DNP 810 Topic 8 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 other genetic disorder that you and/or the organization you practice in may specialize in treating.

Directions:

For this assignment (Conclusion of the “Case Study”), include Parts 1, 2, and 3 of the “Case Study” in one document, combined with additional genetics information learned from the assigned readings from all course topics. Make sure you have incorporated any faculty feedback received from previous reports. Do not copy/paste entire papers from Parts 1, 2 and 3. Create a document including only the following areas from previous case reports:

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1. Describe the disease, its prevalence, its incidence, and general knowledge of the disease.

Conclusion of the Case Study

Huntington’s disease (HD) 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. HD is a genetic disorder passed on as an autosomal dominant trait during conception. The purpose of this paper is to conclude the previous three assignments on HD and discuss ethical considerations in HD, how genetics can improve care and health outcomes, and patient education plan for HD.

Parts 1-3

Huntington’s disease

HD is a movement disorder that results in neurologic and behavioral symptoms that usually become apparent from 30 to 50 years and worsen in the next one to two decades of a patient’s life. It causes chorea, neuropsychiatric symptoms, and dementia during middle age, and most patients eventually require institutionalization. It is estimated that 30,000 people in the United States (US) have HD, and another 20,000 to 50,000 are presumed to carry the gene (McColgan & Tabrizi, 2018). Males and females are equally affected at a time in their lives when they are highly productive. Studies reveal that children born to parents with HD have a one in two chance of having the disorder and can pass it on to their children. This risk increases to one in three if both parents have the disease.

Laboratory Testing

Lab testing for HD includes genetic testing for the disease using blood samples. Polymerase chain reaction (PCR) testing and fragment sizing are also performed on the cytosine-adenine-guanine (CAG) trinucleotide repeat region of the HTT gene to identify or rule out HD (Kim et al., 2020). These tests are conducted on individuals with a family history of HD, regardless of whether or not they have HD symptoms. In most cases, the findings of the lab tests are coupled with those of other neurological examinations.

1. Discuss the laboratory testing that can be done.
2. Describe if chromosomal analysis is/was indicated and detail the chromosomal change that caused the disease if it is a chromosomal disorder.
3. Describe the disorder in terms of its origin as either a single gene inheritance, or as a complex inheritance and considerations for practice and patient education.
4. Describe the gene mutation of the disease, as well as whether it is acquired or inherited, and how the mutation occurs.
5. Examine how genetics can influence policy issues.
6. Discuss any nutritional influences for this disease.
7. Process of nutritional assessment and counseling as it relates to health, prevention, screening, diagnostics, prognostics, selection of treatment, and monitoring of treatment effectiveness.

In addition, your case study must include the following:

General Requirements:

Use the following information to ensure successful completion of the assignment:

• This assignment uses a rubric. Please review the rubric prior to beginning the assignment to become familiar with the expectations for successful completion.
• Doctoral learners are required to use APA style for their writing assignments. The APA Style Guide is located in the Student Success Center.
• This assignment requires that at least two additional scholarly research sources related to this topic, and at least one in-text citation from each source be included.
• You are required to submit this assignment to LopesWrite. Refer to the LopesWrite Technical Support articles for assistance.

Part 4:

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 and/or patients on this genetic disorder.

It may be possible to earn portfolio practice immersion hours for this assignment. Enter the following after the references section of your paper:

Practice Immersion Hours Completion Statement DNP-810

I, (INSERT NAME), verify that I have completed (NUMBER OF) clock hours in association with the goals and objectives for this assignment. I also have tracked said practice immersion hours in the Typhon Student Tracking System for verification purposes and will be sure that all approvals are in place from my faculty and practice mentor.

Huntington’s Disease: Symptoms, Diagnosis, and Nutritional Management

Huntington’s disease (HD) is a persistent, neurodegenerative brain disorder with an estimated prevalence of 5 to 10 cases per 100,000 individuals (Ohlmeier et al., 2019). Globally, approximately 189,700 individuals are affected by this condition. Onset typically occurs between the ages of 30 and 50, although it can manifest at a younger age.

