DNP 810 Case Study Part 1: Huntington’s Disease
Grand Canyon University DNP 810 Case Study Part 1: Huntington’s Disease– Step-By-Step Guide
This guide will demonstrate how to complete the Grand Canyon University DNP 810 Case Study Part 1: Huntington’s Disease assignment based on general principles of academic writing. Here, we will show you the A, B, Cs of completing an academic paper, irrespective of the instructions. After guiding you through what to do, the guide will leave one or two sample essays at the end to highlight the various sections discussed below.
How to Research and Prepare for DNP 810 Case Study Part 1: Huntington’s Disease
Whether one passes or fails an academic assignment such as the Grand Canyon University NUR 550 Benchmark – Evidence-Based Practice Project: Literature Review depends on the preparation done beforehand. The first thing to do once you receive an assignment is to quickly skim through the requirements. Once that is done, start going through the instructions one by one to clearly understand what the instructor wants. The most important thing here is to understand the required format—whether it is APA, MLA, Chicago, etc.
After understanding the requirements of the paper, the next phase is to gather relevant materials. The first place to start the research process is the weekly resources. Go through the resources provided in the instructions to determine which ones fit the assignment. After reviewing the provided resources, use the university library to search for additional resources. After gathering sufficient and necessary resources, you are now ready to start drafting your paper.
How to Write the Introduction for DNP 810 Case Study Part 1: Huntington’s Disease
The introduction for the Grand Canyon University DNP 810 Case Study Part 1: Huntington’s Disease is where you tell the instructor what your paper will encompass. In three to four statements, highlight the important points that will form the basis of your paper. Here, you can include statistics to show the importance of the topic you will be discussing. At the end of the introduction, write a clear purpose statement outlining what exactly will be contained in the paper. This statement will start with “The purpose of this paper…” and then proceed to outline the various sections of the instructions.
Need a high-quality paper urgently?
We can deliver within hours.
How to Write the Body for DNP 810 Case Study Part 1: Huntington’s Disease
After the introduction, move into the main part of the DNP 810 Case Study Part 1: Huntington’s Disease assignment, which is the body. Given that the paper you will be writing is not experimental, the way you organize the headings and subheadings of your paper is critically important. In some cases, you might have to use more subheadings to properly organize the assignment. The organization will depend on the rubric provided. Carefully examine the rubric, as it will contain all the detailed requirements of the assignment. Sometimes, the rubric will have information that the normal instructions lack.
Another important factor to consider at this point is how to do citations. In-text citations are fundamental as they support the arguments and points you make in the paper. At this point, the resources gathered at the beginning will come in handy. Integrating the ideas of the authors with your own will ensure that you produce a comprehensive paper. Also, follow the given citation format. In most cases, APA 7 is the preferred format for nursing assignments.
How to Write the Conclusion for DNP 810 Case Study Part 1: Huntington’s Disease
After completing the main sections, write the conclusion of your paper. The conclusion is a summary of the main points you made in your paper. However, you need to rewrite the points and not simply copy and paste them. By restating the points from each subheading, you will provide a nuanced overview of the assignment to the reader.
How to Format the References List for DNP 810 Case Study Part 1: Huntington’s Disease
The very last part of your paper involves listing the sources used in your paper. These sources should be listed in alphabetical order and double-spaced. Additionally, use a hanging indent for each source that appears in this list. Lastly, only the sources cited within the body of the paper should appear here.
Stuck? Let Us Help You
Completing assignments can sometimes be overwhelming, especially with the multitude of academic and personal responsibilities you may have. If you find yourself stuck or unsure at any point in the process, don’t hesitate to reach out for professional assistance. Our assignment writing services are designed to help you achieve your academic goals with ease.
Our team of experienced writers is well-versed in academic writing and familiar with the specific requirements of the DNP 810 Case Study Part 1: Huntington’s Disease assignment. We can provide you with personalized support, ensuring your assignment is well-researched, properly formatted, and thoroughly edited. Get a feel of the quality we guarantee – ORDER NOW.
