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.


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:

  1. Describe the disease, its prevalence, its incidence, and general knowledge of the disease.
  2. Discuss the laboratory testing that can be done.
  3. Describe if chromosomal analysis is/was indicated and detail the chromosomal change that caused the disease if it is a chromosomal disorder.
  4. 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.
  5. Describe the gene mutation of the disease, as well as whether it is acquired or inherited, and how the mutation occurs.
  6. Examine how genetics can influence policy issues.
  7. Discuss any nutritional influences for this disease.
  8. 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:

  1. Discuss any ethical considerations for this disease.
  2. Compare how genetics can improve care and health outcomes while reducing cost to usual practices.
  3. Discuss the changes in approaches to care when new evidence warrants evaluation of other options for improving outcomes or decreasing adverse events.
  4. Create a plan for how you might educate colleagues or patients on this genetic disorder.




Down Syndrome: A Case Study: Part 1

DNP-810A Emerging Areas of Human Health

Marian Alli

Grand Canyon University

April 5, 2022.

Down Syndrome


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




Down Syndrome- A Case Study: Part II

DNP-810A Emerging Areas of Human Health

Marian Alli

Grand Canyon University

April 7, 2022.

Down Syndrome- A Case Study: Part II


Genetic disorders can be a handful if not properly handled. During my internship at my local healthcare facility, I was more intrigued by the lack of adequate Family Health History (FHH) communication networks as it is a strong predictor of the risks associated with the disease. It is also useful for guiding preventive care. This case study aims to illuminate the importance of FHH and FHx tools in guiding the treatment of Down Syndrome. I specifically focus on the prevalence of Down Syndrome within society and the rudimentary treatment processes that are used to treat the disease.

Chromosomal Analysis

To effectively establish the prevalence and incidences of acute and genetic disorders, most healthcare centers allocate a laboratory for running chromosomal analysis of incoming patients. One of the most common diagnostic tests is the karyotype genetic test. In essence, the karyotype test analyzes the size, shape, and number of chromosomes in a patient’s genetic makeup (“Down syndrome- Symptoms and causes”, 2022).

A normal person typically has 46 chromosomes divided into 23 pairs. Further, one of each chromosome comes from either the father or mother. The karyotype test figures out whether you have the normal number of chromosomes as well as if the chromosomes have the appropriate sizes and shapes. If the chromosomal analysis indicates any other readings from the normal spectrum, then the patient suffers from a genetic disease.

Chromosomal analysis is not only used to establish whether a patient suffers from a genetic disease, but also the specific genetic disease that the patient is suffering from. The karyotype test is used to identify any of the following genetic diseases:

· Down Syndrome

· Edward’s Syndrome

· Turner Syndrome

· Amniocentesis

The karyotype test is mostly used to test for Down Syndrome after the symptoms are identified. What’s more, the chromosomal test can be used to check for Down syndrome in unborn babies in pregnant mothers, young babies, stillborn babies as well as young adults (“Down syndrome- Symptoms and causes”, 2022).

Origin of Down Syndrome

The Down Syndrome disease is a genetic disorder that is caused by the addition of an extra full chromosome or the partial formation of chromosome 21. Partial formation of the chromosome or the addition of another chromosome affects the developmental and physical changes of a person. Even so, the level of severity v




Huntington’s Disease- A Case Study: Part III

DNP-810A Emerging Areas of Human Health

Marian Alli

Grand Canyon University

April 20, 2022.

Huntington’s Disease- A Case Study: Part III

How Genetics can Influence Policy Issues

There is a strong correlation between genetics and public policy issues. Because of the rapid advancements in genetic testing technology, new healthcare policy challenges have arisen, such as genetic confidentiality, gene patenting, public awareness, and uniformity (Brown et al., 2018). Suitable policy to deal with these concerns has been lacking for the previous couple of years. For instance, different governments have approached the problem of genetic confidentiality widely. Because of the absence of testing regulations and evaluation, the use of presently available genetic tests is likewise fraught with difficulty. Consequently, clinical evaluation may not benefit from every test performed. As a result, these policy areas should be strengthened by policy interventions. In order to better promote health policy issues and ward off sickness, it is critical to gain a better understanding of hereditary variables and disorders.

Furthermore, genetics calls for the involvement of the public in discussions about genetic testing, interpretation, and importance. Governments must make  sure that as whole, the public is aware of the various genetics-related challenges. The problems include federal funding for genetic research and the requirement for or absence of clinician participation in direct-to-client genetic testing. As a result, public sentiment plays a vital role in determining the policies that should be followed while performing genetic testing (Kiechl et al., 2018). Clinical research and relationships with patients are also influenced as a result, in addition to political choices. As a result of this knowledge, genetics impacts the implementation of policies that protect the interests of different stakeholders in the societal structure. When it comes to clinical, laboratories, and in vitro genetic tests, the Genetic Information Nondiscrimination Act (GINA) was enacted to ensure tight control.

Nutritional Influences for the Cause of Huntington’s Disease

Every individual can profit from excellent nutrition and dietary behavior, regardless of their age or gender. Good diet has shown to be a crucial aspect of maintaining health and functional ability in patients with Huntington’s disease. The cause of the huntington’s disease is through a mutated form of the Huntingtin gene (HTT) known as having an enlarged CAG repeat. Urea cycle deficits have been linked to the HTT gene in the liver. Enzymes known as argininosuccin