Dnp-810a emerging areas of human health

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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 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.


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.

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.

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.

Rosenbaum, P. (2017). The yin and yang of clinical research. Developmental Medicine and Child Neurology, 59(12), 1208.

Mayo Clinic. (2018). Down syndrome – Symptoms and causes. [online] Available at: [Accessed 5 April 2022].




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 varies with each individual. What’s evident in the fact that Down syndrome results in a lifelong intellectual disability or delays in the development of certain bodily systems.

Not much is known about the origin of Down Syndrome. While most relevant research indicates that the disease can be inherited, other research sources also reveal that one can just get it through the genetic disorder. The studies indicate that most of the time, Down syndrome isn’t inherited. The only notable genetic inheritance is prevalent in the translocation of down syndrome. It can easily be passed from the parent to the child. Nonetheless, there are minimal cases where Mosaic Down Syndrome and Trisomy 21 is passed down from the parent to the child. Interestingly, Down syndrome follows a complex inheritance as there is not enough data to validate this connection. The lack of information on the subject is due to the lack of a valid Family Health History (FHH) for an appropriate project study sample. In any case, available research indicates that even translocation of down syndrome is only present in 3 to 4 percent of individuals with down syndrome (Goergen, Ashida, Skapinsky, de Heer, Wilkinson, & Koehly, 2016).

Most local healthcare centers do not have enough data to establish an identification protocol for patients whose children are prone to down syndrome. Mostly, sociocultural factors have had a huge impact on this premise. It is prudent to argue that most individuals are reluctant to share familial information regarding their health. You will also find that the only available data on familial networks exists primarily in clinical institutions that have had longer relationships with familial generational patients.

Despite the introduction of FHx tools trying to fix or improve scientific research on prevalent genetic diseases, the ground remains non-receptive (Canary, Elrick, Pokharel, Clayton, Champine, Sukovic, Jung, & Kaphingst, 2019). Most of the individuals in society prefer not to share certain personal health information as they do not trust the security of this information. While the technological age has greatly advanced treatment procedures, there remains a great mistrust of the safety of digital data.

We would recommend that healthcare institutions should create outreach programs aimed at sensitizing individuals on the importance of using data to improve and solve specific problems in healthcare. In specific, the outreach programs should declare how this information can be used to create a basis for solving rare genetic diseases such as Down Syndrome. Furthermore, the ministry of health in collaboration with healthcare institutions should emphasize the benefits of using FHx tools to improve FHH communication networks.

Gene Mutation Analysis

All in all, current data on Down Syndrome has yielded surprising results. You can easily check whether your unborn child or your young child has Down Syndrome. For unborn babies, pregnant women are encouraged to take the preliminary screening tests during the first and second trimesters of pregnancy. It is especially the case if there is a confirmed case of familial history with the disease. Alternatively, Down Syndrome can be tested in young children if they exhibit the relevant symptoms associated with the prevalence of the genetic disease. Early treatment protocols can be established to control the disease if it is noticed in the early stages of development.

In addition, the karyotype test is useful in determining whether, and the type of down syndrome a patient is suffering from. Even though there is no established cure for Down Syndrome, data from established FHH communication networks is essential in establishing risk factors for the genetic disease (Welch, Wiley, Pflieger, Achiangia, Baker, Hughes-Halbert, Morrison, Schiffman, & Doerr, 2018). Here are some risk factors that you should look out for today:

· Advanced motherhood age

· Genetic carriers for translocation of Down Syndrome

· Bearing one child with Down Syndrome


It is imperative to improve disease risk predictions and tailor preventive care to patients’ risk factors, making it the primary goal. Family health history is indeed the most appropriate approach for immediate gathering of genetic and environmental data that may be relevant to the patient. With the advances in technologies and reduced costs of sequences, comprehensive sequencing tests is required to perform a risk assessment (Haga & Orlando, 2020). This helps to provide the optimal early interventions for patients and families with multigenerational family history of the Down Syndrome disease to provide them with the knowledge of the most current information on preventative care.


Canary, H. E., Elrick, A., Pokharel, M., Clayton, M., Champine, M., Sukovic, M., Hong, S. J., & Kaphingst, K. A. (2019). Family health history tools as communication resources: Perspectives from Caucasian, Hispanic, and pacific islander families. Journal of Family Communication, 19(2), 126-143.

Goergen, A. F., Ashida, S., Skapinsky, K., de Heer, H. D., Wilkinson, A. V., & Koehly, L. M. (2016). What you don’t know. Public Health Genomics, 19(2), 93-101.

Goergen, A. F., Ashida, S., Skapinsky, K., Heer, H. D., Wilkinson, A. V., & Koehly, L. M. (2016). What you don’t know…: Improving family health history knowledge among multigenerational Mexican origin families

Haga, S. B., & Orlando, L. A. (2020). The enduring importance of family health history in the era of genomic medicine and risk assessment. Personalized Medicine, 17(3), 229-239.

Mayo Clinic. (2022). Down syndrome – Symptoms, and Causes. Retrieved 5 April 2022, from

Welch, B. M., Wiley, K., Pflieger, L., Achiangia, R., Baker, K., Hughes-Halbert, C., Morrison, H., Schiffman, J., & Doerr, M. (2018). Review and comparison of electronic patient-facing family health history tools. Journal of Genetic Counseling, 27(2), 381-391.




