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Objective: To explore the role of multidisciplinary velopharyngeal dysfunction (VPD) assessment in diagnosing 22q11.2 deletion syndrome (22q) in children., Design: Retrospective cohort study., Setting: Multidisciplinary VPD clinic at a tertiary pediatric hospital., Patients, Participants: Seventy-five children with genetically confirmed 22q evaluated at the VPD clinic between February 2007 and February 2023, including both previously diagnosed patients and those newly diagnosed as a result of VPD evaluation., Interventions: Comprehensive review of medical records, utilizing ICD-10 codes and an institutional tool for keyword searches, to identify patients and collect data on clinical variables and outcomes., Main Outcome Measures: Characteristics of children with 22q, pathways to diagnosis, and clinical presentations that led to genetic testing for 22q., Results: Of the 75 children, 9 were newly diagnosed with 22q following VPD evaluation. Non-cleft VPI was a significant indicator for 22q in children not previously diagnosed, occurring in 100% of newly diagnosed cases compared to 52% of cases with existing 22q diagnosis ( P  = .008). Additional clinical findings leading to diagnosis included congenital heart disease, craniofacial abnormalities, and developmental delays., Conclusions: VPD evaluations, particularly the presence of non-cleft VPI, play a crucial role in identifying undiagnosed cases of 22q. This underscores the need for clinicians, including plastic surgeons, otolaryngologists, and speech-language pathologists, to maintain a high degree of suspicion for 22q in children presenting with VPI without a clear etiology. Multidisciplinary approaches are essential for early diagnosis and management of this complex condition., Competing Interests: Declaration of Conflicting InterestsThe authors declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Background: Management of velopharyngeal insufficiency (VPI) in 22q11.2 deletion syndrome is challenging. The authors compared pharyngeal flap outcomes in children with 22q11.2 deletion syndrome to those with nonsyndromic cleft lip and palate (CLP) to assess risk of poor speech outcomes and negative sequelae., Methods: Children with 22q11.2 deletion syndrome or CLP treated with pharyngeal flap through a multidisciplinary VPI clinic between 2009 and 2020 were retrospectively reviewed. Preoperative and postoperative speech assessments, perioperative characteristics, and complications were identified., Results: Thirty-six children with 22q11.2 deletion syndrome and 40 with CLP were included. Age at surgery ( P = 0.121), preoperative velopharyngeal competence score ( P = 0.702), and preoperative resonance ( P = 0.999) were similar between groups. Pharyngeal flaps were wider ( P = 0.038) and length of stay longer in the 22q11.2 deletion syndrome group ( P = 0.031). On short-term follow-up 4 months after surgery, similar speech outcomes were seen between groups. At long-term follow-up greater than 12 months after surgery, 86.7% of 22q11.2 deletion syndrome versus 100% of CLP ( P = 0.122) children had improvement in velopharyngeal function; however, fewer children with 22q11.2 deletion syndrome (60.0%) achieved a completely "competent" velopharyngeal competence score compared with those with CLP (92.6%) ( P = 0.016). Nasal regurgitation improved for both groups, with a greater improvement in those with 22q11.2 deletion syndrome ( P = 0.026). Revision rate ( P = 0.609) and new-onset obstructive sleep apnea ( P = 0.999) were similar between groups., Conclusions: Children with 22q11.2 deletion syndrome have improved speech after pharyngeal flap, but they may be less likely to reach normal velopharyngeal function over the long term than those with CLP; however, negative sequelae do not differ. Improvement in nasal regurgitation is a uniquely positive outcome in this population., Clinical Question/level of Evidence: Risk, II., (Copyright © 2023 by the American Society of Plastic Surgeons.)

Background: Vocal fold nodules are the most common etiology of chronic dysphonia in the pediatric population. Voice therapy is an effective first line of treatment, with increasing evidence supporting the use of telepractice in speech pathology. Despite this, there is limited data on its effectiveness in the pediatric population. The aim of this retrospective study was to investigate the feasibility and efficacy of telepractice in delivering voice therapy to children diagnosed with vocal fold nodules., Methods: A retrospective review was conducted of patients treated with virtual voice therapy from April 2020 to June 2021. Patients were included if diagnosed with vocal fold nodules, 2-18 years of age, and completed therapy in a virtual format. Data includes demographics, Consensus Auditory-Perceptual Evaluation of Voice (CAPE-V) scores and pediatric Voice Handicap Index (pVHI) scores., Results: Twenty-three children were included, 17 (74%) male and six (26%) female (with an age range of 2.4-9.9 years at the start of therapy). Prior to treatment, the average CAPE-V Overall Severity score was 37.9 (SD 13.8); the average posttreatment score was 22.4 (SD 10.2). The average pVHI total score prior to treatment was 26.3 (SD 12.1), with an average posttreatment score of 20.2 (SD 11.7). Patients who underwent virtual voice therapy had improved posttreatment CAPE-V severity scores than those prior to treatment (average difference = -15.5 points; 95% CI: -8.3 to -22.7; P < 0.001). An increased number of therapy sessions was associated with both higher initial CAPE-V severity scores (r = 0.72; P < 0.01) and a greater decrease in posttreatment CAPE-V scores (r = -0.55; P < 0.01)., Conclusion: Virtual voice therapy may be feasible and efficacious in treating dysphonic children diagnosed with vocal fold nodules. Significant improvements were found in perceptual CAPE-V scores in overall severity; positive changes were also seen in parental measures of quality of life. Delivery of voice therapy in a telehealth format may increase access of care and should be considered as a treatment option., Competing Interests: Declaration of Competing Interest None., (Copyright © 2021 The Voice Foundation. Published by Elsevier Inc. All rights reserved.)

