DNP 810 Topic 3 Case Study: Part 2
DNP 810 Topic 3 Case Study: Part 2
Case Study 3
How Genetics Influence Policy Issues
Genetics have a significant influence on policy issues. Genetic revolutions have raised the need for the consideration of healthcare policy issues that include genetic privacy, gene patenting, education, and regulation as well as standardization of genetic tests. Over the past few years, there has been a lack of adequate policy to address these issues. For example, a significant variation exists in the legislations adopted by countries to address the issue of genetic privacy. The use of the currently existing genetic tests also faces the challenge of the lack of testing regulation as well as assessment. As a result, not all the tests that are conducted are beneficial for clinical assessment (Glasner & Rothman, 2017). Therefore, policy interventions that aim at strengthening the legislations on these policy areas should be adopted.
Genetics also raises the need for public participation on issues surrounding genetic tests, use, and their significance. Governments have to ensure that the publics are informed about the different issues surrounding genetics. The issues include federal spending on the different genetic studies and the need of or lack of clinician involvement in the direct-to-consumer testing in genetics. Accordingly, public opinion is important since it shapes the policies that should be adopted in undertaking genetic testing. Accordingly, it not only influences the political decisions made by the politicians but also the designing of studies and interactions with patients by the clinicians. Based on this information, genetics influence the adoption of policies that safeguard the interests of various stakeholders in the society (Glasner & Rothman, 2017). An example is the Genetic Information Nondiscrimination Act that was adopted to provide strict oversight on clinical, laboratory, as well as in vitro genetic tests.
Social, Legal, and Ethical Implications of Genetic Testing
Genetic testing is associated with significant social, legal, and ethical implications that healthcare providers and policymakers must consider. Equity is one of the social issues that influence genetic testing in the modern world. Genetic testing should take into consideration the issues of fairness, justice, and equity. However, concerns have been raised on whether genetics will be used for discriminatory practices. In this case, a diagnosis of a genetic disorder in a population should not form the basis of discrimination in the access to the existing social resources. The other social issue arising from genetic testing is its social benefits. Accordingly, genetic testing should promote social wellbeing. The results should be used to inform positive social developments. Despite this, there are concerns genetic testing might act as the basis of violation of ethical principles of safety, informed consent, justice, non-maleficence and benevolence (Pitini et al., 2019). Therefore, it is essential that genetic testing consider these issues.
Genetic testing is also associated with significant legal implications. One of them is the promotion of privacy and confidentiality of genetic data and results. Genetic testing should be conducted with the protection of patient’s privacy. The privacy includes the patient or participant’s ability to provide informed and independent decisions on what and whether others should be informed about their genomic results. Confidentiality must also be promoted by ensuring that sensitive information is only accessed by authorized parties. It includes non-disclosure of the patient’s data. Therefore, healthcare providers, researchers, and institutions of healthcare are required by the law to protect privacy and confidentiality of the data as a way of ensuring safe use of genetic data and results (Quinn & Quinn, 2018). Cumulatively, the above findings demonstrate that genetic testing has ethical implications too. They include the need for the consideration of ethical principles that include justice, privacy, confidentiality, and informed consent and decision-making in genetic testing.
Nutritional Influences for the Cause of Huntington’s Disease
Huntingtin gene (HTT) gene with the expanded CAG repeats causes Huntington’s disease. The HTT gene is found in the liver and is attributed to deficiencies in the urea cycle. The disruption of the urea cycle occurs due to the influence of argininosuccinase acid lyase and arginosuccinic acid synthase enzymes. The activity of these enzymes can be regulated through dietary modification. For example, restriction of dietary proteins has been shown to result in the normalizing of blood citrulline and ammonia levels in Huntington’s disease. 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). Therefore, these changes reduce incidences of deficiencies in the urea cycle, hence, reduction in the severity of the disease.
