OBJECTIVE: CHARGE 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. METHODS: Parents 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. RESULTS: Previous 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. CONCLUSIONS: Obstructive 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.
OBJECTIVE:CHARGE 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. METHODS: Parents 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. RESULTS: Previous 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. CONCLUSIONS:Obstructive 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.
Authors: Yong-hui Jiang; Ryan K C Yuen; Xin Jin; Mingbang Wang; Nong Chen; Xueli Wu; Jia Ju; Junpu Mei; Yujian Shi; Mingze He; Guangbiao Wang; Jieqin Liang; Zhe Wang; Dandan Cao; Melissa T Carter; Christina Chrysler; Irene E Drmic; Jennifer L Howe; Lynette Lau; Christian R Marshall; Daniele Merico; Thomas Nalpathamkalam; Bhooma Thiruvahindrapuram; Ann Thompson; Mohammed Uddin; Susan Walker; Jun Luo; Evdokia Anagnostou; Lonnie Zwaigenbaum; Robert H Ring; Jian Wang; Clara Lajonchere; Jun Wang; Andy Shih; Peter Szatmari; Huanming Yang; Geraldine Dawson; Yingrui Li; Stephen W Scherer Journal: Am J Hum Genet Date: 2013-07-11 Impact factor: 11.025
Authors: Mireia Coll-Tané; Naihua N Gong; Samuel J Belfer; Lara V van Renssen; Evangeline C Kurtz-Nelson; Milan Szuperak; Ilse Eidhof; Boyd van Reijmersdal; Isabel Terwindt; Jaclyn Durkin; Michel M M Verheij; Chang N Kim; Caitlin M Hudac; Tomasz J Nowakowski; Raphael A Bernier; Sigrid Pillen; Rachel K Earl; Evan E Eichler; Tjitske Kleefstra; Matthew S Kayser; Annette Schenck Journal: Sci Adv Date: 2021-06-04 Impact factor: 14.957