UNLABELLED: Patients with Coloboma, Heart defect, choanal Atresia, Retarded development, Genitorenal and Ear abnormalities (CHARGE) syndrome have been reported to be at high risk for aspiration and swallowing difficulties. Aspiration has been implicated as the most common cause of mortality in these patients. To date, however, aspiration and swallowing disorders in CHARGE patients have not been independently studied. OBJECTIVE: To determine the prevalence of aspiration and swallowing dysfunction in children with CHARGE syndrome. METHODS: A retrospective chart review of 30 children with CHARGE syndrome was performed. RESULTS: Eighteen (60%) children had aspiration observed on video swallow study (VSS), flexible endoscopic evaluation of swallowing (FEES), and/or had otherwise unexplained bronchiectasis noted on CT scan of the chest. Twenty-four children (80%) had evidence of abnormal swallowing such as laryngeal penetration, dyscoordination, poor bolus mobility, or pooling of secretions. CONCLUSION: Aspiration and swallowing dysfunction are common in children with CHARGE syndrome. Formal evaluation of swallowing function should be part of the standard otolaryngologic examination for these patients.
UNLABELLED: Patients with Coloboma, Heart defect, choanal Atresia, Retarded development, Genitorenal and Ear abnormalities (CHARGE) syndrome have been reported to be at high risk for aspiration and swallowing difficulties. Aspiration has been implicated as the most common cause of mortality in these patients. To date, however, aspiration and swallowing disorders in CHARGEpatients have not been independently studied. OBJECTIVE: To determine the prevalence of aspiration and swallowing dysfunction in children with CHARGE syndrome. METHODS: A retrospective chart review of 30 children with CHARGE syndrome was performed. RESULTS: Eighteen (60%) children had aspiration observed on video swallow study (VSS), flexible endoscopic evaluation of swallowing (FEES), and/or had otherwise unexplained bronchiectasis noted on CT scan of the chest. Twenty-four children (80%) had evidence of abnormal swallowing such as laryngeal penetration, dyscoordination, poor bolus mobility, or pooling of secretions. CONCLUSION: Aspiration and swallowing dysfunction are common in children with CHARGE syndrome. Formal evaluation of swallowing function should be part of the standard otolaryngologic examination for these patients.
Authors: Christa M de Geus; Rolien H Free; Berit M Verbist; Deborah A Sival; Kim D Blake; Linda C Meiners; Conny M A van Ravenswaaij-Arts Journal: Am J Med Genet C Semin Med Genet Date: 2017-11-23 Impact factor: 3.908