counted a greater level of satisfaction amongst other employees when they have colleagues with Down syndrome. More opportunities are accessible for learning and occupation for individuals with down syndrome today than ever before. 

Movement Skills of Kids with Down Syndrome 

Regarding movement skills of kids with Down syndrome, they are largely delayed as compared to other kids. According to Cardoso et al. (2016), numerous young children ailing from Down syndrome face delays in realization of the early motor indicator. For example, clutching, rotating, being seated, and walking. There is a wide unpredictability in the development, with a majority achieving the milestones as early as typically developing children and some being principally inactive in achieving them. They grow at a similar pace as their general mental growth. They might take longer and require extra practice to advance their performance and they might continue to bear more trouble with responsibilities that require balance. According to Lanfranchi et al. (2015), most children attain competency in all daily gross and fine motor skills although they develop more sluggishly. Notwithstanding the existence of lax tendons and likely hypotonia, there is slight indication that they weaken controlled activities as the essential nervous system regulates every undertaking and compensates for such variables. According to Lanfranchi et al. (2015), a majority of parents are told that restoration may assist. Nonetheless, individuals should basically recognize the reasons for the slower growth that will provide plans for an effective therapy. 

Prenatal Screening, Sexuality Issues and Developmental Patterns 

Prenatal screening for Down syndrome has a significant effect on many pregnancies every year universally. Based on the effectiveness of prenatal screening for Down syndrome, Chitty et al. (2016) indicates that screening tests are capable of identifying women at increased risk of bearing a child with Down syndrome. These assessments have no dangers of miscarriages. However, they may not determine if a fetus is affected. On the other hand, According to W hooten Schmitt & Schwartz (2018), it is estimated that current screening practices reduce annual live deliveries of kids with Down syndrome by roughly 660. This leads to the loss of 400 children without Down syndrome. Most of screen-positive outcomes are improper, nonetheless, they improve invasive diagnostic processes that pose added dangers to unborn children. 

Conclusion 

Down syndrome is a genetic ailment that affects many individuals. It impinges on the social life, academic and economic life of the affected individuals. Older mothers are more expected to give birth to kids with the ailment. Females with  Down syndrome  are able to bear kids , but numerous men with the disorder regrettably are not capable. M ost persons with the syndrome live self-reliantly, some necessitate support and preparation to manage the ailment . In most cases, their communication remains inexplicable during infancy, making it difficult to converse with people. 

References 

Asim, A., Kumar, A., Muthuswamy, S., Jain, S., & Agarwal, S. (2015). Down syndrome: an insight of the disease.  Journal of biomedical science 22 (1), 41. 

Cardoso, A. C. D. N., de Campos, A. C., Dos Santos, M. M., Santos, D. C. C., & Rocha, N. A. C. F. (2015). Motor performance of children with Down syndrome and typical development at 2 to 4 and 26 months.  Pediatric physical therapy 27 (2), 135-141. 

Chitty, L. S., Wright, D., Hill, M., Verhoef, T. I., Daley, R., Lewis, C., ... & Morris, S. (2016). Uptake, outcomes, and costs of implementing non-invasive prenatal testing for Down’s syndrome into NHS maternity care: prospective cohort study in eight diverse maternity units.  bmj 354

Coppedè, F. (2016). Risk factors for Down syndrome.  Archives of toxicology 90 (12), 2917-2929. 

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

Kruszka, P., Porras, A. R., Sobering, A. K., Ikolo, F. A., La Qua, S., Shotelersuk, V., ... & Muenke, M. (2017). Down syndrome in diverse populations.  American Journal of Medical Genetics Part A 173 (1), 42-53. 

Lanfranchi, S., Aventaggiato, F., Jerman, O., & Vianello, R. (2015). Numerical skills in children with Down syndrome. Can they be improved?.  Research in developmental disabilities 45 , 129-135. 

Whooten, R., Schmitt, J., & Schwartz, A. (2018). Endocrine manifestations of Down syndrome.  Current opinion in endocrinology, diabetes, and obesity 25 (1), 61. 

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StudyBounty. (2023, September 16). Down Syndrome: Causes, Symptoms, and Treatment.
https://studybounty.com/6-down-syndrome-causes-symptoms-and-treatment-essay

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