Symptoms and Diagnosis

HD profoundly impacts various aspects of a person’s life, including movement, behavior, cognition, understanding, learning, memory, and personality. A hallmark symptom of HD is chorea, characterized by uncontrollable, dance-like movements. Additional symptoms encompass:

• Speech and walking difficulties
• Memory loss
• Poor concentration
• Task-execution challenges
• Impulse control issues
• Depression
• Lack of interest
• Sleep disturbances
• Sexual problems
• Difficulty swallowing
• Increased susceptibility to falls

Direct genetic tests constitute the most effective diagnostic approach for HD (NINDS, 2020). This method involves counting the number of CAG repeats in the HD genes, determined through DNA extracted from blood samples. Allele sizes ranging from 36 to 39 indicate a risk of developing HD without necessarily exhibiting symptoms (NINDS, 2020). In contrast, an allele size of 40 or more repeats is associated with the actual manifestation of HD.

Genetic Testing and Implications

HD is an autosomal-dominant inherited disorder resulting from abnormal DNA replication (Roos, Wiklund & Laurell, 2017). The abnormality involves the repetition of Cytosine-Adenine-Guanine (CAG) in the DNA strand, occurring 36 or more times on the short arm of the chromosome for individuals possessing the Huntington gene.

The condition is intricately linked to the multiple repeats of CAG in the chromosome of affected individuals. Molecular studies involving other conditions such as Spinocerebellar Ataxia (SCA) types 1, 2, 3, 6, 8, 17, and Dentatorubropallidoluysian atrophy (DRPLA) have revealed the expansion of HD-like genes (HDL2) in carriers’ alleles, laying the groundwork for diagnostic advancements.

Nutritional Influences for Huntington’s Disease

HD is associated with the Huntington gene (HTT), characterized by expanded CAG repeats. This gene, found in the liver, is linked to deficiencies in the urea cycle. Dietary modification can regulate the activity of argininosuccinase acid lyase and argininosuccinic acid synthase enzymes, both integral to the urea cycle (Chen et al., 2015). For example, restricting dietary proteins has demonstrated normalization of blood citrulline and ammonia levels in HD. This leads to minimal aggregation of HTT genes in the liver, increased rotarod activity, and elevated striatal brain-derived neurotrophic factor (Chen et al., 2015). Consequently, these changes mitigate deficiencies in the urea cycle, thereby reducing the severity of the disease.

Process of Nutritional Assessment and Counseling

In patients with Huntington’s disease (HD), marked weight loss is a common concern, necessitating nutritional assessment by a dietitian. Factors contributing to weight loss in HD include mood fluctuations, behavioral changes, and difficulties in swallowing (Domino et al., 2019). The nutritional assessment process should encompass various aspects, including:

• Evaluation of the patient’s eating habits and patterns
• Severity of dysphagia assessment utilizing tools like the Swallowing Disturbance Questionnaire
• Evaluation for signs of food aspiration during the consumption of liquid foods

Nutritional counseling for patients experiencing weight loss may involve recommendations for high-calorie and protein supplements.

Ethical Considerations for Huntington’s Disease

The practice of genetic counseling for Huntington’s disease (HD) should adhere to ethical principles such as autonomy, beneficence, nonmaleficence, and justice. Health professionals must navigate the complexities of these principles, sometimes making decisions that may be perceived as paternalistic and potentially overriding respect for autonomy. For example, conditional access to the HD predictive program may be viewed as a paternalistic approach. These ethical principles are grounded in the ethics of care, emphasizing an understanding of an individual’s circumstances, needs, and feelings to ensure a comprehensive and empathetic approach to genetic counseling for HD.

Additional Considerations

As research progresses, it is vital to remain informed about new findings regarding Huntington’s Disease, including:

• Latest research on Huntington’s Disease
• Huntington’s Disease life expectancy
• Huntington’s Disease treatment options
• Support groups for individuals and families affected by Huntington’s Disease

Conclusion

Advancements in genetics necessitate consideration of healthcare policy issues, including genetic privacy, gene patenting, education, and the regulation and standardization of genetic tests. Public engagement plays a crucial role in shaping policies that safeguard the interests of diverse stakeholders in society.

Hi Class,

Please read through the following information on writing a Discussion question response and participation posts.

Contact me if you have any questions.