Case Study Part 1: Huntington’s Disease
Huntington’s disease is a form of genetic brain condition that is extremely rare and progressive. It is defined by the gradual degeneration of nerve cells in the brain, which ultimately leads to emotional problems, cognitive loss, and movement that is not under the person’s control (Kim et al., 2020). There is no specific age at which symptoms of Huntington’s disease first appear; nevertheless, the vast majority of cases are documented in people between the ages of 30 and 40. If a person exhibits symptoms of Huntington’s disease before the age of 20, however, the condition is referred to as juvenile Huntington’s disease. A quick worsening of symptoms is connected with an early onset of the disease. The Food and Drug Administration has given its blessing to a number of different drugs for the treatment of the symptoms of Huntington’s disease. However, the treatments that are currently accessible have not been successful in halting the related loss in mental and physical health. The objective of this paper is to provide a full overview of Huntington’s disease, beginning with its prevalence and diagnosis and continuing on to novel treatment options and the role that scientific evidence plays in the promotion of the disorder’s care.
Huntington’s disease
Mutations in the HTT gene, which involve a CAG trinucleotide repeat DNA sequence, are the root cause of the extremely rare brain condition known as Huntington’s disease. Children who are born to parents who are affected with Huntington’s disease have an increased risk of developing the disorder themselves. Studies show that children who are born to parents who have Huntington’s disease have a one in two chance of having the disorder themselves and can pass it on to their own children. This risk increases to one in three if both parents have the disease. According to the research conducted by Long et al. (2018), the prevalence of Huntington’s disease in Europe ranges from three to seven per one hundred thousand people. On the other hand, the occurrence of the condition is far less common in some cultures, such as those of Chinese, Japanese, and African heritage.
Juvenile-onset Huntington’s disease and adult-onset Huntington’s disease are the two basic subtypes of the ailment. It is unusual for juvenile Huntington’s disease to manifest in either infancy or adolescence, but when it does, it can be fatal. It has been connected to problems in the social, mental, and emotional domains. Patients suffering from this condition will have symptoms such as drooling, slurred speech, rigidity, frequent falls, clumsiness, and delayed mobility. In most cases, as their academic performance gets worse, they also experience a decline in their ability to reason.
According to Aziz et al. (2018)’s findings, the incidence of seizure disorders in children diagnosed with juvenile Huntington’s disease ranges from 30 to 50 percent. The symptoms of this condition worsen far more quickly than those of adult-onset Huntington’s disease. After the first manifestation of symptoms, the average lifespan of a patient diagnosed with this condition ranges from ten to fifteen years. Adult-onset Huntington illness, on the other hand, is the most common form of the condition, and symptoms typically begin to appear between the ages of 30 and 40 in affected individuals. Patients who have this condition will have trouble learning new information, making decisions, coordinating their motions, experiencing minor involuntary movements, feeling depressed, and being irritable (Tabrizi et al., 2020). The progression of the disease is marked by an increase in the severity of the involuntary movements, which occur alongside the worsening of the other symptoms. After the first manifestation of symptoms, patients who have been diagnosed with adult-onset Huntington’s disease normally live between 15 and 20 years on average.
Diagnostic Tests
A blood sample will be taken from the patient in order to perform genetic testing in order to identify Huntington’s disease (HD). Polymerase chain reaction (PCR) testing and fragment sizing will be performed on the cytosine-adenine-guanine (CAG) trinucleotide repeat region of the HTT gene as part of the investigation (Kim et al., 2020). Tests like these can be given to those who have a history of Huntington’s disease in their families, regardless of whether or not they have any symptoms themselves. In most cases, the findings of these tests are coupled with those of other neurological and laboratory examinations. This is done in addition to the patient’s medical history. The patient’s motor, sensory, and mental symptoms will be evaluated throughout the course of the neurological examination. As part of the neuropsychological evaluation, the patient will be given standardized tests to measure their thinking, language abilities, mental agility, and memory. In order to refine the diagnosis, brain scans such as electroencephalography (EEG), computed tomography (CT), and magnetic resonance imaging (MRI) could be ordered and examined.
