PART 4: DOWN SYNDROME PART 4: DOWN SYNDROME

Running head: PART 4: DOWN SYNDROME
PART 4: DOWN SYNDROME
Name of the Student:
Name of the University:
Author note:

1PART 4: DOWN’S SYNDROME
Executive Summary
Down Syndrome is a debilitating genetic disorder which not only brings forth a number of health
complications but also poses critical ethical questions. The following report aims to evaluate the
issues of ethics, genetic treatment and additional interventions for the management of Down
Syndrome. Genetic treatments and testing, despite being beneficial, continue to be treated with
controversial concerning the ethical conflicts surrounding them. Nutritional, occupational and
medicinal interventions may be considered as alternative approaches to combat the adverse
health outcomes and improve wellbeing in Down Syndrome patients. Likewise, health
professional must aim to educate parents and others, on the characteristic features and
specialized care options for such individuals.

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Table of Contents
Introduction..........................................................................................................................3
Ethical Considerations.........................................................................................................3
Impact of Genetics on Care Improvement, Health Outcomes and Costs............................4
Changes in Care Approaches...............................................................................................6
Educational Plan..................................................................................................................7
Conclusion...........................................................................................................................7
References............................................................................................................................9
Appendices........................................................................................................................14
Appendix 1: Educational Plan (As designed by the Author).........................................14

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Introduction
Despite advancements in science and technology, as researched by Diamandopoulos and
Green (2018), ethical issues continue to plague parents of such children, coupled with societal
acceptance of such individuals. Healthcare professionals must enlighten themselves concerning
such ethical issues as well as the role of genetics during mitigation of such symptoms. After
extensive previous discussions on the chromosomal, policy and nutritional issues associated with
Down Syndrome, this assignment will focus on the following thesis statement:
Thesis Statement: To explore and evaluate various ethical issues, role of genetics, additional
approaches and educational strategies for the management of such genetic disorders such as
Down Syndrome.
Ethical Considerations
Children with this genetic disorder continue to face societal rejection, unacceptability and
prohibition in intimate familial relationships or social networks. Likewise, parents continue to
feel apprehensive about proceeding with the delivery of their baby upon obtaining screening
information on the presence of abnormalities. Rates of choosing to abort a baby detected to be in
possession of Down Syndrome, continue to emerge, and have been documented to range from
60% to 90% (Crombag et al., 2016). As researched by Gekas et al., (2016), further ethical issues
have emerged with the introduction of genetic advancements in healthcare and screening, such as
maternal prenatal screening or non-invasive prenatal testing for identification of fetuses with
Down Syndrome. According to De Jong Maya and Van Lith (2015), the assessment procedures
of non-invasive prenatal testing involves the screening of cell free maternal DNA in blood for

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trisomy 21 detection and poses several advantages such as absence of miscarriage risks, high
rates of detection and reduced rates of obtaining positive results which are false. As researched
by Barter et al., (2017), while such forms of testing has been advocated as beneficial for the
prevention of discrimination subjected to individuals with such genetic disorders and resultant
deformities, criticisms have emerged in the form for serious ethical concerns. As examined by
Benn and Chapman (2016), practicing and legalizing such assessment procedures serves to be a
potential harm to the rights and choice of individuals with Down Syndrome, to survive, be
accepted and lead lives of fulfillment. Such practices as researched by de Jong and de Wert
(2015), not only harm the personal rights of Down Syndrome patients but also reduce the
possibilities of personal interaction and enhancing the inclusion of such individuals in
mainstream society. Additionally, adherence to such practices increases public scrutiny of the
reproductive choices and decisions of a family, which is highly personal resulting in breaching of
confidentiality (Lau & Ahmed, 2016).
Impact of Genetics on Care Improvement, Health Outcomes and Costs
Individuals with Down Syndrome present and array of health disorders such as increased
susceptibilities towards diseases such as hypothyroidism, cardiovascular deformities and
congenital heart defects, leukemia, dysfunctional vision and hearing abilities, celiac disease and
gastro-esophageal reflux (Karmiloff-Smith et al., 2016). Treatment in these individuals are
dependent on the unique symptoms presented by each patient and thus, an existence of multiple
diagnosis of disorders will result in rising health costs for Down Syndrome (Bergström et al.,
2016). Additionally, patients with Down Syndrome are susceptible to deformities in the
cardiovascular system, intestinal blockages and visual malfunctioning such as cataracts.
Considering surgical procedures as the most viable treatment procedures for such medical

