Pharyngeal Flap Versus Sphincter Pharyngoplasty for the Treatment of Velopharyngeal Insufficiency in 22q11.2 Deletion Syndrome: Preliminary Findings From a Systematic Review.

The purpose of this study was to examine and compare surgical and speech outcomes of the posterior pharyngeal flap and sphincter pharyngoplasty following surgical management of velopharyngeal insufficiency in patients with 22q11.2 deletion syndrome (22q11.2DS). This systematic review followed the Preferred Reporting Items for Systematic Review and Meta-Analyses checklist and guidelines. Selected studies were chosen using a 3-step screening process. The 2 primary outcomes of interest were speech improvement and surgical complications. Preliminary findings based on included studies suggest a slightly higher rate of postoperative complications with the posterior pharyngeal flap in patients with 22q11.2DS but a lower percentage of patients needing additional surgery compared with the sphincter pharyngoplasty group. The most reported postoperative complication was obstructive sleep apnea. Results from this study provide some insight into speech and surgical outcomes following pharyngeal flap and sphincter pharyngoplasty in patients with 22q11.2DS. However, these results should be interpreted with caution due to inconsistencies in speech methodology and lack of detail regarding surgical technique in the current literature. There is a significant need for standardization of speech assessments and outcomes to help optimize surgical management of velopharyngeal insufficiency in individuals with 22q11.2DS.

Assessment of the Velopharyngeal Mechanism at Rest and During Speech in Children With 22q11.2DS: A Cross-Sectional Study.

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.

Velopharyngeal Characteristics in Aarskog-Scott Syndrome: A Case Report.

Aarskog-Scott syndrome (AAS), also known as facio-digito-genital syndrome, is a rare heterogenous syndrome characterized by facial dysmorphism, brachydactyly, and genetic abnormalities. Although severe craniofacial abnormalities have been reported in AAS, little is known about speech and resonance issues in AAS. Specifically, published data to date have only indicated reports of hypernasality associated with a cleft palate in AAS. This case report provides clinical and anatomic information surrounding hypernasal speech in the absence of an overt cleft palate in a patient with AAS.

Interaction of the craniofacial complex and velopharyngeal musculature on speech resonance in children with 22q11.2 deletion syndrome: An MRI analysis.

There are limited MRI studies of craniofacial and velopharyngeal features in children with 22q11.2 deletion syndrome (22q11.2DS) and to date, none have explored the potential relationship between these features and the speech phenotype. The purpose of this study was to examine the relationship between craniofacial and related velopharyngeal structures in children with 22q11.2DS and to assess their correlation to resonance features using an unsedated MRI protocol. Fifteen children with 22q11.2DS and 15 age- and sex-matched controls with normal velopharyngeal anatomy (ages 4-12 years) successfully completed the study. Analysis of covariance was used to compare differences between the experimental (22q11.2DS) and control (children with normal anatomy) groups. Correlation analyses and regression models were also utilized. The 22q11.2DS group demonstrated significantly shorter nasion-to-sella, sella-to-basion, and basion-to-opisthion distances. The anterior cranial base angle was significantly more obtuse. The levator veli palatini (levator) muscle was significantly thinner and shorter, with an obtuse angle of origin in the 22q11.2DS group. Levator length was significantly correlated with the sella-to-basion measure and hypernasality was correlated with levator origin-to-origin distance. Preliminary results from this study indicate a significant association between hypernasality and levator origin-to-origin distance. Findings from the present study, provide an insight into the pathophysiology of velopharyngeal dysfunction related to this clinically complex population.

Differences in the Tensor Veli Palatini Muscle and Hearing Status in Children With and Without 22q11.2 Deletion Syndrome.

