Nokea
This model for presymptomatic testing is most likely being used to address what disease?
- A. Alzheimers disease
- B. Huntington disease
- C. Tay-Sachs disease
- D. Sickle cell disease
Correct Answer: B
Rationale: Huntington disease has served as the model for presymptomatic testing because the presence of the genetic mutation predicts disease onset and progression. This is not typically the case for Alzheimer's, Tay-Sachs, or sickle cell disease with current testing technologies.
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Which of the following is the most important factor documented in the patients genetic history?
- A. Three generations of information about the family
- B. Current medications taken
- C. Health problems present in the womans children
- D. Immunizations received for the past three generations
Correct Answer: A
Rationale: A well-documented family history is a tool used by the health care team to make a diagnosis, identify teaching strategies, and establish a pattern of inheritance. The family history should include at least three generations, as well as information about the current and past health status of all family members, including the age of onset of any illnesses and cause of death and age at death. Medications and immunizations are part of the general health history, not specifically the genetic history.
Based on this information, what does the nurse suspect?
- A. Huntington disease
- B. Schizophrenia
- C. Cerebrovascular accident
- D. Alzheimers disease
Correct Answer: D
Rationale: Nurses must be alert for family histories indicating that multiple generations are affected with the same condition or that onset of disease is earlier than expected. The patient's symptoms of forgetfulness, jerky movements, and a family history of early-onset memory loss in her mother suggest Alzheimer's disease, which can have a genetic component, especially with early onset. Huntington disease involves more pronounced movement disorders, schizophrenia is less likely given the physical symptoms, and there is no evidence of a cerebrovascular accident.
What sign should the nurse instruct the woman to look for in the new baby?
- A. Increased urination
- B. Projectile vomiting
- C. Caf-au-lait spots
- D. Xanthoma
Correct Answer: C
Rationale: Physical assessment may provide clues that a particular genetic condition is present. For neurofibromatosis type 1, skin findings like caf-au-lait spots are a key indicator. Increased urination might suggest diabetes, projectile vomiting could indicate pyloric stenosis, and xanthomas are associated with hyperlipidemia, not neurofibromatosis.
This nurse has consequently completed the first step in what process?
- A. Establishing the pattern of inheritance
- B. Influencing the clients genetic future
- C. Answering the clients genetic questions
- D. Answering the clients relational questions
Correct Answer: A
Rationale: Nursing assessment of the patient's health includes obtaining and recording family history information in the form of a pedigree. This is a first step in establishing the pattern of inheritance. It does not directly answer questions or influence genetic outcomes.
What should the nurse do?
- A. Call the patients brother and inform him of his risk for development of Alzheimers disease.
- B. Notify the geneticist and have him instruct the patient on his siblings and parents risk.
- C. Notify the siblings physicians about the patients risk for development of Alzheimers disease.
- D. Instruct the patient on the importance of notifying the siblings and keep his information confidential.
Correct Answer: D
Rationale: The nurse must honor the patient's wishes while explaining the potential benefit this information may have for other family members. Breaching confidentiality by contacting siblings or their physicians is unethical. Involving a geneticist may be helpful, but the primary action is to respect the patient's confidentiality while encouraging disclosure.