Evaluation of the levator veli palatini muscle thickness in patients with velocardiofacial syndrome using magnetic resonance imaging

Abstract

Velocardiofacial syndrome (VCFS) is associated with velopharyngeal insufficiency, which occurs in approximately 75% of VCFS patients. Surgical management of velopharyngeal insufficiency in VCFS patients is difficult with a high revision rate due to the anatomic and physiological abnormalities of the velopharynx. The aims of this study were to evaluate the thickness and symmetry of the levator veli palatini (LVP) muscle using magnetic resonance imaging (MRI), and to compare the findings in VCFS patients to those in patients with nonsyndromic submucous cleft palate. We conducted a prospective analysis of 17 VCFS patients (nine boys, eight girls; age range, 4-9 years) and nine patients with submucous cleft palate without VCFS (eight boys, one girl; age range, 4-13 years) who had undergone MRI between March 2009 and August 2013. The thickness of the LVP muscle was measured at six locations in both groups. The symmetry was determined by comparing the values between the average of the left three points and the right three points. The mean LVP muscle thickness was significantly thinner in VCFS patients (2.14 ± 0.73 mm) than in patients without VCFS (3.70 ± 1.08 mm) (p < 0.001). In addition, the difference between the left and right sides of muscle thickness in the VCFS group was larger than that in the nonsyndromic submucous cleft palate group (0.25 and 0.09 mm, respectively). The thinness and asymmetry of the LVP muscle should be considered when determining the surgical management of velopharyngeal insufficiency in VCFS patients.

Speech-Language Disorders in 22q11.2 Deletion Syndrome: Best Practices for Diagnosis and Management

“…Symptoms of VPD may include hypernasality, nasal emission, and resultant obligatory and compensatory misarticulation, as noted above. Syndrome-specific differences in velopharyngeal structure and function in 22qDS include hypoplasia and hypotonia of the velopharyngeal muscles, a wide and/or deep pharynx, platybasia (obtuse anterior cranial base angle), cervical spine abnormalities, reduced tonsil and adenoid volume, asymmetric muscle function, and cranial nerve abnormalities (Chegar, Tatum, Marrinan, & Shprintzen, 2006;Park, Ahn, Jeong, & Baek, 2015;Ruotolo et al, 2006). The timing of velopharyngeal closure may also be slower or poorly coordinated (Baylis, Watson, & Moller, 2009).…”

Clinical Significance of the Levator Veli Palatini Muscle in Velocardiofacial Syndrome Patients

“…Postoperative speech outcome and amount of improvement showed a significant correlation with preoperative velopharyngeal gap and did not appear to correlate with preoperative levator muscle thickness. Regarding the previous study (Park et al, 2015) and other studies observing levator muscle thickness in nonsyndromic and normal populations (Ettema et al, 2002;Ha et al, 2007;Perry et al, 2013), it can be deduced that in VCFS patients with an already hypodynamic and weakened LVP, the LVP has little or no effect on surgical outcome, including speech analysis, especially after pharyngeal flap surgery that does not involve an additional levator muscle rearrangement or strengthening procedure. On the contrary, a smaller preoperative velopharyngeal gap lead to better surgical outcomes of pharyngeal flap surgery, as the primary goal of pharyngeal flap surgery is to effectively obstruct the gap size in patients with velopharyngeal insufficiency.…”

“…The patients were sedated with chloral hydrate during the examination to prevent motion artifact, and were monitored by pulse oximetry until 1 hour after the examination was finished. The MRI protocol parameters, including selection of oblique coronal images of the correct plane of the LVP, were followed from the previous study (Park et al, 2015), as well as the measurement method of muscle thickness ( Figure 1). To maintain the consistency of the data, all measurements were performed by the first author (M.Y.J.).…”

Adults with 22q11.2 deletion syndrome have a different velopharyngeal anatomy with predisposition to velopharyngeal insufficiency

“…Current study Ruotolo et al, 2006 4 Park et al, 2015 13 Subjects Controls Violaris et al, 1994 22 Ettema et al, 2002 23 Subjects Controls Ha et al, 2007 9 Bae et al, 2011 24 Perry et al, 2014 25 Perry et al, 2014 26 Perri et al, 2014 27 Jordan et al, 2017 30 16 Obstructive sleep apnoea (OSA) is not commonly seen in patients with the 22q11.2 DS after a superiorly based pharyngeal flap. 32 A significantly larger pharyngeal airway volume will reduce the chance of OSA in these patients.…”

“…The individuals with the 22q11.2 DS had significantly shorter and thinner LVPs. Park et al 13 conducted a prospective study, which included 17 children with the 22q11.2 DS and nine children with nonsyndromic SMCP. Children with nonsyndromic SMCP had a significantly thicker LVP compared to patients with 22q11.2 DS (p < 0.001).…”