FDA Regulations on New Pharmaceutical Agents
An international task force has been established by the European Huntington’s Disease Network (EHDN) with the mission of developing treatment guidelines for the management of Huntington’s disease that are founded on scientific data (HD). Tetrabenazine is generally regarded as the medication of choice for controlling the symptoms of this condition at this stage. The treatment of patients suffering from the chorea that is linked with Huntington’s disease using the pharmaceutical Austedo (deutetrabenazine) has been given the green light by the FDA (Stahl & Feigin, 2020). Chorea is characterized by abrupt, erratic, and uncontrollable movements, and it is seen in patients who have Huntington’s disease. The medicine was given the green light for sale following a phase 3 research that proved it was both efficacious and safe in treating chorea. On the other hand, there is a correlation between having this disorder and having a greater risk of suicidal thoughts and depression. The Food and Drug Administration (FDA) has established stringent policies under the New Drug Application (NDA) that require exhaustive testing for the safety and efficacy of new products. These policies must be met before the new products can be incorporated into clinical guidelines for the management of Huntington’s disease.
The Role of Economy in Scientific Advances
The conduct of research, which normally requires a substantial amount of financial investment, is essential to the development of scientific knowledge. In contrast to the past, it is now much more difficult to qualify for grants and to obtain money for research. This is especially true for discovery-based scientific fields, which require the examination of vast databases in order to detect patterns and correlations (Kim et al., 2020). This type of analysis is particularly useful in the current era of omics since it allows for the formulation of novel scientific hypotheses and the debunking of long-held dogmas (Tabrizi et al., 2020). Some of the experiments that are being offered by scientists today have had some adjustments made to them as a result of the restricted money and grants available for scientific research. For instance, review committees for grants are more interested in research proposals that focus on finding solutions to problems, such as novel targets in the prevention of pathogenic infection, rather than the discovery of new drugs for incurable conditions, such as Huntington’s disease, which could take a significant amount of time.
The Role of Family Involvement
Since Huntington’s disease is an inherited condition, it is imperative that the patient’s family members be involved in the decision-making process involving genetic testing for early identification and the management of symptoms. The illness has a substantial impact both emotionally and physically, and the awareness that other members of the family may also be at risk causes stress (Stahl & Feigin, 2020). On the other hand, individuals of the patient’s family and friends who provide assistance to the patient may be at an elevated risk for poor health, social isolation, and depression as a result of their involvement. In order to improve the patient’s health, it is imperative to have a conversation with the treating physician about group therapy and any other forms of supportive treatment that may be available.
Conclusion
Huntington’s disease is a form of neurodegeneration that is passed down via families and most often affects adults, but it can also show up in children. In most cases, the condition is identified as such based on the findings of genetic testing in addition to imaging procedures like CT scans and EEGs. Although there is no known cure for the condition, the Food and Drug Administration (FDA) has given its approval to novel medicines and put those treatments into clinical treatment guidelines for the management of symptoms that people with the disease may experience.
ALSO READ:
DNP 810 Case Study Part 2: Huntington’s Disease
DNP 810 Case Study: Part 3 Huntington’s Disease
DNP 810 Case Study – Cumulative: Part 4
DNP 810 10 Strategic Points Document for a Quality Improvement Project
DNP 810 Health Issues for the Aging
DNP 810 Professionalism and Social Media
DNP 810 Emerging Areas of Human Health Syllabus
References
Aziz, N. A., van der Burg, J. M., Tabrizi, S. J., & Landwehrmeyer, G. B. (2018). Overlap between age-at-onset and disease-progression determinants in Huntington disease. Neurology, 90(24), e2099-e2106. https://doi.org/10.1212/WNL.0000000000005690
