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Down Syndrome: Review

Down syndrome (DS) is the most common and leading cause of the intellectual deficiency. Patients diagnosed with DS address various health concerns, such as “congenital heart diseases(CHD), Alzheimer’s diseases (AD), leukemia, cancers, and Hirschprung disease (HD)” (Asim, Kumar, Muthuswamy, Jain & Agarwal, 2015, p. 1). It is a complex and highly inconstant health disorder, which is the outcome of the “genetic manifestation” of trisomy of chromosome 21 (Grieco, Pulsifer, Seligsohn, Skotko & Schwartz, 2015, p. 135). DS occurs in terms of abnormal cell division that involves the emergence of an extra partial or full chromosome 21. Such additional genetic material is accountable for the distinctive features and developmental disorders specific to Down syndrome. However, the current research about DS lacks the focus on the variety of other reasons that cause the syndrome.

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One of the critical factors that enhance the risk of having a child with DS is the mother’s age. More specifically, women who get pregnant at the age of 35 years or older have a higher degree of having a pregnancy affected by DS. Some parents might be the potential carriers of the genetic translocation for DS or have a risk of having a child with DS if they already gave birth to one with this syndrome. Furthermore, patients with DS face multiple problems that progress during their adulthood. Wiseman et al. (2015) examine individual differences in childhood that might lead to one of the severe risks concerning the development of DS in adulthood, which is Alzheimer’s disease (AD). Adults with DS deal with compromised language skills and changes in emotional and behavioral functioning, which refer to neurodegeneration. With that said, understanding the specific problems of Down syndrome is indeed a complicated issue. However, it is a highly significant disorder for learning about the development of neurodegeneration and designing improved and adequate therapeutic methods beneficial to everyone at risk of DS.


Asim, A., Kumar, A., Muthuswamy, S., Jain, S., & Agarwal, S. (2015). Down syndrome: an insight of the disease. Journal of Biomedical Science, 22(1), 1–9.

Grieco, J., Pulsifer, M., Seligsohn, K., Skotko, B., & Schwartz, A. (2015). Down syndrome: Cognitive and behavioral functioning across the lifespan. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 169(2), 135–149.

Wiseman, F. K., Al-Janabi, T., Hardy, J., Karmiloff-Smith, A., Nizetic, D., Tybulewicz, V. L. J., & Strydom, A. (2015). A genetic cause of Alzheimer disease: mechanistic insights from Down syndrome. Nature Reviews Neuroscience, 16(9), 564–574.

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