Clinical Significance of the Levator Veli Palatini Muscle in Velocardiofacial Syndrome Patients

Myung, Yujin; Ahn, Taeseon; Kim, Baek Kyu; Jeong, Jae Hoon; Baek, Rong Min

doi:10.1177/1055665617732786

Cited by 5 publications

(6 citation statements)

References 30 publications

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“…performed perceptual speech evaluation in patients suspected to have VPI after they were able to speak continuous sentences. The specific details about the therapy was explained in our previous article 13–16 . The perceptual speech evaluation was performed using universal parameters and the rating system described by Henningsson, consisting of hypernasality, hyponasality, nasal emission, articulation errors, and intelligibility 17 .…”

Section: Methodsmentioning

confidence: 99%

“…The specific details about the therapy was explained in our previous article. [13][14][15][16] The perceptual speech evaluation was performed universal parameters and the rating system described by Henningsson, consisting of hypernasality, hyponasality, nasal emission, articulation errors, and intelligibility. 17 However, for preparing pharyngeal flap surgery, the authors focused on velopharyngeal competency and related hyper/hyponasality and nasal emission.…”

Section: Patientsmentioning

confidence: 99%

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Precision Pharyngeal Flap: An Individualized, Patient-Specific Surgery for the Treatment of Velopharyngeal Insufficiency

Baek

Kim

Kwon

et al. 2021

Journal of Craniofacial Surgery

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Background:The pharyngeal flap is one of the most common secondary surgeries for the correction of velopharyngeal insufficiency (VPI) for patients with cleft palate and/or cleft lip and palate. This study aimed to demonstrate the effectiveness of the precision pharyngeal flap surgery performed by the senior author. Materials and Methods: Children with VPI, who underwent precision pharyngeal flap, were retrospectively examined. All surgical procedures were performed by the senior author. The flap size was individually configured based on the patients' preoperative nasopharyngoscopic analysis and speech function evaluation. Pre-and post-operative velopharyngeal functions were assessed using perceptual speech evaluation and nasometric analysis; factors affecting surgical outcomes were determined. Results: Of 138 patients, 112 (women: 53, men: 59) were included in analyses, according to the inclusion and exclusion criteria. The median follow-up period was 21 months (range: 9-120). Postoperative perceptual speech evaluation revealed improved velopharyngeal function in 108 (96.4%). There were no reports of postoperative hyponasality (preoperative, 1.8% versus postoperative, 0%; P ¼ 0.053). Other parameters of perceptual speech evaluation (hypernasality, nasal emission, articulation error, and intelligibility) showed significant improvement postoperatively (P < 0.01). Postoperative nasalance scores revealed sufficient postoperative resonance rating in 96% of patients. No patients experienced postoperative complications (bleeding, airway obstruction, and surgical wound dehiscence).Conclusions: Individually configured pharyngeal flaps designed based on preoperative nasopharyngoscopic examination coupled with precise surgical techniques led to the high surgery success rate for VPI treatment.

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Section: Methodsmentioning

confidence: 99%

Section: Patientsmentioning

confidence: 99%

Precision Pharyngeal Flap: An Individualized, Patient-Specific Surgery for the Treatment of Velopharyngeal Insufficiency

Baek

Kim

Kwon

et al. 2021

Journal of Craniofacial Surgery

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“…The most common among these is congenital heart disease, which is found in approximately 70% of children with VCFS according to a study by Young et al [26]. Palatal anomalies and accompanying velopharyngeal insu ciency are relatively common in patients with VCFS, and early surgical intervention and speech therapy for speech disability are particularly important for future speech development and social behavior, as noted in the studies of Lachman et al [27]. VCFS is also associated with various anomalies, including vascular, ocular, cranial, and limb abnormalities, as well as possible psychiatric disorders [28].…”

Section: Discussionmentioning

confidence: 99%

Diagnosis and Screening of Velocardiofacial Syndrome by Evaluating Facial Photographs Using a Deep Learning-Based Algorithm

Baek

Cho

Chung

et al. 2023

Preprint

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Purpose: The early detection and diagnosis of rare genetic diseases are crucial for maintaining patient health and well-being. However, the diagnosis of said diseases can be challenging owing to their rarity, limited clinical experience of physicians, and specialized facilities required for diagnosis. In recent years, deep learning algorithms have been investigated as a potential strategy for the efficient and accurate diagnosis of these diseases. Herein, we used the deep learning algorithm of multitask cascaded convolutional neural networks (MTCNN) to develop a face recognition model for the diagnosis of velocardiofacial syndrome (VCFS). Methods: We trained the model on a publicly available labeled face dataset and evaluated its performance. Subsequently, we analyzed the binary classification performance of diagnosing VCFS using the most efficient face recognition model. The facial images of 98 patients with VCFS and 91 non-VCFS controls who visited Seoul National University were used to create training and test sets. Moreover, we analyzed whether the classification results matched the known facial phenotype of patients with VCFS. Results: The facial recognition model showed high accuracy, ranging from 94.03% to 99.78%, depending on the training dataset. In contrast, the accuracy of the binary classification model for the diagnosis of VCFS varied from 80.82% to 88.02% when evaluating with photographs taken at various angles of the patient depending on the structure. When only evaluating frontal photographs, the accuracy was 95.00%. Moreover, the importance level analyzed through the gradient-weighted class activation mapping heatmap showed the characteristic parts of perinasal and periorbital area to be consistent with the conventional facial phenotypes of VCFS. Conclusion: We attempted to diagnose the patients' genetic syndrome using MTCNN-based deep learning algorithms only with the photos of the faces of patients with VCFS. We obtained high accuracy, and deep learning-based diagnosis has been conformed to be greatly helpful for medical staff in the early detection and diagnosis of children with rare genetic diseases, enabling them to provide treatment in a timely manner.

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“…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%

Establishing a Clinical Protocol for Velopharyngeal MRI and Interpreting Imaging Findings

Perry

Snodgrass

Gilbert

et al. 2022

The Cleft Palate Craniofacial Journal

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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.

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Clinical Significance of the Levator Veli Palatini Muscle in Velocardiofacial Syndrome Patients

Abstract: Thinned levator veli palatini muscle in velocardiofacial syndrome patients are related to widened velopharyngeal gap and production of hypernasal speech, and can give negative impact on postoperative surgical outcome of pharyngeal flap surgery.

Cited by 5 publications

References 30 publications

Precision Pharyngeal Flap: An Individualized, Patient-Specific Surgery for the Treatment of Velopharyngeal Insufficiency

Precision Pharyngeal Flap: An Individualized, Patient-Specific Surgery for the Treatment of Velopharyngeal Insufficiency

Diagnosis and Screening of Velocardiofacial Syndrome by Evaluating Facial Photographs Using a Deep Learning-Based Algorithm

Establishing a Clinical Protocol for Velopharyngeal MRI and Interpreting Imaging Findings

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