Dnp-810 Case Study Part 2 GCU Down's syndrome

Dnp-810 Case Study Part 2 GCU Down’s syndrome

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Assessment Description

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 another genetic disorder that you 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 for each source be included.
You are required to submit this assignment to LopesWrite. A link to the LopesWrite technical support articles is located in Class Resources if you need 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:

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

Rubric Criteria
Total50 points

Criterion	1. Unsatisfactory	2. Less Than Satisfactory	3. Satisfactory	4. Good	5. Excellent
Causes of the Disorder Causes of the Disorder	0 points Discussion of the causes of the disorder is not present.	8 points Discussion of the causes of the disorder is present but incomplete.	8.8 points Discussion of the causes of the disorder is present but done at a perfunctory level.	9.2 points Discussion of the causes of the disorder is clearly present and convincing. Information presented is from scholarly though dated sources.	10 points Discussion of the causes of the disorder is clearly present and insightful. Information presented is from current scholarly sources.
Analysis of the Gene Mutation Analysis of the Gene Mutation of the Disease, as Well as Whether It Is Acquired or Inherited, and How the Mutation Occurs	0 points Analysis of the gene mutation of the disease, as well as whether it is acquired or inherited, and how the mutation occurs is not presented.	8 points Analysis of the gene mutation of the disease, as well as whether it is acquired or inherited, and how the mutation occurs is presented. Discussion is incomplete.	8.8 points Analysis of the gene mutation of the disease, as well as whether it is acquired or inherited, and how the mutation occurs is presented. Discussion is done at a perfunctory level.	9.2 points Analysis of the gene mutation of the disease, as well as whether it is acquired or inherited, and how the mutation occurs is clearly presented. Discussion is convincing. Information presented is from mostly current scholarly sources, but some outdated sources are used.	10 points Analysis of the gene mutation of the disease, as well as whether it is acquired or inherited, and how the mutation occurs is clearly presented. Discussion is insightful and detailed. Information presented is from current scholarly sources.
Paper Format (Use of appropriate style for the major and assignment) Paper Format (Use of appropriate style for the major and assignment)	0 points Template is not used appropriately, or documentation format is rarely followed correctly.	2 points Appropriate template is used, but some elements are missing or mistaken. A lack of control with formatting is apparent.	2.2 points Appropriate template is used. Formatting is correct, although some minor errors may be present.	2.3 points Appropriate template is fully used. There are virtually no errors in formatting style.	2.5 points All format elements are correct.
Thesis Development and Purpose Thesis Development and Purpose	0 points Paper lacks any discernible overall purpose or organizing claim.	2.8 points Thesis is insufficiently developed or vague; purpose is not clear.	3.08 points Thesis is apparent and appropriate to purpose.	3.22 points Thesis is clear and forecast the development of the paper. It is descriptive and reflective of the arguments and appropriate to the purpose.	3.5 points Thesis is comprehensive. The essence of the paper is contained within the thesis. Thesis statement makes the purpose of the paper clear.
Documentation of Sources (citations, footnotes, references, bibliography, etc., as appropriate to as Documentation of Sources (citations, footnotes, references, bibliography, etc., as appropriate to assignment and style)	0 points Sources are not documented.	2 points Documentation of sources is inconsistent or incorrect, as appropriate to assignment and style, with numerous formatting errors.	2.2 points Sources are documented, as appropriate to assignment and style, although some formatting errors may be present.	2.3 points Sources are documented, as appropriate to assignment and style, and format is mostly correct.	2.5 points Sources are completely and correctly documented, as appropriate to assignment and style, and format is free of error.
Argument Logic and Construction Argument Logic and Construction	0 points Statement of purpose is not justified by the conclusion. The conclusion does not support the thesis. Argument is incoherent and uses noncredible sources.	3.2 points Sufficient justification of thesis is lacking. Argument lacks consistent unity. There are obvious flaws in the logic. Some sources have questionable credibility.	3.52 points Argument is orderly but may have a few inconsistencies. The argument presents minimal justification of the thesis. Argument logically, but not thoroughly, supports the purpose. Sources used are credible. Introduction and conclusion bracket the thesis.	3.68 points Argument shows logical progressions. Techniques of argumentation are evident. There is a smooth progression in support of the thesis from introduction to conclusion. Most sources are authoritative.	4 points Clear and convincing argument that presents persuasive evidence in support of the thesis in a distinctive and compelling manner. All sources are authoritative.
Mechanics of Writing (includes spelling, punctuation, grammar, language use) Mechanics of Writing (includes spelling, punctuation, grammar, language use)	0 points Surface errors are pervasive enough that they impede communication of meaning. Inappropriate word choice and/or sentence construction are used.	2 points Frequent and repetitive mechanical errors distract the reader. Inconsistencies in language choice (register), sentence structure, and/or word choice are present.	2.2 points Some mechanical errors or typos are present but are not overly distracting to the reader. Correct sentence structure and audience-appropriate language are used.	2.3 points Prose is largely free of mechanical errors, although a few may be present. A variety of sentence structures and effective figures of speech are used.	2.5 points Writer is clearly in command of standard, written, academic English.
Description of the Disorder Description of 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	0 points Description of 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 is not presented.	8 points Description of 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 is presented but incomplete.	8.8 points Description of 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 is presented but done at a perfunctory level.	9.2 points Description of 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 is clearly presented and convincing. Information presented is from mostly current scholarly sources, but some outdated sources are used.	10 points Description of 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 is clearly presented, insightful, and detailed. Information presented is from current scholarly sources.
Description of Whether or Not Chromosomal Analysis Is/Was Indicated Description of Whether or Not Chromosomal Analysis Is/Was Indicated	0 points Discussion of whether chromosomal analysis is/was indicated is not present.	4 points Discussion of whether chromosomal analysis is/was indicated is present but incomplete.	4.4 points Discussion of whether chromosomal analysis is/was indicated is present but done at a perfunctory level.	4.6 points Discussion of whether chromosomal analysis is/was indicated is clearly present and convincing. Information presented is from scholarly though dated sources.	5 points Discussion of whether chromosomal analysis is/was indicated is clearly present and insightful. Information presented is from current scholarly sources.

