Case Study Assignment: Lisa Anderson, a 22-year-old Caucasian single parent, is referred for genetic counseling by her pediatric Nurse Practitioner.
Case Study Assignment: Lisa Anderson, a 22-year-old Caucasian single parent, is referred for genetic counseling by her pediatric Nurse Practitioner.
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).
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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
Include a cover page and running head (this is not part of the 3-4 page limit)
Include transitions in your paper (i.e. headings or subheadings—see the bolded suggestions above)
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 3-4 page limit)
Attempt to use primary sources only. That said, you may cite reliable electronic sources (i.e. ANA)
Assignment 1 Rubric
Criteria
18 Points
16 Points
14 Points
0 Points
Earned Points
Introduction & Identification of Genetic Mutation
An introduction paragraph with the purpose statement is present. Synthesizes readings & resources to describe the genetic mutation.
An introduction paragraph with the purpose statement is present. Includes readings & resources in a discussion describing the genetic mutation.
An introduction paragraph with the purpose statement is present. Discussion of the genetic mutation is unclear or missing.
No introduction paragraph with a purpose statement or no explanation of the genetic mutation is present.
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/18
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.
/10
Total
/100
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Fragile X Syndrome
Genetic disorders are a critical concern in not only the US but also all the global states. The chances of genetic mutations occurring in populations are always low. However, their occurrence may be associated with adverse effects that affect the developmental, health and wellbeing of the patients. Fragile X syndrome is one of the rarest genetic mutations that are associated with mental retardation. The risk of fragile X syndrome in males is reported to be 1 in every 7000 while it is 1 in every 11000 for females. Therefore, the purpose of this paper is to explore a case study involving Lisa Anderson, who has brought her 3-year-old boy for genetic counseling for developmental delay and small joint hyperextensibility. The boy has been diagnosed with fragile X syndrome associated with mental retardation. The paper examines topics that include genetic mutation contributing to the disorder, clinical presentation, carriers, likelihood of its occurrence in future children, and phenotypic explanation for the disorder.
Genetic Mutation
Fragile X syndrome is a condition that arises from the mutations of the FMR1 gene. The FMR1 gene plays the role of regulating the functions of the FMRP protein that functions to regulate the development of synapses and the brain. The mutation affects the CGC triplet repeat in the DNA that is normally repeated between 5 to 40 times to be repeated more than 200 times. The abnormal repetition of the CGC segment silences the FMR1 gene to cause inhibition in the production of FMRP protein. The inhibition of FMRP protein also causes methylation and little or no production of FMR1 mRNA. The consequence of the disruption in the production of FMRP protein includes impaired nervous system functioning, hence the symptoms and signs of fragile X syndrome (CDC, 2021). The predominant symptom of fragile X disorder is intellectual disability in 85% of males and 25% of females.
Clinical Presentation
Fragile X syndrome causes developmental delay. As noted above, mutation of the FMR1 genes cause impaired production of FMRP proteins involved in the development of the brain and synapses. The impaired development of brain and synapses causes minimal growth of the white matter of the brain. There is also the alteration of the normal structure of the brain nerve cells that impair the physical activity as well as communication. The impaired nerve system of the brain also leads to minimal or disrupted nerve-to-nerve communication that causes intellectual disabilities and developmental delays. The mutation also alters signaling pathways such as the mGluR5 and elevated release of pathogenic proteins that impair the development process, hence, delayed developmental milestones. Joint hyperextensibility, large testes and facial abnormalities in fragile x syndrome arise from the expansion of the CGG repeats of the FMR1 gene that cause silenced transcription of FMRP protein (Ciaccio et al., 2017). The silencing inhibits the regulation of protein synthesis at the neuronal dendrites, hence, joint hypermobility.
Identification of Carrier
A carrier of fragile x syndrome is an individual that has gene mutation affecting FMR1 gene but does not experience any signs and symptoms of the syndrome. Both men and women can be carriers of fragile X syndrome. Women carriers of fragile x syndrome have 50% risk of giving birth to a children with the syndrome. On the other hand, male carriers transmit the altered gene to all their daughters and none of their sons. Daughters born to carrier males have normal intellectual abilities but are highly at a risk of giving birth to children who are affected by fragile x syndrome (Hagerman et al., 2018). Therefore, the probable carrier in this case is Lisa Anderson.
Phenotypic Effects
Lisa and her grandparents are unaffected by fragile x syndrome. Lisa was unaffected because it is highly likely that she was born to a carrier father. The mother of Lisa’s father could have also been a carrier of fragile x syndrome. As a result, Lisa’s father and grandparents did not demonstrate any symptoms of fragile x syndrome, hence, the finding in Lisa’s son.
Likelihood of Affecting Future Children
As noted above, women carriers have a 50% risk of giving birth to a child with fragile x syndrome. She already has a child with the syndrome. As a result, the risk of her giving birth to a child with fragile x syndrome is minimal (Hagerman et al., 2018). Genetic screening is therefore recommended to rule out any possibilities of the syndrome in the current and future pregnancies.
Conclusion
Fragile x syndrome is a genetic disorder that arises from gene mutation affecting FMR1 genes. The mutation of FMR1 genes affects the normal development of the brain as well as synapse growth. It also affects the normal nerve communication of the brain. The effects include facial malformations and intellectual disabilities. Both males and females can be carriers of fragile x syndrome. As a result, families affected or at risk of the syndrome should receive genetic counseling. Genetic screening may also be offered to those in need. However, ethics of genetic testing and counseling should be considered in practice.
References
CDC. (2021, August 19). How Fragile X Syndrome is Inherited | CDC. Centers for Disease Control and Prevention. https://www.cdc.gov/ncbddd/fxs/inherited.html
Ciaccio, C., Fontana, L., Milani, D., Tabano, S., Miozzo, M., & Esposito, S. (2017). Fragile X syndrome: A review of clinical and molecular diagnoses. Italian Journal of Pediatrics, 43(1), 39. https://doi.org/10.1186/s13052-017-0355-y
Hagerman, R. J., Protic, D., Rajaratnam, A., Salcedo-Arellano, M. J., Aydin, E. Y., & Schneider, A. (2018). Fragile X-Associated Neuropsychiatric Disorders (FXAND). Frontiers in Psychiatry, 9, 564. https://doi.org/10.3389/fpsyt.2018.00564