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1. The genetic marker of Rett syndrome is a loss of function mutation of which gene on the X chromosome?

A. ABCC1, which encodes for multidrug resistance-associated protein B. ABCB1, which encodes for P-glycoprotein C. MECP1, which encodes for the methyl-CpG binding protein-1 D. MECP2, which encodes for the methyl-CpG binding protein-2 E. Unsure

2. As a disease primarily dependent on a genetic mutation that affects mostly female individuals, which of the following best describes the genetic inheritance of Rett syndrome?

A. X-linked dominant inheritance B. X-linked recessive inheritance C. Autosomal dominant inheritance D. Autosomal recessive inheritance E. Unsure

3. Which of the following is one of the main inclusion criteria when diagnosing Rett syndrome?

A. Grossly abnormal psychomotor development in first 6 months of life B. Inappropriate laughing/screaming spells C. Partial or complete loss of acquired purposeful hand skills D. Diminished response to pain E. Unsure

4. When using pharmacotherapy to manage the myriad symptoms associated with Rett syndrome, clinicians often look for drugs that can address more than 1 symptom. Seizures are one of the more common comorbidities in Rett syndrome and affect up to 90% of patients. Which of the following antiseizure medications has shown beneficial effects on the breathing irregularities that are common in Rett syndrome?

A. Topiramate B. Valproate C. Lamotrigine D. Levetiracetam E. Unsure

5. Which of the following best describes the mechanism of action of trofinetide?

A. Purported to interact with the MECP2 gene to boost production of the protein, MeCP2 B. Purported to act as an MeCP2 agonist to improve neuronal function C. Purported to act as a sigma-1 receptor agonist to increase cholinergic activity D. Purported to act as an insulin-like growth factor-1 (IGF-1) analogue with anti-inflammatory and antioxidant activity E. Unsure

6. Which of the following statements most accurately describes dose administration and frequency of the pipeline agents for Rett syndrome?

A. Trofinetide, once daily via oral suspension B. Trofinetide, twice daily via oral capsule C. Blarcamesine, once daily via oral solution D. Blarcamesine, twice daily via oral solution E. Unsure

7. Patients with Rett syndrome are prone to a range of comorbidities, some of which can be exacerbated by the adverse-event (AE) profiles of prescription drugs. Medications with which of the following cardiovascular AEs should be avoided particularly in patients with Rett syndrome?

A. QTc interval prolongation B. Bradycardia C. Hypertension D. Hypotension E. Unsure

8. Most individuals with Rett syndrome exhibit MECP2 mutations and others do not present with such mutations. In addition, some people with MECP2 mutations do not develop Rett syndrome. Therefore, which type of diagnosis is used for Rett syndrome?

A. Genetic diagnosis B. Clinical diagnosis C. Laboratory diagnosis D. Testing diagnosis E. Unsure

9. A 20-month-old girl is being evaluated by a pediatrician for developmental delays. Her mother explains that her child has needed more assistance eating in the past few weeks. Her mother also describes how there have been many instances when her child does not appear to know how to use her sippy cup. In addition, at times she and her husband need to work harder to get her daughter's attention. Lastly, the mother is worried because it seems her daughter is not saying as many words or making noises the way she used to. On examination, the child is found to have a slightly reduced head size for her age, appears to not notice or make minimum eye contact with the examiner, is unable to pick up the examination toys because she is preoccupied with the twirling of her hands, and does not make any vocalizations. She is panting and often rocking back and forth while seated. What stage of Rett syndrome best describes the current stage of this child?

A. Stage IV B. Stage II C. Stage Ia D. Stage Ib E. Unsure

10. Parents of a child with Rett syndrome ask you to discuss some of the more common comorbidities with them so that they can be more prepared if and when they do occur with their child. What is the best answer regarding common comorbidities that occur in a child with Rett syndrome?

A. Frequent urinary tract infections, allergies, and bronchitis B. Sleep problems, constipation, and scoliosis C. Headaches, 1-sided weakness, and pneumonias D. Dermatologic rashes, immunodeficiencies, and kidney stones E. Unsure

Maintenance is scheduled for 8/7/2023 7:00 AM EST - 8:00 AM EST.

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1. The genetic marker of Rett syndrome is a loss of function mutation of which gene on the X chromosome?

2. As a disease primarily dependent on a genetic mutation that affects mostly female individuals, which of the following best describes the genetic inheritance of Rett syndrome?

3. Which of the following is one of the main inclusion criteria when diagnosing Rett syndrome?

5. Which of the following best describes the mechanism of action of trofinetide?

6. Which of the following statements most accurately describes dose administration and frequency of the pipeline agents for Rett syndrome?

7. Patients with Rett syndrome are prone to a range of comorbidities, some of which can be exacerbated by the adverse-event (AE) profiles of prescription drugs. Medications with which of the following cardiovascular AEs should be avoided particularly in patients with Rett syndrome?

8. Most individuals with Rett syndrome exhibit MECP2 mutations and others do not present with such mutations. In addition, some people with MECP2 mutations do not develop Rett syndrome. Therefore, which type of diagnosis is used for Rett syndrome?

10. Parents of a child with Rett syndrome ask you to discuss some of the more common comorbidities with them so that they can be more prepared if and when they do occur with their child. What is the best answer regarding common comorbidities that occur in a child with Rett syndrome?

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Maintenance is scheduled for 8/7/2023 7:00 AM EST - 8:00 AM EST.

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1. The genetic marker of Rett syndrome is a loss of function mutation of which gene on the X chromosome?

2. As a disease primarily dependent on a genetic mutation that affects mostly female individuals, which of the following best describes the genetic inheritance of Rett syndrome?

3. Which of the following is one of the main inclusion criteria when diagnosing Rett syndrome?

5. Which of the following best describes the mechanism of action of trofinetide?

6. Which of the following statements most accurately describes dose administration and frequency of the pipeline agents for Rett syndrome?

7. Patients with Rett syndrome are prone to a range of comorbidities, some of which can be exacerbated by the adverse-event (AE) profiles of prescription drugs. Medications with which of the following cardiovascular AEs should be avoided particularly in patients with Rett syndrome?

8. Most individuals with Rett syndrome exhibit MECP2 mutations and others do not present with such mutations. In addition, some people with MECP2 mutations do not develop Rett syndrome. Therefore, which type of diagnosis is used for Rett syndrome?

10. Parents of a child with Rett syndrome ask you to discuss some of the more common comorbidities with them so that they can be more prepared if and when they do occur with their child. What is the best answer regarding common comorbidities that occur in a child with Rett syndrome?

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