The reported prevalence of voice disorders in the pediatric population varies widely between studies, ranging from 3.9% to 23%. Despite this, not all children with dysphonia are referred to a voice specialist for further evaluation. The objective of this study is to examine the relationship between dysphonia history, voice assessment, and laryngeal findings to help guide referrals of dysphonic children. A retrospective review was conducted of pediatric patients at a tertiary voice clinic between January 2014 and December 2017. Data including dates of presentation, demographics, co-morbidities, presenting symptoms, laryngeal exam findings, Consensus Auditory-Perceptual Evaluation of Voice (CAPE-V) scores, and Pediatric Voice Handicap Index (pVHI) scores were collected and analyzed. Of 475 patients initially identified, 459 met inclusion criteria and were reviewed. In all, 272 (59.3%) were male and 187 (40.7%) were female. Mean age at first presentation was 8.6 years old (range: 2-18). Males were more likely to present at a younger age than females. CAPE-V data were available for 439 patients, and pVHI data were available for 109 patients. The mean CAPE-V Overall Severity score was 38.2. The mean total pVHI score was 25.4. Males had higher CAPE-V Overall Severity (40.0 vs. 35.4), Roughness (32.2 vs. 27.6), and Strain scores (37.2 vs. 32.4) than females. Patient pVHI scores did not differ by gender. In all, 283 patients self-reported a length of symptoms prior to evaluation. Children with a longer duration of symptoms prior to evaluation had higher CAPE-V Overall Severity scores. Diagnoses of vocal fold movement impairment and benign vocal fold lesions that were not nodules were associated with higher average CAPE-V Overall Severity scores. Overall, 310 patients (67.5%) were recommended intervention for their dysphonia. These patients had higher CAPE-V Overall Severity scores than those who were solely recommended observation (42.8 vs. 28.0). Males were more likely than females to present with dysphonia and presented with more severe perceptual dysphonia scores on average. The length of symptoms and certain diagnoses correlated with higher CAPE-V Scores. Referrals to a pediatric voice clinic should be considered in patients with a dysphonia history lasting greater than 3 months and in patients with more severe symptoms.

Background: The most common etiologies of dysphonia in the pediatric population are vocal fold nodules and muscle tension dysphonia. Vocal therapy is the first line treatment for these disorders in children. Despite this, not all children undergo therapy. The goal of this study is to examine how factors such as patient demographics and parental perceptions differ between children that choose to undergo or not to undergo voice therapy., Methods: A retrospective review was conducted of all pediatric patients seen at a tertiary voice clinic between January 2014 and December 2017. Patients were included if diagnosed with vocal fold nodules and/or muscle tension dysphonia. Patients were divided into groups of children that received voice therapy at our institution and those that did not. Data include demographics, Consensus Auditory-Perceptual Evaluation of Voice (CAPE-V) scores and pediatric Voice Handicap Index (pVHI) scores. Distance to therapy site was approximated using patient zip codes., Results: Three hundred and forty-six children were included, 224 (65%) boys and 122 (35%) girls. In the 2 years following initial diagnosis, 74 (21%) children participated in voice therapy at our institution. Patients who underwent voice therapy were older than those who did not (mean age: 9.1 [SD 3.5] vs 7.6 [SD 3.8] years; P = 0.004). Patients who received voice therapy were more likely to live closer to the therapy site (mean distance: 15.5 [SD 13.0] vs 24.3 [SD 23.9] miles; P< 0.001). Likelihood of receiving voice therapy did not differ by gender or health insurance status (private vs public). Patients who underwent voice therapy had significantly greater CAPE-V Overall Severity scores than those who did not (mean score: 44.6 [SD 19.4] vs 37.4 [SD 18.0]; P = 0.003). Higher CAPE-V Strain scores were associated with increased likelihood of voice therapy. pVHI scores did not differ between the two groups., Conclusion: Older age, shorter distance to therapy site, and increased CAPE-V Overall Severity and Strain scores were associated with higher likelihood of receiving voice therapy. Gender, insurance status, and pVHI scores did not affect likelihood of receiving voice therapy. Patients may primarily consider ease of access and necessity of treatment when considering voice therapy., (Copyright © 2021 The Voice Foundation. Published by Elsevier Inc. All rights reserved.)

