EVALUATION OF PHARYNGEAL AND LARYNGEAL STRUCTURE AND FUNCTION IN PATIENTS WITH OCULO-AURICULO-VERTEBRAL SPECTRUM

Objective: This study described the occurrence and expression of phary ngeal and laryngeal anomalies in a population of patients with oculo-a uriculo-vertebral spectrum (OAVS). Design: Cross-sectional study using chart review, physical examination, and endoscopic evaluation of the pharynx and larynx, and perceptual and aerodynamic evaluation of speec h for assessment of vocal tract function. Setting: Academic tertiary r eferral center. Patients: Chart review of 41 patients with a diagnosis of OAVS and clinical evaluation of 23 of the patients identified in t he initial chart review, ranging in age from 9 months to 17 years. Mai n Outcome Measures: Data from chart review pertaining to airway and sp eech symptoms. Physical examination and endoscopic studies of pharynge al and laryngeal structure and function and perceptual and aerodynamic evaluation of speech, resonance, and voice. Results: Chart review sho wed a high occurrence of indicators of pharyngeal and laryngeal abnorm alities such as velopharyngeal inadequacy and airway obstruction, Clin ical evaluations documented a variety of abnormalities in pharyngeal a nd laryngeal structure and function as well as impairment in speech ar ticulation, resonance, and voice, Presence and severity of pharyngeal and laryngeal abnormalities were not correlated with the severity of e xpression of the spectrum based on mandibular morphology. Conclusions: Oculo-auriculo-vertebral spectrum appears to be associated with a hig h occurrence of structural and functional abnormalities of the pharynx and larynx that may contribute to increased risk of airway obstructio n, communication impairment, and morbidity.