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Background: Velopharyngeal structure augmentation methods are used as alternatives to pharyngeal flap operations. Recently, we investigated the sites of velopharyngeal structure augmentation in dogs and reported that the most effective injection location is the soft palate. However, there have been no reports regarding the optimal materials for implantation or injection. In this study, we aimed to investigate the injectable materials used in soft palate augmentation in dogs to ameliorate velopharyngeal insufficiency (VPI)., Methods: Endoscopic soft palate augmentation (ESPA) was performed in dogs using purified sodium hyaluronate, atelocollagen, or autogenic fat tissue. ESPA is an original technique developed by our group, and this is the first report of its performance. Moreover, we assessed the amount of nasal air leakage during inspiration at rest and during expiration under the rebreathing system at 1, 2, 3, 4, 5, and 6 months after injection of these materials., Results: The amount of nasal air leakage during expiration under the rebreathing system was significantly decreased in all dogs injected with the ESPA materials, but neither apnea nor hypopnea was observed., Conclusions: We investigated the optimal materials for use in ESPA, such as purified sodium hyaluronate, atelocollagen, or autogenic fat tissue. We found that all of them reduced nasal air leakage and only autogenic fat tissue showed significant histologic differences in dogs at 6 months. This technique may also be useful for the treatment of patients with VPI., Competing Interests: The authors have declared that no competing interests exist.

Palatal involvement occurs commonly in patients with 22q11.2 Deletion Syndrome (22qDS), and includes palatal clefting and velopharyngeal dysfunction in the absence of overt or submucous clefts. The reported incidence and distribution of palatal abnormalities vary in the literature. The aim of this article is to revisit the incidence and presenting features of palatal abnormalities in a large cohort of patients with 22qDS, summarize the surgical treatments performed in this cohort, and provide an overview of surgical treatment protocols and management guidelines for palatal abnormalities in this syndrome. Charts of 1,121 patients seen through the 22q and You Center at the Children's Hospital of Philadelphia were reviewed for palatal status, demographic factors, deletion size, and corrective surgical procedures. Statistical analysis was performed using Pearson's chi-squared test to identify differences between gender, deletion size, and palatal abnormality. Of the patients with complete evaluations, 67% were found to have a palatal abnormality. The most common finding was velopharyngeal dysfunction in 55.2% of patients, and in 33.3% of patients, this occurred in the absence of palatal clefting. There was no significant difference in the incidence of palatal abnormalities by gender; however, a difference was noted among race (p < 0.01) and deletion sizes (p < 0.01). For example, Caucasian and Asian patients presented with a much higher prevalence of palatal abnormalities, and conversely those with nested deletions presented with a much lower rate of palatal defects. Overall, 26.9% of patients underwent palatal surgery, and the most common indication was velopharyngeal dysfunction. Palatal abnormalities are a hallmark feature of 22q11.2 Deletion Syndrome; understanding the incidence, presenting features, and treatment protocols are essential for practitioners counseling and treating families affected with this disorder., (© 2019 Wiley Periodicals, Inc.)

Background: Velopharyngeal structure augmentation methods are used as alternatives to velopharyngeal plasty. Anatomic sites of implantation/injection vary widely due to a lack of standardized criteria. Here, we experimentally investigated optimal sites of velopharyngeal structure augmentation via saline injection in dogs as they naturally exhibit velopharyngeal insufficiency (VPI)., Methods: Velopharyngeal structure augmentation was performed on 10 beagles (age range: 20-24 months; weight range: 9-12 kg). Saline containing 1/80,000 epinephrine was injected intraorally in 1-mL increments into the nasal mucosa of the soft palate (n = 4), posterior pharyngeal wall (n = 3), or bilateral pharyngeal walls (n = 3) of each dog. Nasal air leakage was measured under rebreathing until velopharyngeal closure was achieved; the measurement was performed using flow meter sensors on both nasal apertures, and the oral cavity was filled with alginate impression material to prevent oral air leakage., Results: Pre-injection, the dogs exhibited an average of 0.455 L/s air leakage from the nasal cavity. The dogs with saline injected into the nasal mucosa of the soft palate achieved steady augmentation, and nasal air leakage disappeared under rebreathing following 6-mL saline injection. Conversely, nasal air leakage remained in the dogs with saline injected in the posterior pharyngeal wall or bilateral pharyngeal walls., Conclusions: During VPI treatment in dogs, augmentation was most effective at the nasal mucosa of the soft palate. Improvement in nasal air leakage was highly dependent on the saline injection volume. Although velopharyngeal structures vary between dogs and humans, velopharyngeal closure style is similar. Thus, our results may aid in the treatment of VPI patients., Competing Interests: The authors have declared that no competing interests exist.

Velopharyngeal dysfunction (VPD) occurs when the muscular soft palate (velum) and lateral pharyngeal walls are physically unable to separate the oral and nasal cavities during speech production leading to hypernasality and abnormal speech reduction. Because VPD is often associated with overt or submucous cleft palate, it could be present as a subclinical phenotype in families with a history of orofacial clefting. A key assumption to this model is that the overt and subclinical manifestations of the orofacial cleft phenotype exist on a continuum and therefore share common etiological factors. We performed a genome-wide association study in 976 unaffected relatives of isolated CP probands, 54 of whom had VPD. Five loci were significantly (p < 5 × 10 -8 ) associated with VPD: 3q29, 9p21.1, 12q21.31, 16p12.3 and 16p13.3. An additional 15 loci showing suggestive evidence of association with VPD were observed. Several genes known to be involved in orofacial clefting and craniofacial development are located in these regions, such as TFRC, PCYT1A, BNC2 and FREM1. Although further research is necessary, this could be an indication for a potential shared genetic architecture between VPD and cleft palate, and supporting the hypothesis that VPD is a subclinical phenotype of orofacial clefting.

Objectives: To characterise the craniofacial structure by cephalometry, especially the skull base and nasopharyngeal space, in children who underwent adenoidectomy and developed persistent velopharyngeal dysfunction (VPD)., Design: Retrospective study., Setting: Speech and swallowing clinic of a single academic hospital., Participants: Thirty-nine children with persistent VPD following adenoidectomy (mean age 8.0±3.6 years) and a control group of 80 healthy children., Main Outcome Measures: Cephalometric landmarks were chosen; craniofacial linear and angular dimensions were measured and analysed., Results: The linear dimensions of the nasopharyngeal area were shorter in the VPD group, S-Ba (41.6±4.2 mm, P<.05) and S-Ptm (42.4±5.1 mm, P<.05). The anterior skull base, N-S, was similar (68.1 mm±6.8). The velum length, Ptm-P was significantly shorter in the VPD group (27.8±4.3 mm, P<.001). The Ba-S-Ptm angle was significantly larger in the VPD group (63.5±5.6°, P<.001). There was no significant difference in cranial base angle (CBA), Ba-S-N, between the two groups., Conclusions: Cephalometry may provide information regarding persistent postoperative VPD. The nasopharyngeal space angle and velar length appear to be risk factors for persistent VPD after adenoidectomy., (© 2017 John Wiley & Sons Ltd.)

