11 research outputs found

    Variations in Craniofacial and Velopharyngeal Structures Among Individuals with 22q11.2 Deletion Syndrome

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    22q11.2 deletion syndrome is the most common genetic cause of velopharyngeal dysfunction. Studies examining 22q11.2 deletion syndrome have thus far primarily focused on variations in the bony framework. Limited information exists regarding the velopharyngeal muscle variations for this clinically challenging population. However, with advances in MRI, muscle and soft tissue imaging is possible. A series of experiments were thus designed to explore and validate the use of our research methodology on normal control participants and a single participant with 22q11.2 deletion syndrome, before initiating the study on a larger sample of children with 22q11.2 deletion syndrome. The overarching aims of this investigation were to examine craniofacial and velopharyngeal characteristics among children with 22q11.2 deletion syndrome and to determine whether craniofacial measures can predict velopharyngeal structure and muscle configurations in this population. This investigation represents the first large scale attempt to image children with 22q11.2 DS without sedation. The aim of Study I was to validate the use of a supine MRI scanner over an upright scanner to obtain data of interest. Study II was focused on the application of a child-friendly MRI protocol to ensure data collection on young pediatric participants without the use of sedation. The aim of Study III was to translate our child-friendly MRI scanning protocol to a clinical population and assess feasibility in a single participant with 22q11.2 deletion syndrome. Study IV assessed craniofacial and velopharyngeal characteristics among children with 22q11.2 deletion syndrome using the imaging protocol detailed in studies one, two, and three. Results from this study suggest that children with 22q11.2 deletion syndrome have several craniofacial and velopharyngeal characteristics that are significantly different compared to children with normal velopharyngeal anatomy. This investigation describes a safe and effective method to obtain MRI data in a clinically complex population without the use of sedation. Individuals with 22q11.2 deletion syndrome present with unique velopharyngeal muscle variations that may contribute to the high rate of velopharyngeal dysfunction associated with this syndrome

    Variations in Craniofacial and Velopharyngeal Structures Among Individuals with 22q11.2 Deletion Syndrome

    No full text
    22q11.2 deletion syndrome is the most common genetic cause of velopharyngeal dysfunction. Studies examining 22q11.2 deletion syndrome have thus far primarily focused on variations in the bony framework. Limited information exists regarding the velopharyngeal muscle variations for this clinically challenging population. However, with advances in MRI, muscle and soft tissue imaging is possible. A series of experiments were thus designed to explore and validate the use of our research methodology on normal control participants and a single participant with 22q11.2 deletion syndrome, before initiating the study on a larger sample of children with 22q11.2 deletion syndrome. The overarching aims of this investigation were to examine craniofacial and velopharyngeal characteristics among children with 22q11.2 deletion syndrome and to determine whether craniofacial measures can predict velopharyngeal structure and muscle configurations in this population. This investigation represents the first large scale attempt to image children with 22q11.2 DS without sedation. The aim of Study I was to validate the use of a supine MRI scanner over an upright scanner to obtain data of interest. Study II was focused on the application of a child-friendly MRI protocol to ensure data collection on young pediatric participants without the use of sedation. The aim of Study III was to translate our child-friendly MRI scanning protocol to a clinical population and assess feasibility in a single participant with 22q11.2 deletion syndrome. Study IV assessed craniofacial and velopharyngeal characteristics among children with 22q11.2 deletion syndrome using the imaging protocol detailed in studies one, two, and three. Results from this study suggest that children with 22q11.2 deletion syndrome have several craniofacial and velopharyngeal characteristics that are significantly different compared to children with normal velopharyngeal anatomy. This investigation describes a safe and effective method to obtain MRI data in a clinically complex population without the use of sedation. Individuals with 22q11.2 deletion syndrome present with unique velopharyngeal muscle variations that may contribute to the high rate of velopharyngeal dysfunction associated with this syndrome

    Using Synchronized Audio Mapping to Track and Predict Velar and Pharyngeal Wall Locations during Dynamic MRI Sequences

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    Purpose: The purpose of this study is to demonstrate a novel innovative computational modeling technique to 1) track velar and pharyngeal wall movement from dynamic MRI data and to 2) examine the utility of using recorded participant audio signals to estimate velar and pharyngeal wall movement during a speech task. A series of dynamic MRI data and audio acoustic features were used to develop and inform a Hidden Markov Model (HMM) and Mel-Frequency Cepstral Coefficients (MFCC) model.Methods: One adult male subject was imaged using a fast-gradient echo Fast Low Angle Shot (FLASH) multi-shot spiral technique to acquire 15.8 frames per second (fps) of the midsagittal image plane during the production of “ansa.†The nasal surface of the velum and the posterior pharyngeal wall was identified and marked using a novel pixel selection method. The error rate was measured by calculating the accumulation error and through visual inspection.Results: The proposed model traced and animated dynamic articulators during the speech process in real-time with an overall accuracy of 81% considering one pixel threshold. The predicted markers (pixels) segmented the structures of interest in the velopharyngeal area and were able to successfully predict the velar and pharyngeal configurations when provided with the audio signal.Conclusion: This study demonstrates a novel and innovative approach to tracking dynamic velopharyngeal movements. Discussion of the potential application of a predictive model that relies on audio signals to detect the presence of a velopharyngeal gap is discussed

    Effects of Surgical Intervention and Continuous Positive Airway Pressure (CPAP) Therapy on Velopharyngeal Structure and Function: A Single Case Report

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    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 (i.e., nasometry and aerodynamic pressure flow), and research MRI analyses were used during pre- and post-surgical 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

    Effects of Surgical Intervention and Continuous Positive Airway Pressure (CPAP) Therapy on Velopharyngeal Structure and Function: A Single Case Report

    No full text
    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 (i.e., nasometry and aerodynamic pressure flow), and research MRI analyses were used during pre- and post-surgical 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
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