The purpose of this N512 Assignment 1 fragile X-associated mental retardation 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 4-5 pages, which does not include the cover page and reference page(s).
Lisa Anderson, a 22 y.o., 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. N512 Assignment 1 fragile X-associated mental retardation
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Please use the following headings/subheadings as a guide to draft your paper:
Introduction (including a brief purpose statement)
Identify the genetic mutation responsible for fragile X-associated mental retardation.
Describe and discuss how it causes the clinical syndrome of developmental delay, joint hyperextensibility, large testes, and facial abnormalities.
Identify which parent is the probable carrier of the genetic mutation?
Explain why this parent and the grandparents are phenotypically unaffected.
Discuss the likelihood that the unborn child will be affected? N512 Assignment 1 fragile X-associated mental retardation
In regards to APA format, please use the following as a guide:
Include a cover N512 Assignment 1 fragile X-associated mental retardation page and running head (this is not part of the 4-5 page limit)
Include transitions in your paper (i.e. headings or subheadings)
Use in-text references throughout the paper
Use double space, 12 point Times New Roman font
Spelling, grammar, and organization are appropriate
Include a reference list (this is not part of the 4-5 page limit)
Attempt to use primary sources only. That said, you may cite reliable electronic sources (i.e. ANA) N512 Assignment 1 fragile X-associated mental retardation
Assignment 1 Rubric
Content: Application & Analysis
Responds correctly and/or appropriately to all questions and criteria. Content is excellent.
Demonstrates a high level of critical thinking, shows significant insight or creative thought about the topic, and does not merely recite the text/resources. Uses concepts and terminology correctly. Detail rich and specific.
Responds correctly and/or appropriately to all questions and criteria. Content is good.
Demonstrates some critical thinking throughout the paper and may also show some insight or creative thinking about the topic. Mostly uses concepts and terminology correctly (1-2 issues). Minor detail inconsistencies (1-2).
Responds correctly and/or appropriately to at least one question OR if only one question, partially responds to question. Does not address all criteria. Content is minimal.
Demonstrates at least one critical thinking skill in the paper. Attempts to use concepts and terminology correctly. Several detail inconsistencies (3-5).
Paper is unclear and does not address the questions and/or criteria. Content does not meet requirements. Many inconsistencies and conflicting information (6+).
Quality: Supporting Research & Sources
All work is accurately cited (where applicable) and appropriately supports content with research, text, multimedia, and/or other resources. References are relevant and enhance the topic. Most of the work is accurately cited (where applicable) and adequately supports content with research, text, and/or resources. One issue with reference or use of one inappropriate reference. References are relevant to the topic. 2-3 issues with references, including the use of inappropriate references to support content. May fail to provide references to support content. 1-2 references are not relevant to the topic and/or distract from the topic at hand. 4 or more issues with references, including the use of inappropriate references to support content OR failure to include references (where applicable). No supporting references are used OR they are used but 3+ references are not relevant to the topic. /20
N512 Assignment 1 fragile X-associated mental retardation
Paper is well-organized. Ideas are clear and arranged logically. Transitions are smooth, no flaws in logic. Paper is organized. Ideas are usually clear and arranged in an acceptable sequence (1-2 issues). Transitions are usually smooth (1-2 issues), good support. Paper lacks organization. There are many problems with the approach (3-5 issues with organization). Some difficulty understanding ideas. Issues with support and transitions (3-5). Paper is poorly organized and difficult to understand. Many issues with support and transitions (6+). Ideas are arranged illogically and do not make sense. /10
Accuracy & Basic Writing Mechanics
Error-free, including APA formatting, reflecting clear understanding of various forms of expression and careful editing. Very few (less than 3) errors in spelling, grammar, syntax, and/or punctuation. Very few (less than 3) issues with APA formatting. Occasional poor choice of word. 4-5 errors in spelling, grammar, syntax, and/or punctuation. 4-5 issues with APA Formatting. Writing may be difficult to understand at times. N512 Assignment 1 fragile X-associated mental retardation More than 5 errors in spelling, grammar, syntax, and/or punctuation. Many (6+ issues with APA formatting. Writing is difficult to understand in many instances.
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