Abstract:Compared with healthy controls, adults with 22q11.2 DS showed a different velopharyngeal anatomy, which will make these individuals more prone to VPI.
“…Although only 1 of 6 patients with van der Woude syndrome developed VPI, all of our patients with 22q11.2 deletion syndrome developed VPI. Differences in palate length, levator veli palatini insertion, hypoplastic muscle, and airway structure have been proposed to predispose patients with 22q11.2 deletions to VPI (Sweeney et al, 2015; Filip et al, 2018). All 5 of our patients with Stickler syndrome presented with features of PRS, and 3 of these developed VPI.…”
Objective: Velopharyngeal insufficiency (VPI) remains a known complication of primary palatoplasty. We sought to identify factors associated with the incidence of VPI and create a predictive model for VPI development in our population. Design: A single-institution, retrospective review. Setting: Multidisciplinary clinic in a tertiary academic institution. Patients: A total of 453 consecutive patients undergoing primary palatoplasty from 1999 to 2016 were reviewed. Inclusion required follow-up past age 5. Patients who were non-verbal, and thus unable to undergo speech evaluation, were excluded. Main Outcome Measures: Primary outcome was VPI, defined as revision palatoplasty or recommendation by speech-language pathology. Results: Of 318 patients included, 179 (56%) were male. Median age at primary repair was 1.0 years (0.9-1.1) with a median age of 8.8 years at last follow-up. One hundred nineteen (37%) patients developed VPI at a median age of 5.0 years (3.8-6.5). Higher rates were seen with posterior fistula (65% vs 14%, P <.01) and straight-line repair (41% vs 9%, P <.01), with lower rates in patients with Veau I clefts (22% vs 39%, P <.05). Patients with VPI were older at last follow-up. Following multivariate regression, factors remaining significant were posterior fistula (odds ratio [OR]: 11.3, 95% CI: 6.1-22.0), primary Furlow repair (OR: 0.18, 95% CI: 0.03-0.68), genetic diagnoses (OR: 2.92, 95% CI: 1.1-7.9), and age at last follow-up (OR: 1.11, 95% CI: 1.01-1.2). Conclusions: Length of follow-up, posterior fistulae, and genetic diagnoses are associated with VPI formation. Furlow repair may protect against formation of VPI. Use of allograft, Veau class, birth type, birth weight, and race are not independently associated with VPI formation.
“…Although only 1 of 6 patients with van der Woude syndrome developed VPI, all of our patients with 22q11.2 deletion syndrome developed VPI. Differences in palate length, levator veli palatini insertion, hypoplastic muscle, and airway structure have been proposed to predispose patients with 22q11.2 deletions to VPI (Sweeney et al, 2015; Filip et al, 2018). All 5 of our patients with Stickler syndrome presented with features of PRS, and 3 of these developed VPI.…”
Objective: Velopharyngeal insufficiency (VPI) remains a known complication of primary palatoplasty. We sought to identify factors associated with the incidence of VPI and create a predictive model for VPI development in our population. Design: A single-institution, retrospective review. Setting: Multidisciplinary clinic in a tertiary academic institution. Patients: A total of 453 consecutive patients undergoing primary palatoplasty from 1999 to 2016 were reviewed. Inclusion required follow-up past age 5. Patients who were non-verbal, and thus unable to undergo speech evaluation, were excluded. Main Outcome Measures: Primary outcome was VPI, defined as revision palatoplasty or recommendation by speech-language pathology. Results: Of 318 patients included, 179 (56%) were male. Median age at primary repair was 1.0 years (0.9-1.1) with a median age of 8.8 years at last follow-up. One hundred nineteen (37%) patients developed VPI at a median age of 5.0 years (3.8-6.5). Higher rates were seen with posterior fistula (65% vs 14%, P <.01) and straight-line repair (41% vs 9%, P <.01), with lower rates in patients with Veau I clefts (22% vs 39%, P <.05). Patients with VPI were older at last follow-up. Following multivariate regression, factors remaining significant were posterior fistula (odds ratio [OR]: 11.3, 95% CI: 6.1-22.0), primary Furlow repair (OR: 0.18, 95% CI: 0.03-0.68), genetic diagnoses (OR: 2.92, 95% CI: 1.1-7.9), and age at last follow-up (OR: 1.11, 95% CI: 1.01-1.2). Conclusions: Length of follow-up, posterior fistulae, and genetic diagnoses are associated with VPI formation. Furlow repair may protect against formation of VPI. Use of allograft, Veau class, birth type, birth weight, and race are not independently associated with VPI formation.
“…In individuals with 22q11.2DS, imaging studies that included radiographs and magnetic resonance imaging (MRI) have reported the velum to be short, thin, and hypoplastic. 6–9 The most commonly reported pharyngeal abnormality is a deep pharynx, resulting in an increased velopharyngeal ratio, which is calculated as velar length divided by pharyngeal depth. 6…”
Section: Introductionmentioning
confidence: 99%
“…In individuals with 22q11.2DS, imaging studies that included radiographs and magnetic resonance imaging (MRI) have reported the velum to be short, thin, and hypoplastic. [6][7][8][9] The most commonly reported pharyngeal abnormality is a deep pharynx, resulting in an increased velopharyngeal ratio, which is calculated as velar length divided by pharyngeal depth. 6 The levator veli palatini (levator) muscle is the primary muscle responsible for soft palate elevation and velopharyngeal closure during oral speech sound production.…”
Objective Velopharyngeal dysfunction (VPD) associated with 22q11.2 deletion syndrome (22q11.2DS) has a complex etiology. This study had 3 aims: (1) assess differences in velopharyngeal and levator muscle configuration during rest versus sustained speech production (2) compare differences in velopharyngeal changes between children with and without 22q11.2DS (3) examine the relationship between adenoid thickness, pharyngeal depth, and velopharyngeal changes. Design Cross-sectional. Methods A total of 22 participants, 11 with 22q11.2DS and 11 controls with normal speech and velopharyngeal anatomy (ages 4-12 years), underwent nonsedated MRI at rest and during sustained /i/. Differences in velar and levator muscle contraction across the 2 different conditions were analyzed, using matched paired t-tests. Mean differences across participant groups were examined. Correlation analyses were also conducted. Results When comparing differences between rest and sustained phoneme production (aim 1), significant ( P < .05) differences were noted for all velar and levator muscle variables. For differences in velopharyngeal changes between children with and without 22q11.2DS (aim 2), VP ratio and effective VP ratio were noted to be significantly different. Pharyngeal depth and adenoid thickness were correlated with velar and levator muscle change measures and ratios (aim 3). Conclusion Results from this study provide quantitative in vivo measurements of the contracted levator muscle and velum in young children with 22q11.2DS. Results demonstrated that VP ratio and EVP ratio are significantly different between children with and without 22q11.2DS and that pharyngeal depth is a strong clinical determinant of VPD in children with 22q11.2DS.
“…Such visualisation provides important information that aids patient management decision-making. In addition, MRI is used to investigate the anatomical reasons why some patient groups are more predisposed to speech problems [13] , [14] , [15] , [16] . Fig.…”
Highlights
A method to segment the vocal tract and articulators in MR images was developed.
Median accuracy: Dice coefficient of 0.92; general Hausdorff distance of 5mm.
Developed to facilitate quantitative analysis of the vocal tract and articulators.
Intended for use in clinical and non-clinical studies of speech.
A novel clinically relevant segmentation accuracy metric was also developed.
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