Criterion

1. Unsatisfactory

2. Less Than Satisfactory

3. Satisfactory

4. Good

5. Excellent

Causes of the Disorder

Causes of the Disorder

0 points

Discussion of the causes of the disorder is not present.

8 points

Discussion of the causes of the disorder is present but incomplete.

8.8 points

Discussion of the causes of the disorder is present but done at a perfunctory level.

9.2 points

Discussion of the causes of the disorder is clearly present and convincing. Information presented is from scholarly though dated sources.

10 points

Discussion of the causes of the disorder is clearly present and insightful. Information presented is from current scholarly sources.

Analysis of the Gene Mutation

Analysis of the Gene Mutation of the Disease, as Well as Whether It Is Acquired or Inherited, and How the Mutation Occurs

0 points

Analysis of the gene mutation of the disease, as well as whether it is acquired or inherited, and how the mutation occurs is not presented.

8 points

Analysis of the gene mutation of the disease, as well as whether it is acquired or inherited, and how the mutation occurs is presented. Discussion is incomplete.

8.8 points

Analysis of the gene mutation of the disease, as well as whether it is acquired or inherited, and how the mutation occurs is presented. Discussion is done at a perfunctory level.

9.2 points

Analysis of the gene mutation of the disease, as well as whether it is acquired or inherited, and how the mutation occurs is clearly presented. Discussion is convincing. Information presented is from mostly current scholarly sources, but some outdated sources are used.

10 points

Analysis of the gene mutation of the disease, as well as whether it is acquired or inherited, and how the mutation occurs is clearly presented. Discussion is insightful and detailed. Information presented is from current scholarly sources.

Paper Format (Use of appropriate style for the major and assignment)

Paper Format (Use of appropriate style for the major and assignment)

0 points

Template is not used appropriately, or documentation format is rarely followed correctly.