Despite the above evidence on the positive influence of restricted protein intake, some dietary interventions have been associated with the development of Huntington’s disease in asymptomatic patients. For example, the consumption of dairy products is attributed to a two-fold rise in the risk of the development of the disease. The risk is attributed to the elevated phenoconversion. There is also the evidence that individuals who consume Mediterranean diet have increased risk of developing Huntington’s disease due to high rate of phenoconversion (Khan et al., 2020). Therefore, nutritional guidance, assessment, and counseling should be utilized to improve the health outcomes of patients suffering from the disease.
Topic 5 DQ 2
Jul 7-11, 2022
Choose one disorder of malnutrition that is found in your clinical setting or community. What are
the genetic and environmental influences on this disorder, including prevalence rates, testing,
treatment, and prognosis? How can the doctoral-prepared nurse apply this information into
practice? Explain. Support your rationale with a minimum of two scholarly sources.
REPLY TO DISCUSSION
JM
Jennifer Murillo
Jul 11, 2022, 8:23 PM
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Replies to Jennifer Murillo
Recognized as a developmental disorder, cerebral palsy affects individuals at a very young age.
Cerebral palsy can directly impact nutrition because the condition often adversely impacts the
muscles necessary for chewing and swallowing (Aydin et al., 2018). Malnutrition in children with
CP is usually caused by poor oral-motor function, which impairs the child’s ability to consume
calories and nutrients required to support growth (Aydin et al., 2018). Moreover, children need
adequate nutrition when concerning the promotion of both development as well as growth. A
healthy diet also improves energy levels and body functions, which can positively affect
performance during physical therapy (Aydin et al., 2018). Unfortunately, the condition can also
require specific medications, making children lose their appetite or interest in food or water.
Individuals falling within the majority that possess Cerebral Palsy, 93%, will experience feeding
difficulties. Since CP results in impairment of muscle groups, facial muscles can be affected. The
facial muscles are one of the most important muscle groups in the body. Impairment hampers a
child’s ability to chew, suck, or swallow, creating a high risk for undernourishment, failure to thrive,
malnutrition, growth delay, and digestive difficulties (Aydin et al., 2018). Medical professionals may
potentially suggest brain imaging tests, such as x-ray computed tomography (CT scan) or
magnetic resonance imaging (MRI) (Morgan et al., 2019). In addition, an electroencephalogram
(EEG), genetic testing, metabolic testing, or a combination of these might also undergo enactment
(Morgan et al., 2019). Moreover, in a generalized manner, CP undergoes diagnosis during the first
or second year after birth. Furthermore, primary treatment options for cerebral palsy are
medication, therapy, and surgery (Morgan et al., 2019).
Cerebral palsy treatment aims to manage symptoms, relieve pain, and maximize independence to
achieve long, healthy life (Novak et al., 2017). When the life expectancy of those with CP, this
specific life expectancy undergoes calculations in which a child’s condition severity is considered.
Mobility issues, intellectual disabilities, vision/hearing impairments, etc., all impact the lifespan of
those with CP (Novak et al., 2017). Most children with milder forms of cerebral palsy have average
survival times similar to those of the general population. However, multiple impairments may also
lower cerebral palsy life span. According to Dr. Ananya Mandal, children with mild cerebral palsy
possess a heightened likelihood (ninety-nine percent chance) of living to 20 years old (Novak et
al., 2017). The two factors that have the most significant impact concerning a child’s lifespan with
the inclusion of cerebral palsy are addressed to be intellectual and motor developmental
challenges (Novak et al., 2017). As these impairments undergo an increase in severity, a child’s
life expectancy can see a decline.
The importance of DNP-prepared nurses recognizing and managing cerebral palsy’s many
significant comorbidities is as vital as treating motor disabilities and working with the patient’s
families to adjust diet, nutrients, and supplements to contribute significantly to an individual’s
overall health. Recent advances in understanding cerebral palsy include new ways of thinking
about disability, casual pathway recognition, and improvements rooted in measurement,
classification, and prognostication (Novak et al., 2017). Challenges entail family as well as child
well-being, tackling the lifelong issues faced by individuals with cerebral palsy, as well as the
persisting need for tertiary, secondary, as well as primary prevention of the impact that cerebral
palsy contributes regards to the daily livelihoods of others (Novak et al., 2017). With most
individuals with CP reporting feeding or digestive difficulties, a dietary counseling program can be
highly beneficial.
