Study Category: Papers

CHARGE Syndrome Check-List

CHARGE Syndrome Check-List

A comprehensive approach to health screening and management for individuals with CHARGE syndrome is essential. We developed a checklist organized by body system and age to guide the healthcare provider in their approach to care. The checklist was evaluated using a modified Delphi method to develop a final consensus.

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CHARGE-Checklist-2024

 

CHARGE Syndrome Check-List: HEALTH SUPERVISION ACROSS THE LIFESPAN (FROM HEAD TO TOE)

Abbreviations Used in Checklist

CGH E comparative genomic hybridization
CNS E central nervous system CT E computed tomography DEXA scan E dual energy XEray absorptiometry
EEG E electroencephalogram ENT E ear, nose and throat
FSH E follicle stimulating hormone
GH E growth hormone
HRT E hormone replacement therapy LH E luteinizing hormone
MRI E magnetic resonance imaging MSK E musculoskeletal
U/S E ultrasound
VCUG E voiding cystourethrogram

Resources

Blake K, Prasad C. 2006. CHARGE syndrome. Orphanet J Rare Dis 1: 34

Brown D. 2005. CHARGE syndrome “behaviors”: challenges or adaptations? Am J Med Genet Part A 133A: 268E272
Hsu P, Ma A, Wilson M, Williams G, Curotta J, Munns CF, Mehr S. 2014. CHARGE syndrome: a review. J Pediatr Child Health 50: 504E511

 

Geriatric Assessment

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

 

CGAG-paper

Gastrointestinal

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
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