2 points

Appropriate template is used, but some elements are missing or mistaken. A lack of control with formatting is apparent.

2.2 points

Appropriate template is used. Formatting is correct, although some minor errors may be present.

2.3 points

Appropriate template is fully used. There are virtually no errors in formatting style.

2.5 points

All format elements are correct.

Thesis Development and Purpose

Thesis Development and Purpose

0 points

Paper lacks any discernible overall purpose or organizing claim.

2.8 points

Thesis is insufficiently developed or vague; purpose is not clear.

3.08 points

Thesis is apparent and appropriate to purpose.

3.22 points

Thesis is clear and forecast the development of the paper. It is descriptive and reflective of the arguments and appropriate to the purpose.

3.5 points

Thesis is comprehensive. The essence of the paper is contained within the thesis. Thesis statement makes the purpose of the paper clear.

Documentation of Sources (citations, footnotes, references, bibliography, etc., as appropriate to as

Documentation of Sources (citations, footnotes, references, bibliography, etc., as appropriate to assignment and style)

0 points

Sources are not documented.

2 points

Documentation of sources is inconsistent or incorrect, as appropriate to assignment and style, with numerous formatting errors.

2.2 points

Sources are documented, as appropriate to assignment and style, although some formatting errors may be present.

2.3 points

Sources are documented, as appropriate to assignment and style, and format is mostly correct.

2.5 points

Sources are completely and correctly documented, as appropriate to assignment and style, and format is free of error.

Argument Logic and Construction

Argument Logic and Construction

0 points

Statement of purpose is not justified by the conclusion. The conclusion does not support the thesis. Argument is incoherent and uses noncredible sources.

3.2 points

Sufficient justification of thesis is lacking. Argument lacks consistent unity. There are obvious flaws in the logic. Some sources have questionable credibility.

3.52 points

Argument is orderly but may have a few inconsistencies. The argument presents minimal justification of the thesis. Argument logically, but not thoroughly, supports the purpose. Sources used are credible. Introduction and conclusion bracket the thesis.

3.68 points

Argument shows logical progressions. Techniques of argumentation are evident. There is a smooth progression in support of the thesis from introduction to conclusion. Most sources are authoritative.

4 points

Clear and convincing argument that presents persuasive evidence in support of the thesis in a distinctive and compelling manner. All sources are authoritative.

Mechanics of Writing (includes spelling, punctuation, grammar, language use)

Mechanics of Writing (includes spelling, punctuation, grammar, language use)

0 points

Surface errors are pervasive enough that they impede communication of meaning. Inappropriate word choice and/or sentence construction are used.

2 points

Frequent and repetitive mechanical errors distract the reader. Inconsistencies in language choice (register), sentence structure, and/or word choice are present.

2.2 points

Some mechanical errors or typos are present but are not overly distracting to the reader. Correct sentence structure and audience-appropriate language are used.

2.3 points

Prose is largely free of mechanical errors, although a few may be present. A variety of sentence structures and effective figures of speech are used.

2.5 points

Writer is clearly in command of standard, written, academic English.

Description of the Disorder

Description of 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

0 points

Description of 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 is not presented.

8 points

Description of 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 is presented but incomplete.

8.8 points

Description of 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 is presented but done at a perfunctory level.

9.2 points

Description of 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 is clearly presented and convincing. Information presented is from mostly current scholarly sources, but some outdated sources are used.

10 points

Description of 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 is clearly presented, insightful, and detailed. Information presented is from current scholarly sources.

Description of Whether or Not Chromosomal Analysis Is/Was Indicated

Description of Whether or Not Chromosomal Analysis Is/Was Indicated

0 points

Discussion of whether chromosomal analysis is/was indicated is not present.

4 points

Discussion of whether chromosomal analysis is/was indicated is present but incomplete.

4.4 points

Discussion of whether chromosomal analysis is/was indicated is present but done at a perfunctory level.

4.6 points

Discussion of whether chromosomal analysis is/was indicated is clearly present and convincing. Information presented is from scholarly though dated sources.