Congenital cranial dysinnervation disorders (CCDDs) comprise a heterogeneous spectrum of diseases characterized by congenital, non-progressive impairment of eye, eyelid and/or facial movements including Möbius syndrome, Duane retraction syndrome, congenital ptosis, and congenital fibrosis of the extraocular muscles. Over the last 20 years, several CCDDs have been identified as neurodevelopmental disorders that are caused by mutations of genes involved in brain and cranial nerve development, e.g. KIF21A and TUBB3 that each plays a pivotal role for microtubule function. In a five-generation pedigree, we identified a heterozygous mutation of TUBB6, a gene encoding a class V tubulin which has not been linked to a human hereditary disease so far. The missense mutation (p.Phe394Ser) affects an amino acid residue highly conserved in evolution, and co-segregates with a phenotype characterized by congenital non-progressive bilateral facial palsy and congenital velopharyngeal dysfunction presenting with varying degrees of hypomimia, rhinophonia, impaired gag reflex and bilateral ptosis. Expression of the mutated protein in yeast led to an impaired viability compared to wildtype cells when exposed to the microtubule-poison benomyl. Our findings enlarge the spectrum of tubulinopathies and emphasize that mutations of TUBB6 should be considered in patients with congenital non-progressive facial palsy. Further studies are needed to verify whether this phenotype is indeed part of the CCDD spectrum., (© The Author 2017. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.)

Purpose: Cephalometric evaluation of craniofacial and craniopharyngeal morphology is important for understanding the factors affecting velopharyngeal dysfunction (VPD) in patients with palatal anomalies., Materials and Methods: In this study, 366 patients with VPD were retrospectively stratified into cleft lip and palate (CLP), cleft palate (CP), submucous cleft palate (SMCP), occult submucous cleft palate (OSMCP), and non-CP groups. Lateral cephalometrics were used to assess craniofacial, craniopharyngeal, and velopharyngeal anatomy., Results: The average craniofacial morphology in patients with VPD differed significantly according to the type of palatal anomaly. The non-CP and OSMCP groups differed from the CLP, CP, and SMCP groups in nasopharyngeal size and shape as depicted by a larger ANS-Ptm-Ve angle, a smaller S-N-Ba and NBa-PP angles, and a shorter linear value of S-Ar in the non-CP group. The CLP and CP groups had shorter ANS-Ptm, shorter Ptm-P, and smaller SNA and SNB angles., Conclusion: VPD patients with overt clefts have different skeletal and nasopharyngeal shapes compared to non-CP and OSMCP. Velopharyngeal function assessment should include the size and shape of the nasopharyngeal space in addition to the size and the activity of the velum and posterior and lateral walls of the nasopharynx. This should enable a more precise understanding of VPD pathology, and lead to improvements in the posterior pharyngeal flap technique in order to obtain better postoperative speech outcomes after surgical management of velopharyngeal dysfunction., (Copyright © 2016 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.)

The convexity of the dorsal surface of the velum is critical for normal velopharyngeal (VP) function and is largely attributed to the levator veli palatini (LVP) and musculus uvulae (MU). Studies have correlated a concave or flat nasal velar surface to symptoms of VP dysfunction including hypernasality and nasal air emission. In the context of surgical repair of cleft palates, the MU has been given relatively little attention in the literature compared with the larger LVP. A greater understanding of the mechanics of the MU will provide insight into understanding the influence of a dysmorphic MU, as seen in cleft palate, as it relates to VP function. The purpose of this study was to quantify the contributions of the MU to VP closure in a computational model. We created a novel 3-dimensional (3D) finite element model of the VP mechanism from magnetic resonance imaging data collected from an individual with healthy noncleft VP anatomy. The model components included the velum, posterior pharyngeal wall (PPW), LVP, and MU. Simulations were based on the muscle and soft tissue mechanical properties from the literature. We found that, similar to previous hypotheses, the MU acts as (i) a space-occupying structure and (ii) a velar extensor. As a space-occupying structure, the MU helps to nearly triple the midline VP contact length. As a velar extensor, the MU acting alone without the LVP decreases the VP distance 62%. Furthermore, activation of the MU decreases the LVP activation required for closure almost 3-fold, from 20% (without MU) to 8% (with MU). Our study suggests that any possible salvaging and anatomical reconstruction of viable MU tissue in a cleft patient may improve VP closure due to its mechanical function. In the absence or dysfunction of MU tissue, implantation of autologous or engineered tissues at the velar midline, as a possible substitute for the MU, may produce a geometric convexity more favorable to VP closure. In the future, more complex models will provide further insight into optimal surgical reconstruction of the VP musculature in normal and cleft palate populations.

Background: The role of calcium hydroxylapatite injection pharyngoplasty after failed sphincter pharyngoplasty surgery has not previously been described. We report our technique of injecting calcium hydroxylapatite into the pharyngoplasty site to add bulk to specific areas of the velopharyngeal port., Methods: A retrospective review of children undergoing calcium hydroxylapatite injection pharyngoplasty for persistent velopharyngeal insufficiency after sphincter pharyngoplasty was performed. Our surgical technique is described. Outcome measures included postoperative perceptual assessment of resonance, improvement in phoneme-specific nasometry scores, and rate of revision surgery., Results: Fourteen patients were included in the study. Improvement in hypernasality on perceptual assessment was noted in the majority of children (85.7%). The rate of achievement of normal resonance on perceptual analysis was 35.7%. A significant decrease in nasometry scores was noted for the following phonemes: /pa/, /sa/, /sha/, and /pi/. There were no intraoperative complications or immediate postoperative complications associated with calcium hydroxylapatite injection., Conclusions: Our early experience suggests that calcium hydroxylapatite injection after failed sphincter pharyngoplasty is a safe, minimally invasive technique with favorable short-term results.

The purpose of this study was to investigate the preoperative morphology of velopharyngeal structures in older patients with cleft palate and to evaluate which structure(s) could distinguish velopharyngeal function. The investigators implemented a retrospective study and 66 patients whose palate was repaired by 1 surgeon with the same technique were selected, including 38 boys and 28 girls, aged from 5 years and 1 month to 28 years and 6 months. All these patients were taken lateral preoperative cephalograms at rest and during phonation of /i/. Fifteen lengths, 3 ratios, and 1 angle variable were defined in this study. The follow-up time was from 3 months to 12 months. All these measurements were analyzed by independent samples t test and discriminant analysis in a stepwise method, while P value was set at 0.05. In this study, there were 30 patients with velopharyngeal closure (VPC) and 36 patients with velopharyngeal insufficiency (VPI) after surgery. Differences in velar length, posterior velar length, pharyngeal height, hard-soft palatal angle, and pharyngeal height-depth ratio were significantly different at rest, while all the measurements during phonation were not significantly different. Discriminant analysis showed that the VPC group could be discriminated from the VPI group primarily on the basis of velar length, pharyngeal depth, and VP ratio, of which the correlation ratio was 0.963 and the discriminant rate was 100%. Therefore, the results suggested not only velar length and pharyngeal depth but also pharyngeal height significantly affected the formation of normal velopharyngeal function. Furthermore, there was a strong prognostic significance of preoperative velar length, pharyngeal depth, and VP ratio for postoperative velopharyngeal function.