Kim, K. H., Hong, E. P., Shin, J. W., Chao, M. J., Loupe, J., Gillis, T., … & Lee, J. M. (2020). Genetic and functional analyses point to FAN1 as the source of multiple Huntington disease modifier effects. The American Journal of Human Genetics, 107(1), 96-110. https://doi.org/10.1016/j.ajhg.2020.05.012
Long, J. D., Lee, J. M., Aylward, E. H., Gillis, T., Mysore, J. S., Elneel, K. A., … & Gusella, J. F. (2018). Genetic modification of Huntington’s disease acts early in the prediagnosis phase. The American Journal of Human Genetics, 103(3), 349-357. https://doi.org/10.1016/j.ajhg.2018.07.017
Stahl, C. M., & Feigin, A. (2020). Medical, surgical, and genetic treatment of Huntington’s disease. Neurologic Clinics, 38(2), 367-378. https://doi.org/10.1016/j.ncl.2020.01.010
Tabrizi, S. J., Flower, M. D., Ross, C. A., & Wild, E. J. (2020). Huntington disease: new insights into molecular pathogenesis and therapeutic opportunities. Nature Reviews Neurology, 16(10), 529-546. https://doi.org/10.1038/s41582-020-0389-4
DNP 810 WEEK 3 Case Study Part 2 Huntingtons Disease Sample
Case Study Part 2: Huntington’s Disease
Huntington’s disease (HD) is a hereditary condition transmitted as an autosomal dominant trait during conception. It is a movement disorder that causes neurologic and behavioral symptoms that typically become evident from 30 to 50 years and aggravate in the next one to two decades of a person’s life (McColgan & Tabrizi, 2018). It is approximated that 30,000 individuals in the United States (US) have HD, and another 20,000 to 50,000 are assumed to carry the gene. Males and females are equally affected at a time in their lives when they are highly productive. HD usually causes chorea, neuropsychiatric symptoms, and dementia during middle age, and most patients ultimately require institutionalization (McColgan & Tabrizi, 2018). The purpose of this paper is to discuss the chromosomal analysis in HD, causes, and gene mutation.
Indications for Chromosomal Analysis
The direct test for the HD gene involves cysteine-adenosine-guanine (CAG) analysis and repeat length. The chromosomal analysis enables healthcare providers to offer genetic counseling and psychological support services that facilitate predictive testing in a timely, sensitive, and informed fashion (Goldman et al., 2021). Indications for chromosomal analysis in HD include predictive testing in an asymptomatic person at risk for carrying the HD gene to confirm a suspected HD diagnosis and for prenatal diagnosis and preimplantation genetic diagnosis (PGD). The common reasons for predictive testing include making plans on marriage, reproduction, finances, and the need to alleviate uncertainty (Goldman et al., 2021). However, the choice to undergo a predictive test chromosomal analysis for HD must always be informed, deliberated, and freely chosen.
Confirmatory testing by chromosomal analysis of the HD gene is indicated at or following a clinical diagnosis of HD. A CAG replicate expansion in a patient with HD symptoms validates the clinical impression and supports HD diagnosis. In prenatal diagnosis, Chorionic Villus Sampling (CVS) and amniocentesis indicate if the parent is at risk or is positive for the HD gene (Garrett et al., 2019). CVS is performed from 10-12th week gestation, while amniocentesis is done from 14th to 20th week. Furthermore, the PGD test is conducted on a single cell obtained through a needle biopsy from the eight-cell embryo. The chromosomal analysis is carried out on the DNA from the single-cell, facilitating the detection of the HD replicates sizes for the specific embryo. It is worth noting that children should not undergo chromosomal analysis for HD except if there is a medically convincing reason, like a clinical diagnosis or a strong clinical suspicion of HD (Garrett et al., 2019). In these circumstances, the chromosomal analysis should come after a thorough neurological and neuropsychological examination.
Causes of Huntington’s Disease
HD is attributed to selective dysfunction of the neurons and ensuing neuronal in the cerebral cortex, striatum, and other brain regions. It is attributed to the elongation of CAG replicates on the short arm of chromosome 4p16.3 in the Huntingtin (HTT) gene. The mutation results in an unusually long expansion of the polyglutamine in the HTT protein, resulting in neurodegeneration (Ghosh & Tabrizi, 2018). The HTT protein’s gene encodes are involved in synaptic function and have a major role in the post-embryonic period. Besides, it is supposed to have anti-apoptotic functions and protects against the toxic mutant HTT. Some evidence shows that the mutant protein causes an addition and a loss of function.
