Lisa Anderson, a 22-year-old Caucasian single parent, is referred for genetic counseling by her pediatric Nurse Practitioner. She has a 3-year-old boy with developmental delay and small joint hyperextensibility. The pediatric Nurse Practitioner has diagnos 

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ORDER A Lisa Anderson, a 22-year-old Caucasian single parent, is referred for genetic counseling by her pediatric Nurse Practitioner. She has a 3-year-old boy with developmental delay and small joint hyperextensibility. The pediatric Nurse Practitioner has diagnos PAPER TODAY!

Lisa Anderson, a 22-year-old Caucasian single parent, is referred for genetic counseling by her pediatric Nurse Practitioner. She has a 3-year-old boy with developmental delay and small joint hyperextensibility. The pediatric Nurse Practitioner has diagnos
Lisa Anderson, a 22-year-old Caucasian single parent, is referred for genetic counseling by her pediatric Nurse Practitioner. She has a 3-year-old boy with developmental delay and small joint hyperextensibility. The pediatric Nurse Practitioner has diagnos

Assignment 1

Overview

The purpose of this paper is to address the following clinical scenario with the use of your textbook, external credible literature, and/or reliable electronic sources. Use the guide below to draft your paper and review the rubric to ensure you have met the assignment criteria. The expected length of the paper is approximately 3-4 pages, which does not include the cover page and reference page(s).

Lisa Anderson, a 22-year-old Caucasian single parent, is referred for genetic counseling by her pediatric Nurse Practitioner. She has a 3-year-old boy with developmental delay and small joint hyperextensibility. The pediatric Nurse Practitioner has diagnosed fragile X-associated mental retardation. She is currently pregnant with her second child at 14 weeks of gestation. The family history is unremarkable.

Instructions

Please answer the following questions. Choose the headings/subheadings as described below.  You should begin your paper with a one paragraph introduction that includes the purpose statement.

  • Genetic mutation: Identify the genetic mutation responsible for fragile X-associated mental retardation.
  • Clinical presentation: Describe and discuss how it causes the clinical syndrome of developmental delay, joint hyperextensibility, large testes, and facial abnormalities.
  • Identification of carrier: Identify which parent is the probable carrier of the genetic mutation?
  • Phenotypic effects explained: Explain why this parent and the grandparents are phenotypically unaffected. Include a discussion of how this disease impacts the family across the lifespan.
  • Likelihood for affecting future children: Discuss the likelihood that the unborn child will be affected.

VII. Conclusion—end with a one paragraph conclusion

 

Please follow the instructions below to meet APA formatting requirements

  1. Include a cover page and running head (this is not part of the 3-4 page limit)
  2. Include transitions in your paper (i.e. headings or subheadings—see the bolded suggestions above)
  3. Use in-text references throughout the paper
  4. Use double space, 12 point Times New Roman font
  5. Spelling, grammar, and organization are appropriate
  6. Include a reference list (this is not part of the 3-4 page limit)

Attempt to use primary sources only. That said, you may cite reliable electronic sources (i.e. ANA)

A

Assignment 1 Rubric

Introduction & Identification of Genetic Mutation

  1. An introduction paragraph with the purpose statement is present. Synthesizes readings & resources to describe the genetic mutation.
  2. An introduction paragraph with the purpose statement is present. Includes readings & resources in a discussion describing the genetic mutation.
  3. An introduction paragraph with the purpose statement is present. Discussion of the genetic mutation is unclear or missing.
  4. No introduction paragraph with a purpose statement or no explanation of the genetic mutation is present.

/18

 

ORDER A Lisa Anderson, a 22-year-old Caucasian single parent, is referred for genetic counseling by her pediatric Nurse Practitioner. She has a 3-year-old boy with developmental delay and small joint hyperextensibility. The pediatric Nurse Practitioner has diagnos PAPER TODAY!

 

Discussion of clinical presentation

  • Describes how the disorder causes the clinical presentation of the following syndromes: developmental delay, joint hyperextensibility, large testes, and facial abnormalities.
  • Describes how the disorder causes the clinical presentation of only 3 of the syndromes.
  • Describes how the disorder causes the clinical presentation of only 2 of the syndromes
  • Describes how the disorder causes the clinical presentation of less than 2 syndromes

/18

 

  • Identification & explanation of carrier
  • Synthesizes information in the readings & the patient case study to explain the probable carrier
  • Synthesizes information in the readings to explain the probable carrier without individualizing to the patient case study
  • Lists information in the readings to explain the probable carrier
  • No discussion of the probable carrier

/18

 

  • Discussion of phenotype expression & impact of disorder across the lifespan
  • Synthesizes readings & patient case study data to explain the phenotype expression & impact of the disorder across the lifespan
  • Describes readings & patient case study data to explain the phenotype expression & impact of the disorder across the lifespan
  • Lists patient case study data to explain the phenotype expression & impact of the disorder across the lifespan
  • No discussion of phenotype expression or impact of disorder across the lifespan

 

/18

Likelihood of disorder for future generations

  • Synthesizes patient data & an understanding of the disorder to describe the likelihood of future generations being affected. Includes a description of the specific genetic transmission percentages dependent on gender.
  • Describes an understanding of the disorder to describe the likelihood of future generations being affected without individualizing the discussion to this patient case study. Includes a description of the specific genetic transmission percentages dependent on gender.
  • Describes an understanding of the disorder to describe the likelihood of future generations being affected without individualizing the discussion to this patient case study. No description of the specific genetic transmission percentages dependent on gender is discussed.
  • No discussion of future generation genetic transmission.

/18

 

APA,

  • Grammar, spelling, and punctuation
  • No errors in APA, grammar, spelling, and punctuations
  • One to three errors in APA, grammar, spelling, and punctuation.
  • Four to six errors in APA, grammar, spelling, and punctuation.
  • Seven or more errors in APA, spelling, and punctuation.
  • The submission does not meet format guidelines.

Step 2: Summary of Analysis:

  • Craft a summary (2-3 paragraphs) below that includes the following:
  • Describe your approach to identifying and analyzing peer-reviewed research
  • Identify at least two strategies that you would use that you found to be effective in finding peer-reviewed research
  • Identify at least one resource you intend to use in the future to find peer-reviewed research