Objective: The aim was to evaluate clinical application of autologous fat transplantation in the posterior pharynx to treat velopharyngeal incompetence and cleft palate., Study Design: Case series with chart review., Setting: Cleft Lip and Palate Center of Plastic Surgery Hospital, an academic medical center., Subjects and Methods: We studied 11 patients (age, 5-26 years) with a cleft palate and velopharyngeal insufficiency who underwent autologous fat injection. Patients were followed for 9 to 40 months. Pronunciation evaluation, visual appearance of the palatopharyngeal area, nasopharyngeal fibroscopy (NPF), palatopharyngeal lateral radiography, and magnetic resonance imaging (MRI) were undertaken before and after the operation., Results: Speech intelligibility was markedly increased in all patients. Pronunciation was good to excellent compared with the preoperative level (P = .001). Mean velopharyngeal insufficiency rate was significantly reduced from 26.05% to 6.96% (P = .028) by NPF and from 26.42% to 7.11% (P = .017) by MRI (axial plane). Magnetic resonance imaging indicated significantly reduced mean minimum velopharyngeal distance, from 10.39 to 3.65 mm (P = .012) in the sagittal plane, and markedly increased thickness of transplanted fat in the posterior pharyngeal wall (sagittal, 5.43 mm; axial, 4.74 mm). There were few complications (sleep apnea, nasopharyngeal regurgitation)., Conclusion: Autologous fat transplantation in the posterior pharyngeal wall was a good method for treating velopharyngeal incompetence. The safety profile was good in our sample, and we got a consistent result in the follow-up period. In addition, it also could be combined with routine surgery.

The purpose of this study was to investigate the developmental tendency of velopharyngeal structures in different-age patients with cleft palate (CP) to provide reference for selecting surgery in clinic. The investigators implemented a retrospective study, and 66 patients were selected, including 38 boys and 28 girls (average age, 15 years 5 months ± 7 years). These patients were divided into 3 groups (G1, G2, and G3) according to their ages and were taken lateral preoperative cephalograms at rest and during phonation of /i/. Twelve lengths and 3 ratios variables were defined in this study. All these measurements were analyzed by analysis of variance and post hoc test, whereas P value was set at 0.05. There were significant differences of velar thickness and height, vertical velar length, pharyngeal height and depth, uvular pharyngeal depth, and hard palate length and height. Except velar height and vertical velar length of which the differences were only significant between G1 and G2, the difference of the others was significant between G1 and G2, and G1 and G3. In conclusion, velar thickness and posterior velar length increased significantly before 20 years old, whereas the motility of velar muscles between 12 years old and 20 years old was weaker. Growths of maxilla in vertical and horizontal dimension were faster before 20 years old. Besides, height-depth ratio was increasing with increase in age.

Background: Changes in nasalance caused by resonance change after endonasal surgeries have been reported in prior studies. In clinical practice, although patients often complain of a nasal voice just after surgery, their voices recover over time. The objective of this study was to evaluate the long-term nasalance changes before and after endonasal surgery., Methods: Patients who underwent sinonasal surgery at Yeouido St. Mary's Hospital between March 2009 and July 2011 were included in this study. We classified the subjects into three groups according to the surgeries they underwent: group 1, the septoturbinoplasty group; group 2, the endoscopic sinus surgery group; and group 3, the septoturbinoplasty and endoscopic sinus surgery group. We checked acoustic profiles, Grade, Roughness, Breathiness, Asthenia, Strain (GRBAS) scores, and nasalance using a nasometer before and after the sinonasal surgery., Results: When considering multidimensional voice program results, no observed parameters showed statistically meaningful changes before or after the operation in all three groups. GRBAS scales in all patients changed less than two scales postoperatively. Nasalance increased at 1 month after the operation in all groups. However, it returned to original levels with time: 3 months in group 2 and 6 months in groups 1 and 3., Conclusion: Sinonasal surgery can change the acoustic characteristics of the vocal tract and produce a significant increase in nasality in the early phase. However, after proper healing of the nasal cavity, nasality was observed to become similar to the preoperative level. Therefore, patients, especially voice professionals, do not need to be wary of voice changes after sinonasal surgery.

Background: Patients with the 22q11.2 deletion syndrome (22qDS) and velopharyngeal dysfunction (VPD) tend to have residual VPD following surgery. This systematic review seeks to determine whether a particular surgical procedure results in superior speech outcome or less morbidity., Methodology/ Principal Findings: A combined computerized and hand-search yielded 70 studies, of which 27 were deemed relevant for this review, reporting on a total of 525 patients with 22qDS and VPD undergoing surgery for VPD. All studies were levels 2c or 4 evidence. The methodological quality of these studies was assessed using criteria based on the Cochrane Collaboration's tool for assessing risk of bias. Heterogeneous groups of patients were reported on in the studies. The surgical procedure was often tailored to findings on preoperative imaging. Overall, 50% of patients attained normal resonance, 48% attained normal nasal emissions scores, and 83% had understandable speech postoperatively. However, 5% became hyponasal, 1% had obstructive sleep apnea (OSA), and 17% required further surgery. There were no significant differences in speech outcome between patients who underwent a fat injection, Furlow or intravelar veloplasty, pharyngeal flap pharyngoplasty, Honig pharyngoplasty, or sphincter pharyngoplasty or Hynes procedures. There was a trend that a lower percentage of patients attained normal resonance after a fat injection or palatoplasty than after the more obstructive pharyngoplasties (11-18% versus 44-62%, p = 0.08). Only patients who underwent pharyngeal flaps or sphincter pharyngoplasties incurred OSA, yet this was not statistically significantly more often than after other procedures (p = 0.25). More patients who underwent a palatoplasty needed further surgery than those who underwent a pharyngoplasty (50% versus 7-13%, p = 0.03)., Conclusions/ Significance: In the heterogeneous group of patients with 22qDS and VPD, a grade C recommendation can be made to minimize the morbidity of further surgery by choosing to perform a pharyngoplasty directly instead of only a palatoplasty.

Understanding the normal anatomy and physiology of the velopharyngeal mechanism is the first step in providing appropriate diagnosis and treatment for children born with cleft lip and palate. The velopharyngeal mechanism consists of a muscular valve that extends from the posterior surface of the hard palate (roof of mouth) to the posterior pharyngeal wall and includes the velum (soft palate), lateral pharyngeal walls (sides of the throat), and the posterior pharyngeal wall (back wall of the throat). The function of the velopharyngeal mechanism is to create a tight seal between the velum and pharyngeal walls to separate the oral and nasal cavities for various purposes, including speech. Velopharyngeal closure is accomplished through the contraction of several velopharyngeal muscles including the levator veli palatini, musculus uvulae, superior pharyngeal constrictor, palatopharyngeus, palatoglossus, and salpingopharyngeus. The tensor veli palatini is thought to be responsible for eustachian tube function., (© Thieme Medical Publishers.)

