HDR syndrome: Large cohort and systematic review.

HDR syndrome is a rare disease characterized by hypoparathyroidism, deafness, and renal dysplasia. An autosomal dominant disease caused by heterozygous pathogenic GATA3 variants, the penetrance of each associated condition is variable. Literature reviews have provided some answers, but many questions remain, in particular what the relationship is between genotype and phenotype. The current study examines 28 patients with HDR syndrome combined with an exhaustive review of the literature. Some conditions such as hearing loss are almost always present, while others described as rare initially, do not seem to be so rare after all (genital malformations and basal ganglia calcifications). By modeling pathogenic GATA3 variants found in HDR syndrome, we found that missense variations appear to always be located in the same area (close to the two Zinc Finger domain). We describe new pathogenic GATA3 variants, of which some seem to always be associated with certain conditions. Many audiograms were studied to establish a typical audiometric profile associated with a phenotype in HDR. As mentioned in the literature, hearing function should always be assessed as early as possible and follow up of patients with HDR syndrome should include monitoring of parathyroid function and vesicoureteral reflux in order to prevent complications.

Predicting Matrix test effectiveness for evaluating auditory performance in noise using pure-tone audiometry and speech recognition in quiet in cochlear implant recipients.

INTRODUCTION: Auditory performance in noise of cochlear implant recipients can be assessed with the adaptive Matrix test (MT); however, when the speech-to-noise ratio (SNR) exceeds 15 dB, the background noise has any negative impact on the speech recognition. Here, we aim to evaluate the predictive power of aided pure-tone audiometry and speech recognition in quiet, and establish cut-off values for both tests that indicate whether auditory performance in noise can be assessed using the Matrix sentence test in a diffuse noise environment. METHODS: Here, we assessed the power of pure-tone audiometry and speech recognition in quiet to predict the response to the MT. Ninety-eight cochlear implant recipients were assessed using different sound processors from Advanced Bionics (n=56) and Cochlear (n=42). Auditory tests were performed at least 1-year after cochlear implantation or upgrading the sound processor to ensure the best benefit of the implant. Auditory assessment of the implanted ear in free-field conditions included: pure-tone average (PTA), speech discrimination score (SDS) in quiet at 65 dB, and speech recognition threshold (SRT) in noise that is the SNR at which the patient can correctly recognize 50% of the words using the MT in a diffuse sound field. RESULTS: The SRT in noise was determined in sixty patients (61%) and undetermined in 38 (39%) using the MT. When cut-off values for PTA <36 dB and SDS >41% were used separately, they were able to predict a positive response to the MT in 83% of recipients; using both cut-off values together, the predictive value reached 92%. DISCUSSION/CONCLUSION: As the pure-tone audiometry is standardized universally and the speech recognition in quiet could vary depending on the language used; we propose that the MT should be performed in recipients with PTA <36 dB, and in recipients with PTA >36 dB, a list of Matrix sentences at a fixed SNR should be presented to determine the percentage of words understood. This approach should enable clinicians to obtain information about auditory performance in noise whenever possible.

Long-term clinical and radiological results for fat graft obliteration in subtotal petrosectomy and cochlear implant surgery: a retrospective clinical study.

PURPOSE: The study aimed to evaluate the long-term clinical, radiological, and functional results for subtotal petrosectomy and cochlear implant surgery with closure of the external auditory canal and fat obliteration. METHODS: We retrospectively included all consecutive cases of simultaneous subtotal petrosectomy and cochlear implant surgery performed at a tertiary referral center between 2009 and 2016 using the same surgical technique. All patients underwent postoperative high-resolution computed tomography (HRCT) and annual audiological assessments. A 5-year minimum clinical, radiological, and audiological follow-up was performed. The early and late postoperative results were compared. The main outcome measures were complications, postauricular retraction, fat graft reabsorption, and audiological outcomes. RESULTS: Twenty-nine procedures performed in 23 patients (six bilateral) met the inclusion criteria. The mean age of the patients was 67 ± 13.4 years and mean follow-up duration was 7.5 ± 2 years. At follow-up, postauricular retraction was detected in 24 cases (82.8%), including five cases (17.1%) with subcutaneous protrusion of implant and array. Fat graft volume was significantly reduced at late-HRCT in terms of maximum diameter (2.24 ± 1.0 cm vs 3.69 ± 0.7 cm; p < 0.0005) and surface area (1.88 ± 1.2 vs 4.24 ± 1.6 cm2, p < 0.0005). Six patients had extracochlear electrodes at late-HRCT (3/6 had an increased number of extracochlear electrodes), with a lowering of this group's performance of - 15% (p < 0.005) in the follow-up speech comprehension test. CONCLUSIONS: Subtotal petrosectomy with cochlear implantation is an effective long-term technique in selected cases. Fat grafts showed significant reabsorption at long-term follow-up with reaeration of the middle ear spaces. Prolonged clinical and radiological follow-up is recommended for monitoring implant performances and late complications.