References
Aydin, K., Akbas, Y., Unay, B., Arslan, M., Cansu, A., Sahin, S., … & Sarioglu, A. A. (2018). A
multicenter cross-sectional study to evaluate the clinical characteristics and nutritional status of
children with cerebral palsy. Clinical Nutrition ESPEN, 26, 27-34.
Morgan, C., Romeo, D. M., Chorna, O., Novak, I., Galea, C., Del Secco, S., & Guzzetta, A. (2019).
The pooled diagnostic accuracy of neuroimaging, general movements, and neurological
examination for diagnosing cerebral palsy early in high-risk infants: a case-control study. Journal
of clinical medicine, 8(11), 1879.
Novak, I., Morgan, C., Adde, L., Blackman, J., Boyd, R. N., Brunstrom-Hernandez, J., … & Badawi,
N. (2017). Early, accurate diagnosis and early intervention in cerebral palsy: advances in
diagnosis and treatment. JAMA pediatrics, 171(9), 897-907.
Nutritional Assessment and Counseling
Adequate nutrition is important for patients suffering from Huntington’s disease. Patients are often wasted and underweight for their
age and height. Their being underweight requires that they take more calories in their diets when compared to their daily intake to meet the energy needs due to their physical activity. It is therefore important that these patients be assessed on a regular basis to determine their nutritional needs. Nutritional assessment should focus on multiple aspects. They include their eating habits and patterns since the disease can interfere with their eating. The assessment should also determine the severity of dysphagia using relevant tools such as the Swallowing Disturbance Questionnaire (Domino et al., 2019). The patient also needs observation for any signs of food aspiration upon consuming liquid foods.
Nutritional counseling plays a critical role in the promotion of health of patients suffering from Huntington’s disease. Patients should be educated on the importance of adequate nutrition to overcome the risks of malnutrition and its associated morbidities. Patients should be counseled on the need to take food that supplies at least 25 to 35 kcal.kg/day’s total energy. The ratio of carbohydrates and fat in the diet should remain normal as in the case of healthy beings. The patient should also consume animal protein, with the diet supplying proteins ranging between 0.8 and 1.5 g protein.kg/day (Essa et al., 2018). However, the dietary needs are revised based on the different stages of the disease in patients.
Prevalence Rates, Testing, Treatment, and Prognosis
The prevalence rate of Huntington’s disease due to nutritional causes remains unknown. However, it is estimated that about 5 to 10 people are affected by it in a population of 100,000 people. Global statistics reveal that about 189700 people are affected by the disease globally (Rodríguez-Quiroga et al., 2013). Genetic testing is often done to diagnose an individual with Huntington’s disease. A direct genetic test is done to count the number of the CAG repeat strains in the genes of the disease. A diagnosis is confirmed with the presence of at least 36 CAG repeats in the gene. The treatments that are used in Huntington’s disease depend largely on the symptoms that the patient present with to the hospital. Chorea, akathisia, and rigidity are treated with drugs that include tetrabenazine and neuropletics. Dystonia is treated with physiotherapy to maintain motion of joints. Myoclonus is treated with clonazepam, levetiracetam, and benzodiazepines. Balance disorders are managed with physiotherapy interventions while bruxism is treated with the injection of botulin toxin into masseter muscle (Bachoud-Lévi et al., 2019). The symptoms of Huntington’s disease worsen over time. The worsening is attributed to the progressive nature of the disease. However, it is estimated that people with the disease have a lifespan of about 15 to 25 years when diagnosed with it.
References
Bachoud-Lévi, A. C., Ferreira, J., Massart, R., Youssov, K., Rosser, A., Busse, M., … & Squitieri, F. (2019). International Guidelines for the treatment of Huntington’s Disease. Frontiers in neurology, 10, 710.
Chen, C. M., Lin, Y. S., Wu, Y. R., Chen, P., Tsai, F. J., Yang, C. L., … & Soong, B. W. (2015). High protein diet and Huntington’s disease. PLoS One, 10(5), e0127654.
