Developing a CHARGE syndrome checklist: Health supervision across the lifespan (from head to toe).

Health supervision and management considerations for individuals with CHARGE syndrome are often complex, and a comprehensive approach is essential. The Atlantic Canadian CHARGE syndrome team developed a checklist organized by body system and age to aid healthcare providers in their approach to the ongoing care of these individuals. The checklist was evaluated qualitatively using a modified Delphi method with widespread consultation from expert healthcare practitioners, parents, and individuals with CHARGE syndrome. These are the first comprehensive guidelines across the lifespan of CHARGE syndrome that suggest a consistent approach to medical surveillance, investigations, and management for the physician and the multi-disciplinary team caring for these individuals. We anticipate that these guidelines will provide improvements in care by preventing missed diagnoses, allowing for anticipatory counseling, and facilitating early referral for interventions and treatments. © 2017 Wiley Periodicals, Inc.

Obstructive Sleep Apnea in a Patient with CHARGE Syndrome.

CHARGE syndrome is a genetic disorder characterized by choanal atresia, coloboma of the eye, and ear and cranial nerve abnormalities. We report a child with CHARGE syndrome and obstructive sleep apnea. We highlight difficulties in discerning obstructive sleep apnea-related symptoms from typical features of CHARGE syndrome. Treatment options are discussed with regard to our patient. Tonsillectomy and adenoidectomy improved physical symptoms of obstructive sleep apnea in the patient.

Understanding obstructive sleep apnea in children with CHARGE syndrome.

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.