Introduction: Down syndrome is the most common chromosomal abnormality and is associated with a higher incidence of congenital heart defects, which often require surgery within the first year of life. Previous studies have found that children with Down syndrome are at higher risk for subglottic stenosis, vocal fold paralysis, and laryngomalacia. The goal of this study is to review children with Down syndrome presenting with dysphonia and to characterize their laryngeal pathologies., Methods: A retrospective review was performed of patients with Down syndrome seen at a tertiary pediatric hospital's department of otolaryngology from Jan. 2007-Jul. 2021 for voice-related concerns. Inclusion criteria included age less than 18 years, diagnosis of Trisomy 21, and complaint of dysphonia. The data extracted included history of dysphonia, co-morbidities, demographic information, age at presentation, perceptual voice assessments, voice quality of life scores, acoustic data, laryngoscopic and/or videostroboscopic exams, and surgical procedures., Results: Twenty-three total patients met the study criteria. Of these children, 13 (57%) were male and 10 (43%) were female. The mean age at first presentation was 4.08 years (range 12 days-16.3 years). Eleven of the 23 patients presented within the first 12 months of life. Sixteen patients were diagnosed with vocal fold immobility, 13 of which were left-sided unilateral immobility and the remaining 3 were bilateral immobility. 5 patients were diagnosed with vocal fold nodules. 12 children in the immobility group had a history of cardiothoracic surgery at our institution. Only 3 patients had Consensus Auditory-Perceptual Evaluation of Voice (CAPE-V) assessments, though all three showed overall dysphonia ratings of severely deviant, with roughness and strain scores being the most severe., Discussion: The most common etiology of dysphonia in our Down syndrome patient population was vocal fold immobility and hypomobility, as opposed to vocal fold nodules (which is the most common in the general pediatric population). The higher likelihood of cardiac surgery in patients with Trisomy 21 may result in the increased incidence of vocal fold immobility. There should be a low threshold to refer dysphonic patients with Down syndrome for laryngoscopic evaluation, as treatment options may be available., (Copyright © 2022 Elsevier B.V. All rights reserved.)

Vocal pitch discrimination abilities were compared in sixteen children with vocal fold nodules (CwVN) and sixteen matched controls with typical voices (CwTV). Vocal pitch discrimination was also evaluated in thirty-five vocally healthy children and twenty adults to examine potential changes as a function of maturation. CwTV were categorized as either younger (N = 15, 5.6-7.7 years) or older (N = 20, 8.2-11.7 years). Participants completed two-alternative, forced choice listening tasks in which they judged whether pairs of sustained /α/ tokens were different in pitch. Each pair consisted of a base token with a fundamental frequency f o ) of 216.2 Hz and a test token with a f o that was adaptively modified, according to the participant's prior judgments. There were no significant differences in pitch discrimination abilities between CwVN and CwTV. Pitch discrimination abilities were significantly poorer in younger and older CwTV as compared to adults. Additionally, younger CwTV had significantly poorer discrimination abilities than older CwTV. Findings from this study suggest that CwVN do not have differences in pitch discrimination abilities, yet, therapies designed for CwVN should consider this developmental trend in perceptual abilities., Competing Interests: Conflicts of Interest: The authors declare no conflict of interest. The funders had no role in the design of the study; in the collection, analyses, or interpretation of data; in the writing of the manuscript, or in the decision to publish the results.

Objectives/hypothesis: To evaluate the endoscopic surgical management of adult subglottic stenosis and describe treatment outcomes., Study Design: Retrospective review., Methods: Ten-year review of adult patients with subglottic stenosis., Results: Ninety-two adults (23 male, 69 female) with subglottic stenosis underwent 247 endoscopic dilations between 2001 and 2010. The mean age was 48 years at time of first surgery. Etiology was GPA (granulomatosis with polyangiitis, formerly Wegener's granulomatosis) (45%), intubation (25%), or idiopathic (33%). Forty-one patients (45%) underwent a single procedure; 51 patients (55%) required multiple surgeries. The average interval for patients requiring a subsequent procedure was 13.7 months. Variations in surgical technique did not show differences in time to next procedure, and the use of mitomycin-C did not result in longer intervals between procedures. No significant complications were encountered after dilation., Conclusions: Subglottic stenosis remains a treatment challenge. Although patients are often symptomatically improved after endoscopic dilation, recurrence rates remain high., (© 2013 The American Laryngological, Rhinological and Otological Society, Inc.)