Domino, F. J., Baldor, R. A., Golding, J., & Stephens, M. B. (2019). The 5-minute Clinical Consult 2020. Lippincott Williams & Wilkins.
Essa, M. M., Manivasagam, T., Justin-Thenmozhi, A., & Hamid, Q. A. (2018). Food for Huntington’s disease. Nova Science Publishers, Inc..
Glasner, P., & Rothman, H. (2017). Splicing Life?: The New Genetics and Society. Taylor & Francis.
Pitini, E., D’Andrea, E., De Vito, C., Rosso, A., Unim, B., Marzuillo, C., … & Villari, P. (2019). A proposal of a new evaluation framework towards implementation of genetic tests. PloS one, 14(8), e0219755.
Khan, H., Ullah, H., Tundis, R., Belwal, T., Devkota, H. P., Daglia, M., … & Du, M. (2020). Dietary Flavonoids in the Management of Huntington’s Disease: Mechanism and Clinical Perspective. eFood, 1(1), 38-52.
Quinn, P., & Quinn, L. (2018). Big genetic data and its big data protection challenges. Computer law & security review, 34(5), 1000-1018.
Rodríguez-Quiroga, S. A., Gonzalez-Morón, D., Garretto, N., & Kauffman, M. A. (2013). Huntington’s disease masquerading as spinocerebellar ataxia. Case Reports, 2013, bcr2012008380. doi: 10.1136/bcr-2012-008380.
DNP 810 Topic 5 Case Study: Part 3
You will be creating a case study in stages over four course topics. This assignment will add to your previous work in Topic 3. Use an example from your own personal practice, experience, or own personal/family; however, simulated cases are not acceptable for practice 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.
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.
Directions:
For this assignment (Part 3 of the “Case Study”), write a paper (1,000-1,250 words) incorporating genetics information learned from assigned readings in Topics 1-5.
Include the following:
- Examine how genetics can influence policy issues.
- Discuss any nutritional influences for the cause of this disease.
- Discuss the process of nutritional assessment and counseling as it relates to health, prevention, screening, diagnostics, prognostics, selection of treatment, and monitoring of treatment effectiveness.
- Discuss the prevalence rates, testing, treatment, and prognosis as they relate to human nutrition.
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 all approvals are in place from my faculty and practice mentor.
Environmental considerations affect the quality of life, health years, and health disparities. Any physical, chemical, or biological factors external to an individual as defined by the World Health Organization (Thomas, 2016). Protecting a person’s environmental health is the prevention or control of injuries and disabilities that may occur due to their interactions with these environmental factors. Thus, the control or maintenance of the hygiene of the environment will increase the quality and the years of life. Specific environmental factors include exposure to hazardous materials in air, water, soil, and food, natural and technological disasters, climate change, and occupational hazards. If controlled, they may reduce the probability of exposure and disease (HealthyPeople.gov, 2020). Hence, including information on environmental influences in a health and physical assessment gives practitioners a more overall picture of a person’s risk for developing diseases when viewed in combination with genomic influences.
DNP nurses can integrate environmental information and the genomic influences of physical and health assessment in the patient care plan. Armed with environmental and genomic information, the DNP nurse can assist the patient by recommending environmental modifications to positively impact their health, illness, or disease. They can steer patients towards changes in their environmental relationships that will support their health.
Reference
Environmental conditions. Environmental Conditions | Healthy People 2020. https://www.healthypeople.gov/2020/topics-objectives/topic/social-determinants-health/interventions-resources/environmental
Thomas, A. (2016). Environmental Public Health Week. Environmental Health Review, 59(4), 112–112. https://doi.org/10.5864/d2016-030
Rubric Criteria
Total50 points
Criterion
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1. Unsatisfactory
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2. Less Than Satisfactory
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3. Satisfactory
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4. Good
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5. Excellent
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Process of Nutritional Assessment and Counseling
Process of Nutritional Assessment and Counseling Related to Health, Prevention, Screening, Diagnostics, Prognostics, Selection of Treatment, and Monitoring of Treatment Effectiveness
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0 points
The process of nutritional assessment and counseling as it relates to health, prevention, screening, diagnostics, prognostics, selection of treatment, and monitoring of treatment effectiveness is not presented.
