Page Contents
OVERVIEW
This page is dedicated to organizing various examples of standardized exam questions whose answer is Rett disorder (Rett syndrome). While this may seem a odd practice, it is useful to see multiple examples of how Rett disorder will be characterized on standardized exams (namely the boards and the shelf exams). This page is not meant to be used as a tradition 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 topic 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 Rett disorder.
- Young girls (~18 months to 5 years old) is the typical patient demographic.
- Loss of developmental milestones:
- Motor skills
- Language skills
- Deceleration of head growth
- Hand wringing is a stereotypical movement that is seen in this condition.
QUESTION EXAMPLES
Question # 1
A 28 year old woman brings in her 1 year old daughter to the clinic for evaluation. She is concern that something is wrong with her child and explains that “She used to be such a happy and healthy baby! She could sit on her own and was always babbling. For the past few months she stopped babbling and now can no longer sit up without my help”. The mother has noticed that her daughter twists her hands together “all the time” and that her child has dry, red, and tender skin. Both weight and height are in the 65th percentile. The patient’s head growth has decreased form the 50th to the 35th percentile in the past 3 months. Physical exam reveals that the child is globally hypotonic, and is not able to sit upright without being held. She does not make any eye contact with the physician, and makes no sounds during the exam. The physician notices that the child wrings her hands constantly. What is the most likely diagnosis?
Explanation # 1
Question # 2
Explanation # 2
TESTABLE FACTS ABOUT THIS TOPIC (BEYOND ITS IDENTIFICATION)
Many questions on standardized exams go beyond simply recognizing the underlying topic. Often there are specific testable facts regarding some aspect of the topic’s pathophysiology/management/clinical implications that are commonly asked. Some of these are listed below:
- Cause: de novo mutations in the X-linked MECP2 gene
Page Updated: 09.20.2016