Background: An early etiological diagnosis of hearing loss positively impacts children's quality of life including language and cognitive development. Even though hearing loss associates with extremely high genetic and allelic heterogeneity, several studies have proven that Next-Generation Sequencing (NGS)-based gene panel testing significantly reduces the time between onset and diagnosis. Methods: In order to assess the clinical utility of our custom NGS GHELP panel, the prevalence of pathogenic single nucleotide variants, indels or copy number variants was assessed by sequencing 171 nuclear and 8 mitochondrial genes in 155 Spanish individuals with hearing loss. Results: A genetic diagnosis of hearing loss was achieved in 34% (52/155) of the individuals (5 out of 52 were syndromic). Among the diagnosed cases, 87% (45/52) and 12% (6/52) associated with autosomal recessive and dominant inheritance patterns respectively; remarkably, 2% (1/52) associated with mitochondrial inheritance pattern. Although the most frequently mutated genes in this cohort were consistent with those described in the literature (GJB2, OTOF or MYO7A), causative variants in less frequent genes such as TMC1, FGF3 or mitCOX1 were also identified. Moreover, 5% of the diagnosed cases (3/52) were associated with pathogenic copy number variants. Conclusion: The clinical utility of NGS panels that allows identification of different types of pathogenic variants-not only single nucleotide variants/indels in both nuclear and mitochondrial genes but also copy number variants-has been demonstrated to reduce the clinical diagnostic odyssey in hearing loss. Thus, clinical implementation of genomic strategies within the regular clinical practice, and, more significantly, within the newborn screening protocols, is warranted.

Introduction: Transimpedance measurements from cochlear implant electrodes have the potential to identify anomalous electrode array placement, such as tip fold-over (TFO) or fold-back, basal electrode kinking, or buckling. Analysing transimpedance may thus replace intraoperative or post-operative radiological imaging to detect any potential misplacements. A transimpedance algorithm was previously developed to detect deviations from a normal electrode position with the aim of intraoperatively detecting TFO. The algorithm had been calibrated on 35 forced, tip folded electrode arrays in six temporal bones to determine the threshold criterion required to achieve a sensitivity of 100%. Our primary objective here was to estimate the specificity of this TFO algorithm in patients, in a prospective study, for a series of electrode arrays shown to be normally inserted by post-operative imaging. Methods: Intracochlear voltages were intraoperatively recorded for 157 ears, using Cochlear's Custom Sound (TM) EP 5 electrophysiological software (Cochlear Ltd., Sydney, NSW, Australia), for both Nucleus (R) CI512 and CI532 electrode arrays. The algorithm analysed the recorded 22 x 22 transimpedance matrix (TIM) and results were displayed as a heatmap intraoperatively, only visible to the technician in the operating theatre. After all clinical data were collected, the algorithm was evaluated on the bench. The algorithm measures the transimpedance gradients and corresponding phase angles (theta) throughout the TIM and calculates the gradient phase range. If this was greater than the predetermined threshold, the algorithm classified the electrode array insertion as having a TFO. Results: Five ears had no intraoperative TIM and four anomalous matrices were identified from heatmaps and removed from the specificity analysis. Using the 148 remaining data sets (n = 103 CI532 and n = 45 CI512), the algorithm had an average specificity of 98.6% (95.80%-99.75%). Conclusion: The algorithm was found to be an effective screening tool for the identification of TFOs. Its specificity was within acceptable levels and resulted in a positive predictive value of 76%, with an estimated incidence of fold-over of 4% in perimodiolar arrays. This would mean 3 out of 4 cases flagged as a fold-over would be correctly identified by the algorithm, with the other being a false positive. The measurements were applied easily in theatre allowing it to be used as a routine clinical tool for confirming correct electrode placement.