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8 points
The process of nutritional assessment and counseling as it relates to health, prevention, screening, diagnostics, prognostics, selection of treatment, and monitoring of treatment effectiveness is presented but incomplete.
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8.8 points
The process of nutritional assessment and counseling as it relates to health, prevention, screening, diagnostics, prognostics, selection of treatment, and monitoring of treatment effectiveness is presented but done at a perfunctory level.
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9.2 points
The process of nutritional assessment and counseling as it relates to health, prevention, screening, diagnostics, prognostics, selection of treatment, and monitoring of treatment effectiveness is clearly presented. Discussion is convincing. Information presented is from mostly current scholarly sources, but some outdated sources are used.
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10 points
The process of nutritional assessment and counseling as it relates to health, prevention, screening, diagnostics, prognostics, selection of treatment, and monitoring of treatment effectiveness is clearly presented. Discussion is insightful and detailed. Information presented is from current scholarly sources.
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Argument Logic and Construction
Argument Logic and Construction
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0 points
Statement of purpose is not justified by the conclusion. The conclusion does not support the thesis. Argument is incoherent and uses noncredible sources.
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3.2 points
Sufficient justification of thesis is lacking. Argument lacks consistent unity. There are obvious flaws in the logic. Some sources have questionable credibility.
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3.52 points
Argument is orderly but may have a few inconsistencies. The argument presents minimal justification of the thesis. Argument logically, but not thoroughly, supports the purpose. Sources are credible. Introduction and conclusion bracket the thesis.
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3.68 points
Argument shows logical progressions. Techniques of argumentation are evident. There is a smooth progression in support of the thesis from introduction to conclusion. Most sources are authoritative.
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4 points
Clear and convincing argument that presents a persuasive evidence in support of the thesis in a distinctive and compelling manner. All sources are authoritative.
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Paper Format (Use of appropriate style for the major and assignment)
Paper Format (Use of appropriate style for the major and assignment)
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0 points
Template is not used appropriately, or documentation format is rarely followed correctly.
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2 points
Appropriate template is used, but some elements are missing or mistaken. A lack of control with formatting is apparent.
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2.2 points
Appropriate template is used. Formatting is correct, although some minor errors may be present.
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2.3 points
Appropriate template is fully used. There are virtually no errors in formatting style.
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2.5 points
All format elements are correct.
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Prevalence Rates, Testing, Treatment, and Prognosis as They Relate to Human Nutrition
Prevalence Rates, Testing, Treatment, and Prognosis as They Relate to Human Nutrition
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0 points
Discussion of prevalence rates, testing, treatment, and prognosis as they relate to human nutrition is not presented.
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6 points
Discussion of prevalence rates, testing, treatment, and prognosis as they relate to human nutrition is presented, but incomplete.
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6.6 points
Discussion of prevalence rates, testing, treatment, and prognosis as they relate to human nutrition is present but done at a perfunctory level.
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6.9 points
Discussion of prevalence rates, testing, treatment, and prognosis as they relate to human nutrition is clearly presented. Discussion is convincing. Information presented is from mostly current scholarly sources, but some outdated sources are used.
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7.5 points
Discussion of prevalence rates, testing, treatment, and prognosis as they relate to human nutrition is clearly presented. Discussion is insightful and detailed. Information presented is from current scholarly sources.
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Nutritional Influences for the Cause of This Disease
Nutritional Influences for the Cause of This Disease
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0 points
Discussion of any nutritional influences for the cause of this disease is not present.
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6 points
Discussion of any nutritional influences for the cause of this disease is present but incomplete.
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6.6 points
Discussion of any nutritional influences for the cause of this disease is present but done at a perfunctory level.
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6.9 points
Discussion of any nutritional influences for the cause of this disease is clearly present. Discussion is convincing. Information presented is from scholarly but dated sources.
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7.5 points
Discussion of any nutritional influences for the cause of this disease is clearly present. Discussion is insightful. Information presented is from current scholarly sources.
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Thesis Development and Purpose
Thesis Development and Purpose
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0 points
Paper lacks any discernible overall purpose or organizing claim.