Auditory outcomes after scala vestibuli array insertion are similar to those after scala tympani insertion 1 year after cochlear implantation.

PURPOSE: In cochlear implantation, a scala vestibuli (SV) insertion of an electrode array is a rare occurrence and is reported to be linked to poor hearing outcomes. Using the same electrode array, the auditory performance of patients with a complete SV location was compared with that of patients having a complete scala tympani (ST) location 1 year after implantation. METHODS: Thirty-three patients were included in this retrospective case-control study (SV, n = 12; ST, n = 21). The matching criteria were electrode array type, age at implantation, and duration of severe or profound deafness. The array location was analyzed using 3D reconstruction of postoperative CT scans. Postoperative audiological evaluation of the implanted ear was performed using pure-tone audiometry, speech recognition of monosyllabic words in quiet, and words and sentences in noise. RESULTS: On the preoperative CT scan, six patients in the SV group presented with both round window (RW) and ST ossification, three with RW ossification alone, and three with no RW ossification. Auditory performance did not differ between SV and ST groups 1 year after cochlear implantation. Speech recognition of words was 49 ± 7.6% and 56 ± 5.0% in quiet and 75 ± 9.5% and 66 ± 6.0% in noise in SV and ST groups, respectively. CONCLUSION: ST insertion is the gold standard that allows the three cochlear scalae to preserve scalar cochlear integrity. However, 1 year after implantation, a planned or unexpected SV insertion is not detrimental to hearing outcomes, providing similar auditory performance in quiet and noise to ST insertion.

Atraumatic Insertion of a Cochlear Implant Pre-Curved Electrode Array by a Robot-Automated Alignment with the Coiling Direction of the Scala Tympani.

INTRODUCTION: Electrode array translocation is an unpredictable event with all types of arrays, even using a teleoperated robot in a clinical scenario. We aimed to compare the intracochlear trauma produced by the HiFocus™ Mid-Scala (MS) electrode array (Advanced Bionics, Valencia, CA, USA) using a teleoperated robot, with an automated robot connected to a navigation system to align the pre-curved tip of the electrode array with the coiling direction of the scala tympani (ST). METHODS: Fifteen freshly frozen temporal bones were implanted with the MS array using the RobOtol® (Collin, Bagneux, France). In the first group (n = 10), the robot was teleoperated to insert the electrode array into the basal turn of the ST under stereomicroscopic vision, and then the array was driven by a slow-speed hydraulic insertion technique with an estimated placement of the pre-curved electrode tip. In the second group (n = 5), 3 points were obtained from the preoperative cone-beam computed tomography: the 2 first defining the ST insertion axis of the basal turn and a third one at the center of the ST at 270°. They provided the information to the automated system (RobOtol® connected with a navigation system) to automatically align the electrode array with the ST insertion axis and to aim the pre-curved tip toward the subsequent coiling of the ST. After this, the electrode array was manually advanced. Finally, the cochleae were obtained and fixed in a crystal resin, and the position of each electrode was determined by a micro-grinding technique. RESULTS: In all cases, the electrode array was fully inserted into the cochlea and the depth of insertion was similar using both techniques. With the teleoperated robotic technique, translocations of the array were observed in 7/10 insertions (70%), but neither trauma nor array translocation occurred with automated robotic insertion. CONCLUSION: We have successfully tested an automated insertion system (robot + navigation) that could accurately align a pre-curved electrode array to the axis of the basal turn of the ST and its subsequent coiling, which reduced intracochlear insertion trauma and translocation.

Cochlear Implant Outcomes in Patients with Neurosarcoidosis.

INTRODUCTION: Audiovestibular symptoms are rare in sarcoidosis, but they may also be the first manifestation of the disease. Sudden or progressive bilateral hearing loss is usually associated with vestibular impairment. The mechanism of hearing loss remains unclear, but clinical presentation and magnetic resonance imaging suggest a retrocochlear site for the lesion in most patients. Several cases of hearing recovery after corticosteroid treatment have been reported. In patients with severe or profound hearing loss, the benefit of cochlear implantation is challenging to predict in the case of auditory neuropathy and is rarely described. We present a case series of cochlear implantation in patients with documented neurosarcoidosis. RESULTS: Seven cases of cochlear implantation in 4 patients with neurosarcoidosis are reported. All of the patients showed a great improvement very quickly in both quiet and noise. Speech performance remained stable over time with a follow-up ranging from 4 to 11 years, even in patients who had disease exacerbation. CONCLUSION: Cochlear implantation is possible in deaf patients with neurosarcoidosis. The excellent benefit obtained in our patients suggests a particular type of neuropathy, but endocochlear involvement cannot be entirely ruled out.

Cochlear Implantation and Other Treatments in Single-Sided Deafness and Asymmetric Hearing Loss: Results of a National Multicenter Study Including a Randomized Controlled Trial.