Origin of Huntington’s Disease and Considerations for Practice and Patient Education
The HD gene is evident from conception and is inherited in an autosomal dominant manner. This means that every offspring of an affected parent, regardless of sex, has a 50% probability of inheriting the HD gene. HD is a single gene disorder attributed to a mutation in the HD gene (IT15) on chromosome 4 (Ghosh & Tabrizi, 2018). This causes unusual replication of the DNA sequence CAG, which normally codes for the amino acid glutamine. It results in a large protein referred to as huntingtin, which has an extended stretch of polyglutamine residues that build up within neurons contributing to HD through unknown mechanisms. The more CAG replicates, the earlier the onset of HD and the more acute its expression (Ghosh & Tabrizi, 2018). The number of CAG replications increases with consecutive generations when the father transmits the mutation and can cause increasingly adverse phenotypes within a family over time.
In clinical practice, the clinician should consider that there is no existing treatment for HD, and the only approach to prevent gene transmission is for affected individuals to avoid having biological children. Patient education should involve genetic counseling, which is crucial for the offspring of patients with HD. The DNP-nurse should educate patients at risk for HD to be tested to establish whether they have an HD gene mutation. However, before the test, the DNP-nurse should counsel patients to ensure that they have voluntarily decided to undergo testing (McColgan & Tabrizi, 2018). Besides, counseling helps identify whether the advantages of knowing the results outweigh the risks of a positive result like mental distress.
Gene Mutation of Huntington’s Disease
The HD gene mutation is considered a multiple repeats of the particular base triplet CAG, which increases the gene’s length. HD is passed on as a dominant Mendelian gene. An autosomal dominant trait with a high penetrance means that an individual who inherits just one mutated allele has almost a 100% probability of developing HD (Gatto et al., 2020). Individuals who inherit the HD gene mutation from their father have an early onset of the disease and a shorter life expectancy compared to those who inherit it from their mother. Furthermore, there are differences in HD based on the size or length of the HD gene mutation. The longer the mutation, the more critical the HD is at an earlier age. Patients commonly have the HTT allele with CAG repeats ranging from 36 to 55. Besides, persons with juvenile-onset the disorder typically have CAG repeats above 60 (Gatto et al., 2020). However, individuals with alleles ranging from 27 to 35 do not exhibit signs of HD but are inclined to repeat instability.
Conclusion
HD is a neurodegenerative disorder caused by a dominantly inherited CAG replicate expansion in the huntingtin gene on chromosome 4. Chromosomal analysis for HD includes predictive testing in at-risk patients, confirmation of a suspected HD diagnosis, prenatal diagnosis, and preimplantation genetic diagnosis. The HD gene mutation has various expressions based on if an individual inherits it from the father or mother. Genetic counseling is crucial before genetic testing, and the DNP-nurse should ensure that the patient’s decision is voluntary.
References
Garrett, J. R., Lantos, J. D., Biesecker, L. G., Childerhose, J. E., Chung, W. K., Holm, I. A., … & Brothers, K. (2019). Rethinking the “open future” argument against predictive genetic testing of children. Genetics in Medicine, 21(10), 2190-2198. https://doi.org/10.1038/s41436-019-0483-4
Gatto, E. M., Rojas, N. G., Persi, G., Etcheverry, J. L., Cesarini, M. E., & Perandones, C. (2020). Huntington’s disease: Advances in the understanding of its mechanisms. Clinical parkinsonism & related disorders, 3, 100056. https://doi.org/10.1016/j.prdoa.2020.100056
Ghosh, R., & Tabrizi, S. J. (2018). Huntington disease. Handbook of Clinical Neurology, 255–278. https://doi.org/10.1016/b978-0-444-63233-3.00017-8
Goldman, J., Xie, S., Green, D., Naini, A., Mansukhani, M. M., & Marder, K. (2021). Predictive testing for neurodegenerative diseases in the age of next‐generation sequencing. Journal of Genetic Counseling, 30(2), 553-562. https://doi.org/10.1002/jgc4.1342
McColgan, P., & Tabrizi, S. J. (2018). Huntington’s disease: a clinical review. European journal of neurology, 25(1), 24–34. https://doi.org/10.1111/ene.13413