PURPOSE: to describe the findings for the oral and pharyngeal phases of swallowing, as well as the relevant orofacial sensorimotor aspects for children with Cornelia de Lange syndrome. METHODS: This is a retrospective case report. We performed a descriptive analysis of four protocols for speech evaluation of swallowing, routinely used in the Speech Therapy Service and applied to children with Cornelia de Lange syndrome of both genders, with age going from 1:2 to 9:6 years, referred for clinical and videofluoroscopic evaluation of swallowing to a public university hospital. Aspects of the oral and pharyngeal of swallowing were analyzed using clinical functional and videofluoroscopic evaluation. RESULTS: the changes in the orofacial sensorimotor system that were most detected are hypersensitivity and muscle hypertonia of the orofacial region. Among the changes observed in the oral phase of swallowing, was the presence of labial closure inefficient, previous oral escape of the food, inadequate bolus formation/organization and deficient oral ejection. In the pharyngeal phase there was a change in cervical auscultation, nasal reflux, reduced hyolaryngeal excursion, pharyngeal residue after deglutition, laryngeal penetration, and laryngotracheal aspiration. Oropharyngeal dysphagia was detected in all children. CONCLUSION: these findings indicate changes in the orofacial sensoriomotor aspects and impaired swallowing biomechanics. The important alterations in swallowing detected in these cases may correspond to typical manifestations of Cornelia de Lange syndrome.
De Lange Syndrome; Child; Deglutition; Deglutition Disorders
