DNP-810 Case Report: Down Syndrome, Policy, and Treatment

This case report provides a comprehensive overview of Down syndrome, a genetic disorder characterized by an extra copy of chromosome 21, leading to intellectual disability and various health challenges. The report explores the influence of genetics on policy, highlighting legislation like the Genetic Information Nondiscrimination Act (GINA) and Chloe's Law, which address discrimination and prenatal care. It delves into nutritional risk factors, such as maternal age and deficiencies in vitamins like B1 and folate, which can contribute to the condition. The report emphasizes the importance of nutritional assessment and counseling, and the need for a balanced diet to manage associated health issues like obesity and gastrointestinal problems. It also covers prevalence rates, diagnostic methods (including screening and testing), treatment approaches involving specialists, and the improved prognosis, including increased life expectancy, for individuals with Down syndrome. The report concludes by emphasizing the importance of early intervention, comprehensive care, and the role of government and societal support in improving the quality of life for those affected by Down syndrome.

Running Head: CASE REPORT- DOWN SYNDROME
CASE REPORT- DOWN SYNDROME
Name of the student:
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1CASE REPORT- DOWN SYNDROME
Executive summary
Down syndrome is a chromosomal disease caused by abnormal cell division. DS patient are
usually mentally retarded with different facial appearance, intellectual disability and
nutritional disorder. It cannot be cured but if proper treatment done, severity of the disease
decreases. The purpose of this report was to explore the policy issues affected by genetic
disease, nutritional risk factor, diagnosis, treatment, prevalence rate and prognosis of the
syndrome. The finding of the report suggests that age of the mother and nutritional deficiency
are responsible for the prevalence of Down syndrome. It is also evident from the report that
person suffering from Down syndrome are victim of discrimination, and to stop such events
various laws were enforced by government.

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Table of Contents
Introduction................................................................................................................................3
Policy influenced by genetic disease......................................................................................3
Nutritional risk factor of Down syndrome.............................................................................4
Nutritional assessment and counselling.................................................................................5
Prevalence rates, testing, treatment, and prognosis................................................................5
Conclusion..............................................................................................................................7
References..................................................................................................................................8

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Introduction
Down syndrome is a chromosomal disease initiated by existence of partial or full
extra copy of chromosome 21. There are 3 forms of down syndrome, mosaic down syndrome,
trisomy 21 and translocation down syndrome, but among them trisomy 21 is prevalent. It
happens because of chromosome impairment known as non-disjunction. At the time of cell
division instead of two, there are three replicas of genes associated on chromosome 21.
Children suffering from this syndrome are mentally retarded with delayed development. It is
inherited from one of the parents and it is an incurable disease (Phillips, Conners, Merrill &
Klinger, 2014).
Thesis statement- To explore the policy issues, nutritional influences, diagnosis, treatment
and prognosis of case report that involves the Down syndrome patient.
Policy influenced by genetic disease
Genetic disease is common and requires proper caring and consideration. Down
syndrome which is genetic disorder is very common and instead of additional care they were
bullied and discriminated in every field whether in school, colleges and workplace or in case
of health insurances. Hence to stop such practice, federal legislation is passed by United
States government. Federal legislation has two parts, Executive Order Protecting Federal
Employees and Genetic Information Nondiscrimination Act (Green, Lautenbach & McGuire,
2015). Among the two, Executive Order Protecting Federal Employees enforced on February
8, 2000 by president of United States, Bill Clinton. It prohibits the use of patient’s genetic
information by federal agencies and organization to stop discrimination. Another law,
Genetic Information Non-discrimination Act came into action in 2008, it is divided under two
titles. People suffering from Down syndrome are usually discriminated by health organisation
for health insurance which was disallowed by Genetic Information Nondiscrimination Act