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 argininosuccinic acid synthase and acid lyase cause the urea cycles to be disrupted. Diet changes can affect the functioning of these enzymes. In Huntington’s disease, for instance, dietary protein limitation has been shown to normalize citrulline and ammonia levels in the blood. As a result, the HTT genes in the liver are minimally aggregated, and the rotarod action is improved together with raised striatal brain-derived neurotropic factor (BDNF) (Sagar, 2019). As a result, the intensity of the condition is lessened due to a decrease in the prevalence of urea cycle deficits.

Notwithstanding the proof to the contrary, various dietary treatments are linked to the occurrence of Huntington’s illness in asymptomatic patients, notwithstanding the favorable impact of protein restriction. Dairy intake, for instance, has been linked to a twofold increase in the disease’s likelihood. The increased phenoconversion is to blame. The high incidence of phenoconversion in people who eat a Mediterranean diet has also been associated with a higher risk of Huntington’s disease (Khan et al., 2020). Because of this, patients with the condition should seek help and be provided with nutritional help, examination, and counseling.

Process of Nutritional Assessment and Counseling

Individuals with Huntington’s disease need to eat a nutritious diet (Urrutia, 2019). It is common for patients to be underweight or obese based on their age or height. Because they are physically active but underweight, they are required to consume more calories in their meals than they normally do. As a result, it’s critical that these individuals’ nutritional requirements be monitored frequently. Multiple factors of nutrition should be considered while doing an assessment. Therefore, these individuals should incorporate their food routine, which can be affected by the illness. The intensity of dysphagia should also be assessed using applicable measures, such as the Swallowing Disruption Questionnaire. When the patient is drinking liquid meals, it is important to keep an eye out for any indications of food aspiration.

Individuals with Huntington’s disease can benefit greatly from nutritional counseling, which is an important part of their care. Nutritional education should be provided to all patients to help prevent malnutrition and its related morbidity. Food that provides at minimum 25 to 35’s energy output is advised and should be recommended to patients. There should be no deviation from a healthy person’s carbohydrate and fat intake ratio. Patients should additionally eat 0.8 to 1.5 grams of protein per kilogram of body weight per day from animal sources (Sagar, 2019). Dietary requirements, meanwhile, vary depending on the patient’s phase of sickness.

Prevalence Rates, Testing, Treatment, and Prognosis

No one knows how often Huntington’s disease caused by nutritional factors is. Huntington’s disease does not appear to be common in any one group of people. It affects people of all ethnicities and ethnic backgrounds, as well as both sexes. In a demographic of about 100,000 persons, it affects, on average, 7.5 individuals. The disease affects around 190,000 individuals worldwide, and the most common method of diagnosing someone with the illness is through genetic testing (Urrutia, 2019), while the frequency of CAG repeat strains in the illness genes can be counted using a direct genetic test. The appearance 36 CAG repeats in the gene confirm the diagnosis. When an individual is diagnosed with Huntington’s disease, medication is mostly determined by the signs and symptoms they bring to the medical facility with (Tabrizi, 2019). Neuropletics and tetrabenazine are used to treat dyskinesia, akathisia, and stiffness. Physiotherapy is used to keep joints moving in people with dystonia. Treatment for myoclonus involves the use of benzodiazepines, such as clonazepam and others. Bruxism is corrected with injections of botulin toxin into the masseter muscle, whereas balance abnormalities are remedied with physiotherapy therapies. Disease progression is a hallmark of Huntington’s. The deterioration is a result of the illness inherent tendency to advance. Those who are diagnosed with the condition have a life expectancy ranging from 15 to 30 years.


Brown, H. M., Rollo, M. E., de Vlieger, N. M., Collins, C. E., & Bucher, T. (2018). Influence of the nutrition and health information presented on food labels on portion size consumed: A systematic review.

Kiechl, S., Pechlaner, R., Willeit, P., Notdurfter, M., Paulweber, B., Willeit, K., Werner, P., Ruckenstuhl, C., Iglseder, B., Weger, S., Mairhofer, B., Gartner, M., Kedenko, L., Chmelikova, M., Stekovic, S., Stuppner, H., Oberhollenzer, F., Kroemer, G., Mayr, M., . . . Willeit, J. (2018). Higher spermidine intake is linked to lower mortality: A prospective population-based study. The American Journal of Clinical Nutrition, 108(2), 371-380.

Sagar, D. P. (2019). Huntington’s disease like syndrome: A rare genetic dilemma for clinicians. Journal of Medical Science and Clinical Research, 7(10)

Study findings on diet and nutrition are outlined in reports from Kennedy Krieger Institute (environmental influences on health and development: Nutrition, substance exposure, and adverse childhood experiences). (2019, Feb 8,). Health & Medicine Week

Tabrizi, S. (2019). Treating Huntington’s disease. Journal of the Neurological Sciences, 405, 3.

Urrutia, N. (2019). Adult-onset Huntington disease: An update. Nursing (Jenkintown, Pa.), 49(7), 36-43.

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