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

Williams

Snodgrass

et al. 2022

Self Cite

This clinical case study describes the velopharyngeal anatomy and physiology in a patient who presented with SATB2-associated syndrome (SAS) and velopharyngeal insufficiency (VPI) in the absence of an overt cleft palate. The clinical presentation, treatment, outcome, and the contribution of anatomical findings from MRI to surgical treatment planning for this rare genetic disorder, SAS, are described. This case study contributes to our current understanding of the anatomy and physiology of the velopharyngeal mechanism in an individual born with SAS and non-cleft VPI. It also details the changes following bilateral buccal myomucosal flaps in this patient.

Section: Discussionmentioning

confidence: 99%

VPI Management in SATB2 Syndrome: Use of MRI to Evaluate Anatomy and Physiology in Non-Cleft VPI

Williams

Snodgrass

et al. 2022

Self Cite

“…Levator muscle diameter may provide an indirect indicator of muscle strength; a thin levator muscle is commonly observed in children with 22q11.2 deletion syndrome. [44][45][46] The oblique coronal images can also be used to evaluate the degree of lateral pharyngeal wall motion during phonation. By comparing rest and sustained phonation images, the oblique coronal images allow description of the attempted velopharyngeal closure pattern (Supplemental Figure 4).…”

Section: Oblique Coronal Rest and Sustained Phonation Imagesmentioning

confidence: 99%

“…Levator muscle diameter may provide an indirect indicator of muscle strength; a thin levator muscle is commonly observed in children with 22q11.2 deletion syndrome. 44–46…”

Section: Interpretation Of Mri Datamentioning

confidence: 99%

Establishing a Clinical Protocol for Velopharyngeal MRI and Interpreting Imaging Findings

Snodgrass

Gilbert

et al. 2022

Self Cite

Traditional imaging modalities used to assess velopharyngeal insufficiency (VPI) do not allow for direct visualization of underlying velopharyngeal (VP) structures and musculature which could impact surgical planning. This limitation can be overcome via structural magnetic resonance imaging (MRI), the only current imaging tool that provides direct visualization of salient VP structures. MRI has been used extensively in research; however, it has had limited clinical use. Factors that restrict clinical use of VP MRI include limited access to optimized VP MRI protocols and uncertainty regarding how to interpret VP MRI findings. The purpose of this paper is to outline a framework for establishing a novel VP MRI scan protocol and to detail the process of interpreting scans of the velopharynx at rest and during speech tasks. Additionally, this paper includes common scan parameters needed to allow for visualization of velopharynx and techniques for the elicitation of speech during scans.

“…22 Static imaging studies have found the levator muscle to be highly dysmorphic in the 22q11.2DS population. [8][9][10][11][12] Specifically, studies have demonstrated that the levator muscle is shorter, thinner, and descends at a more obtuse angle from the cranial base in individuals with 22q11.2DS compared to nonsyndromic groups. We had hypothesized that children with 22q11.2DS would demonstrate minimal levels of levator muscle contraction going from rest to /i/ due to levator muscle dysmorphology and reported hypoplasia.…”

Section: Differences Across Conditionsmentioning

confidence: 99%

“…Static MRI investigations so far in the 22q11.2DS population have reported variations in velopharyngeal muscles among individuals with 22q11.2DS, including a short, thin, asymmetric levator muscle with an increased angle of origin and a significantly shorter origin-to-origin distance. 1,[8][9][10][11][12] However, many of these studies utilized sedation, limiting the analysis of the velopharyngeal port at rest only. There is a continued need for imaging studies to assess both velopharyngeal structures and muscle function.…”

Section: Introductionmentioning

confidence: 99%

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

Kollara

Kirschner

et al. 2022

Self Cite

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.