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Down syndrome

Down syndrome

You will be creating a case report 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 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. Down syndrome

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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 Turnitin. Please refer to the directions in the Student Success Center. Down syndrome

Include the following:

  • Guidelines and reasons behind the FDA regulations for introducing new pharmaceutical agents (policy).
  • The role that money and grants play in scientific advances/the economics of health care (capitalism).
  • The role and involvement family plays into the health care decision.

Directions:

For this assignment (Conclusion of the Case Report), include previous Parts 1, 2, and 3 of the Case Report in one document, combined with additional genetics information learned from the assigned readings from all course topics. This final Case Report document should include the following: Down syndrome

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

Continue your paper with 1,000-1,250 words which include the following:

  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. Down syndrome

 

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