DNP 810 Topic 8 Case Study: Cumulative Part 4
DNP 810 Topic 8 Case Study: Cumulative Part 4
Huntington’s disease (HD) is a chronic, neurodegenerative brain condition. It is estimated that 5 to 10 in 100,000 people are affected by HD (Ohlmeier et al., 2019). Statistics reveal that about 189700 persons are affected by the disease worldwide. HD typically starts from 30 to 50 years, but it can begin at a younger age. It affects a person’s movement, behavior, thinking, understanding, learning, remembering, and personality. The most common symptom in HD is chorea, which is characterized by an uncontrollable movement that causes dance-like movements. Other common problems include speech and walking difficulties. Other symptoms that occur in HD include Memory loss, poor concentration, trouble doing tasks, impulse and control problems; Depression and lack of interest; Sleep changes; Sexual problems; Difficulty swallowing, and Falls.
Laboratory tests that can be conducted in HD include direct genetic tests, which are the most effective techniques for testing HD (NINDS, 2020). It is performed by counting the number of CAG repeats obtained from the HD genes via DNA extracted from blood samples. Allele sizes of 36 to 39, also referred to as reduced penetrance HD-causing alleles, are at risk for developing HD but may not be symptomatic (NINDS, 2020). Allele size of 40 or more repeats is associated with the development of HD.
HD is an autosomal-dominant inherited disorder that results from replication in the DNA strand (Roos, Wiklund & Laurell, 2017). It also occurs due to an abnormality in Cytosine-Adenine-Guanine (CAG) in the DNA strand, which replicates up to 36 or more times on the short arm of chromosome for persons with the Huntington gene. HD is linked to a multiple number of repeats of CAG in the chromosome of individuals with the condition.
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Origin of Huntington’s disease
HD is an autosomal dominant inherited disorder, which means that an individual only needs to inherit an abnormal gene from one parent. HTT protein is a major determinant in the development of HD (Rodríguez-Quiroga et al., 2013). Molecular studies involving SCA rated as 1, 2, 3, 6, 8, 17, and dentatorubropallidolusyian atrophy (DRPLA) reveal that HD-like genes (HDL2) are expanded in alleles of carriers thus providing a foundation for the development of diagnosis.
How Genetics Can Influence Policy Issues
Genetic revolutions have led to the need to consider healthcare policy issues such as genetic privacy, gene patenting, education, regulation, and standardization of genetic tests. The use of the currently existing genetic tests also faces the challenge of the lack of testing regulation as well as assessment. Consequently, not all the genetic tests conducted are beneficial for clinical assessment (Glasner & Rothman, 2017). Therefore, policy interventions that strengthen the legislations on these policy areas should be adopted.
Genetics raises the need for public participation on issues surrounding genetic tests, use, and significance. The issues include federal financing on the different genetic studies and the need for or lack of clinician involvement in the direct-to-consumer testing in genetics (Glasner & Rothman, 2017). Therefore, public opinion is essential since it influences the policies that should be adopted in undertaking genetic testing. Genetics thus influences the adoption of policies that safeguard the interests of various stakeholders in society.
Nutritional Influences for Huntington’s Disease
Huntington gene (HTT) with the expanded CAG repeats causes HD. The HTT gene is found in the liver and is associated with
deficiencies in the urea cycle. The disruption of the urea cycle is usually due to the influence of argininosuccinase acid lyase and argininosuccinic acid synthase enzymes (Chen et al., 2015). The activity of the enzymes can be regulated by dietary modification. For instance, the restriction of dietary proteins has been shown to normalize blood citrulline and ammonia levels in HD. The consequence is the minimal aggregation of the HTT genes in the liver, enhanced rotarod activity alongside elevated striatal brain-derived neurotropic factor (Chen et al., 2015). Consequently, these changes lower incidences of deficiencies in the urea cycle, thus, reducing the severity of the disease.
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Process of Nutritional Assessment and Counseling
Nutritional assessment by a dietitian is recommended in patients with HD since the condition is associated with marked weight loss. Factors attributed to weight loss include mood, behavior, and swallowing inability (Domino et al., 2019). Nutritional assessment should focus on multiple aspects, including a patient’s eating habits and patterns, as the disease can interfere with the eating pattern. The evaluation should evaluate the severity of dysphagia using tools such as the Swallowing Disturbance Questionnaire (Domino et al., 2019). A patient should also be assessed for signs of food aspiration when liquid foods. Nutritional counseling in patients with weight loss includes recommending them on high calorie, and protein supplements.
Ethical Considerations for Huntington’s disease
Ethical principles of autonomy, beneficence, nonmaleficence, and justice should be considered in the practice of genetic counseling of HD. Health professionals need to balance the demands of competing principles and decide on a course of action that could, at times, be thought of as paternalistic and as overriding respect for autonomy. For instance, the conditional access to the HD predictive program can be viewed as paternalistic. The ethical principles are founded on the ethics of care, which entail insight into and understanding an individual’s circumstances, needs, and feelings.
Important information for writing discussion questions and participation
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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.
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.
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:
- 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.
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.
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.
- 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 as 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.
In addition, your case study must include the following:
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.
- 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 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.
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