Velopharyngeal valving during speech, in patients with velocardiofacial syndrome and patients with non-syndromic palatal clefts after surgical and speech pathology management

BackgroundVelocardiofacial syndrome (VCFS) is the most common genetic syndrome associated with cleft palate. There are reports describing several anomalies associated with the palatal cleft in patients with VCFS, which can affect the characteristics of the velopharyngeal insufficiency (VPI) in these cases.ObjectiveThe purpose of this study is to assess velopharyngeal sphincter function during speech, using videonasopharyngoscopy (VNP) and videofluoroscopy (VF), in patients with VCFS, as compared with patients with non-syndromic palatal clefts (NSCP).Material and methodTwenty patients with VCFS corroborated by a FISH test were studied. All patients showed a palatal cleft. All patients had received previous management including speech therapy and palatal repair. These patients underwent a thorough clinical speech evaluation, including VNP and VF. Twenty patients with NSCP matched by sex, type of cleft and within the age range of the patients with VCFS were studied as controls.ResultsFrom the patients with VCFS, seventeen patients showed a submucous cleft palate. Three patients showed sub-total cleft of the secondary palate. Fourteen patients (70%) showed a coronal velopharyngeal closure pattern. Six patients (30%) showed a circular pattern. In contrast, 10 patients (50%) from the NSCP group showed a circular pattern, two of them showed a Passavant's ridge. Seven patients (35%) showed a coronal pattern and 3 patients (15%) showed a saggital pattern. Mean velum (V) and lateral pharyngeal wall (LPW) motion were significantly decreased in patients with VCFS (V = 46% vs 71%; LPW = 14% vs 30%; P < 0.001). Size of the defect during speech was significantly increased in patients with VCFS (34.57% vs 67.37%; P < 0.001).ConclusionVelopharyngeal valving during speech is significantly different in patients with VCFS as compared with patients with NSCP. Several anomalies associated with the palatal cleft in patients with VCFS can explain these differences. Thus, the surgical approach for repairing a palatal cleft should consider these differences. Moreover, surgical planning should be performed according to the specific findings of the velopharyngeal sphincter in order to improve speech outcome.