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Objectives/hypothesis: The impact of disease states can be measured using health state utilities, which are values that reflect economic preferences for health outcomes. Utilities for dysphonia have not been studied using direct methods. The objective of this project was to establish the baseline health utilities of mild and severe dysphonia from a societal perspective., Study Design: Direct utility elicitation survey., Methods: Four health states (monocular blindness, binocular blindness, mild dysphonia, and severe dysphonia) were evaluated by a convenience sample of adults recruited from the general public with three computer-aided estimation techniques (visual analog scale [VAS], standard gamble [SG], and time trade-off [TTO]). Standardized descriptions and voice recordings from multiple dysphonic patients were employed. Perfect health was defined as a utility of 1, with death 0. Analysis of variance with post hoc pairwise comparison was used to calculate significant differences between health states., Results: Three hundred participants were surveyed, and 225 (75.0%) responses met quality thresholds. Severe dysphonia (VAS = 48.3, SG = 0.810, TTO = 0.798) was valued significantly worse than monocular blindness (VAS = 56.2, SG = 0.834, TTO = 0.839) on the VAS (P < .001) and equivalent on SG and TTO; it was preferred over binocular blindness (VAS = 25.7, SG = 0.631, TTO = 0.622; P < .001) with all methods. Mild dysphonia evaluated favorably with all methods to the other health states (VAS = 78.5, SG = 0.902, TTO = 0.908; P < .001)., Conclusions: Voice disorders may have a measurable impact on utility, with severe dysphonia valued equivalently to monocular blindness. Mild dysphonia has a utility decrement from perfect health. These estimates are critical for quality-of-life assessment and could be used to assess cost-effectiveness of treatments for voice disorders., Level of Evidence: NA Laryngoscope, 130:1256-1262, 2020., (© 2019 The American Laryngological, Rhinological and Otological Society, Inc.)

Objective: Spasmodic dysphonia is a focal dystonia of the larynx with heterogeneous manifestations and association with familial risk factors. There are scarce data to allow precise understanding of etiology and pathophysiology. Screening for dystonia-causing genetic mutations has the potential to allow accurate diagnosis, inform about genotype-phenotype correlations, and allow a better understanding of mechanisms of disease., Study Design: Cross-sectional study., Setting: Tertiary academic medical center., Subjects and Methods: We enrolled patients presenting with spasmodic dysphonia to the voice clinic of our academic medical center. Data included demographics, clinical features, family history, and treatments administered. The following genes with disease-causing mutations previously associated with spasmodic dysphonia were screened: TOR1A (DYT1), TUBB4 (DYT4), and THAP1 (DYT6)., Results: Eighty-six patients were recruited, comprising 77% females and 23% males. A definite family history of neurologic disorder was present in 15% (13 of 86). Average age (± standard deviation) of symptom onset was 42.1 ± 15.7 years. Most (99%; 85 of 86) were treated with botulinum toxin, and 12% (11 of 86) received oral medications. Genetic screening was negative in all patients for the GAG deletion in TOR1A (DYT1) and in the 5 exons currently associated with disease-causing mutations in TUBB4 (DYT4). Two patients tested positive for novel/rare variants in THAP1 (DYT6)., Conclusion: Genetic screening targeted at currently known disease-causing mutations in TOR1A, THAP1, and TUBB4 appears to have low diagnostic yield in sporadic spasmodic dysphonia. In our cohort, only 2 patients tested positive for novel/rare variants in THAP1. Clinicians should make use of genetic testing judiciously and in cost-effective ways., (© American Academy of Otolaryngology—Head and Neck Surgery Foundation 2016.)

Objective: A variety of materials as well as approaches have been used to treat glottic insufficiency, but the ideal procedure has yet to be determined. The goal of this study was evaluate the safety and efficacy of cross-linked hyaluronic acid (Restylane) for office-based injection laryngoplasty for the treatment of vocal fold (VF) immobility., Study Design: Retrospective chart review., Methods: Twenty-seven patients were with diagnosed VF immobility. Twenty-five received Restylane VF injections in the office setting via percutaneous, trans-thyrohyoid injection with distal chip endoscopic guidance. Two patients received injections using suspension microlaryngoscopy under general anesthesia. Voice outcomes were followed using the Voice-Related Quality of Life Survey and the Voice Outcome Survey., Results: Four patients were lost to follow-up immediately after injection. 20 of 23 patients (87%) reported subjective improvement in voice. Analysis of subjective surveys from nine patients revealed a trend toward improvement of V-RQOL from 34 to 23 (P = 0.083) but did not reach significance. After compilation of all VOS questions, 69% of all follow-up responses noted improvement of symptoms, 24% were unchanged and 7% were worse., Conclusions: Office-based injection laryngoplasty with Restylane appears to be a safe procedure that improves vocal function in patients with glottal insufficiency due to impaired VF mobility. Further studies are required to quantify the benefits and to compare the effects with other injectable materials.