Background: Technological developments to treat hearing loss with different types of hearing aids and auditory implants have improved the auditory perception of patients, particularly in highly complex listening conditions. These devices can be fitted and adapted to enhance speech perception. Audiological tests that assess hearing with and without auditory devices have traditionally taken place in sound-attenuated audiometric booths. Although the insights gained from these tests are extremely useful, they do not accurately reflect everyday listening situations, and accurate information about the potential benefits of the hearing device in real acoustic scenarios cannot be established. Consequently, it is difficult to optimize this technology since fitting cannot be customized. Objectives: The aim of this study was to validate an audiological testing method using a new development, the Realistic Environment Audiometric Booth (REAB), in clinical practice. Materials: We used specifically designed software to perform audiological tests in an 8 m(2) sound-attenuated booth. The REAB was designed to conduct audiological tests in standard testing conditions and in new hearing scenarios that simulate real-life situations since sound can be emitted simultaneously or alternately 360 degrees around the patient, along with 3D images. Methods: Prospective study in which subjects were tested randomly in the REAB and the conventional booth (CB) in free field. Results: 150 subjects were recruited, mean age 56 +/- 20.7 years. Auditory outcomes for pure-tone audiometry showed a high correlation; this was also the case for speech audiometries in quiet and in noise. The outcome of the new scenarios with real-life noise was plotted, including the mean values and their confidence intervals. A decreasing trend was observed in the results obtained by the different groups, according to their hearing levels. Conclusions: We have developed and validated a new audiological testing method that enables hearing ability to be assessed in listening conditions similar to those found in real life. The REAB complements the tests performed in CBs, thereby aiding the diagnostic process by reproducing acoustic and visual scenarios that conventional tests do not offer.

Older adults with mild or no hearing loss make more errors and expend more effort listening to speech. Cochlear implants (CI) restore hearing to deaf patients but with limited fidelity. We hypothesized that patient-reported hearing and health-related quality of life in CI patients may similarly vary according to age. Speech Spatial Qualities (SSQ) of hearing scale and Health Utilities Index Mark III (HUI) questionnaires were administered to 543 unilaterally implanted adults across Europe, South Africa, and South America. Data were acquired before surgery and at 1, 2, and 3 years post-surgery. Data were analyzed using linear mixed models with visit, age group (18-34, 35-44, 45-54, 55-64, and 65+), and side of implant as main factors and adjusted for other covariates. Tinnitus and dizziness prevalence did not vary with age, but older groups had more preoperative hearing. Preoperatively and postoperatively, SSQ scores were significantly higher (Delta 0.75-0.82) for those aged <45 compared with those 55+. However, gains in SSQ scores were equivalent across age groups, although postoperative SSQ scores were higher in right-ear implanted subjects. All age groups benefited equally in terms of HUI gain (0.18), with no decrease in scores with age. Overall, younger adults appeared to cope better with a degraded hearing before and after CI, leading to better subjective hearing performance.

Introduction: Cochlear implants have been able to treat some types of hearing loss, but those related to cochlear nerve impairment made it necessary to find new ways to manage these deficits; leading to auditory brainstem implants (ABI). Aim: Our objective is to present the clinical profile of patients treated through an ABI and the results obtained from 1997 to 2017. Material and methods: On the one hand, patients with statoacoustic nerve tumours (VIIIcranial nerve) were selected, and on the other hand, patients withoutVIII tumours with congenital malformations of the inner ear. Before and after the placement of the ABI, hearing was assessed through tonal audiometry, from which the PTA (Pure Tone Average) and the CAP (Categories of Auditory Performance) scale were obtained. Results: A total of 20 patients undergoing ABI surgery were included. Eight were of tumour cause (40%) and 12 non-tumour (60%). In 15 subjects (75%) a suboccipital approach was performed and in 5 (25%) translabyrinthine. The mean of active electrodes before the implantation of Cochlear® (Nucleus ABI24) was 13/21 (61.90%) versus 8.5/12 (70.83%) of the Med-el® (ABI Med-el). An improvement in the mean PTA of 118.49dB was found against 46.55dB at 2years. On the CAP scale, values of1 were obtained in the preimplantation and of 2.57 (1-5) in the 2-year revision. Conclusion: The ABI is a safe option, and with good hearing results when the indication is made correctly.

