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

Kollara, Lakshmi; Schenck, Graham C.; Jaskolka, Michael S.; Perry, Jamie L.

doi:10.1044/2016_jslhr-s-16-0084

Cited by 12 publications

(11 citation statements)

References 15 publications

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“…All participants completed an MRI safety screening prior to approaching the magnet. A child-friendly MRI protocol was utilized to prevent potential pitfalls associated with MRI (Kollara and Perry, 2014; Kollara et al, 2016; Kollara et al, 2017). The participants listened to the sounds of the MRI scanner by listening to audio samples of MRI noise played on an iPad and were encouraged to watch the participant being imaged before them.…”

Section: Methodsmentioning

confidence: 99%

“…The use of a laryngeal mask airway, commonly used with sedation, distorts the oral and pharyngeal structures and can produce variations in velar measurements (Perry et al, 2011). Kollara et al (2017) published a case study examining the feasibility of a child-friendly scanning protocol on imaging a single child with 22q11.2DS, without the use of sedation. Preliminary data revealed the levator muscle to be shorter and demonstrate a U-shaped configuration.…”

Section: Introductionmentioning

confidence: 99%

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

Kollara

Baylis

Kirschner

et al. 2019

The Cleft Palate Craniofacial Journal

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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.

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Section: Methodsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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

Kollara

Baylis

Kirschner

et al. 2019

The Cleft Palate Craniofacial Journal

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“…However, even with a negative hearing history, participants with 22q11DS still demonstrated hypoplasia of the TVP. Hypoplasia of the levator muscle has also been reported in the literature as an associated feature of patients with 22q11DS (Kollara et al, 2017). Fuchs et al (2015) observed a relationship between OME and a hypoplastic levator muscle using 2 mice models of 22q11DS ( Df1/+ and Tbx1 +/− ).…”

Section: Discussionmentioning

confidence: 75%

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

Perry

Kotlarek

Spoloric

et al. 2019

The Cleft Palate-Craniofacial Journal

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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.

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“…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

Perry

Kirschner

et al. 2022

The Cleft Palate Craniofacial Journal

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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.

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

Abstract: The imaging protocol described in this study presents an effective means to counteract difficulties in imaging young children.

Cited by 12 publications

References 15 publications

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

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

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

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

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