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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Checklist
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
- The CHARGE Syndrome Foundation (http://chargesyndrome.org/aboutE charge.asp)
- The CHARGE Informational Pack for Practitioners (SENSE UK) (https://www.sense.org.uk/content/chargeEinformationEpackEpractitioners)
- Book E CHARGE Syndrome (Genetics and Communication Disorders), 1st ed. Hartshorne TS, Hefner M, Davenport S, Thelin J. 2011
- OMIM Entry #214800 CHARGE Syndrome (http://www.omim.org/entry/214800)
- CHARGE Syndrome International Conference
- CHARGE Syndrome Listserv
- CHARGE Syndrome Facebook Group Perkins School for the Blind eElearning
- Deafblind International (http://www.deafblindinternational.org/index.htm)
- Open hands, open access: deafEblind intervener learning modules (http://moodle.nationaldb.org) Key General References
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