Important information on Writing a Discussion Question

• Your response needs to be a minimum of 150 words (not including your list of references)
• There needs to be at least TWO references with ONE being a peer reviewed professional journal article.
• Include in-text citations in your response
• Do not include quotes—instead summarize and paraphrase the information
• Follow APA-7th edition
• Points will be deducted if the above is not followed

Participation –replies to your classmates or instructor

• A minimum of 6 responses per week, on at least 3 days of the week.
• Each response needs at least ONE reference with citations—best if it is a peer reviewed journal article
• Each response needs to be at least 75 words in length (does not include your list of references)
• Responses need to be substantive by bringing information to the discussion or further enhance the discussion. Responses of “I agree” or “great post” does not count for the word count.
• Follow APA 7th edition
• Points will be deducted if the above is not followed
• Remember to use and follow APA-7th edition for all weekly assignments, discussion questions, and participation points.
• Here are some helpful links
• Student paper example
• Citing Sources
• The Writing Center is a great resource

Comparative justice should be considered in genetic counseling, especially when a person’s needs have to be weighed against those of another. The counselor should consider the possible consequences for the persons involved and analyze who would benefit more and who would be harmed more. The counselor has a duty of preserving the confidentiality of the client’s genetic information from a third party, even if it is a close relative. Information on genetic test results in HD can cause discrimination, stigmatization, and insult to the client’s psychological well-being. Genetic testing often raises questions about intrafamilial relationships, disclosure, confidentiality, and paternalism.

The principle of beneficence in genetic counseling and testing in HD should be considered. The counselor should inform clients on the benefits of genetic testing, which include: eliminating parents’ worries, facilitating planning and preparing for the future, providing early treatment, and maintaining vigilance in healthcare. Furthermore, the counselor should uphold the principle of nonmaleficence by considering the potential harms of genetic testing in HD. Potential harms that should be considered include: disrupting the parent-child relationship, lowering a child’s self-esteem, triggering anxiety about the onset of symptoms, taking away a child’s right to decide, and providing no direct benefit to the child.

Welcome to class

Hello class, and welcome to the course! I am your instructor, and I’m excited to embark on this learning journey with you over the next -weeks. This course will require a significant time commitment, organizational skills, and a high level of dedication. I urge you to refer to the class syllabus for guidance on all assignments throughout the course. Additionally, I have attached the classroom policies to this announcement for you to review carefully. If you have any questions, please feel free to reach out to me via email or the “message” icon in Halo. I check my email regularly, and you can expect a response within 24 hours.

I strongly advise against waiting until the last minute to complete assignments. Weeks 4 and 5 have assignments that require early planning, including the development of a teaching plan and the interview of a community health provider. Please familiarize yourself with the assignment requirements early in the course and plan accordingly. I have provided a YouTube link that explains all the class assignments in detail. It is crucial to watch this 32-minute video, as assignments from week 3 through 5 require strict adherence to instructions. Failure to comply may result in a zero grade. After watching the video, please schedule a one-on-one session with me to discuss your project topic by the second week of class. You can use this link to schedule a 15-minute session. Remember to call me at the scheduled appointment time; I will not initiate the call.

A key point to note is that I do not accept assignments via email. If you encounter technical issues with uploading an assignment, contact the technical department and inform me of the problem. In case of issues that might prevent you from submitting assignments by the deadline, please inform me in advance to request a possible extension. It’s essential to understand that working fulltime or overtime is not an acceptable excuse for late assignments. There is a 5%-point deduction for each day your assignment is late, applicable only to approved extensions. Late assignments without approved extensions will not be accepted.

If you anticipate needing accommodations for any reason, please contact the appropriate department to request them. Plagiarism is strictly prohibited, and it is crucial to cite sources correctly using APA 7th edition. All assignments, including discussion posts, should follow APA formatting guidelines for spacing, font, margin, and indents. Poorly formatted papers will be returned, so I recommend reviewing APA formatting style. I have attached a sample paper in APA format, and additional samples for discussion responses will be posted in subsequent announcements.

For discussions, your initial post should be a minimum of 200 words, and response posts should be a minimum of 150 words. Quality is prioritized over the quantity of words. Your initial post should include a minimum of TWO references, and for response posts, personal experiences count without the need for references. However, if you cite literature in your response, be sure to provide the appropriate reference. Papers in this course should have a minimum of THREE references, with references no more than 5 years old unless recommended as a resource for the class.

Remember that Philippians 4:13 encourages us that we can do all things through Christ who strengthens us. Even in challenging times, we are empowered by this truth. I pray for strength and success for each of you in this course and in navigating life during this challenging period. Relax and enjoy the course!

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