DNP 810 Topic 3 Case Study: Part Two

DNP 810 Topic 3 Case Study: Part Two

Case #2 Huntington’s Disease

Chromosomal Analysis of the Disorder

Huntington’s disease or better known as Huntington chorea (HD) is a genetic and progressive disorder that affects the central nervous system (CNS) of human subjects. The disorder is readily characterized by cognitive and psychiatric as well as motor abnormalities in patients (Roos, Wiklund & Laurell, 2017). Patients diagnosed with the disorder are also likely to experience respiratory symptoms, especially, complications related to aspiration. HD is chromosomal as it is an autosomal-dominant inherited disorder caused by replication in the DNA strand of a susceptible person (Rodríguez-Quiroga et al., 2013). This neurodegenerative disorder 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 people with the Huntingtin gene. Basically, HD is a disease linked to multiple number of repeats of CAG in the chromosome of patients with the The disease progresses to central nervous system causing jerky and semi purposive movements of the trunk, limbs or face of the affected persons (Squitieri et al., 2016). The outcome leads to psychiatric illnesses in a person usual recognized in the form of cognitive and behavioral dysfunction.

Causes of the Disorder

Huntington’s disease starts as a mutation which encodes genes in the chromosome of a person. Gene mutation then occurs leading to a repetition of protein that encodes the Huntingtin (HTT) protein (Roos, Wiklund & Laurell, 2017). As such, HD is an inherited condition with an autosomal dominant factor transmission mechanism that affects both males and females. The susceptibility to the infection varies across families as the onset can occur between age 35 and 45 years (Baine, Krause & Greenberg, 2016). However, children of parents having Huntington’s gene are at a 50% chance of developing the condition. The onset of HD is common between the ages of 25 and 45 years though it also occurs among people in the range of 3 to 70 years. The condition affects people of all races across the world with between 30 and 40 individuals affected in the western population (Roos, Wiklund & Laurell, 2017). Besides, the disease is estimated to affect 5 to 10 per 100,000 person implying that about 189,700 people have the condition across the world (Rodríguez-Quiroga et al., 2013).

HD is identified by rapid to non-patterned and semi purposeful choreiform movement. At the onset stages, Huntington’s’ disease tends to be segmented or focal but later progresses to affect other parts of the body. Often, oculomotor abnormalities, dysarthria and gait disturbance are major common features of the disorder. Notably, atypical motor symptoms have been reported to be the initial manifestation of the condition in patients (Squitieri et al., 2016). People with the disorder also develop spinocerebellar ataxias (SCAs) which masquerade as cognitive impairment to patients.

Origin of Huntington’s Disease

According to Squitieri et al. (2016), HD is a gene inherited disorder and it is majorly associated with Huntingtin protein. Molecular analysis of HTT gene also confirms an abnormally in CAG repeat which affirms a diagnosis of HD in a patient. In essence, HTT protein is a major determining factor in the development of Huntington’s disease in a person (Rodríguez-Quiroga et al., 2013). In other approaches, molecular studies involving SCA rated as 1, 2, 3, 6, 8, 17 and dentatorubropallidolusyian atrophy (DRPLA) shows that Huntington’s disease-like genes (HDL2) are expanded in alleles of carriers thereby providing a basis for the development of a diagnosis (Baine, Krause & Greenberg, 2016). The manifestations of the HD are also predominant for people with HDL2 phenocopies. Considerably, HTT aggravates autosomonal recessive disorder in HD patients making them manifest symptoms such as ataxia, dystonia, dysarthria and mental deterioration (Roos, Wiklund & Laurell, 2017).

The signs and symptoms presented by the patients can provide a basis for patient health intervention involving care education. A care provider will use the outcomes to evaluate the mental function of a patient before formulating a therapy plan. Most often, patients with HD manifest cognitive impairment and this can appear as dementia in adults (Baine, Krause & Greenberg, 2016). Counseling plans should therefore focus on the mental deterioration of a patient and offer workable solutions that do not require the clients to remember.

Notably, treatment of the condition is combined with neurological evaluation to examine the onset of involuntary movement of a patient (Squitieri et al., 2016). The investigation is made by asking patients if they experienced involuntary movement of the upper, lower or both of the limbs over the past six months (Roos, Wiklund & Laurell, 2017). Patients are also asked about their inability to undertake normal activities since the onset of the disease. The approach guides in the provision of medication that address both the neurologic conditions and HD in patients (Baine, Krause & Greenberg, 2016). Generally, genetic counseling is recommended to patients at risk of Huntington’s disease especially when family members also manifest the disease. The approach enables them to understand the level of their susceptibility so that the take precautions accordingly.

Gene Mutation of the Disease

The gene mutation of HD encodes the protein HTT which results in replication of alleles in the chromosome of a susceptible patient. Replications for HD is abnormal as it exceeds the average value of 28 (Squitieri et al., 2016). Beyond this number, the gene multiplies

at a higher rate and this reflects the pattern of the disease in patients. Ideally, HD can be named depending on the variation of the age of replication of the protein (Squitieri et al., 2016). If the mutation and replication occur in a patient at the age of 50 years and beyond, then it is considered as late-onset HD. The latter affects about 25% of the cases developing the condition (Rodríguez-Quiroga et al., 2013). On the other hand, if the replication occurs in a person before the age of 20 years, then the condition is classified as juvenile HD. The latter represents about 10% of HD cases globally. From these illustrations, it is clear that HD is prevalent among older people (Roos, Wiklund & Laurell, 2017). In this regard, HD can as well be masked by dementia and therefore there is a need to assess the condition amicably to formulate relevant intervention to a patient.

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

References

Baine, F. K., Krause, A., & Greenberg, L. J. (2016). The frequency of Huntington disease and Huntington disease-like 2 in the South African population. Neuroepidemiology, 46(3), 198-202. .

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.

Roos, A. K., Wiklund, L., & Laurell, K. (2017). Discrepancy in prevalence of Huntington’s disease in two Swedish regions. Acta Neurologica Scandinavica, 136(5), 511-515.

Squitieri, F., Griguoli, A., Capelli, G., Porcellini, A., & D’alessio, B. (2016). Epidemiology of Huntington disease: first post‐HTT gene analysis of prevalence in Italy. Clinical genetics, 89(3), 367-370.

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:

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.