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Clinical Paper Guidelines The paper should be written in APA style The paper should be 5 pages or less, not including the title page or references. Part I (40 points) For the first section of the paper, you should select a clinical genetic disorder – It may be anyone that you see might see in your nursing practice. (E.g. Sickle Cell Disease, Cystic Fibrosis, Marfan Syndrome, Fragile X, Huntingtin Disease, BRCA + Breast Cancer, skin cancer). After you have selected a genetic disorder, you should do a comprehensive review of the literature regarding the disease. Your paper should be evidence based and begin with the following: Describes the type of mutation, the gene involved, where located, and on which chromosome. (For example, discuss the inheritance pattern of the disorder, is it a single base mutation or is it a complex disorder that includes many variants. When was the gene identified, and what current research is underway in this area? Discuss the epidemiology of the disease you selected in the United States, Europe, and worldwide. How is the clinical disorder diagnosed? What are the symptoms that appear, and at what age? What is the life expectancy of an individual with this genetic disease? Part II (60 points) For the second part of the paper, you will Develop a fictional (or real) case study for a patient with the disorder described in the first section. You may use the case studies that we have worked through in class as an example. Develop a three-generation pedigree that demonstrates the inheritance pattern of the disorder. If you have picked a particular cancer, be sure to address if it is a sporadic or inherited cancer, based on the pedigree. For example, if you chose breast cancer for your disease, you would want to make sure that you knew if the woman in your case study had other family members in the pedigree that also had ovarian or breast cancer. In the case study, you should include age of diagnosis and any red flags that were determined by doing the three-generation pedigree. Describe the nursing implications for care of the patient with the genetic disorder, focusing on both physical and psychosocial issues that will be experienced by the family. How will you manage symptoms for both the patient and family? For example, a young couple who believe they are having a healthy little girl, find out that their healthy little girl has a genetic disorder that will cause her to be blind? What are their immediate needs? What will be the needs of the baby, and what will be the needs of her parents going forward? What can you offer to them as an Advanced Practice Nurse? Nursing implications should be evidence based. Rubric NUR 2682 Clinical Paper Guidelines Part 2 NUR 2682 Clinical Paper Guidelines Part 2 Criteria Ratings Pts This criterion is linked to a Learning Outcome Development of Case Study 20 pts Mastery of Project Exceeds Expectation 16 pts Meets Expectations Project Requirements Met 12 pts Meets Most Expectations Almost All Project Requirements Met 4 pts Emerging More Development Required 20 pts This criterion is linked to a Learning Outcome Presentation of a three-generation pedigree representing the case study 10 pts Mastery of Project Exceeds Expectation 8 pts Meets Expectations Project Requirements Met 6 pts Meets Most Expectations Almost All Project Requirements Met 4 pts Emerging More Development Required 10 pts This criterion is linked to a Learning Outcome Well-developed resolution for case study – Nursing Implications 20 pts Mastery of Project Exceeds Expectation 16 pts Meets Expectations Project Requirements Met 12 pts Meets Most Expectations Almost All Project Requirements Met 8 pts Emerging More Development Required 20 pts This criterion is linked to a Learning Outcome Well-developed resolution for case study – Evidence based references to support the case study resolution 5 pts Mastery of Project Exceeds Expectation 4 pts Meets Expectations Project Requirements Met 3 pts Meets Most Expectations Almost All Project Requirements Met 2 pts Emerging More Development Required 5 pts This criterion is linked to a Learning Outcome Well-developed resolution for case study – Correct Use of APA Style 5 pts Mastery of Project Exceeds Expectation 4 pts Meets Expectations Project Requirements Met 3 pts Meets Most Expectations Almost All Project Requirements Met 2 pts Emerging More Development Required 5 pts Total Points: 60