Background: The current study was designed to obtain qualitative and quantitative information of the velopharyngeal mechanism and craniometric dimensions in infants born with a normal mechanism and in infants with an unrepaired cleft palate., Materials and Methods: Clinical magnetic resonance imaging data were obtained from the medical charts of 4 infants (2 with cleft lip and palate and 2 without) between the ages of 8 and 9 months. Craniometric measures and levator veli palatini muscle morphology were analyzed using visualization modeling software. Both raw measures and measures normalized by head circumference were examined., Results: Patients 1 and 2 demonstrated normal velopharyngeal anatomy and a similar distance between levator muscle origins (38.9-40.7 mm), sagittal angles of origin (56-57 degrees), and levator muscle bundle lengths (28.4-30.7 mm). Patients with an unrepaired cleft palate displayed smaller oblique coronal angles of origins (58-62 degrees) compared with patients without cleft palate (62-67 degrees). Patients without cleft palate showed a steeper muscle (56-57 degrees) compared with patients without cleft palate (66-67 degrees). The basion-sella-nasion angle, hard palate length, and hard palate width measurements are related systematically to head circumference in this patient group., Discussion: Results from the current study are in agreement with previous studies demonstrating variations across patients with cleft palate particularly in the muscle bundle lengths, distance between muscle origins, velar thickness, and velar length. Longitudinal studies are needed to determine how levator muscle and craniometric dimensions vary between those with and without cleft palate. A larger sample size is necessary to provide statistical analysis.

Background: Velopharyngeal insufficiency is frequently managed surgically via the superiorly based pharyngeal flap procedure. The flap used in this procedure traditionally consists of both mucosa and muscle. Although muscle is included to potentially increase survival and tissue bulk, its inclusion may result in postoperative dysfunction of pharyngeal sidewall motion. Although the benefits of pharyngeal flap surgery are established, the denervated muscular portion of the flap appears to atrophy. The purpose of this study was to evaluate whether a flap consisting entirely of mucosa provides the same tissue bulk as a conventional pharyngeal flap 12 weeks postoperatively., Methods: Ten laboratory-grade cats served as direct patient surrogates. Cats were randomized to undergo a superiorly based pharyngeal flap procedure with flaps composed of either both muscle and mucosa (n = 5) or mucosa only (n = 5). Blinded volumetric analysis was performed by three board-certified neuroradiologists using magnetic resonance imaging of the pharynx immediately after surgery and at 4, 8, and 12 weeks., Results: At 12 weeks postoperatively, pharyngeal flaps composed of both mucosa and muscle atrophied to reach volumetric equivalence with mucosa-only flaps. Evaluation of final pharyngeal flap volume demonstrated no statistical differences between the two groups., Conclusions: This study demonstrates equivalent final superiorly based pharyngeal flap tissue bulk for flaps composed of only mucosa when compared with conventional pharyngeal flaps. Thus, the mucosa-only pharyngeal flap may yield similar outcomes while potentially providing for an earlier return of normal pharyngeal function.

Background: Pharyngeal flaps are used to treat velopharyngeal insufficiency. Occasionally the flap exceeds its intended function and results in an obstructive airway. In this article, the results of management of these cases are analysed., Methods: This is a 39-year retrospective review of patients who had revision of pharyngeal flaps causing obstructive airway symptoms. Three methods of relieving the airway obstruction were used, and the patients were thus separated into three groups, namely group 1 (release and Z-plasty of the lateral ports), group 2 (division of the pharyngeal flap) and group 3 (division of the pharyngeal flap combined with Furlow palatoplasty). The results obtained were based on four parameters: symptomatic improvement, velopharyngeal sufficiency, the presence of re-attachment of the pharyngeal flap and the necessity for re-operation. These results were then pooled into two groups: 'good result' and 'bad result'. The respiratory disturbance index (RDI) was also obtained and analysed separately. Statistical analysis was performed with the Fisher's exact test and the paired t-test in SPSS v.11., Results: A total of 44 patients were included in the study. There were 20, 11 and 13 patients in groups 1, 2 and 3, respectively. The Pearson's chi-square test indicated that group 3 patients had a statistically significant proportion of 'good results' when compared to groups 1 (p=0.019) and 2 (p=0.004). There was a statistically significant reduction in RDI in group 3 (p=0.003). There was no statistically significant difference between the groups 1 and 2., Conclusions: Division of a pharyngeal flap for obstructive airway complications should be accompanied by a Furlow palatoplasty to reduce the myriad complications that arise from either a release+Z-plasty or a simple division of the pharyngeal flap., (Copyright 2009 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved.)

This study compared shape, size and length of the pharyngeal airway in individuals with and without obstructive sleep apnoea (OSA) using a novel endoscopic imaging technique, anatomical optical coherence tomography (aOCT). The study population comprised a preliminary study group of 20 OSA patients and a subsequent controlled study group of 10 OSA patients and 10 body mass index (BMI)-, gender- and age-matched control subjects without OSA. All subjects were scanned using aOCT while awake, supine and breathing quietly. Measurements of airway cross-sectional area (CSA) and anteroposterior (A-P) and lateral diameters were obtained from the hypo-, oro- and velopharyngeal regions. A-P : lateral diameter ratios were calculated to provide an index of regional airway shape. In all subjects, pharyngeal CSA was lowest in the velopharynx. Patients with OSA had a smaller velopharyngeal CSA than controls (maximum CSA 91 +/- 40 versus 153 +/- 84 mm(2); P < 0.05) but comparable oro- (318 +/- 80 versus 279 +/- 129 mm(2); P = 0.48) and hypopharyngeal CSA (250 +/- 105 versus 303 +/- 112 mm(2); P = 0.36). In each pharyngeal region, the long axis of the airway was oriented in the lateral diameter. Airway shape was not different between the groups. Pharyngeal airway length was similar in both groups, although the OSA group had longer uvulae than the control group (16.8 +/- 6.2 versus 11.2 +/- 5.2 mm; P < 0.05). This study has shown that individuals with OSA have a smaller velopharyngeal CSA than BMI-, gender- and age-matched control volunteers, but comparable shape: a laterally oriented ellipse. These findings suggest that it is an abnormality in size rather than shape that is the more important anatomical predictor of OSA.

Background: Velopharyngeal insufficiency (VPI) expresses the structural and neuromuscular disorder of soft palate and pharyngeal walls inhibiting the normal functions of velopharyngeal (VP) sphincter mechanism. In this study, efficacy of dynamic magnetic resonance imaging in the diagnosis of VPI is investigated., Materials and Methods: A total of 32 cases, 16 controls and 16 cleft palates, were included in this study. T1 fast spin echo-weighted imaging during rest, dynamic investigations with True-fast imaging with steady-state precession sequence during /sss/ and /mmm/ phonations were performed., Results: During /sss/ phonation, complete closure was observed in the control group, whereas mean VP opening was 4.11 cm2 preoperatively and 0.21 cm2 postoperatively in the cleft palate group. In the postoperative period, only 3 patients did not have complete closure. In the second operations, performed 6 months later, only muscle repair was done. All 3 had complete closure., Conclusions: In cleft palate cases with delayed diagnosis, appropriate application of muscle repair will be sufficient for anatomic repair of VPI without any extra procedures. In addition, dynamic magnetic resonance imaging is an objective, noninvasive, reliable, and effective modality that may be used in the diagnosis and treatment of VPI without any extra investigations.

