DNP 810 Topic 2 Case Study: Part 1

DNP 810 Topic 2 Case Study: Part 1

Description, Prevalence, and Incidence of Huntington’s Disease

Huntington’s disease (HD) refers to uncommon inherited condition that leads to consistent degeneration of the brain nerve cells and causes brain disorder. The condition has dire impacts on the victim’s functional abilities and often results in emotional problems, uncontrolled movements, loss of the ability to think (cognition), and psychiatric disorders. The symptoms of this disease usually appear in adults within the age range of 30s or 40s. Here the disease may be associated with early symptoms such as depression, poor coordination, irritability, difficulty in learning or decision making, and small involuntary movements. As the condition advances, these symptoms become more definite. However, if the disease develops before the age of 20 years, it is known as juvenile HD. Here it is characterized by challenges in movement and changes in mental and emotional status. Other symptoms include impaired thinking and reasoning abilities, clumsiness, drooling, slurred speech, frequent falling, slow movement, and rigidity. Juvenile HD tends to progress quickly compared to adult-onset form. Although there are drugs that manage the symptoms, the treatment is less effective in preventing the mental, physical, and behavioral reductions linked to the disease.

Regarding the prevalence and incidences of HD, Ohlmeier et al., (2019) estimates that the condition affect 3.6 to 5.7 per 100,000 people in the regions mainly dominated by people of Caucasian descents. However, it is a rare condition in Europe. The reviews in epidemiology of HD propose that the global prevalence varies significantly. This variation could be associated with differences in case-ascertainment and/or criteria for diagnostics. However, the evidence suggests that the incidence of HD is lower in Asian populations. Moreover, evidence indicates that regions such as Australia, Western Europe, and North America have recorded an increase in the HD prevalence over the past 50 years (Rawlinset et al., 2016).

Possible Laboratory Testing for HD

Some of the possible laboratory tests for HD include direct genetic tests which is the most effective technique for testing HD. It works by counting the number of CAG repeats obtained from the HD genes via DNA extracted from blood sample.  When the test reveals 36 or more repeats, it is an indication of HD. Contrarily, 26 or less repeats is an indication of no HD. However, for those who experience borderline range in number of repeats, the physician may request family member to come for assessment and genetic testing (NINDS, 2020).  The other test is neurological test which involves interviewing the client and assessing physical functions by evaluating balance, movement, walking, hearing, reflexes, mental status, and muscle tone to rule out other condition. However, NINDS (2020) argue that a number of laboratory tests can be ordered in neurological tests and those diagnosed with HD referred to the appropriate specialist.  Moreover, diagnostic brain imaging tests including computed tomography (CT) and magnetic resonance imaging (MRI) can also be used to reveal decline of striatum, sections of cortex, and increase in brain ventricles, which ordinarily indicate HD.

DNP 810 Topic 2 Case Study: Part 1

You will be creating a case study in stages over four course topics. 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 in which you practice may specialize in treating.

Directions:

For this assignment (Part 1 of the “Case Study”), write a paper (1,000-1,250 words) incorporating genetics information learned from assigned readings in Topics 1 and 2. Include the following:

1. Description of the disease, its prevalence, and its incidence.
2. Discussion of laboratory testing that is possible.
3. Guidelines and reasons behind the FDA regulations for introducing new pharmaceutical agents (policy).
4. The role that money and grants play in scientific advances; the economics of health care (capitalism).
5. The role and involvement family plays into the health care decision.

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

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  for assistance.

Practice 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.

DNP 810 Topic 3 Case Study: Part 2

You will be creating a case study in stages over four course topics. This assignment will add to your previous work in Topic 2. Use an

example from your own personal practice, experience, or your 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  for assistance.

Directions:

For this assignment (Part 2 of the “Case Study”), write a paper (1,000-1,250 words) incorporating genetics information learned from assigned readings in Topics 1-3. Include the following:

1. Describe if chromosomal analysis is/was indicated.
2. Detail the causes of the 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. Analyze the gene mutation of the disease, as well as whether it is acquired or inherited, and how the mutation occurs.

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

Important information for writing discussion questions and participation

Welcome to class

Hello class and welcome to the class and I will be your instructor for this course. This is a -week course and requires a lot of time commitment, organization, and a high level of dedication. Please use the class syllabus to guide you through all the assignments required for the course. I have also attached the classroom policies to this announcement to know your expectations for this course. Please review this document carefully and ask me any questions if you do. You could email me at any time or send me a message via the “message” icon in halo if you need to contact me. I check my email regularly, so you should get a response within 24 hours. If you have not heard from me within 24 hours and need to contact me urgently, please send a follow up text to

I strongly encourage that you do not wait until the very last minute to complete your assignments. Your assignments in weeks 4 and 5 require early planning as you would need to present a teaching plan and interview a community health provider. I advise you look at the requirements for these assignments at the beginning of the course and plan accordingly. I have posted the YouTube link that explains all the class assignments in detail. It is required that you watch this 32-minute video as the assignments from week 3 through 5 require that you follow the instructions to the letter to succeed. Failure to complete these assignments according to instructions might lead to a zero. After watching the video, please schedule a one-on-one with me to discuss your topic for your project by the second week of class. Use this link to schedule a 15-minute session. Please, call me at the time of your appointment on my number. Please note that I will NOT call you.

Please, be advised I do NOT accept any assignments by email. If you are having technical issues with uploading an assignment, contact the technical department and inform me of the issue. If you have any issues that would prevent you from getting your assignments to me by the deadline, please inform me to request a possible extension. Note that working fulltime or overtime is no excuse for late assignments. There is a 5%-point deduction for every day your assignment is late. This only applies to approved extensions. Late assignments will not be accepted.

If you think you would be needing accommodations due to any reasons, please contact the appropriate department to request accommodations.

Plagiarism is highly prohibited. Please ensure you are citing your sources correctly using APA 7th edition. All assignments including discussion posts should be formatted in APA with the appropriate spacing, font, margin, and indents. Any papers not well formatted would be returned back to you, hence, I advise you review APA formatting style. I have attached a sample paper in APA format and will also post sample discussion responses in subsequent announcements.

Your initial discussion post should be a minimum of 200 words and response posts should be a minimum of 150 words. Be advised that I grade based on quality and not necessarily the number of words you post. A minimum of TWO references should be used for your initial post. For your response post, you do not need references as personal experiences would count as response posts. If you however cite anything from the literature for your response post, it is required that you cite your reference. You should include a minimum of THREE references for papers in this course. Please note that references should be no more than 5 years old except recommended as a resource for the class. Furthermore, for each discussion board question, you need ONE initial substantive response and TWO substantive responses to either your classmates or your instructor for a total of THREE responses. There are TWO discussion questions each week, hence, you need a total minimum of SIX discussion posts for each week. I usually post a discussion question each week. You could also respond to these as it would count towards your required SIX discussion posts for the week.

I understand this is a lot of information to cover in 5 weeks, however, the Bible says in Philippians 4:13 that we can do all things through Christ that strengthens us. Even in times like this, we are encouraged by God’s word that we have that ability in us to succeed with His strength. I pray that each and every one of you receives strength for this course and life generally as we navigate through this pandemic that is shaking our world today. Relax and enjoy the course!

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
• The is a great resource

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.