The aim of this presentation is to discuss the gastrointestinal (GI) symptoms and feeding difficulties in CHARGE syndrome. Much of this presentation is based on the review paper titled “Gastrointestinal and feeding difficulties in CHARGE syndrome: A review from head-to-toe”, authors Kim D. Blake, Alexandra S. Hudson American Journal Medical Genetics 2017; 1-11. This review paper is a useful resource for professionals and parents who want an overview of the GI issues in CHARGE syndrome.
The structural abnormalities, motility impairment and sensory impairment all contribute to the GI issues and are potential treatment targets. I will describe how cranial nerve abnormalities underlines the pervasive GI dysfunction and the need for further research on gut motility and the microbiome.