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(GINA) Title I. Title II of the GINA act prohibits workplace discrimination of such patients.
Another law Pennsylvania law also known as Chloe’s law, revision of Down Syndrome
Prenatal Education Act came into action in 2014. It was enacted to stop the abortion rate of
foetus diagnosed with Down syndrome. Other laws to prevent such unethical practice are, the
Prenatally and Postnatally Diagnosed Conditions Awareness Act and Down Syndrome
Information Act (Parkman et al., 2015).
Nutritional risk factor of Down syndrome
Down syndrome is a genetic syndrome, where the patients suffers from some
nutritional illness along with mental retardation, characteristics facial looks, intellectual
disability and weak muscle tone. It is caused by uncharacteristic cell division which results in
an additional copy of genetic substance from chromosome 21 (Phillips, Conners, Merrill &
Klinger, 2014). Actual cause of this chromosome abnormality is not yet known and the
research is under progress. By observing the patient suffering from Down syndrome, it is
suggested that gluten-gliadin intolerance or sensitivity, food allergies can cause coeliac
disease and along with that malabsorption for mineral, vitamins, and severe autoimmune
disease also occur. This coeliac disease and gluten- gliadin intolerance or sensitivity are
supposed to cause the chromosome abnormality giving rise to trisomy 21. Hence expected
mothers are suggested to take adequate amount of vitamin and mineral, especially vitamin B1
in the first trimester to prevent conception of Down syndrome child or if conceived it can
help in decreasing the heart defect in down syndrome child (Vriezinga, Schweizer, Koning &
Mearin, 2015). Methylenetetrahydrofolate reductase which is a primary enzyme of folate
metabolic pathway and is encoded by Methylenetetrahydrofolate reductase gene. According
to a meta-analysis conducted by Rai et al. (2014), polymorphism of maternal MTHFR C677T
can cause Down syndrome. Mutation of maternal MTHFR C677T occurs due to deficiency
of MTHFR due to increased level of homocystiene in blood. To prevent the MTHFR

5CASE REPORT- DOWN SYNDROME
deficiency, homocysteine level of blood should be decreased by taking vitamin supplements,
especially vitamin B and folic acid intake should also be increased. Down syndrome mainly
occur in mother of older age and hence, age serves as a risk factor for down syndrome but
apart from that, some nutritional factors such as cobalamin and folate deficiency are there
which are also responsible for the non-disjunction of chromosome 21 (Coppedè, 2015).
Nutritional assessment and counselling
Nutritional assessment and counselling is a process in which a dietician works with
the patient to change his/her diet routine for quick recovery of the patient. Nutritional
assessment of patient suffering from Down syndrome is vital, as the DS patient usually
suffers from nutritional disorder, food allergies, food intolerance, mal absorption, vitamin,
folate and zinc deficiency. According to Mazurek and Wyka (2015), vitamin deficiency and
increased level of homocysteine can lead to intellectual deficit in DS patient. Zinc deficiency
can cause short stature of the patient and if excessive supplement supplied it can lead to an
elevated level of appetite and thyroid function complication. Down syndrome in a patient
results in other severe illness such as diabetes, heart disease, coeliac disease, constipation and
gastrointestinal problems. To prevent constipation and gastrointestinal problems in DS
patient, uptake of fibre-rich foods and food and fruits with high water content are suggested
by the doctor (Alexander et al., 2016). DS patient usually suffers from obesity which can be
prevented if regular exercise and healthy diet such as avoiding high fat and high sugar
content food are incorporated in to regular regime (Basil et al., 2016). In United States, 1 in
every 700 birth are usually affected with Down syndrome which need proper nutritional care.
Nutrition if supplied to DS patient in appropriate amount, it is seen that the treatment is
effective and their health status can be improved (Zemel, et al., 2015).

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Prevalence rates, testing, treatment, and prognosis
In United States birth prevalence rate has been increased by 30% from 1979 and
2003. Older mothers are more expected to give birth to a new born with Down syndrome
(CDC, 2019).
Figure 1- prevalence rate of Down syndrome in United States
Source- (CDC, 2019)
Down syndrome are usually found in mother of old age, but it is advisable for all
pregnant women to undergo diagnostic once. Screening is done during the first and second
trimester of pregnancy to evaluate the risk of having Down syndrome to the new born. If the
result are positive then different tests are performed to get more accurate result. Among the
various diagnostic process, blood test followed by nuchal translucency test is done during the
first trimester of the pregnancy (Larion et al., 2014). Another diagnostic test are Chorionic
villus sampling (done within 10-13 weeks of pregnancy) and Amniocentesis (after 15 weeks
of pregnancy) (Klages et al., 2017). Down syndrome is not curable but if taken care of,
severity of the syndrome decreases. Different specialist are required for a proper care and
treatment such as general physician to monitor growth and developmental, speech therapist to

7CASE REPORT- DOWN SYNDROME
improve their communication skill and dietician to monitor their diet. Apart from that,
various specialists such as cardiologist, geneticist, endocrinologist, eye and hearing specialist
(J Strupp et al., 2016). Prognosis of the syndrome depends upon the severity of the disease,
the life expectancy rate of DS patient increased between 1960 and 2007. In 1960 the life
expectancy of a DS patient is 10 years whereas in 2007 it is increased to 47 years (CDC,
2019).
Conclusion
From the above case report it can be concluded that, Down syndrome is a genetic
illness in which the patients are mentally retarded with intellectual disability and nutritional
disease. People suffering from these are usually discriminated. To stop such unethical events
in work place and health organizations certain laws were enacted by government such as
Genetic Information Nondiscrimination Act (GINA) title I and title II. There are certain
nutritional risk factor associated which are responsible for Down syndrome such as
deficiency of vitamin and folate. The disease is incurable but if proper care and treatment
such as suitable diet and medical care is given, severity of the disease can be decreased and
life expectancy of the DS patient can be increased.