In the current study, we evaluated the efficiency of using porous polyethylene implant to correct velopharyngeal insufficiency (VPI) in young adult patients. Ten male patients with VPI, aged 21 to 27 years, underwent posterior pharyngeal wall augmentation with porous polyethylene implant. The evaluations for VPI on all patients in the study included speech evaluation of nasality and articulation, mirror test, nasopharyngoscopy, and magnetic resonance (MR) imaging. Evaluation of the methods for correcting VPI was done preoperatively and 6 months after surgery, and the results were compared. According to preoperative speech evaluation, 7 patients had severe hypernasal speech and 3 patients had moderate hypernasal speech. Follow-up evaluations demonstrated that 7 patients had normal speech without hypernasal resonance. Although all patients had nasal escape on mirror test preoperatively, only 2 had nasal escape postoperatively. When the preoperative and postoperative results of the Multi-Dimensional Voice Programme were analyzed, there was a statistically significant improvement in all parameters. The distance between the posterior pharyngeal wall and the velum during phonation observed preoperatively had disappeared in the postoperative period in all of the patients' sagittal-plane MR scans. In the axial views of the MR scans, the velopharyngeal gap area calculated preoperatively was reduced in the postoperative period. We conclude that posterior pharyngeal wall augmentation with porous polyethylene implant is an effective method in the correction of mild VPI in adult patients.

Inherent differences in the levator veli palatini (LVP) muscle of cleft palates before palatoplasty may play a role in persistent postrepair velopharyngeal insufficiency (VPI). Contractile properties of LVP muscle fibers were analyzed from young (2-month) normal (YNP), young congenitally cleft (YCP) and again on the same YCP subjects 6 months after palatoplasty, mature repaired palate (MRP). The cross-sectional area and rate of force development (ktr) were measured. Specific force (sF(0)) and normalized power (nP(max)) were calculated. Using k(tr) to determine fiber type composition, YNP was 44% type 1 and 56% type 2, while YCP was 100% type 2. Two MRP subjects shifted to 100% type 1; 1 demonstrated increased resistance to fatigue. No differences in sF(0) were observed. nP(max) increased with presence of type 2 fibers. The persistent state of type 2 fibers following palatoplasty leads to increased fatigue in the LVP of MRP subjects and may cause VPI symptoms.

Velopharyngeal insufficiency remains a sequel of labial-alveolar-velopalatine clefts. It may occur despite a good quality primary repair. A surgical management must be considered as soon as speech therapy is no longer efficient or before any irreversible compensatory speech pattern appears. Thus, surgery should be decided on after consultation between the surgeon and the speech pathologist or speech therapist, when considering that speech therapy has failed. Several surgical techniques are discussed: intravelar veloplasty, Furlow double-opposing Z-plasty, pharyngoplasty using an inferior or superior pedicle flap. Superior pedicle flap surgery is currently the most commonly used technique. For the past twenty years we have used this technique as described by Petit and modified by Malek, because of the excellent speech results. The drawbacks are known and can be contained by a preventive management.

We recently showed respiratory-related coactivation of both extrinsic and intrinsic tongue muscles in the rat. Here, we test the hypothesis that intrinsic tongue muscles contribute importantly to changes in velopharyngeal airway volume. Spontaneously breathing anesthetized rats were placed in a MRI scanner. A catheter was placed in the hypopharynx and connected to a pressure source. Axial and sagittal images of the velopharyngeal airway were obtained, and the volume of each image was computed at airway pressures ranging from +5.0 to -5.0 cm H2O. We obtained images in the hypoglossal intact animal (i.e., coactivation of intrinsic and extrinsic tongue muscles) and after selective denervation of the intrinsic tongue muscles, with and without electrical stimulation. Denervation of the intrinsic tongue muscles reduced velopharyngeal airway volume at atmospheric and positive airway pressures. Electrical stimulation of the intact hypoglossal nerve increased velopharyngeal airway volume; however, when stimulation was repeated after selective denervation of the intrinsic tongue muscles, the increase in velopharyngeal airway volume was significantly attenuated. These findings support our working hypothesis that intrinsic tongue muscles play a critical role in modulating upper airway patency.

Introduction: The importance of the soft palate is greater than its dimension. Velopharyngeal muscles have diverse functions. The goal of this study was to clarify the efficacy of levator-palatopharyngeus surgery according to Kriens., Material and Methods: Retrospective follow-up of 22 cleft patients operated at the Department of Oral and Maxillo-Facial and Plastic Surgery at the University of Greifswald between 1994 to 2001, within the context of primary closure of the palate. A questionnaire evaluated parents' opinion of postoperative results of treatment. Speech, videoendoscopics and hearing findings were analyzed., Results: Parents assessed success of the treatment as adequate to very good. More than a half of the patients had perfect or very usable colloquial speech. Speech findings of patients with palatal clefts (CP) were significantly better than those of patients with clefts of lip, alveolus and palate (CLAP) (p = 0.043). Velopharyngeal closure pattern with highest prevalence was the coronal closure type. Subjects with CLAP were much more likely to have poor velopharyngeal closure (VPI > 2 mm(2); 58%) than those with a CP (12%). More than 75% of the patients showed normal hearing results in the audiogram., Conclusion: Levator-palatopharyngeus surgery according to Kriens seems to be effective in exact reconstruction of velar muscle sling, improving velopharyngeal structure and function.

Objective: 22q11.2 deletion syndrome is the most common genetic cause of velopharyngeal dysfunction (VPD). Magnetic resonance imaging (MRI) is a promising method for noninvasive, three-dimensional (3D) assessment of velopharyngeal (VP) anatomy. The purpose of this study was to assess VP structure in patients with 22q11.2 deletion syndrome by using 3D MRI analysis., Design: This was a retrospective analysis of magnetic resonance images obtained in patients with VPD associated with a 22q11.2 deletion compared with a normal control group., Setting: This study was conducted at The Children's Hospital of Philadelphia, a pediatric tertiary care center., Patients, Participants: The study group consisted of 5 children between the ages of 2.9 and 7.9 years, with 22q11.2 deletion syndrome confirmed by fluorescence in situ hybridization analysis. All had VPD confirmed by nasendoscopy or videofluoroscopy. The control population consisted of 123 unaffected patients who underwent MRI for reasons other than VP assessment., Interventions: Axial and sagittal T1- and T2-weighted magnetic resonance images with 3-mm slice thickness were obtained from the orbit to the larynx in all patients by using a 1.5T Siemens Visions system., Outcome Measures: Linear, angular, and volumetric measurements of VP structures were obtained from the magnetic resonance images with VIDA image-processing software., Results: The study group demonstrated greater anterior and posterior cranial base and atlanto-dental angles. They also demonstrated greater pharyngeal cavity volume and width and lesser tonsillar and adenoid volumes., Conclusion: Patients with a 22q11.2 deletion demonstrate significant alterations in VP anatomy that may contribute to VPD.

Caused by a microdeletion at the q11.2 locus of chromosome 22, velo-cardio-facial syndrome (also known as VCFS, 22q11 deletion syndrome, DiGeorge sequence, and conotruncal anomalies face syndrome) is associated with a distinctive physical, neurocognitive, and psychiatric phenotype. Increasing interest has centered on identifying the candidate genes within the deleted region that may contribute to this phenotype. One attractive candidate gene is catechol-O-methyltransferase (COMT) because it encodes for a protein that degrades dopamine. Variability in COMT activity is related to a Val158Met polymorphism that has been implicated in prefrontal lobe cognitive and neuropsychiatric function. We examined the effect of this polymorphism on prefrontal anatomy and frontally-mediated neuropsychological function in 58 children with VCFS, 26 who were hemizygous for the Met allele and 32 for the Val allele. We found an allele by gender interaction effect on the volumes of the dorsal prefrontal and orbital prefrontal cortices. We did not find significant allele or gender by allele effects on neuropsychological tasks, although girls with the Met allele tended to perform better on the Wisconsin card sorting task. These data suggest that this functional COMT polymorphism may play a gender-moderated role in determining the neuroanatomic phenotype of individuals with VCFS. Longitudinal evaluation of these children is essential in order to identify potential clinical implications of this allele by gender interaction., (Copyright 2006 Wiley-Liss, Inc.)