Purpose To compare the surgical and audiological outcomes with two perimodiolar electrode arrays (Nucleus 512-Contour Advance (R) y Nucleus 532-Slim Perimodiolar (R)) and a straight electrode array (Nucleus 422/522). Methods Patients were retrospectively selected from our cochlear implant program database. Only patients with a history of bilateral, sensorineural postlingually profound hearing loss who underwent cochlear implant surgery with either a N512, a N532 or a N422 were included. Throughout a year of follow-up, pure tone audiometry (PTA), speech perception, Impedances and T-C Thresholds levels were analyzed. Surgical data were also analyzed. Results 66 patients were included (19-CI532, 20-CI512 and 27-CI422). The most common type of cochlea access with the N532, N512 and N422 was through an extended round window, a promontorial cochleostomy and a pure round window, respectively. No significant differences were observed after 12 months in Mean PTA and Speech recognition. No significant differences were seen in the levels of hearing preservation at frequencies of 250 and 500. The average values of the impedances were significantly higher in the CI group N532 and N422 than in the N512. The mean values of the T and C levels were significantly lower in the CI groups N532 and N422 compared with the N512. Conclusions No significant differences were observed after 12 months in Mean PTA and Speech recognition; however, a faster acquisition of auditory results were observed in the group of patients treated with the CI N532. The type of electrode array influences in the type of cochleostomy.

Introduction and goals: During the last decade there have been multiple and relevant advances in conduction and mixed hearing loss treatment. These advances and the appearance of new devices have extended the indications for bone-conduction implants. The Scientific Committee of Audiology of the Sociedad Espanola de Otorrinolaringologia y Cirugia de Cabeza y Cuello SEORL-CCC (Spanish Society of Otolaryngology and Head and Neck Surgery), together with the Otology and Otoneurology Committees, have undertaken a review of the current state of bone-conduction devices with updated information, to provide a clinical guideline on bone-conduction implants for otorhinolaryngology specialists, health professionals, health authorities and society in general. Methods: This clinical guideline on bone-conduction implants contains information on the following: 1) Definition and description of bone-conduction devices; 2) Current and upcoming indications for bone conduction devices: Magnetic resonance compatibility; 3) Organization requirements for a bone-conduction implant programme. Results and conclusions: The purpose of this guideline is to describe the different bone-conduction implants, their characteristics and their indications, and to provide coordinated instructions for all the above-mentioned agents for decision making within their specific work areas.

OBJECTIVES: Bimodal stimulation for asymmetric hearing loss is an emerging treatment with proven audiometric outcomes. Our objectives are to assess the changes of the hearing impairment and the quality of life of patients treated with this type of stimulation, when compared to a unilateral Cochlear Implant (CI) stimulated condition. MATERIALS and METHODS: 31 patients with asymmetric hearing loss (Group 1) were recruited for the study. They were divided into three groups, based on their hearing loss in the ear treated with the hearing aid: Group 1A (Pure Tone Audiometry (PTA) between 41 and 70 decibels (dB)); Group 1B, (PTA between 71 and 80 dB) and Group 1C (PTA between 81 and 90 dB). 30 patients had profound, bilateral hearing loss. Then, users of a unilateral cochlear implant were recruited for the control group. Their hearing impairment and quality of life were analyzed with questionnaires Abbreviated Profile of Hearing Aid Benefit (APHAB), Speech, Spatial and Qualities of Hearing Scale (SSQ) and the Health Utilities Index (HUI). They were followed up for at least 2 years. RESULTS: The group with the asymmetric hearing loss obtains a statistically significant clinical improvement in the APHAB under category "with hearing aid" compared to "without hearing aid". The group with the asymmetric hearing loss benefits more across basically all variables compared with the control group in the SSQ. Group 1A obtains the best outcome of the sample in the HUI. CONCLUSION: Bimodal stimulation and better hearing in the ear treated with the hearing aid reduce hearing impairment and improve the quality of life.

Active middle ear implants are surgically implanted prosthesis, which intend to stimulate the ossicular chain or the inner ear fluids through the oval or round windows. These implants may be useful for the treatment of certain patients with sensorineural hearing loss as well as for conductive or mixed hearing loss. This clinical guide attempts to summarize the current knowledge concerning the basic characteristics and indications of the most commonly used middle ear implants, including Vibrant Soundbrige (Med-el, Innsbruck), Carina (Cochlear, Australia), and CodacsTM. (Cochlear, Australia).