PURPOSE: To investigate the dimensions of the tensor veli palatini (TVP) muscle using high image resolution 3-dimensional magnetic resonance imaging (MRI) of the soft palate among children with normal velopharyngeal and craniofacial anatomy and to compare values to individuals with a diagnosis of 22q11.2 deletion syndrome (22q11DS). We also sought to determine whether there is a relationship between hypoplasia of the TVP and severity of middle ear dysfunction and hearing loss. METHODS: Three-dimensional MRI were used to collect and analyze data obtained across 53 children between 4 and 12 years of age, including 40 children with normal velopharyngeal and craniofacial anatomy and 13 children with a diagnosis of 22q11.2 DS. Tensor veli palatini muscle length, thickness, and volume as well as bihamular distance were compared among participant groups. RESULTS: A Welch's t-test revealed that the TVP in participants with 22q11DS is significantly shorter (P = .005, 17.3 vs 19.0 mm), thinner (P < .001, 1.1 vs 1.8 mm), and less voluminous (P < .001, 457.5 vs 667.3 mm3) than participants without 22q11DS. Participants with 22q11DS also had a greater (P = .006, 27.7 vs 24.7 mm) bihamular distance than participants without 22q11DS. There was an inverse relationship between TVP abnormalities noted above and the severity of audiologic and otologic histories. CONCLUSION: The TVP muscle is substantially reduced in volume, length, and thickness in children with 22q11DS. These findings serve as preliminary support for the association of patient hearing and otologic severity and TVP dysmorphology.

Impact of Cranial Base Abnormalities on Cerebellar Volume and the Velopharynx in 22q11.2 Deletion Syndrome.

OBJECTIVE: The purpose of this study was to analyze the relationship between cranial base, cerebellar, craniofacial, and velopharyngeal (VP) variables in individuals with 22q11.2 deletion syndrome (22q11DS). METHODS: Thirteen typically developing healthy children and 13 age- and sex-matched individuals with 22q11DS completed a magnetic resonance imaging scan, which was used to examine craniofacial and VP variables. RESULTS: A statistically significant difference was noted in cerebellum volumes, F1,24 = 7.947, P = .010, posterior nasal spine to posterior pharyngeal wall (PNS-PPW), F1,24 = 4.878, P = .037, nasion-sella-basion (NSB) cranial base angles, F1,24 = 7.253, P = .013, and sella-basion-opisthion (SBO) cranial base angles, F1,24 = 9.134, P = .006, between children with 22q11DS and controls. The cerebellum volume was significantly reduced and cranial base angles were significantly more obtuse in individuals with 22q11DS. In the 22q11DS group, cerebellum volume was significantly correlated with sella-basion (SB) length, osseous pharyngeal depth, the PNS-PPW length, and velar length (P < .05). The PNS-PPW length was correlated with SB length, basion-opisthion length, NSB angle, SBO angle, and the VP ratio (P < .05). CONCLUSION: This study supports previous findings on anatomical differences among individuals with 22q11DS and has expanded our current understanding of the potential relationship between craniofacial and VP variables in at least a subset of children with 22q11DS. Results provide preliminary insights into the potential relationship between a decrease in cerebellar volume, obtuse cranial base angles, and unfavorable VP dimensions.

Velopharyngeal Structural and Muscle Variations in Children With 22q11.2 Deletion Syndrome: An Unsedated MRI Study.

OBJECTIVE: The 22q11.2 deletion syndrome (22q11.2DS) is the most common genetic cause of velopharyngeal dysfunction; however, limited information exists regarding variations in velopharyngeal anatomy in this clinically challenging population. The purpose of this study was to examine velopharyngeal characteristics among young children with 22q11.2DS in comparison to a normative cohort using an innovative, nonsedated magnetic resonance imaging (MRI) scanning protocol. METHODS: Fifteen children with 22q11.2DS and 15 age- and gender-matched controls with normal velopharyngeal anatomy (ages 4-12) successfully completed the MRI protocol. Eighteen velopharyngeal and 2 related craniofacial measures were examined. Analysis of covariance was used to compare differences between the experimental and the control groups. RESULTS: The 22q11.2DS group demonstrated a significantly thinner velum (P < .0005) and a larger pharyngeal depth (P = .007) compared to the matched control group. Findings in the current study also demonstrated that the levator veli palatini muscle is significantly shorter (P = .037) and thinner (P = .025) in the 22q11.2DS cohort, with a significantly shorter origin-to-origin distance (P < .0005) and a greater angle of origin (P = .001) compared to healthy peers. CONCLUSION: Children with 22q11.2DS demonstrated multiple variations that may contribute to velopharyngeal dysfunction by altering the anatomic characteristics of the velopharyngeal port, the levator muscle, and associated structures. This investigation represents the first and largest attempt to characterize velopharyngeal anatomy in children with 22q11.2DS using a nonsedated MRI protocol.

Growth Effects on Velopharyngeal Anatomy From Childhood to Adulthood.

