Orofarineal dysfunction in children with the Cornélia De Lange Syndrome: series of cases

Abstract

Introduction: Cornélia De Lange Syndrome (CdLS) is characterized by being polymalformative that involves facial anomalies, growth and psychomotor development retardation, behavioral changes and associated malformations. It is known that children affected by this syndrome have swallowing disorders, but there are few studies presented in the literature due to the rarity of the disease, with a case report being found and mostly with description of the findings. Objective: To identify swallowing disorders in children with Cornelia de Lange Syndrome, through videofluoroscopy. Methodology: Case series, retrospective. This is a convenience sample with children, diagnosed with Cornelia de Lange Syndrome, who had swallowing videofluoroscopy. Medical records of patients who were not complete were excluded. The sample characterization data were obtained from physical records and the study outcome data through clinical reports of patients’ swallowing videofluoroscopies. Results: Of the 6 individuals, 5 were male, in which 3 (50%) had laryngotracheal aspiration, silently. The median age was 5.50 months. According to the findings in the swallowing videofluoroscopies, swallowing difficulties were identified, such as premature posterior escape of food, inefficient ejection and difficulties in the formation of the bolus, such as delay in triggering the pharyngeal reaction, reflux to the nasopharynx, stasis in the valleys and peripheral sinuses and tracheal aspiration. Conclusion: All children with Cornelia de Lange Syndrome in this study had dysphagia to some degree, and half of them had silent laryngotracheal aspiration.