American-J-of-Med-Genetics-Pt-C-2017

Hudson-2021

German-feeding-scale

 

Morrison2021

 

Guidelines-in-CHARGE-syndrome-and-the-missing-link-Cranial-imagingdc-1

Adolescent-and-Adult-Issues-in-CHARGE-Syndrome

CGAGAcadMed-2012-87-1679-1684

CGAGStandardized-pt-questionnaire-Oct2013

2017-Geus-Cranial-Imaging-AJMG

Skills-for-Interviewing-Adolescent-Patients

Trider2012

Hudson2016

Blake2005

Checklist

The Comprehensive Geriatric Assessment Guide: An Exploratory Analysis of a Medical Trainee Performance Evaluation Tool

 

CGAG-paper

CHARGE syndrome gastrointestinal involvement: from mouth to anus

CHARGE syndrome is an autosomal dominant disorder that occurs as a result of a heterozygous loss-of-function mutation in the chromodomain helicase DNA-binding (CHD7) gene, which is important for neural crest cell formation. Gastrointestinal (GI) symptoms and feeding difficulties are highly prevalent but are often a neglected area of diagnosis, treatment, and research. Cranial nerve dysfunction, craniofacial abnormalities, and other physical manifestations of this syndrome lead to gut dysmotility, sensory impairment, and oral–motor function abnormalities. Over 90% of children need tube feeding early in their life and many experience weak sucking/chewing, gastroesophageal reflux disease (GERD), and aspiration. The mainstay of treatment thus far has consisted of feeding therapy, GERD medications, Nissen fundoplication, gastrostomy/jejunostomy, and food texture limitation. Owing to the multitude of severe medical issues associated with this genetic disorder, GI involvement is often overlooked. Here, we report on five patients with CHARGE syndrome who manifested a range of severe GI and feeding difficulties.

Macdonald2016

Anaesthesia issues in CHARGE syndrome – what are the risks?

charge-factsheet-6-anaesthesia

FDIA-Article