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complications, usual treatments are associated with increased health costs (Santos et al., 2019).
Parents may be required greater vigilance and specialization of educational procedures and
development strategies considering the cognitive and milestone delays in Down Syndrome.
However, despite the expenses, individual’s with Down Syndrome receiving usual treatments
continue to live lives with possible health outcomes and healthy social relationships (Kim et al.,
2017).
Non-invasive maternal prenatal testing continue to be one of the most prevalent trends
associated with the genetic management of Down Syndrome. Here the role of genetics proves to
be beneficial since early detection of Down Syndrome will result in reductions of the costs
associated with the multidisciplinary treatment procedures necessary in Down Syndrome
management (Mersy et al., 2015). However, genetic screening practices of the preventive type
have raised ethical controversies where conflicts exist between human rights advocates and
sections believing that early detection can at least result in careful planning prior to welcoming
of the Down Syndrome baby further leading to planned healthcare costs and treatment coupled
provision of a scope for increased interpersonal relationships (Santalahti, Petrogiannis &
Tymstra, 2017).
Recent research discovered genetic interventions which may silence the concerned
malfunctioning genes in Down Syndrome. Experimental research reported the insertion of the
XIST gene – a gene prevalently used for silencing the second female mammal chromosome X –
resulted in the silencing of the additional chromosome 21 characterized in Down Syndrome.
Petri dish observational procedures reported enhanced cerebral cell development as compared to
those lacking in the XIST gene (Kazemi, Salehi & Kheirollahi, 2016). Hence, such innovative
genetic interventions will not only ensure individual survival but also improve health outcomes

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by preventing the additional costs and health deformities associated with the care of Down
Syndrome. Genetic interventions continue to be plagued by ethical controversies where it has
been argued that such innovations are similar to abortions since they completely destroy the
unique identity of individuals and strengthen the stereotypical rejection associated with Down
Syndrome (Löwy, 2018). However counter arguments attempt to enlighten that such innovations
may alter only a part of a child’s capabilities and is unlike abortion which absolutely eliminates
an unborn fetus. Hence, despite the advantages associated with genetics oriented treatments in
Down Syndrome, existing ethical debates necessitate increased evidence based research on the
same (Hill et al., 2016).
Changes in Care Approaches
Down Syndrome results in a wide range of diseases which require comprehensive
medical treatments resulting in adverse outcomes and detrimental health effects. Such adversities
are often associated with in adults with Down Syndrome who exhibit neurodegenerative
symptoms of Alzheimer’s and dementia (Wiseman et al., 2015). Additional therapeutic
approaches may be required of which, pharmacotherapy have been proven to be of considerable
efficacy. Medications with donepezil have been found to effective in the treatment of such
cognitive adversities in Down Syndrome (Caraci et al., 2015).
Additionally, individuals with Down Syndrome have also been found to exhibit
physiological deformities and hence the resultant difficulties in motor activities. Hence for the
improvement of mobility outcomes and prevention of occupational hazards alternative
approaches such as occupational therapy, mild exercise adherence and creation of safe home
environments with supports may prove to be beneficial (Silva et al., 2017). Further, as discussed

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previously nutritional interventions may be required to prevent the adversities of deficiencies in
Down Syndrome patients suffering from celiac disease or gastrointestinal disorders. Adherence
to diets rich in folic acid and B Vitamins may be prove to be preventive strategy to deal with
excessive homocysteine associated MTHFR deficiency - a key causative factor of this genetic
diseases in maternal diets (Sukla et al., 2015).
Educational Plan
For the purpose of educating parents, colleagues and additional professionals concerning
the characteristic features of Down Syndrome, simplified information presentation applying
displaying factual information using pictorial sources may prove to be beneficial and may
include posters, brochures, charts or presentations (Carlisle, 2016). Likewise expecting parents
may be provided with genetic counseling to enlighten them on preventive screening techniques,
which however, must only be considered based on parental consent and existing ethical and legal
requirements (Van Herwegen, Ashworth & Palikara, 2018). Parents have also be educated on the
importance of providing a stimulated and occupational safe home environment coupled with
availability of special toys and learning areas for prevention of hazards as well as enhancement
of motor abilities. Teachers may be educated on the usage of specialized language and speech
educational plans (Kendall, 2019). Most importantly, health professionals must aim to educate
teachers, parents and colleagues on the need to accept Down Syndrome patients as human beings
deserving basic respect, dignity and acceptance (Nelson Goff et al., 2016). For further insight, a
tabulated educational plan has been documented in the Appendices.