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References
Alexander, M., Petri, H., Ding, Y., Wandel, C., Khwaja, O., & Foskett, N. (2016). Morbidity
and medication in a large population of individuals with Down syndrome compared to
the general population. Developmental Medicine & Child Neurology, 58(3), 246-254.
https://doi.org/10.1111/dmcn.12868
Basil, J. S., Santoro, S. L., Martin, L. J., Healy, K. W., Chini, B. A., & Saal, H. M. (2016).
Retrospective study of obesity in children with Down syndrome. The Journal of
pediatrics, 173, 143-148. https://doi.org/10.1016/j.jpeds.2016.02.046
CDC. (2019). Data and Statistics on Down Syndrome. Retrieved from
https://www.cdc.gov/ncbddd/birthdefects/downsyndrome/data.html
Coppedè, F. (2015). The genetics of folate metabolism and maternal risk of birth of a child
with Down syndrome and associated congenital heart defects. Frontiers in genetics, 6,
223. https://doi.org/10.3389/fgene.2015.00223
Green, R. C., Lautenbach, D., & McGuire, A. L. (2015). GINA, genetic discrimination, and
genomic medicine. New England Journal of Medicine, 372(5), 397-399. DOI:
10.1056/NEJMp1404776
J Strupp, B., E Powers, B., Velazquez, R., A Ash, J., M Kelley, C., J Alldred, M., ... & D
Ginsberg, S. (2016). Maternal choline supplementation: a potential prenatal treatment
for Down syndrome and Alzheimer’s disease. Current Alzheimer Research, 13(1), 97-
106. Retrieved from
https://www.ingentaconnect.com/content/ben/car/2016/00000013/00000001/
art00010#Refs

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Klages, K., Kundu, S., Erlenwein, J., Elsaesser, M., Hillemanns, P., Scharf, A., &
Staboulidou, I. (2017). Maternal anxiety and its correlation with pain experience
during chorion villus sampling and amniocentesis. Journal of pain research, 10, 591.
doi: 10.2147/JPR.S128300
Larion, S., Warsof, S. L., Romary, L., Mlynarczyk, M., Peleg, D., & Abuhamad, A. Z.
(2014). Association of combined first-trimester screen and noninvasive prenatal
testing on diagnostic procedures. Obstetrics & Gynecology, 123(6), 1303-1310. doi:
10.1097/AOG.0000000000000275
Mazurek, D., & Wyka, J. (2015). Down syndrome-genetic and nutritional aspects of
accompanying disorders. Roczniki Państwowego Zakładu Higieny, 66(3). Retrieved
from http://yadda.icm.edu.pl/yadda/element/bwmeta1.element.agro-36452698-6ea1-
49d4-912a-a8a2b94e5013
Parkman, A. A., Foland, J., Anderson, B., Duquette, D., Sobotka, H., Lynn, M., ... & Cox, S.
L. (2015). Public awareness of genetic nondiscrimination laws in four states and
perceived importance of life insurance protections. Journal of genetic counseling,
24(3), 512-521. https://doi.org/10.1007/s10897-014-9771-y
Phillips, B. A., Conners, F. A., Merrill, E., & Klinger, M. R. (2014). Rule-based category
learning in Down syndrome. American journal on intellectual and developmental
disabilities, 119(3), 220-234. https://doi.org/10.1352/1944-7558-119.3.220
Rai, V., Yadav, U., Kumar, P., Yadav, S. K., & Mishra, O. P. (2014). Maternal
methylenetetrahydrofolate reductase C677T polymorphism and down syndrome risk:
a meta-analysis from 34 studies. PLoS One, 9(9), e108552. 
https://doi.org/10.1371/journal.pone.0108552

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Vriezinga, S. L., Schweizer, J. J., Koning, F., & Mearin, M. L. (2015). Coeliac disease and
gluten-related disorders in childhood. Nature Reviews Gastroenterology &
Hepatology, 12(9), 527. https://doi.org/10.1038/nrgastro.2015.98
Zemel, B. S., Pipan, M., Stallings, V. A., Hall, W., Schadt, K., Freedman, D. S., & Thorpe, P.
(2015). Growth charts for children with Down syndrome in the United States.
Pediatrics, 136(5), e1204-e1211. Retrieved from
http://pediatrics.aappublications.org/content/136/5/e1204.abstract