During cleft repair, velopharyngeal sphincter reconstruction is still a challenge to plastic surgeons. To improve the surgical treatment for cleft palate and secondary velopharyngeal incompetence (VPI), a carefully designed modified procedure for primary palatoplasty and secondary VPI was presented. Fifty-six patients (48 for primary cleft palate repair and eight for secondary VPI of previously repaired clefts) underwent this procedure from 1988 to 2001. The modified procedure is a combination of the tunnelled palatopharyngeus myomucosal flap for dynamic circular reconstruction of the pharyngeal element of the velopharyngeal sphincter and the double-reversing Z-plasty with levator velo palatini muscles reposition in the velar element of the sphincter. The satisfactory velopharyngeal competence (complete velopharyngeal closure and marginal velopharyngeal closure) was achieved in 23 of 25 patients with primary cleft palate repair examined by nasendoscopy and the nasality, speech articulation and intelligibility are also assessed in 25 primary cleft palate repaired patients with 92% satisfactory result (normal speech and speech with mild VPI) in single word test and 88% in continuous speech evaluation. Based on our experience, we believe that this modified procedure is a reasonable choice for primary cleft repair and secondary VPI treatment because it is in accord with normal physiology and anatomy of the velopharyngeal sphincter, can lengthen the soft palate, decrease the enlarged velopharynx, augment the posterior pharyngeal wall, and enhance the relationship between the muscles of velopharyngeal sphincter which results in a dynamic neo-sphincter in palatopharyngoplasty. Further study of the procedure is needed. The theoretical basis, operative highlights, velopharyngeal function, advantages and disadvantages of the modified procedure were discussed.

Introduction: The term insuffisance velopalatine was first used by Larmoyez in 1892 r. Nowadays the term is used to denote the failure of the palate to produce velopharyngeal closure that would completely block the nasopharynx from the lower pharynx during physiological processes of swallowing, blowing, speaking, breathing and ventilation of the internal auditory canal. Numerous surgical techniques used in the treatment of VPI were described in the past 100 years. Several techniques have been used to decrease the velopharyngeal space, like operations aiming at bulging of the posterior pharyngeal wall and alternating "Z-plasty" of the soft palate aiming at prolongation and improvement of the mobile function of the palate., Material and Method: The prospective studies were carried on from May 2003 to October 2004. Patients with severe forms of VPI were qualified for surgical treatment by a phoniatrist, speech therapist and plastic surgeon. All the surgical procedures were performed by the same surgeon. Bulging of the posterior pharyngeal wall by means of corionic graft was performed in 8 patients as the first stage treatment followed by prolongation of the palate by means of Furlow's technique 6 months later. The anatomical conditions as well as speech quality prior to, after the first and the second procedure were evaluated on the basis of direct examination, speech assessment, nasofibroscopic examinations and nasometric measurements., Results: Examinations performed 6 months after termination of surgical treatment revealed improvement or significant improvement in speech quality, especially concerning reduced nasality, speech intelligibility and decreased nasal airflow (on an average from 48% to 33%). Five patients rated in questionnaires the outcome of treatment as "significant improvement"., Conclusion: Complex staged management consisting in bulging of the posterior pharyngeal wall and Furlow's operation appeared to be a successful modality of treatment in patients with severe forms of velo-pharyngeal insufficiency in about 75% of cases.

Twenty-one patients, including our two cases, with variable clinical phenotype, ranging from mild learning disability to severe congenital malformations or overlapping features with DiGeorge/velocardiofacial syndromes (DG/VCFS), have been shown to have a chromosome duplication 22q11 of the region that is deleted in patients with DG/VCFS. The reported cases have been identified primarily by interphase FISH and could have escaped identification and been missed by routine cytogenetic analysis. Here we report on two inherited cases, referred to us, to rule out 22q11 microdeletion diagnosis of VCFS. The first patient was a 2-month-old girl, who presented with cleft palate, minor dysmorphic features including short palpebral fissures, widely spaced eyes, long fingers, and hearing loss. Her affected mother had mild mental retardation and learning disabilities. The second patient was a 7(1/2)-year-old boy with velopharyngeal insufficiency and mild developmental delay. He had a left preauricular tag, bifida uvula, bilateral fifth finger clinodactyly, and bilateral cryptorchidism. His facial features appeared mildly dysmorphic with hypertelorism, large nose, and micro/retrognathia. The affected father had mild mental retardation and had similar facial features. FISH analysis of interphase cells showed three TUPLE1-probe signals with two chromosome-specific identification probes in each cell. FISH analysis did not show the duplication on the initial testing of metaphase chromosomes. On review, band q11.2 was brighter on one chromosome 22 in some metaphase spreads. The paucity of reported cases of 22q11.2 microduplication likely reflects a combination of phenotypic diversity and the difficulty of diagnosis by FISH analysis on metaphase spreads. These findings illustrate the importance of scanning interphase nuclei when performing FISH analysis for any of the genomic disorders., (Copyright 2005 Wiley-Liss, Inc.)

Three siblings and their mother are reported who all had cytogenetically proven velocardiofacial syndrome (VCFS). One boy had normal dental and craniofacial findings, except for an increased cranial base angle. His sister had only one central incisor in the maxilla. One central incisor had also been missing in the primary dentition. She had no labial frenulum present. Cephalometry showed a small maxillary unit length indicating mild maxillary hypoplasia, an increased anterior face height, steep mandibular plane angle, retruded chin, and a large cranial base angle. Dental measurements showed retroclined lower incisors and increased interincisal angle. A second sister had a cleft of the secondary palate. All permanent teeth were present with the exception of a missing central incisor in the lower jaw: the single lower central incisor was situated in the midline. Her cephalometry showed similar findings as in her sister. All three siblings required palate surgery for speech. Mother was not available for detailed dental and other oral investigations. A single maxillary central incisor has previously been reported in VCFS, but to our knowledge a single central incisor in the mandible has not been reported previously in this entity.

Klippel-Feil syndrome is a disorder characterized by failure of normal segmentation of any two of the seven cervical vertebrae. It presents with a high frequency of cleft lip and/or palate and occasional oligodontia in both the primary and permanent dentition, craniofacial asymmetry, maxillary constriction and velopharyngeal insufficiency.

