EMERGING AREAS OF HUMAN HEALTH
Case Study – Cumulative: Part 4
You will be creating a case study in stages over four course topics. This assignment will add to your previous work in Topic 5. Use an example from your own personal practice, experience, or own personal/family (however, simulated cases are not acceptable for practice immersion hours and therefore not acceptable for this assignment). Examples might include a patient with Duchesne’s muscular dystrophy, Huntington’s disease, Down’s syndrome, sickle cell anemia, BRCA 1 or BRCA 2 mutations, or another genetic disorder that you or the organization you practice in may specialize in treating.
General Requirements:
Use the following information to ensure successful completion of the assignment:
- Doctoral learners are required to use APA style for their writing assignments.
- This assignment requires that at least three additional scholarly research sources related to this topic and at least one in-text citation for each source be included.
- You are required to submit this assignment to LopesWrite for similarity score and plagiarism.
Directions:
For this assignment (Conclusion of the Case Study), include Parts 1-3 of the Case Study in one document, combined with additional genetics information learned from the assigned readings from all course topics. This assignment is a cumulative combination of selected portions of Parts 1-3 and Part 4. Make sure you have incorporated any faculty feedback received from previous reports.
Parts 1-3: (ATTACHED).
Do not simply copy/paste entire case reports from Parts 1-3 (ATTACHED). Create a document including only the following areas from previous case reports:
- Describe the disease, its prevalence, its incidence, and general knowledge of the disease.
- Discuss the laboratory testing that can be done.
- Describe if chromosomal analysis is/was indicated and detail the chromosomal change that caused the disease if it is a chromosomal disorder.
- Describe the disorder in terms of its origin as either a single gene inheritance or a complex inheritance and considerations for practice and patient education.
- Describe the gene mutation of the disease, as well as whether it is acquired or inherited, and how the mutation occurs.
- Examine how genetics can influence policy issues.
- Discuss any nutritional influences for this disease.
- Process of nutritional assessment and counseling as it relates to health, prevention, screening, diagnostics, prognostics, selection of treatment, and monitoring of treatment effectiveness.
Part 4:
In addition, this cumulative case study must include the following:
- Discuss any ethical considerations for this disease.
- Compare how genetics can improve care and health outcomes while reducing cost to usual practices.
- Discuss the changes in approaches to care when new evidence warrants evaluation of other options for improving outcomes or decreasing adverse events.
- Create a plan for how you might educate colleagues or patients on this genetic disorderDOWN SYNDROME: A CASE STUDY- PART 1
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Down Syndrome: A Case Study: Part 1
DNP-810A Emerging Areas of Human Health
Marian Alli
Grand Canyon University
April 5, 2022.
Down Syndrome
Introduction
Down syndrome is a common genetic disease that affects the normal functioning of the bodily systems due to the addition of the complete or partial chromosome 21 copy. When this happens, children are born with this extra chromosome that eventually changes the development of their brain and body, and how they function. What happens is that the excess genetic material results in delays in the development of both mental and physical traits.
Incidences and Prevalence
Down syndrome affects each person differently. The effects of Down Syndrome can vary greatly, ranging from mild to severe intellectual and developmental abilities. While certain individuals find themselves healthy, others suffer from major health problems that include heart defects. Down syndrome has distinct effects on children and adults (Lanfranchi, 2019). Though not all people with Down syndrome disease share the same characteristics, they are some traits that are quite common among most patients. They include:
· Flattened face
· A child’s small head
· A thin neck
· Tongue protrusion
· Palpebral fissures
· A child’s ears that are strangely shaped or small
· Muscle tone deficiency
Down syndrome babies may have a hard time adjusting to their new environment. They are of ordinary size, although they tend to grow slowly and stay shorter than other children their age. Most children with Down syndrome have mild to moderate cognitive disabilities. This affects their overall mental capacity as well as their ability to synthesize short and long-term memories. You will even find that the phonological awareness and language development of children with Down Syndrome is delayed, and slower than other kids their age (Hussain, Moiz, Aqeel, & Zaidi, 2017).
When should you see a Doctor?
Down syndrome is commonly detected at or before delivery in children. It is highly recommended for pregnant women to talk to their doctors if they have any concerns about their pregnancies or their child’s growth and development.
Laboratory Tests Available
There are primarily two types of tests that can be administered to determine if an individual has Down syndrome. The first test considers prenatal care, where expectant mothers can or may be able to test or be tested during the early and mid-stages of their pregnancy. The other types of tests are diagnostic tests, that can be administered after an individual has reached maturity. While on an internship at a local healthcare center, I noticed that screening tests happen sequentially during the first and second trimesters.
Screening Tests
First off, it is prudent to argue that screening tests are very effective at telling whether a newborn will have Down syndrome. The parent can know from an early age, the condition of the child. The parent can take the necessary steps toward handling the disease. Nonetheless, screening tests are not 100% correct. Yet, there is no reason for pregnant mothers not to take the tests since the tests are harmless and there is no risk of miscarriage.
On the one hand, the first phase happens during the first trimester between 10 and 14 weeks of pregnancy. Blood samples from the mother are collected and tested to determine the amount of fluid that may be around the baby’s neck.
Meanwhile, the second phase happens during the second trimester between 15 and 20 weeks of pregnancy. A similar blood test is conducted, and the results are compared to those of the first test. The comparison informs experts on whether the fetus has Down syndrome or any other categorical genetic disorders.
