Discussion: Developmental delay and small joint hyperextensibility

Discussion: Developmental delay and small joint hyperextensibility

Discussion: Developmental delay and small joint hyperextensibility

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.

Please use the following headings/subheadings as a guide to draft your paper:

1. Introduction (including a brief purpose statement)
2. Identify the genetic mutation responsible for fragile X-associated mental retardation.
3. Describe and discuss how it causes the clinical syndrome of developmental delay, joint hyperextensibility, large testes, and facial abnormalities.
4. Identify which parent is the probable carrier of the genetic mutation?
5. Explain why this parent and the grandparents are phenotypically unaffected.
6. Discuss the likelihood that the unborn child will be affected?
7. Conclusion

In regards to APA format, please use the following as a guide:

• Include a cover 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)

You must proofread your paper. But do not strictly rely on your computer’s spell-checker and grammar-checker; failure to do so indicates a lack of effort on your part and you can expect your grade to suffer accordingly. Papers with numerous misspelled words and grammatical mistakes will be penalized. Read over your paper – in silence and then aloud – before handing it in and make corrections as necessary. Often it is advantageous to have a friend proofread your paper for obvious errors. Handwritten corrections are preferable to uncorrected mistakes.

Use a standard 10 to 12 point (10 to 12 characters per inch) typeface. Smaller or compressed type and papers with small margins or single-spacing are hard to read. It is better to let your essay run over the recommended number of pages than to try to compress it into fewer pages.

Likewise, large type, large margins, large indentations, triple-spacing, increased leading (space between lines), increased kerning (space between letters), and any other such attempts at “padding” to increase the length of a paper are unacceptable, wasteful of trees, and will not fool your professor.

The paper must be neatly formatted, double-spaced with a one-inch margin on the top, bottom, and sides of each page. When submitting hard copy, be sure to use white paper and print out using dark ink. If it is hard to read your essay, it will also be hard to follow your argument.