The purpose of this study was to describe the previously unreported tendinous insertion of the anterolateral fibers of the levator veli palatini (levator) and discuss possible implications for levator function and cleft palate repair. The velopharyngeal anatomy in normal adult cadavers was studied, with histologic confirmation of anatomical findings. These findings were compared with a more limited study of levator anatomy in cleft palates at the time of intraoperative muscle dissection. Just before entering the velum, the levator divides into two parts. The smaller bundle of muscle fibers (anterolateral part) runs anteriorly, close to the lateral pharyngeal wall, and inserts into the palatine aponeurosis through a number of fine tendons. The main part of the muscle runs medially into the velum, where it fans out and forms the levator sling with the contralateral levator. The possible function of the anterolateral part of the levator is discussed. Inadequate release of the tendinous insertions at the time of palate repair may tether the levator anteriorly and compromise muscle retropositioning or may result in splitting of the levator, so that only part of the levator is retropositioned.

Objective: To describe the morphological changes of nasopharyngeal components after maxillary distraction and clarify whether the morphological characteristics are related to velopharyngeal function (VPF)., Design: Perceptual judgments of hypernasality and nasendoscopy were performed before and after treatment. Lateral cephalograms were obtained to describe the morphological changes., Setting: Department of Oral and Maxillofacial Surgery, Miyazaki Medical College, Miyazaki, Japan., Participants: Nine patients with repaired cleft palate in the mixed dentition stage underwent maxillary distraction using a face mask and an intraoral fixed appliance system., Outcome Measures: The severity of hypernasality, velopharyngeal insufficiency, and measurements such as pharyngeal depth, velar length, and the rotation of the palatal plane were evaluated., Results: Increase in pharyngeal depth was not always proportional to the amount of advancement. It depended on the posture of the posterior pharyngeal wall and the rotation of palatal plane., Conclusion: Cephalometric measurements of the nasopharynx before and after surgery confirmed subsequent changes in VPF. These were suggested to be useful in predicting future VPF. When performing maxillary distraction in patients with cleft palate in the mixed dentition stage, and when velopharyngeal closure is found to occur by velar contact against the hypertrophied adenoid, patients should be counseled about risks of subsequent deterioration in their speech before surgery.

This study investigated the morphology of the frontal lobe and the caudate nucleus in velocardiofacial syndrome, a neurogenetic disorder caused by a microdeletion at chromosome 22q11.2 and frequently associated with severe psychiatric disturbances. Volumes of the caudate nucleus and subregions of the frontal lobe were compared on magnetic resonance images of 10 children with velocardiofacial syndrome and 10 age- and gender-matched controls. Frontal deep white matter was reduced significantly (by about 23%) in subjects with velocardiofacial syndrome relative to controls. Frontal and prefrontal volumes were also reduced in subjects with velocardiofacial syndrome, although not disproportionately to whole brain volume. The volume of the right caudate nucleus was increased in children with velocardiofacial syndrome. Associations between right caudate and right frontal regions were noted in controls but not in children with velocardiofacial syndrome. These findings suggest frontostriatal dysfunction in children with velocardiofacial syndrome. Insofar as up to 30% of adults with velocardiofacial syndrome (also known as chromosome 22q11 deletion syndrome) develop schizophrenia and frontostriatal dysfunction has been noted in schizophrenia, the findings support the hypothesis that velocardiofacial syndrome might represent a neurodevelopmental model of schizophrenia.

Dense surface models can be used to analyze 3D facial morphology by establishing a correspondence of thousands of points across each 3D face image. The models provide dramatic visualizations of 3D face-shape variation with potential for training physicians to recognize the key components of particular syndromes. We demonstrate their use to visualize and recognize shape differences in a collection of 3D face images that includes 280 controls (2 weeks to 56 years of age), 90 individuals with Noonan syndrome (NS) (7 months to 56 years), and 60 individuals with velo-cardio-facial syndrome (VCFS; 3 to 17 years of age). Ten-fold cross-validation testing of discrimination between the three groups was carried out on unseen test examples using five pattern recognition algorithms (nearest mean, C5.0 decision trees, neural networks, logistic regression, and support vector machines). For discriminating between individuals with NS and controls, the best average sensitivity and specificity levels were 92 and 93% for children, 83 and 94% for adults, and 88 and 94% for the children and adults combined. For individuals with VCFS and controls, the best results were 83 and 92%. In a comparison of individuals with NS and individuals with VCFS, a correct identification rate of 95% was achieved for both syndromes. This article contains supplementary material, which may be viewed at the American Journal of Medical Genetics website at http://www.interscience.wiley.com/jpages/0148-7299/suppmat/index.html., (Copyright 2004 Wiley-Liss, Inc.)

Objectives: This study was designed to determine whether velar surgery was worthwhile for submucous cleft palate (SMCP) and evaluate whether results were dependent on the degree of the anatomical abnormality., Design: A prospective study of a consecutive series of patients fulfilling the entry criteria, assessed blindly from records arranged randomly., Patients: Fifty-eight patients diagnosed with SMCP and operated on by a single surgeon between June 1991 and April 1997 were reviewed. Forty patients fulfilled the entry criteria. Minimum follow-up was 6 years., Intervention: Radical reconstruction of the soft palate musculature was performed by one surgeon using the operating microscope. A scoring system was devised for grading the anatomical severity of submucous cleft (SMCP score)., Main Outcome Measures: Postoperative hypernasality and nasal emission scores and the degrees of improvement were considered the primary outcome measures, and the degree of velopharyngeal closure was also assessed., Results: There were highly significant improvements in hypernasality, nasal emission, and velopharyngeal closure. A preoperative gap size of more than 13 mm was associated with less satisfactory outcomes, but gap size was not predictive of improvement. Severity of the SMCP did not correlate with the degree of preoperative speech abnormality but was a significant predictor of outcome of surgery, with the less severe (total SMCP score of 0 to 3) having less satisfactory end results and lesser degrees of improvement. Patients with less abnormal muscle anatomy had lesser degrees of improvement., Conclusion: Repair of the muscle abnormality in SMCP is recommended as the first line of treatment in most cases.

The article is focused on an evaluation of some anatomic features of velopharynx (e.g. pharyngeal depth, velar length) that are evaluated together with dynamic clinical examinations before surgery to predict the best indication for pharyngoplasty. (Tab. 3, Fig. 2, Chart 2, Ref. 10.)

Objective: The purpose of this study was to examine the relationship between perceptual characteristics of hypernasality, nasal emission and nasal rustle, and size of the velopharyngeal gap., Design: A retrospective medical chart review., Setting: Cincinnati Children's Hospital Medical Center., Subjects: Subjects were patients of the Craniofacial Anomaly Team. All were between ages 3 and 12 years and diagnosed with velopharyngeal dysfunction secondary to cleft palate +/- cleft lip. A total of 173 charts were reviewed., Outcome Measures: Speech characteristics were assessed perceptually by an experienced speech-language pathologist. Following that assessment, velopharyngeal closure was evaluated using videofluoroscopy, nasopharyngoscopy, or both., Results: Based on the perceptual ratings alone, 21 subjects were diagnosed with nasal rustle only, 27 had hypernasality with nasal rustle, 89 had hypernasality with nasal emission without nasal rustle, and 36 had hypernasality with no audible nasal emission. An ordinal logit regression was conducted and showed that moderate and severe hypernasality contributed significantly to the prediction of a large gap size; nasal rustle contributed significantly to prediction of a small gap size. Perceptual characteristics of speech correctly predicted gap size for 121 of the 173 subjects (70%)., Conclusions: This investigation revealed that some information regarding velopharyngeal gap size may be predicted from the speech assessment alone. Confidence in the prediction is strongest if the patient has nasal rustle, suggesting a small gap, or if the patient has moderate to severe hypernasality, which is more commonly associated with a large opening.