5 points

Discussion of whether chromosomal analysis is/was indicated is clearly present and insightful. Information presented is from current scholarly sources.

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Grading Rubric

Performance Category	100% or highest level of performance 100% 16 points	Very good or high level of performance 88% 14 points	Acceptable level of performance 81% 13 points	Inadequate demonstration of expectations 68% 11 points	Deficient level of performance 56% 9 points	Failing level of performance 55% or less 0 points
Total Points Possible= 50	16 Points	14 Points	13 Points	11 Points	9 Points	0 Points
Scholarliness Demonstrates achievement of scholarly inquiry for professional and academic topics.	Presentation of information was exceptional and included all of the following elements: Provides evidence of scholarly inquiry relevant to required TD topic(s). Presents specific information from scholarly sources to develop a comprehensive presentation of facts. Uses at least one outside scholarly reference that is relevant, less than 5 years old (use of older references requires instructor permission) and reliable for the required topic.* Uses in-text citation and full reference at end of posting when presenting another person’s thoughts as quotes or paraphrase of information.	Presentation of information was good, but was superficial in places and included all of the following elements: Provides evidence of scholarly inquiry relevant to required TD topic(s). Presents specific information from scholarly sources to develop a comprehensive presentation of facts. Uses at least one outside scholarly reference that is relevant, less than 5 years old (use of older references requires instructor permission) and reliable for the required topic.* Uses in-text citation and full reference at end of posting when presenting another person’s thoughts as quotes or paraphrase of information.	Presentation of information was minimally demonstrated in all of the following elements: Provides evidence of scholarly inquiry relevant to required TD topic(s). Presents specific information from scholarly sources to develop a comprehensive presentation of facts. Uses at least one outside scholarly reference that is relevant, less than 5 years old (use of older references requires instructor permission) and reliable for the required topic.* Uses in-text citation and full reference at end of posting when presenting another person’s thoughts as quotes or paraphrase of information.	Presentation of information is unsatisfactory in one of the following elements: Provides evidence of scholarly inquiry relevant to required TD topic(s). Presents specific information from scholarly sources to develop a comprehensive presentation of facts. Uses at least one outside scholarly reference that is relevant, less than 5 years old (use of older references requires instructor permission) and reliable for the required topic.* Uses in-text citation and full reference at end of posting when presenting another person’s thoughts as quotes or paraphrase of information.	Presentation of information is unsatisfactory in two of the following elements: Provides evidence of scholarly inquiry relevant to required TD topic(s). Presents specific information from scholarly sources to develop a comprehensive presentation of facts. Uses at least one outside scholarly reference that is relevant, less than 5 years old (use of older references requires instructor permission) and reliable for the required topic.* Uses in-text citation and full reference at end of posting when presenting another person’s thoughts as quotes or paraphrase of information.	Presentation of information is unsatisfactory in three or more of the following elements Provides evidence of scholarly inquiry relevant to required TD topic(s). Presents specific information from scholarly sources to develop a comprehensive presentation of facts. Uses at least one outside scholarly reference that is relevant, less than 5 years old (use of older references requires instructor permission) and reliable for the required topic.* Uses in-text citation and full reference at end of posting when presenting another person’s thoughts as quotes or paraphrase of information
	16 Points	14 Points	13 Points	11 Points	9 Points	0 Points
Application of Course Knowledge Demonstrate the ability to analyze and apply principles, knowledge and information learned in the outside readings and relate them to real-life professional situations	Presentation of information was exceptional and included all of the following elements: Applies principles, knowledge and information from scholarly resources to the required topic. Applies facts, principles or concepts learned from scholarly resources to a professional experience. Application of information is comprehensive and specific to the required topic.	Presentation of information was good, but was superficial in places and included all of the following elements: Applies principles, knowledge and information from scholarly resources to the required topic. Applies facts, principles or concepts learned from scholarly resources to a professional experience. Application of information is comprehensive and specific to the required topic.	