This page is dedicated to organizing various examples of standardized exam questions whose answer is Prader-Willi syndrome. While this may seem a odd practice, it is useful to see multiple examples of how Prader-Willi syndrome will be characterized on standardized exams (namely the boards and the shelf exams). This page is not meant to be used as a traditional question bank (as all of the answers will be the same), however seeing the classic “test” characterization for a disease is quite valuable.
KEY CHARACTERISTICS OF THIS CONDITION (ON EXAMS)
When it comes to standardized exams, each condition has its own “code” marked by key buzzwords, lab findings, clues, etc. If you are well versed in this code you will be able to more quickly identify the condition that is being discussed, and get the right answer on the exam you are taking. Below is the “code” for Prader-Willi syndrome.
- Hyperphagia: affected individuals eat excessively and are obese
- Intellectual disability
Question # 1
Explanation # 1
Question # 2
Explanation # 2
TESTABLE FACTS ABOUT THIS CONDITION (BEYOND ITS IDENTIFICATION)
Many questions on standardized exams go beyond simply recognizing the underlying condition. Often there are specific testable facts regarding some aspect of the disease’s pathophysiology/management/clinical implications that are commonly asked. Some of these are listed below:
- Cause: maternal imprinting (inactivation) of gene and paternal gene is silent/mutated. Sometimes 2 maternally imprinted genes are received.
- Chromosome of abnormality: 15
- Ghrelin is increased in these patients (which explains their hunger)
Page Updated: 04.15.2017