Diagnostic Tests
3 primary types of diagnostic tests can be performed on either developing babies or adults to test for Down Syndrome:
· Amniocentesis
· Chorionic Villus Sampling (CVS)
· Ultrasound
FDA regulations and introduction of new pharmaceutical agents
Using its fast approval pathway, the FDA approved the use of aducanumab [trade name: Aduhelm] to treat people with Alzheimer’s disease on June 7, 2021. The FDA limited the indication on July 8, 2021, to match those who were enrolled in research studies, specifically those with a diagnosis of Mild Cognitive Impairment (MCI) or Mild AD dementia (Rosenbaum, 2017). Furthermore, the medicine, according to the information provided about it, “Aduhelm is an amyloid-beta-targeting antibody. The antibody binds to amyloid-beta clumps predominantly. This is the case because it targets an epitope that isn’t normally accessible in the amyloid-beta monomer. As a result of this interaction, Aduhelm may be able to lower the number of amyloid plaques in the brain, minimizing neurodegeneration and disease development.”
Despite the National Institute of Health’s acknowledgment of Down syndrome as a major risk factor for Alzheimer’s disease, no persons with Down syndrome (or any other intellectual handicap) were included in Biogen’s initial clinical studies. As a result, the topic of whether aducanumab can aid people with Down syndrome and other forms of intellectual disability has been raised. Questions have also been raised about the realities and logistics of the situation.
The Role of Money and Grants in Scientific Advances
In the United States, funding for scientific research has become more difficult to come by, particularly for discovery-based science, which necessitates the analysis of enormous data sets to detect patterns and correlations. New theories are created, and orthodoxy is debunked by this analysis, especially in the ‘omics’ era of science (Okagaki and Dean, 2016). Scientists have changed the types of experiments they propose as a result of the funding conflict. Proposals that are focused on fixing problems, such as novel targets to avoid pathogen infection, or that may probably be successful in the short term, are the most popular among grant panels. Although it’s fair that award committees want to make sure that the money spent on initiatives has immediate outcomes, the targeting of programs is a different story.
Role of Family in Healthcare Decisions
Through these roles, patients appreciate the value of family life in medical decision-making, and families actively promote patient autonomy. Nonmedical obligations related to family roles and relationships are as important as, if not more important than, medical loads. Family is a morally significant player in medical decision-making and should be treated as such.
References
Fortea, J., Vilaplana, E., Carmona-Iragui, M., Benejam, B., Videla, L., Barroeta, I., Fernández, S., Altuna, M., Pegueroles, J., Montal, V., Valldeneu, S., Giménez, S., González-Ortiz, S., Muñoz, L., Estellés, T., Illán-Gala, I., Belbin, O., Camacho, V., Wilson, L. R., . . . Lleó, A. (2020). Clinical and biomarker changes of Alzheimer’s disease in adults with down syndrome: A cross-sectional study. The Lancet (British Edition), 395(10242), 1988-1997. https://doi.org/ 10.1016/S0140-6736(20)30689-9
Hussain, S., Moiz, B., Aqeel, S., & Zaidi, N. (2017). Issues in reproductive health in females having inherited bleeding disorders in Pakistan. Haemophilia: The Official Journal of the World Federation of Hemophilia, 23(4), e367-e370. https://doi.org/ 10.1111/hae.13254
Lanfranchi, S. (2019). State of the art of research on down syndrome. Academic Press, an imprint of Elsevier.
Okagaki, L. H., & Dean, R. A. (2016). The influence of funding sources on the scientific method. Molecular Plant Pathology, 17(5), 651-653. https://doi.org/ 10.1111/mpp.12380
Rosenbaum, P. (2017). The yin and yang of clinical research. Developmental Medicine and Child Neurology, 59(12), 1208. https://doi.org/ 10.1111/dmcn.13553
Mayo Clinic. (2018). Down syndrome – Symptoms and causes. [online] Available at: https://www.mayoclinic.org/diseases-conditions/down-syndrome/symptoms-causes/syc-20355977 [Accessed 5 April 2022].
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- Discussion Questions (DQ)
Initial responses to the DQ should address all components of the questions asked, including a minimum of one scholarly source, and be at least 250 words. Successful responses are substantive (i.e., add something new to the discussion, engage others in the discussion, well-developed idea) and include at least one scholarly source. One or two-sentence responses, simple statements of agreement or “good post,” and responses that are off-topic will not count as substantive. Substantive responses should be at least 150 words. I encourage you to incorporate the readings from the week (as applicable) into your responses.
- Weekly Participation
Your initial responses to the mandatory DQ do not count toward participation and are graded separately. In addition to the DQ responses, you must post at least one reply to peers (or me) on three separate days, for a total of three replies. Participation posts do not require a scholarly source/citation (unless you cite someone else’s work). Part of your weekly participation includes viewing the weekly announcement and attesting to watching it in the comments. These announcements are made to ensure you understand everything that is due during the week.
- APA Format and Writing Quality
Familiarize yourself with the APA format and practice using it correctly. It is used for most writing assignments for your degree. Visit the Writing Center in the Student Success Center, under the Resources tab in Loud-cloud for APA paper templates, citation examples, tips, etc. Points will be deducted for poor use of APA format or absence of APA format (if required). Cite all sources of information! When in doubt, cite the source. Paraphrasing also requires a citation. I highly recommend using the APA Publication Manual, 6th edition.
- Use of Direct Quotes
I discourage over-utilization of direct quotes in DQs and assignments at the Master’s level and deduct points accordingly. As Masters’ level students, it is important that you be able to critically analyze and interpret information from journal articles and other resources. Simply restating someone else’s words does not demonstrate an understanding of the content or critical analysis of the content. It is best to paraphrase content and cite your source.
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