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Objectives: Genetic testing is the standard-of-care for diagnostic evaluation of bilateral, symmetric, sensorineural hearing loss (HL). We sought to determine the efficacy of a comprehensive genetic testing method, exome sequencing (ES), in a heterogeneous pediatric patient population with bilateral symmetric, bilateral asymmetric, and unilateral HL., Methods: Trio-based ES was performed for pediatric patients with confirmed HL including those with symmetric, asymmetric, and unilateral HL., Results: ES was completed for 218 probands. A genetic cause was identified for 31.2% of probands (n = 68). The diagnostic rate was 40.7% for bilateral HL, 23.1% for asymmetric HL, and 18.3% for unilateral HL, with syndromic diagnoses made in 20.8%, 33.3%, and 54.5% of cases in each group, respectively. Secondary or incidental findings were identified in 10 families (5.52%)., Conclusion: ES is an effective method for genetic diagnosis for HL including phenotypically diverse patients and allows the identification of secondary findings, discovery of deafness-causing genes, and the potential for efficient data re-analysis., Level of Evidence: 4 Laryngoscope, 133:2417-2424, 2023., (© 2022 The American Laryngological, Rhinological and Otological Society, Inc.)

We assessed the use of a microswitch-based program for promoting ambulation responses by two children with multiple disabilities. The goals of the study were to: (a) evaluate the importance of the contingency between the target behavior (forward step) and the programmed consequence (preferred stimuli), (b) measure effects of the intervention on indices of happiness, and (c) assess the social validation of the procedure using 20 physiotherapists as external raters. The intervention involved the automatic delivery of preferred stimuli contingent on forward steps. Results showed that both participants improved their performance (forward steps and indices of happiness) during contingent reinforcement phases compared to baseline and noncontingent reinforcement phases. Moreover, physiotherapists rated the intervention as socially valid., (© 2017 Society for the Experimental Analysis of Behavior.)