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Conclusion
Hence, to conclude, Down Syndrome contributes to significant ethical issues associated
with preventive genetic screening measures and lack of acceptance surrounding such
populations. Despite possible benefits of genetic treatments in comparison to usual interventions,
further research is still required concerning ethical complications. Pharmacotherapy,
occupational, exercise and nutritional therapy may be considered as additional approaches to
manage adverse outcomes. Health professionals must aim to educate parents and teachers
concerning this disease using innovative, detailed yet simplified techniques.

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References
Barter, B., Hastings, R. P., Williams, R., & Huws, J. C. (2017). Perceptions and discourses
relating to genetic testing: interviews with people with Down syndrome. Journal of
applied research in intellectual disabilities, 30(2), 395-406. doi:
https://doi.org/10.1111/jar.12256.
Benn, P., & Chapman, A. R. (2016). Ethical and practical challenges in providing noninvasive
prenatal testing for chromosome abnormalities: an update. Current Opinion in Obstetrics
and Gynecology, 28(2), 119-124. Retrieved from:
https://journals.lww.com/co-obgyn/Abstract/2016/04000/Ethical_and_practical_challeng
es_in_providing.9.aspx.
Bergström, S., Carr, H., Petersson, G., Stephansson, O., Bonamy, A. K. E., Dahlström, A., ... &
Johansson, S. (2016). Trends in congenital heart defects in infants with Down
syndrome. Pediatrics, 138(1), e20160123. Retrieved from:
https://pediatrics.aappublications.org/content/pediatrics/138/1/e20160123.full.pdf.
Caraci, F., Iulita, M. F., Pentz, R., Aguilar, L. F., Orciani, C., Barone, C., ... & Cuello, A. C.
(2017). Searching for new pharmacological targets for the treatment of Alzheimer's
disease in Down syndrome. European journal of pharmacology, 817, 7-19. doi:
https://doi.org/10.1016/j.ejphar.2017.10.004.
Carlisle, J. B. (2016). Down syndrome: primary physicians and parents partner in
care. Contemporary Pediatrics, 33(8), 39. Retrieved from:

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https://search.proquest.com/openview/690061488e33dedcd4c1360097a07e27/1?pq-
origsite=gscholar&cbl=34319.
Crombag, N. M., Boeije, H., Iedema-Kuiper, R., Schielen, P. C., Visser, G. H., & Bensing, J. M.
(2016). Reasons for accepting or declining Down syndrome screening in Dutch
prospective mothers within the context of national policy and healthcare system
characteristics: a qualitative study. BMC pregnancy and childbirth, 16(1), 121. doi:
https://doi.org/10.1186/s12884-016-0910-3.
de Jong, A., & de Wert, G. M. (2015). Prenatal screening: an ethical agenda for the near
future. Bioethics, 29(1), 46-55. https://doi.org/10.1111/bioe.12122.
De Jong, A., Maya, I., & Van Lith, J. M. (2015). Prenatal screening: current practice, new
developments, ethical challenges. Bioethics, 29(1), 1-8. doi:
https://doi.org/10.1111/bioe.12123.
Diamandopoulos, K., & Green, J. (2018). Down syndrome: An integrative review. Journal of
Neonatal Nursing, 24(5), 235-241. doi: https://doi.org/10.1016/j.jnn.2018.01.001.
Gekas, J., Langlois, S., Ravitsky, V., Audibert, F., van den Berg, D. G., Haidar, H., & Rousseau,
F. (2016). Non-invasive prenatal testing for fetal chromosome abnormalities: review of
clinical and ethical issues. The application of clinical genetics, 9, 15. doi:
https://dx.doi.org/10.2147%2FTACG.S85361.
Hill, M., Johnson, J. A., Langlois, S., Lee, H., Winsor, S., Dineley, B., ... & Advani, H. V.
(2016). Preferences for prenatal tests for Down syndrome: an international comparison of
the views of pregnant women and health professionals. European Journal of Human
Genetics, 24(7), 968. Retrieved from: https://www.nature.com/articles/ejhg2015249.