Presentation of information was minimally demonstrated in the all of the following elements: Applies principles, knowledge and information from scholarly resources to the required topic. Applies facts, principles or concepts learned from scholarly resources to a professional experience. Application of information is comprehensive and specific to the required topic.	Presentation of information is unsatisfactory in one of the following elements: Applies principles, knowledge and information from scholarly resources to the required topic. Applies facts, principles or concepts learned from and scholarly resources to a professional experience. Application of information is comprehensive and specific to the required topic.	Presentation of information is unsatisfactory in two of the following elements: Applies principles, knowledge and information from scholarly resources to the required topic. Applies facts, principles or concepts learned from scholarly resources to a professional experience. Application of information is comprehensive and specific to the required topic.	Presentation of information is unsatisfactory in three of the following elements Applies principles, knowledge and information and scholarly resources to the required topic. Applies facts, principles or concepts learned scholarly resources to a professional experience. Application of information is comprehensive and specific to the required topic.
	10 Points	9 Points			6 Points	0 Points
Interactive Dialogue Initial post should be a minimum of 300 words (references do not count toward word count) The peer and instructor responses must be a minimum of 150 words each (references do not count toward word count) Responses are substantive and relate to the topic.	Demonstrated all of the following: Initial post must be a minimum of 300 words. The peer and instructor responses must be a minimum of 150 words each. Responses are substantive Responses are related to the topic of discussion.	Demonstrated 3 of the following: Initial post must be a minimum of 300 words. The peer and instructor responses must be a minimum of 150 words each. Responses are substantive Responses are related to the topic of discussion.			Demonstrated 2 of the following: Initial post must be a minimum of 300 words. The peer and instructor responses must be a minimum of 150 words each. Responses are substantive Responses are related to the topic of discussion.	Demonstrated 1 or less of the following: Initial post must be a minimum of 300 words. The peer and instructor responses must be a minimum of 150 words each. Responses are substantive Responses are related to the topic of discussion.
	8 Points	7 Points	6 Points	5 Points	4 Points	0 Points
Grammar, Syntax, APA Points deducted for improper grammar, syntax and APA style of writing. The source of information is the APA Manual 6th Edition Error is defined to be a unique APA error. Same type of error is only counted as one error.	The following was present: 0-3 errors in APA format AND Responses have 0-3 grammatical, spelling or punctuation errors AND Writing style is generally clear, focused on topic,and facilitates communication.	The following was present: 4-6 errors in APA format. AND/OR Responses have 4-5 grammatical, spelling or punctuation errors AND/OR Writing style is somewhat focused on topic.	The following was present: 7-9 errors in APA format. AND/OR Responses have 6-7 grammatical, spelling or punctuation errors AND/OR Writing style is slightly focused on topic making discussion difficult to understand.	The following was present: 10- 12 errors in APA format AND/OR Responses have 8-9 grammatical, spelling and punctuation errors AND/OR Writing style is not focused on topic, making discussion difficult to understand.	The following was present: 13 – 15 errors in APA format AND/OR Responses have 8-10 grammatical, spelling or punctuation errors AND/OR Writing style is not focused on topic, making discussion difficult to understand. AND/OR The student continues to make repeated mistakes in any of the above areas after written correction by the instructor.	The following was present: 16 to greater errors in APA format. AND/OR Responses have more than 10 grammatical, spelling or punctuation errors. AND/OR Writing style does not facilitate communication
	0 Points Deducted					5 Points Lost
Participation Requirements	Demonstrated the following: Initial, peer, and faculty postings were made on 3 separate days					Failed to demonstrate the following: Initial, peer, and faculty postings were made on 3 separate days
	0 Points Lost					5 Points Lost
Due Date Requirements	Demonstrated all of the following: The initial posting to the graded threaded discussion topic is posted within the course no later than Wednesday, 11:59 pm MT. A minimum of one peer and one instructor responses are to be posted within the course no later than Sunday, 11:59 pm MT.					Demonstrates one or less of the following. The initial posting to the graded threaded discussion topic is posted within the course no later than Wednesday, 11:59 pm MT. A minimum of one peer and one instructor responses are to be posted within the course no later than Sunday, 11:59 pm MT.