Histology of the Pharyngeal Constrictor Muscle in 22q11.2 Deletion Syndrome and Non-Syndromic Children with Velopharyngeal Insufficiency

Plastic surgeons aim to correct velopharyngeal insufficiency manifest by hypernasal speech with a velopharyngoplasty. The functional outcome has been reported to be worse in patients with 22q11.2 deletion syndrome than in patients without the syndrome. A possible explanation is the hypotonia that is often present as part of the syndrome. To confirm a myogenic component of the etiology of velopharyngeal insufficiency in children with 22q11.2 deletion syndrome, specimens of the pharyngeal constrictor muscle were taken from children with and without the syndrome. Histologic properties were compared between the groups. Specimens from the two groups did not differ regarding the presence of increased perimysial or endomysial space, fiber grouping by size or type, internalized nuclei, the percentage type I fibers, or the diameters of type I and type II fibers. In conclusion, a myogenic component of the etiology of velopharyngeal insufficiency in children with 22q11.2 deletion syndrome could not be confirmed

Outcome of velopharyngoplasty in patients with velocardiofacial syndrome

Objective: To compare the outcomes of surgical correction of velopharyngeal insufficiency (VPI) in patients with velocardiofacial syndrome (VCFS) and a non-VCFS group. Design: Twenty-five patients with VCFS (16 girls and 9 boys) underwent palatal lengthening for VPI between 1986 and 2001. The mean age at surgery was 6.4 years. Revision was defined as the need for secondary sphincter pharyngoplasty as determined by speech investigation, nasal endoscopy, and acoustic nasometry. A comparison was made to a control group made up of a randomized group of patients without VCFS who underwent palatal lengthening for VPI (32 patients: 10 girls and 22 boys). Setting: Wilhelmina Children's Hospital, a tertiary referral center in Utrecht, the Netheralands. Patients: A total of 57 patients who underwent palatal lengthening for VPI, 25 with VCFS and 32 without VCFS. Interventions: Primary surgery consisted of a palatal lengthening technique. If revision was needed, a sphincter pharyngoplasty was carried out. Main Outcome Measures: Pharyngeal function was assessed using perceptual speech investigation, nasal endoscopy, and acoustic nasometry. Results: In the VCFS group, 16% of the patients required surgical revision (4 of 25). These patients were slightly older at the time of primary surgery than those who did not require surgical revision (mean age, 6 vs 5.5 years). In the control group, no patients required revision. Preoperative speech analysis showed a more pronounced VPI in the VCFS group than in the control group. Outcomes of endoscopy and speech hypernasality improved significantly more in the control group than in the VCFS group. Improvement in the results of acoustic nasometry did not differ significantly between the 2 groups. Conclusions: Treatment of VPI using palatal lengthening in children with VCFS is both safe and effective. The discrepancy in improvement between the speech analysis and the nasal endoscopy results within the VCFS group indicates that mechanical improvement does not necessarily correspond to an improvement in speech and emphasizes the complexity of speech disorders found in VCFS. ©2008 American Medical Association. All rights reserved

Outcome of Velopharyngoplasty in Patients With Velocardiofacial Syndrome

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Quantitative analyses.

<p>Quantitative analyses.</p

Qualitative analyses.

<p>Qualitative analyses.</p

Mean diameters of type I (A) and type II (B) muscle fibers and age at surgery.

<p>Solid lines: males, dashed lines: females.</p

Muscle fiber type measurements for children with and without 22q11DS.

<p>Bands, means. Boxes, 25^th–75^th percentiles. Whiskers, 95% confidence intervals.</p

Group demographics.

<p>O: males, X: females.</p

Histological specimens with ATPase stain at pH 4.3.

<p>A, a 5-year-old female without 22q11DS but with increased perimysial and endomysial space. B, a 10-year-old male with 22q11DS and without increased perimysial and endomysial space. Bars 50 µm.</p