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Karmiloff-Smith, A., Al-Janabi, T., D'Souza, H., Groet, J., Massand, E., Mok, K., ... &
Tybulewicz, V. (2016). The importance of understanding individual differences in Down
syndrome. F1000Research, 5. doi: https://dx.doi.org/10.12688%2Ff1000research.7506.1.
Kazemi, M., Salehi, M., & Kheirollahi, M. (2016). Down syndrome: current status, challenges
and future perspectives. International journal of molecular and cellular medicine, 5(3),
125. Retrieved from:
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5125364/pdf/ijmcm-5-125.pdf.
Kendall, L. (2019). Supporting children with Down syndrome within mainstream education
settings: parental reflections. Education 3-13, 47(2), 135-147. doi:
https://doi.org/10.1080/03004279.2017.1412488.
Kim, H. I., Kim, S. W., Kim, J., Jeon, H. R., & Jung, D. W. (2017). Motor and cognitive
developmental profiles in children with Down syndrome. Annals of rehabilitation
medicine, 41(1), 97. doi: https://dx.doi.org/10.5535%2Farm.2017.41.1.97.
Lau, J. Y. C., Yi, H., & Ahmed, S. (2016). Decision‐making for non‐invasive prenatal testing for
Down syndrome: Hong Kong Chinese women's preferences for individual vs relational
autonomy. Clinical genetics, 89(5), 550-556. doi: https://doi.org/10.1111/cge.12743.
Löwy, I. (2018). Bringing genetics into the clinic: the evolution of genetic testing and
counselling. In Routledge Handbook of Genomics, Health and Society (pp. 39-46).
Routledge. Retrieved from:
https://www.taylorfrancis.com/books/e/9781315451688/chapters/10.4324/978131545169
5-6.

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Mersy, E., de Die-Smulders, C. E., Coumans, A. B., Smits, L. J., de Wert, G. M., Frints, S. G., &
Veltman, J. A. (2015). Advantages and disadvantages of different implementation
strategies of non-invasive prenatal testing in Down syndrome screening
programmes. Public health genomics, 18(5), 260-271. doi:
https://doi.org/10.1159/000435780.
Nelson Goff, B. S., Monk, J. K., Malone, J., Staats, N., Tanner, A., & Springer, N. P. (2016).
Comparing parents of children with Down syndrome at different life span stages. Journal
of Marriage and Family, 78(4), 1131-1148. doi: https://doi.org/10.1111/jomf.12312.
Santalahti, P., Petrogiannis, K., & Tymstra, T. (2017). 7 Women’s decision-making and
experiences of prenatal Down’s syndrome screening. Before Birth: Understanding
Prenatal Screening. Retrieved from: https://books.google.co.in/books?
hl=en&lr=&id=VQA7DwAAQBAJ&oi=fnd&pg=PT96&dq=prenatal+down+syndrome+
screening&ots=wrq7I5XLyW&sig=YkU1TSC-FzVCT6mGG-
zp3OsQ2Yk#v=onepage&q=prenatal%20down%20syndrome%20screening&f=false.
Santos, F. C. G. B., Croti, U. A., Marchi, C. H. D., Murakami, A. N., Brachine, J. D. P., Borim,
B. C., ... & Godoy, M. F. D. (2019). Surgical Treatment for Congenital Heart Defects in
Down Syndrome Patients. Brazilian Journal of Cardiovascular Surgery, 34(1), 1-7. doi:
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Silva, V., Campos, C., Sá, A., Cavadas, M., Pinto, J., Simões, P., ... & Barbosa‐Rocha, N.
(2017). Wii‐based exercise program to improve physical fitness, motor proficiency and
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Research, 61(8), 755-765. doi: https://doi.org/10.1111/jir.12384.

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Sukla, K. K., Jaiswal, S. K., Rai, A. K., Mishra, O. P., Gupta, V., Kumar, A., & Raman, R.
(2015). Role of folate-homocysteine pathway gene polymorphisms and nutritional
cofactors in Down syndrome: A triad study. Human Reproduction, 30(8), 1982-1993.
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Van Herwegen, J., Ashworth, M., & Palikara, O. (2018). Parental views on special educational
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& Strydom, A. (2015). A genetic cause of Alzheimer disease: mechanistic insights from
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https://www.nature.com/articles/nrn3983.

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Appendices
Appendix 1: Educational Plan (As designed by the Author)
For everyone:
 Provide brochures, handouts, documents, posters and pictorial information on Down
Syndrome
 Promote need for respect, acceptance and dignity for Down Syndrome
For Parents:
Educate on:
 Developmental milestone delays
 Provision of a safe, stimulating home environment
 Speech, language or audiovisual therapies
 Possible physiological complications
 Possible genetic interventions
For Teachers:
Educate on:
 Incorporating innovate speech and language educational courses
 Enhancement of sense of acceptance among other students in the classroom