Duchenne muscular dystrophy.

SIGNATURE ASSIGNMENT - Genetics Case Presentation Paper CLOs 1-6

Purpose: This signature assignment gives each student the opportunity to explore and create a case study for a chosen genetic disorder. Using a case study format, the assignment should: describe the clinical presentation, explore appropriate testing for genetics and work-up of clinical symptoms, analyze any subsequent co-morbidities, formulate patient and family education and counseling, and develop the course of treatment based on evidence-based guidelines and provide information local/regional genetic testing center. The first step in this assignment is to create a case study. If you have not had experience in creating a case study, here are a few helpful tips on what it is:

Case studies:

 • are written summaries or syntheses of real-life cases based upon data and research

 • require you to isolate and think through the key issues involved against both theory and the larger comparative environment

 • identify appropriate strategies for the resolution of the 'case'

 • weigh the pros and cons of the remedial options/strategies

 • recommend and present a rationale for the best resolution

The genetics case study paper should be 8-10 pages in length (excluding title page, references, and appendices) per the APA Publication Manual (7 th ed.) and should include the following sections (*Hint: label each section heading and answer the questions within your scholarly paper.):

1. Introduction: Discuss the disorder

a. Epidemiology

b. Prevalence/Statistics

 c. Genetics

d. Symptoms

e. Lab results

f. Genetic testing/diagnostic testing

g. Complications or potential complications

h. Treatment

 i. Prognosis

2. Present your “patient” profile (Case Study through #5)

a. Patient history

 b. Family history (at least 3 generations if all possible)

 c. Social history (living situation, work/school status, habits such as smoking, alcohol intake, illicit drug use, diet)

d. Social support

 e. Symptoms, duration of symptoms

f. Test/diagnostic results, genetic testing (if available)

g. Current state of health

h. Medication including vitamins and supplements

 i. Draw a pedigree for a genetic disorder with appropriate symbols and notations using a family history

 j. Given parental genotypes, identify the possible gametes and make Punnett squares to determine the genotypic and phenotypic ratios of predicted offspring.

k. Construct pedigrees and be able to distinguish patterns of inheritance seen in pedigrees such as the differences between autosomal and sex-linked and recessive and dominant patterns of inheritance

3. Present your patient’s and family’s knowledge about:

a. Diagnosis

b. Treatment

c. Diet and exercise

d. Exercise

e. Lifestyle modifications

f. Follow-up for possible complications and what to watch for g. Prognosis

4. Treatment Plan

 a. For patient and family

5. Recommendations for Education

 a. Need for family and patient education ((including level of health literacy)

6. Referrals and Additional Follow-up

*Minimal APA style and formatting includes:

 1. Running head

 2. Title page

3. Introduction (an abstract is not required)

 4. Body of paper with appropriate levels of headings

 5. Conclusion

 6. Matching in-text citations to References list

7. References list
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