Dr. Kim Blake Professor, Dalhousie University
14th International CHARGE syndrome conference – Professional Day August 2
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.
1. To leave you more knowledgeable and inspire you to ask questions about the forgotten gastrointestinal (GI) issues in CHARGE syndrome.
2. To share with you and your family the CHARGE syndrome checklist (Trider et al 2017) and the feeding assessment scale (Hudson et al).
3. To be an advocate for the CHARGE “gut” and move the research forward in gut motility and the microbiome.
Over 95% of individuals with CHARGE syndrome experience feeding and gastrointestinal (GI) dysfunction. 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.
Much of the work has come from Dr. Blake’s laboratory/team at Dalhousie University in Canada. She will describe the clinical and basic science research that has been completed over the last 10 years. A recent publication titled “Etiology and functional validation of gastrointestinal motility dysfunction in a zebrafish model of CHARGE syndrome”, will be discussed. Dr. Blake will also touch on the microbiome and preliminary data from her students.Porfolio tagged in CHARGE Syndrome