Her mother brings a 13-month-old girl to the workplace. She is concerned that something is wrong and recalls, "My kid used to sit alone and enjoy chatting and clapping her hands. She still plays with her sisters and enjoys snuggles, but she hasn't babbled as much in the last three months and can't sit without my assistance. I can't persuade her to quit twisting her hands together. I'm concerned that her hands' skin is turning red, dry, and uncomfortable." Both my weight and height are in the 60th percentile. However, the patient's head growth has dropped from the 50th to the 40th percentile in three months. On examination, the child is globally hypotonic and unable to sit upright without being held. She makes no sound apart from an occasional grunt. She shows interest in toys the doctor provides her but does not reach out for them, wringing her hands repeatedly. Which of the following best explains this patient's condition?

Question

Her mother brings a 13-month-old girl to the workplace. She is concerned that something is wrong and recalls, "My kid used to sit alone and enjoy chatting and clapping her hands. She still plays with her sisters and enjoys snuggles, but she hasn't babbled as much in the last three months and can't sit without my assistance. I can't persuade her to quit twisting her hands together. I'm concerned that her hands' skin is turning red, dry, and uncomfortable." Both my weight and height are in the 60th percentile. However, the patient's head growth has dropped from the 50th to the 40th percentile in three months. On examination, the child is globally hypotonic and unable to sit upright without being held.  She makes no sound apart from an occasional grunt.  She shows interest in toys the doctor provides her but does not reach out for them, wringing her hands repeatedly.  Which of the following best explains this patient's condition?

Quizplus · Accepted Answer

Eductional Objective: Rett syndrome is characterized by loss of speech and motor skills, deceleration of head growth, and stereotypic purposeless hand movements after a period of normal development.  It affects mainly girls and is associated with mutations in the MECP2 gene

Her Mother Brings a 13-Month-Old Girl to the Workplace