Purpose The observed sexual dimorphism of velopharyngeal structures among adult populations has not been observed in the young child (4- to 9-year-old) population. The purpose of this study was to examine the age at which sexual dimorphism of velopharyngeal structures become apparent and to examine how growth trends vary between boys and girls. Method Static 3-dimensional magnetic resonance imaging velopharyngeal data were collected among 202 participants ranging from 4 to 21 years of age. Participants were divided into 3 groups based on age, including Group 1: 4-10 years of age, Group 2: 11-17 years of age, and Group 3: 18-21 years of age. Nine velopharyngeal measures were obtained and compared between groups. Results Significant sex effects were evident for levator length ( p = .011), origin to origin ( p = .018), and velopharyngeal ratio ( p = .036) for those in Group 2 (11-17 years of age). Sex effects became increasingly apparent with age, with 7 of 9 variables becoming significantly different between male and female participants in Group 3. Boys, in general, displayed a delayed growth peak in velopharyngeal growth compared to girls. Conclusion Results from this study demonstrate the growth of velopharyngeal anatomy with sexual dimorphism becoming apparent predominantly after 18 years of age. However, velopharyngeal variables displayed variable growth trends with some variables presenting sexual dimorphism at an earlier age compared to other velopharyngeal variables.

Evaluating Nasalance Values Among Bilingual Mandarin-English Speakers.

OBJECTIVE: The goals of this research are (1) to establish normative nasalance values for bilingual Mandarin-English speakers and compare values to those of previously reported monolingual Mandarin speakers, and (2) to examine whether sex, age, dialect, and language proficiency affect levels of nasalance among Mandarin-English speakers in both English and Mandarin. DESIGN: All participants recorded the speech stimuli, constructed to include oral sentences, nasal sentences, oronasal sentences, and vowels /ɑ, i, u/ in Mandarin and English. Nasalance measurements were recorded using the Nasometer II 6450. PARTICIPANTS AND SETTING: A total of 45 (20 males and 25 females) native Mandarin speakers between 20 and 54 years of age from mainland China participated in the study. RESULTS: Mean nasalance scores of the Mandarin oral sentence (Mean [M] = 17.64, standard deviation [SD] = 7.33), oronasal sentence (M = 54.62, SD = 7.81), and nasal sentence (M = 68.73, SD = 8.09) are reported. Mean nasalance scores of the English oral sentence (M = 20.02, SD = 7.83), oronasal sentence (M = 58.71, SD = 7.59), and nasal sentence (M = 65.27, SD = 7.45) are reported. A repeated measures analysis of variance showed significant sex difference in nasalance scores for English stimuli ( P = .031) and Mandarin stimuli ( P = .040). There was no significant effects of age, dialect, and language proficiency on Mandarin or English stimuli. CONCLUSIONS: This is the first study to report normative values for Mandarin-English speakers using the Nasometer II. Values reported can be used for objective assessment of bilingual speakers.

Effects of Surgical Intervention and Continuous Positive Airway Pressure Therapy on Velopharyngeal Structure and Function: A Case Report.

Changes to the velum and velopharyngeal muscles following Furlow double-opposing Z-plasty in a 7-year-old female with submucous cleft palate and velopharyngeal dysfunction (VPD) were evaluated. Perceptual, instrumental (ie, nasometry and aerodynamic pressure flow), and research magnetic resonance imaging analyses were used during pre- and postsurgical time points at a university research clinic. Continuous positive airway pressure (CPAP) therapy was trialed following a failed surgery for residual VPD in the patient. Increases in velar length and thickness and decreases in levator veli palatini muscle angle of origin and contraction were observed following the Furlow double-opposing Z-plasty surgery. Variable improvements in residual hypernasality following the home-based CPAP therapy protocol were observed.

Examining age, sex, and race characteristics of velopharyngeal structures in 4- to 9-year old children using magnetic resonance imaging.

