• Carrie-Lee Trider, Gerard Corsten, Debra Morrison, Margaret Hefner, Sandra Davenport, and Kim Blake.
• Dalhousie University, Halifax, Nova Scotia, Canada.
• Int. J. Pediatr. Otorhinolaryngol. 2012 Jul 1;76(7):947-53.

ObjectiveCHARGE syndrome occurs in approximately 1 in 8500 live births and is diagnosed clinically by combinations of major characteristics: choanal atresia, coloboma, characteristic ears, cranial nerve abnormalities and distinct temporal bone anomalies. More than 50% of children with CHARGE syndrome experience sleep disturbances, with obstructive sleep apnea being one diagnosis. Objectives of this study were to develop a better understanding of the prevalence, symptomatology and treatments of sleep apnea in CHARGE syndrome. Secondary aims were to determine the usefulness of questionnaires examining obstructive sleep apnea in a CHARGE syndrome population.MethodsParents of 51 children with CHARGE syndrome (aged 0-14 years) were recruited between May 2010 and July 2011. Genetic testing and/or clinical criteria confirmed diagnosis of CHARGE syndrome. Questionnaires completed by parents included one covering CHARGE characteristics and three previously validated questionnaires: the Brouilette Score Questionnaire, the Pediatric Sleep Questionnaire and the OSA-18 Quality of Life Questionnaire. SPSS 19.0 was used for statistical calculations.ResultsPrevious diagnosis of obstructive sleep apnea was present in 65% of the study population. Treatments included continuous positive airway pressure, tonsillectomy and/or adenoidectomy, and tracheostomy. Brouilette scores identified the presence of obstructive sleep apnea in the CHARGE syndrome population studied and indicated statistically significant (p=<0.001) improvements following treatment, which were comparable to the general population. Only the subscales of snoring and daytime sleepiness were useful in identifying obstructive sleep apnea using the Pediatric Sleep Questionnaire. The OSA-18 Questionnaire indicated that residual symptoms affecting quality of life may be present in the CHARGE syndrome population after treatment for obstructive sleep apnea.ConclusionsObstructive sleep apnea appears to be prevalent in children with CHARGE syndrome. All conventional treatments for obstructive sleep apnea reduce symptomatology. Brouilette scores are useful in identifying obstructive sleep apnea in the CHARGE syndrome population. The Pediatric Sleep Questionnaire could be useful once modified. The OSA-18 Questionnaire would be most useful as a means to measure quality of life gains following treatment.Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

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