An epidemiological analysis of CHARGE syndrome: Preliminary results from a Canadian study

CHARGE syndrome is a well‐characterized clinical diagnosis with recent data supporting a genetic etiology. A 3‐year national surveillance coordinated by the Canadian Pediatric Surveillance Program (CPSP) was started in September 2001. Physicians notified the CPSP if they had cared for individuals wi...

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Published inAmerican journal of medical genetics. Part A Vol. 133A; no. 3; pp. 309 - 317
Main Authors Issekutz, Karina A., Graham Jr, John M., Prasad, Chitra, Smith, Isabel M., Blake, Kim D.
Format Journal Article
LanguageEnglish
Published Hoboken Wiley Subscription Services, Inc., A Wiley Company 15.03.2005
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Summary:CHARGE syndrome is a well‐characterized clinical diagnosis with recent data supporting a genetic etiology. A 3‐year national surveillance coordinated by the Canadian Pediatric Surveillance Program (CPSP) was started in September 2001. Physicians notified the CPSP if they had cared for individuals with CHARGE syndrome within their practice, and then completed a detailed reporting form. To date, there are 77 confirmed cases of CHARGE syndrome. The highest provincial prevalence of CHARGE syndrome in Canada was estimated at 1 in 8,500 live births. Subgroups of cases with particular clusters of anomalies were identified. In older individuals, bilateral posterior choanal atresia (BPCA) was predictive of the presence of the three other major criteria and of aortic arch anomalies. Individuals with CHARGE syndrome who demonstrated a less extensive phenotype (≤3 major criteria) were more likely to present with minor cardiovascular malformations, including small atrial or ventricular septal defects (VSD) or patent ductus arteriosus (PDA). A significant cause of morbidity was severe feeding difficulty, including problems with chewing, swallowing, and gastroesophageal reflux, which were prevalent throughout childhood. Infant mortality is high in individuals with CHARGE syndrome. However, life expectancy has improved for those surviving their first year. Increased mortality was associated with distinct cardiovascular malformations or ventriculomegaly combined with brainstem or cerebellar anomalies. From this study, revised diagnostic criteria are proposed for infants, children, and adolescents to help identify a group of individuals who represent CHARGE syndrome with more of the classical features as apposed to the boarder association. © 2005 Wiley‐Liss, Inc.
Bibliography:E.A. Baker Foundation of the Canadian National Institute for the Blind (CNIB)
Skeletal Dysplasias NIH/NICHD Program Project - No. HD22657-11
IWK Health Center, Halifax, NS, Canada
ArticleID:AJMG30560
Medical Genetics NIH/NIGMS Training Program - No. GM08243
istex:2AF186A4EF316B449D9F4951B7437E6EBF0E06E4
ark:/67375/WNG-ZKR5ZJ3V-Q
CHARGE Syndrome Foundation, Inc.
SHARE's Childhood Disability Center
ObjectType-Article-1
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ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.30560