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

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Abstract

Background

Velocardiofacial 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.

Objective

The 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 method

Twenty 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.

Results

From 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).

Conclusion

Velopharyngeal 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.

Introduction

Velocardiofacial syndrome (VCFS) is one the most common multiple anomaly syndromes in humans. The inheritance pattern was confirmed to be autosomal dominant since the early reports in the 1980 [1], [2], [3]. Its genetic pattern was found in 1992 when a microdeletion of chromosome 22 at band q11.2 was demonstrated [4]. This syndrome is now recognized as the most common syndrome associated with cleft palate and velopharyngeal insufficiency (VPI). Moreover, VCFS constitutes 8% of patients with clefts of the secondary palate [5], [6]. The most common forms of palatal anomalies in VCFS are submucous cleft palate and occult submucous cleft palate [6]. These clefts can be difficult to identify without videonasopharyngoscopy and/or videofluoroscopy. Many reports suggest that individuals with VCFS have hypernasal speech in the absence of a cleft. However, occult submucous cleft palate is an anomaly that can go undetected until an endoscopic examination of the nasal surface of the velum is performed, identifying an absence (agenesis) or hypoplasia of the musculus uvulae [6]. Although frequency estimates of VPI among individuals with non-syndromic submucous cleft palate is a topic which has created controversy in the related scientific literature, with numbers from 9% to 47% or 51%, in our center, in studies of children with and without resonance and speech disorders, the frequency of VPI in cases of non-syndromic submucous cleft palate is actually quite low, probably under 10% [5]. In contrast, patients with VCFS who have a submucous cleft, show VPI in over 70% of the cases. There are several factors contributing to the high frequency of VPI in VCFS. Platybasia, small adenoids, tonsil hypertrophy, hypotonia, congenital velar shortening and abnormalities of pharyngeal muscles have been reported [5], [6], [7].

Besides hypernasal speech and nasal emission as a consequence of velopharyngeal dysfunction, other speech disorders and language delay are also common manifestations of VCFS. A high percentage of the speech disorders are associated with cleft palate [5], [6], [8], [9].

The goal in treating VPI is to restore a functional seal of the velopharyngeal sphincter during speech. The aim is to achieve a balanced nasal resonance during articulation. Several surgical options have been reported including Wardill push-back procedure, Furlow's palatoplasty, minimal incision palatopharyngoplasty, which includes specific surgical repair of the levator veli palatine muscle, and other augmentation techniques including fat injection and other synthetic materials injections [5], [10]. In addition, individualized velopharyngeal surgery is commonly performed when simple palatal repair fails to completely correct VPI. The most frequently reported procedures are customized pharyngeal flaps and sphincter pharyngoplasties.

There are reports that in non-syndromic submucous cleft palate, a minimal incision palatopharyngoplasty is a safe and reliable procedure for correcting VPI. The use of additional individualized velopharyngeal surgery is usually performed as a second option in unsuccessful cases. However, it has been reported that VPI in cases of VCFS requires a different approach [5], [10], [11]. It seems that velopharyngeal function during speech is somehow different in patients with VCFS.

The 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 (NSPC).

Section snippets

Material and methods

This study was carried out at the Cleft Palate Clinic of the Hospital Gea Gonzalez in Mexico City. The protocol was approved by the Research Committee and the Bioethics Committee of the Hospital. All patients with VCFS who were evaluated at the clinic from January 2002 to December 2009 were studied.

The active group was assembled with 20 patients with VCFS. All patients had a positive FISH (Fixed In Situ Hybridization) test corroborating a 22q11.2 deletion. We selected patients who showed

Results

From the group of patients with VCFS, fourteen patients (70%) showed a coronal velopharyngeal closure pattern during speech. Six patients (30%) showed a circular pattern. Passavant's ridge was not observed in any of the cases. None of the patients showed a saggital pattern.

In contrast, 10 patients (50%) from the group of patients with non-syndromic cleft palate (NSCP) showed a circular velopharyngeal closure pattern during speech. Two of these patients showed a Passavant's ridge. Seven patients

Discussion

The results of this study suggest that velopharyngeal function during speech is significantly different in patients with VCFS, as compared to patients with NSCP.

VCFS is common in children with palatal anomalies. Although initially reported as a common finding in children with cleft palate, the most common types of palatal anomalies in patients with VCFS are submucous cleft palate and occult submucous cleft palate [5], [6], [21].

These types of clefs can become very difficult to detect without

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