Background: Velocardiofacial syndrome (VCFS) is one of the most common multiple anomaly syndromes in humans. Pharyngeal hypotonia, one of the most common findings in VCFS, contributes to hypernasal speech, which occurs in approximately 75% of individuals with VCFS., Objective: To evaluate the thickness and histologic and histochemical properties of the superior pharyngeal constrictor (SPC) muscle in patients with VCFS to determine whether a muscle abnormality exists that might contribute to the hypotonia seen in these patients. Subjects The SPC muscle thickness in 26 VCFS patients (18 male and 8 female; age range, 3-29 years) was compared with SPC muscle thickness in age- and sex-matched controls using magnetic resonance images. The histologic and histochemical properties of the SPC muscle in 9 VCFS patients (6 male and 3 female; age range, 4-12 years) were compared with SPC muscle in 3 adult cadavers without VCFS (all male; age range, 80-86 years) using specimens obtained during pharyngeal flap surgery., Results: The thickness of the SPC muscle was significantly less in patients with VCFS (2.03 mm) than in patients without VCFS (2.85 mm). The SPC muscle contained a significantly greater proportion of type 1 fibers in patients with VCFS (27.7%) than in adults without VCFS (17.9%), and the diameter of the type 1 fibers was significantly smaller in patients with VCFS (21.6 micro m) than in adults without VCFS (26.6 micro m)., Conclusions: Differences in the thickness and histologic and histochemical properties of the SPC muscle found in patients with VCFS compared with individuals without VCFS may offer insight into the cause of pharyngeal hypotonia and hypernasal speech seen in these patients.

Objective: To characterize the velopharyngeal morphology of patients with persistent velopharyngeal incompetence (VPI) following repushback surgery for cleft palate., Participants: Seven patients with moderate to severe VPI following repushback surgery for secondary correction of cleft palate, and 14 patients who had already obtained complete velopharyngeal closure function (VPF) were enrolled. Control data were obtained from the longitudinal files of 20 normal children in Kyushu University Dental Hospital., Main Outcome Measures: Skeletal landmarks and measurements were derived from tracing of lateral roentgenographic cephalograms. The measurements included velar length, pharyngeal depth, and pharyngeal height and the ratio of velar length to pharyngeal depth. Additionally, the configuration of the upper pharynx (pharyngeal triangle) involving the cranial base, cervical vertebrae, and the posterior maxilla and also the position of posterior pharyngeal wall (PPW) in the pharyngeal triangle were analyzed., Results: The VPI group had a significantly shorter velar length and greater pharyngeal depth, resulting in a smaller length/depth ratio than the controls. The points of PPW and cervical vertebrae of the VPI group were located more posteriorly and inferiorly than those in the group with complete VPF after the primary operation and the controls. The positions of cranial base and maxilla were not significantly different. Additionally, the position of PPW in the pharyngeal triangle was located significantly posteriorly and superiorly in the VPI group, compared with the controls., Conclusions: The craniopharyngeal morphology of patients with persistent VPI was characterized by a short palate, wide-based and counterclockwise-rotated pharyngeal triangle, and posteriorly and superiorly positioned PPW. These might be contributory factors for the prediction of VPF before repushback surgery for cleft palate.

Objective: Velocardiofacial syndrome, caused by a deletion on chromosome 22q11.2, is often accompanied by cognitive, behavioral, and psychiatric impairments. Specifically, velocardiofacial syndrome has been proposed as a disease model for a genetically mediated subtype of schizophrenia. Velocardiofacial syndrome is also known to affect brain structure. The most prominent structural findings in velocardiofacial syndrome are reduced white matter volumes. However, the structure of white matter and extent of specific regional involvement in this syndrome have never been investigated. The current study used diffusion tensor imaging to investigate white matter structure in children and young adults with velocardiofacial syndrome., Method: Nineteen participants with velocardiofacial syndrome and 19 age- and gender-matched comparison subjects underwent diffusion-weighted magnetic resonance imaging scans. Whole brain voxel-by-voxel analyses were conducted to investigate white matter fractional anisotropy differences between the groups., Results: Relative to the comparison group, the velocardiofacial syndrome group had reduced white matter anisotropy in the frontal, parietal, and temporal regions as well as in tracts connecting the frontal and temporal lobes., Conclusions: This study demonstrates that alterations of white matter tract structure occur in velocardiofacial syndrome. Reduced white matter anisotropy was observed in individuals with velocardiofacial syndrome in areas previously implicated in the neurocognitive phenotype of velocardiofacial syndrome. The finding of aberrant parietal white matter tracts as well as aberrant frontotemporal connectivity in velocardiofacial syndrome and in previous schizophrenia studies may be associated with increased vulnerability for development of psychotic symptoms.

Velo-cardio-facial syndrome (VCFS) is mostly associated with deletions of chromosome 22q11, and is thought to be characterized by an increased frequency of major psychiatric disorders. Sixteen patients adults with VCFS and psychiatric symptoms were evaluated using a semi-structured investigation of history, symptoms, signs and behaviour. All available data were used in consensus meetings to obtain a classifiable diagnostic category. In contrast to other reports, no categorical diagnosis could be established. Instead, a quite specific psychological, behavioural and psychopathological constellation emerged that should most adequately be denominated as a VCFS-psychiatric syndrome. It is concluded that VCFS is associated with a specific psychopathological syndrome.

Velopharyngeal insufficiency can be treated in different ways. Augmentation injections of various space-filling materials have been tried, but a substance that has the ideal properties--easy to inject, non-toxic, and not immunogenic, and having a lasting effect--has not yet been found. Hylan b gel, a double cross-linked hyaluronan solution, is a new tissue augmentor that is not immunogenic and is easy to use. The purpose of this study was to evaluate the persistence of and the tissue reaction to hylan b gel injected into the posterior pharyngeal wall of 12 rats. Six rats acted as controls. A light immediate, and no late, inflammatory reaction developed in the pharyngeal mucosa after injection. Six months after injection, the gel was still present and the substance had been invaded by and surrounded by newly-formed, loose connective tissue. These results indicate that hylan b gel may be an appropriate substance in the augmentation of mild velopharyngeal insufficiency in man. However, further studies are needed to evaluate its long-term effects.

Objective: The purpose of this study was to investigate the relationship between craniofacial and nasopharyngeal morphology and velopharyngeal function in submucous cleft palate., Design and Patients: Fifty-two lateral cephalometric radiographs of 46 submucous cleft palate (SMCP) patients with velopharyngeal competence (24 patients) and incompetence (22 patients) at 4 and 7 years of age were studied. The patients had not received any surgical or orthodontic treatment prior to cephalography being performed., Results: Significant differences were found between cephalometric variables (N-Ba, N-S-Ba angle) in children with velopharyngeal competence and incompetence. However, the results of our study showed that cephalometric data alone are not useful for predicting velopharyngeal function and can not serve as an absolute prognostic indicator. CONCLUSION;There are many factors that can influence velopharyngeal function in SMCP patients. Cephalometric data did not demonstrate a strong relationship to velopharyngeal function.