OBJECTIVE: The purpose of this study was to quantify the growth of the various craniofacial and velopharyngeal structures and examine sex and race effects. METHODS: Eight-five healthy children (53 White and 32 Black) with normal velopharyngeal anatomy between 4 and 9 years of age who met the inclusion criteria and successfully completed the MRI scans were included in the study. RESULTS: Developmental normative mean values for selected craniometric and velopharyngeal variables by race and sex are reported. Cranial variables (face height, nasion to sella, sella to basion, palate height, palate width) and velopharyngeal variables (levator muscle length, angle of origin, sagittal angle, velar length, velar thickness, velar knee to posterior pharyngeal wall, and posterior nasal spine to levator muscle) demonstrated a trend toward a decrease in angle measures and increase in linear measures as age increased (with the exception of PNS to levator muscle). Only hard palate width and levator muscle length showed a significant sex effect. However, two cranial and six velopharyngeal variables showed a significant race effect. The interactions between sex, race, and age were not statistically significant across all variables, with the exception of posterior nasal spine to posterior pharyngeal wall. CONCLUSION: Findings established a large age and race-specific normative reference for craniometiric and velopharyngeal variables. Data reveal minimal sexual dimorphism variables used in the present study; however, significant racial effects were observed.

Examining a New Method to Studying Velopharyngeal Structures in a Child With 22q11.2 Deletion Syndrome.

Purpose: To date, no studies have imaged the velopharynx in children with 22q11.2 deletion syndrome (22q11.2 DS) without the use of sedation. Dysmorphology in velopharyngeal structures has been shown to have significant negative implications on speech among these individuals. This single case study was designed to assess the feasibility of a child-friendly magnetic resonance imaging (MRI) scanning protocol in this clinically challenging population and to determine the utility of this MRI protocol for future work in this area. Method: One 6-year-old White girl diagnosed with 22q11.2 DS was imaged using a child-friendly, nonsedated MRI protocol. Quantitative and qualitative measures of the velopharyngeal area and associated structures were evaluated, and comparisons were made to age-matched control subjects with normal velopharyngeal anatomy. Results: MRI data were successfully obtained using the child-friendly scanning protocol in the subject in the present study. Quantitative and qualitative differences of the levator muscle and associated velopharyngeal structures were noted. Using these MRI and structural analyses methods, insights related to muscle morphology can be obtained and considered as part of the research and clinical examination of children with 22q11.2 DS. Conclusion: The imaging protocol described in this study presents an effective means to counteract difficulties in imaging young children.

Racial Variations in Velopharyngeal and Craniometric Morphology in Children: An Imaging Study.

PURPOSE: The purpose of this study is to examine craniometric and velopharyngeal anatomy among young children (4-8 years of age) with normal anatomy across Black and White racial groups. METHOD: Thirty-two healthy children (16 White and 16 Black) with normal velopharyngeal anatomy participated and successfully completed the magnetic resonance imaging scans. Measurements included 11 craniofacial and 9 velopharyngeal measures. RESULTS: Two-way analysis of covariance was used to determine the effects of race and sex on velopharyngeal measures and all craniometric measures except head circumference. Head circumference was included as a covariate to control for overall cranial size. Sex did not have a significant effect on any of the craniometric measures. Significant racial differences were demonstrated for face height. A significant race effect was also observed for mean velar length, velar thickness, and velopharyngeal ratio. CONCLUSION: The present study provides separate craniofacial and velopharyngeal values for young Black and White children. Data from this study can be used to examine morphological variations with respect to race and sex.

Effects of gravity on the velopharyngeal structures in children using upright magnetic resonance imaging.

Objective : The influence of gravity on the velopharyngeal structures in children is unknown. The purpose of this study is to compare the velopharyngeal mechanism in the upright and supine positions while at rest and during sustained speech production in children between 4 and 8 years old. Methods : A 0.6 Tesla open-type, multipositional magnetic resonance imaging scanner was used to image subjects in the upright and supine positions. The scanning protocol included a T2 fluid attenuation inversion recovery and an oblique coronal turbo spin echo scan with short scanning durations (7.9 seconds) to enable visualization of the velopharyngeal anatomy during rest and production of sustained /i/ and /s/. Results : The magnetic resonance imaging protocol used for this study enabled successful visualization of the velopharyngeal anatomy in the sagittal and oblique coronal planes at rest and during sustained phonation of /i/ and /s/. Positional differences demonstrated a small nonsignificant (P > .05) variation for velar measures (length, thickness, and height), retrovelar space, and levator veli palatini measures (length and angles of origin). Conclusions : Gravity had a negligible effect on velar length, velar thickness, velar height, retrovelar space, levator muscle length, and levator angles of origin. Supine imaging data can be translated to an upright activity such as speech. This is the first study to provide normative levator muscle lengths for children between 4 and 8 years old. Upright imaging may be a promising tool for difficult-to-test populations.