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2.8 points
Thesis is insufficiently developed and/or vague; purpose is not clear.
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3.08 points
Thesis is apparent and appropriate to purpose.
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3.22 points
Thesis is clear and forecasts the development of the paper. It is descriptive and reflective of the arguments and appropriate to the purpose.
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3.5 points
Thesis is comprehensive. The essence of the paper is contained within the thesis. Thesis statement makes the purpose of the paper clear.
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Mechanics of Writing (includes spelling, punctuation, grammar, language use)
Mechanics of Writing (includes spelling, punctuation, grammar, language use)
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0 points
Surface errors are pervasive enough that they impede communication of meaning. Inappropriate word choice and/or sentence construction are used.
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2 points
Frequent and repetitive mechanical errors distract the reader. Inconsistencies in language choice (register), sentence structure, and/or word choice are present.
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2.2 points
Some mechanical errors or typos are present but are not overly distracting to the reader. Correct sentence structure and audience-appropriate language are used.
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2.3 points
Prose is largely free of mechanical errors, although a few may be present. A variety of sentence structures and effective figures of speech are used.
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2.5 points
Writer is clearly in command of standard, written, academic English.
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Examination of How Genetics Can Influence Policy Issues
Examination of How Genetics Can Influence Policy Issues
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0 points
Examination of how genetics can influence policy issues is not present.
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8 points
Examination of how genetics can influence policy issues is present but incomplete.
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8.8 points
Examination of how genetics can influence policy issues is present but done at a perfunctory level.
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9.2 points
Examination of how genetics can influence policy issues is clearly presented. Discussion is convincing. Information presented is from scholarly but dated sources.
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10 points
Examination of how genetics can influence policy issues is clearly presented. Discussion is insightful. Information presented is from current scholarly sources.
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Documentation of Sources
Documentation of Sources (Includes citations, footnotes, references, bibliography, etc., as appropriate to assignment and style.)
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0 points
Sources are not documented.
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2 points
Documentation of sources is inconsistent or incorrect, as appropriate to assignment and style, with numerous formatting errors.
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2.2 points
Sources are documented, as appropriate to assignment and style, although some formatting errors may be present.
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2.3 points
Sources are documented, as appropriate to assignment and style, and format is mostly correct.
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2.5 points
Sources are completely and correctly documented, as appropriate to assignment and style, and format is free of error.
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Initial responses to the DQ should address all components of the questions asked, including a minimum of one scholarly source, and be at least 250 words. Successful responses are substantive (i.e., add something new to the discussion, engage others in the discussion, well-developed idea) and include at least one scholarly source. One or two-sentence responses, simple statements of agreement or “good post,” and responses that are off-topic will not count as substantive. Substantive responses should be at least 150 words. I encourage you to incorporate the readings from the week (as applicable) into your responses.
Your initial responses to the mandatory DQ do not count toward participation and are graded separately. In addition to the DQ responses, you must post at least one reply to peers (or me) on three separate days, for a total of three replies. Participation posts do not require a scholarly source/citation (unless you cite someone else’s work). Part of your weekly participation includes viewing the weekly announcement and attesting to watching it in the comments. These announcements are made to ensure you understand everything that is due during the week. DNP 810 Topic 3 Case Study: Part 2
- APA Format and Writing Quality
Familiarize yourself with the APA format and practice using it correctly. It is used for most writing assignments for your degree. Visit the Writing Center in the Student Success Center, under the Resources tab in Loud-cloud for APA paper templates, citation examples, tips, etc. Points will be deducted for poor use of APA format or absence of APA format (if required). Cite all sources of information! When in doubt, cite the source. Paraphrasing also requires a citation. I highly recommend using the APA Publication Manual, 6th edition.
I discourage over-utilization of direct quotes in DQs and assignments at the Master’s level and deduct points accordingly. As Masters’ level students, it is important that you be able to critically analyze and interpret information from journal articles and other resources. Simply restating someone else’s words does not demonstrate an understanding of the content or critical analysis of the content. It is best to paraphrase content and cite your source.
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