Down syndrome Assignment PDF

Running head: Down syndrome 1
Down syndrome
Student’s name
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According to Reines, et al (2017) Down syndrome, also known as trisomy 21 refer to a
genetic disorder that is caused by the presence of a third chromosome 21. The disease occurs by
chance among normal parents and chances of the disease increase as the age of the mother
increases. The disease is mostly associated with mental retardation, delayed growth and unusual
facial characteristics. The disease has no cure and medical interventions are only focused on
improving the quality of life of the infected person. With improved technology, Down syndrome
can be detected during pregnancy and the pregnancy terminated although considered illegal in
several countries. This paper focuses on the experiences of parents whose children have Down
syndrome.
In the contemporary society, little information is known about the disease and in many
societies, the disease has been attributed to religion, poverty and poor parenting. The overall
consensus is that people with the disease are highly stigmatized, discriminated and rejected. This
has led to tendencies of pity, fear or rejection to people who have Down syndrome. Many parents
who detect the disease during pregnancy usually opt to terminate the pregnancy. A greater part of
the population however still remain in the dark with little information about the causes and what
actions can be taken to prevent delivery of a child with down syndrome and the complications
and outcomes that result from the disease (Murphy, et al (2017).
Apart from growth and mental retardation, Hansson, et al (2016) argues that Down
syndrome also increases the risk of congenital and cardiac disorders, social developments such as
language and also physical abilities. The parents to such children therefore encounter several
challenges arising from the child’s special needs, the stability of their marriages due to blame
game, social and societal stigma, little knowledge on how to handle the child, uncertainties about
the future of their kids and stress. Some parents may also develop defense mechanisms to

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address anxiety that may harm the child or other members of the society. However, research on
this topic can help address some of these challenges that these parents face.
According to Douglas, Redley, & Ottmann, (2017) research should be targeted to educate
parents on how they can prevent and deal with Down syndrome. Through research, it is possible
to address some of the problems that these parents face by changing the societal perspective
towards the disease and providing information on how parents can terminate a Down syndrome
pregnancy through proper prenatal care. Through research, it is also possible to identify various
ways through which the quality of life of children with Down syndrome can be improved.
The study on how to overcome these challenges is based on a conceptual framework. The
study heavily depends on the various solutions to the challenge that have worked well in the past
and can still be used to minimize the challenges of Down syndrome in the society. For instance,
eradicating stigma will mean less challenges for both the parent and the child who has Down
syndrome. In addition, early detection and termination of a pregnancy with disability can also
provide a long term solution to the challenges associated with such a disability.

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REFERENCES
Douglas, T., Redley, B., & Ottmann, G. (2017). The Need to Know: the information needs of
parents of infants with an intellectual disability–a qualitative study. Journal of advanced
nursing.
Hansson, H., Bohnstedt, C., Olersbacken, L., Schmiegelow, K., Baekgaard, H., Stensmarker, M.,
& Schmidt, L. (2016). Challenges in Interaction and Interpretation of Symptoms and
Side-Effects in Children with Down Syndrome and Acute Lymphoblastic Leukaemia: A
Qualitative Study. Pediatric Blood and Cancer, 63(S3).
Murphy, N., Epstein, A., Leonard, H., Davis, E., Reddihough, D., Whitehouse, A., ... & Downs,
J. (2017). Qualitative analysis of parental observations on quality of life in Australian
children with Down syndrome. Journal of Developmental & Behavioral
Pediatrics, 38(2), 161-168.
Reines, V., Charen, K., Rosser, T., Eisen, A., Sherman, S. L., & Visootsak, J. (2017). Parental
Perspectives on Pharmacological Clinical Trials: a Qualitative Study in Down Syndrome
and Fragile X Syndrome. Journal of genetic counseling, 26(6), 1333-1340.