AbstractPurposeTo provide physicians and patients with the tools needed to evaluate patients’ problems and health-related quality of life by cross-culturally adapting and validating the Chronic Otitis Media Questionnaire 12 (COMQ-12), the Dizziness Handicap Inventory (DHI), the Neuropsychological Vertigo Inventory (NVI) and the Tinnitus Handicap Inventory (THI).Materials and methodsCOMQ-12, DHI, NVI and THI were translated into the Slovenian language and completed by patients treated at our department for chronic otitis media, vertigo or tinnitus. The control group for each questionnaire consisted of healthy volunteers. Internal consistency, test-retest reliability, discriminant validity, diagnostic accuracy and cut-off value were determined for each questionnaire.ResultsTest-retest reliability was excellent for DHI (ICC A=0.946) and NVI (p=0.315, ICC A=0.975), good to excellent for COMQ-12 (p=0.680, ICC A=0.858) and satisfactory for THI (p=0.120). Discriminant validity was confirmed for each questionnaire (p>0.05) using the Mann-Whitney U test (COMQ-12, DHI, THI) or the Welch t-test (NVI). COMQ-12 had acceptable (α=0.796) and DHI (α=0.910), NVI (α=0.950) and THI (α=0.924) perfect internal consistency. COMQ-12 and DHI had excellent, NVI acceptable and THI perfect diagnostic accuracy (AUC=0.987, AUC=0.999, AUC=0.781 and AUC=1.000 respectively). Cut-off values determined by Youden’s index were 7, 7, 9 and 56 for COMQ-12, THI, DHI and NVI, respectively.ConclusionSlovenian COMQ-12, DHI, NVI and THI are a valid and accurate tool for the diagnosis and measurement of health-related quality of life in patients with chronic otitis media, vertigo and tinnitus. They could aid general practitioners, occupational health specialists, neurologists and otorhinolaryngologists.

A tablet-based language-independent self-test involving the recognition of ecological sounds in background noise, the Sound Ear Check (SEC), was adapted to make it feasible for young children. Two experiments were conducted. The first experiment investigated the SEC‘s feasibility, as well as its sensitivity and specificity for detecting childhood hearing loss with a monaural adaptive test procedure. In the second experiment, the SEC sounds, noise, and test format were adapted based on the findings of the first experiment. The adaptations were combined with three test procedures, one similar to the one used in Experiment 1, one presenting the sounds dichotically in diotic noise, and one presenting all the sounds with a fixed signal-to-noise ratio and a stopping rule. Results in young children show high sensitivity and specificity to detect different grades of conductive and sensorineural hearing loss (70–90%). When using an adaptive, monaural procedure, the test duration was approximately 6 min, and 17% of the results obtained were unreliable. Adaptive staircase analyses showed that the unreliable results probably occur due to attention/motivation loss. The test duration could be reduced to 3-4 min with adapted test formats without decreasing the test-retest reliability. The unreliable test results could be reduced from 17% to as low as 5%. However, dichotic presentation requires longer training, reducing the dichotic test format‘s feasibility.

Hearing loss is one of the most common sensory deficits. It carries severe medical and social consequences, and therefore, universal newborn hearing screening was introduced at the beginning of this century. Affected patients can have hearing loss as a solitary deficit (non-syndromic hearing loss) or have other organs affected as well (syndromic hearing loss). In around 60% of cases, congenital hearing loss has a genetic etiology, where disease-causing variants can change any component of the hearing pathway. Genetic testing is usually performed by sequencing. Sanger sequencing enables analysis of the limited number of genes strictly preselected according to the clinical presentation and the prevalence among the hearing loss patients. In contrast, next-generation sequencing allows broad analysis of the numerous genes related to hearing loss, exome, or the whole genome. Identification of the genetic etiology is possible, and it makes the foundation for the genetic counselling in the family. Furthermore, it enables the identification of the comorbidities that may need a referral for specialty care, allows early treatment, helps with identification of candidates for cochlear implant, appropriate aversive/protective management, and is the foundation for the development of novel therapeutic options.