{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T02:54:29Z","timestamp":1790477669512,"version":"4.1.0"},"reference-count":32,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,1,6]],"date-time":"2005-01-06T00:00:00Z","timestamp":1104969600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2005,3,15]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>CHARGE syndrome is a well\u2010characterized clinical diagnosis with recent data supporting a genetic etiology. A 3\u2010year 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 (\u22643 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. \u00a9 2005 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30560","type":"journal-article","created":{"date-parts":[[2005,1,6]],"date-time":"2005-01-06T10:53:01Z","timestamp":1105008781000},"page":"309-317","source":"Crossref","is-referenced-by-count":200,"title":["An epidemiological analysis of CHARGE syndrome: Preliminary results from a Canadian study"],"prefix":"10.1002","volume":"133A","author":[{"given":"Karina A.","family":"Issekutz","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"suffix":"Jr","given":"John M.","family":"Graham","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chitra","family":"Prasad","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabel M.","family":"Smith","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kim D.","family":"Blake","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,1,6]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004319900409"},{"key":"e_1_2_8_3_1","first-page":"27A","article-title":"CHARGE into the adolescent and adult decades","volume":"7","author":"Abi Daoud MS","year":"2002","journal-title":"Paediatr Child Health"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2214.1993.tb00744.x"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.65.2.217"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.68.4.508"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1177\/000992289803700302"},{"key":"e_1_2_8_8_1","article-title":"Adolescent and adult issues in CHARGE syndrome","author":"Blake KD","year":"2004","journal-title":"Clin Pediatr"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(2000)9999:999<00::AID-AJMG1132>3.0.CO;2-J"},{"key":"e_1_2_8_10_1","article-title":"Behavioral features of CHARGE syndrome (Hall\u2013Hittner syndrome)","author":"Graham JM","year":"2004","journal-title":"Am J Med Genet"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.108.5.e92"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(79)80513-2"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.99.3.363"},{"key":"e_1_2_8_14_1","article-title":"Autistic\u2010like behavior in CHARGE syndrome","author":"Hartshorne TS","year":"2004","journal-title":"Am J Med Genet"},{"key":"e_1_2_8_15_1","doi-asserted-by":"crossref","first-page":"122","DOI":"10.3928\/0191-3913-19790301-10","article-title":"Colobomatous microphthalmia, heart disease, hearing loss, and mental retardation: A syndrome","volume":"16","author":"Hittner HM","year":"1979","journal-title":"J Pediatr Ophthalmol Strabismus"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-9926(199912)60:6<334::AID-TERA5>3.0.CO;2-S"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20002"},{"key":"e_1_2_8_18_1","unstructured":"LawandC GrahamJMJr PrasadC BlakeKD.2003.CHARGE association\/syndrome: Looking ahead. 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