INTRODUCTION: Cochlear implantation is a recent approach proposed to treat single-sided deafness (SSD) and asymmetric hearing loss (AHL). Several cohort studies showed its effectiveness on tinnitus and variable results on binaural hearing. The main objective of this study is to assess the outcomes of cochlear implantation and other treatment options in SSD/AHL on quality of life. METHODS: This prospective multicenter study was conducted in 7 tertiary university hospitals and included an observational cohort study of SSD/AHL adult patients treated using contralateral routing of the signal (CROS) hearing aids or bone-anchored hearing systems (BAHSs) or who declined all treatments, and a randomized controlled trial in subjects treated by cochlear implantation, after failure of CROS and BAHS trials. In total, 155 subjects with SSD or AHL, with or without associated tinnitus, were enrolled. After 2 consecutive trials with CROS hearing aids and BAHSs on headband, all subjects chose any of the 4 treatment options (abstention, CROS, BAHS, or cochlear implant [CI]). The subjects who opted for a CI were randomized between 2 arms (CI vs. initial observation). Six months after the treatment choice, quality of life was assessed using both generic (EuroQoL-5D, EQ-5D) and auditory-specific quality-of-life indices (Nijmegen Cochlear implant Questionnaire [NCIQ] and Visual Analogue Scale [VAS] for tinnitus severity). Performances for speech-in-noise recognition and localization were measured as secondary outcomes. RESULTS: CROS was chosen by 75 subjects, while 51 opted for cochlear implantation, 18 for BAHSs, and 11 for abstention. Six months after treatment, both EQ-5D VAS and auditory-specific quality-of-life indices were significantly better in the "CI" arm versus "observation" arm. The mean effect of the CI was particularly significant in subjects with associated severe tinnitus (mean improvement of 20.7 points ± 19.7 on EQ-5D VAS, 20.4 ± 12.4 on NCIQ, and 51.4 ± 35.4 on tinnitus). No significant effect of the CI was found on binaural hearing results. Before/after comparisons showed that the CROS and BAHS also improved significantly NCIQ scores (for CROS: +7.7, 95% confidence interval [95% CI] = [4.5; 10.8]; for the BAHS: +14.3, 95% CI = [7.9; 20.7]). CONCLUSION: Cochlear implantation leads to significant improvements in quality of life in SSD and AHL patients, particularly in subjects with associated severe tinnitus, who are thereby the best candidates to an extension of CI indications.

Benefits in noise from sound processor upgrade in thirty-three cochlear implant users for more than 20 years.

PURPOSE: Some oldest patients rehabilitated with a cochlear implant more than 20 years ago could still be upgraded with new generations of speech processor (SP). The aim of this study was to show the benefit of a recent generation of SP in this population. METHODS: A monocentric prospective study was designed to evaluate the performance of 33 ancient CI22M users implanted between 1989 and 1997 and upgraded with the late compatible sound processor CP900. Performance was evaluated in quiet and noise with Framatix, an automated adaptative test. RESULTS: Performance using Framatix significantly improved with the CP900, with a decrease of the median speech perception threshold of 6 dB in quiet (p < 0.05) and 5,3 dB in noise (p < 0.0005). No subjective benefit using the APHAB questionnaire was observed. CONCLUSION: Upgrading of cochlear implant recipients who were implanted more than 20 years ago with recent compatible and new technological SP provide benefit in speech recognition in noise.

Robot-based assistance in middle ear surgery and cochlear implantation: first clinical report.

PURPOSE: Middle ear surgery may benefit from robot-based assistance to hold micro-instruments or an endoscope. However, the surgical gesture performed by one hand may perturb surgeons accustomed to two-handed surgery. A robot-based holder may combine the benefits from endoscopic exposure and a two-handed technique. Furthermore, tremor suppression and accurate tool control might help the surgeon during critical surgical steps. The goal of this work was to study the safety of an otological robot-based assistant under clinical conditions in a limited series of patients. METHODS: The RobOtol system has been used as an endoscope or a micro instrument holder for this series. Eleven cases were operated on with the robot as an endoscope holder for chronic otitis. Twenty-one cases were operated on with the robot as a micro-instrument holder for otosclerosis (9 cases), transtympanic tube placement (2 cases), or cochlear implantation (10 cases). RESULTS: No complications related to the robot manipulation occurred during surgery nor in postoperative. In the chronic otitis group, all perforations were sealed and 3-month postoperative pure-tone average air-bone gap (PTA ABG) was 15 ± 2.6 dB. In the otosclerosis group, 1-month post-op PTA ABG was 10 ± 1 dB. For cochlear implantation cases, a scala tympani insertion, a vestibular scala translocation occurred and a full scala vestibuli insertion was observed in 7, 2 and 1 case, respectively. CONCLUSION: The RobOtol system has reached the clinical stage. It could be used safely and with accurate control as an endoscope holder or a micro instrument holder in 32 cases.

Treatment choice in single-sided deafness and asymmetric hearing loss. A prospective, multicentre cohort study on 155 patients.

OBJECTIVES: To describe the treatment choice in a cohort of subjects with single-sided deafness (SSD) and asymmetric hearing loss (AHL). To assess the reliability of the treatment trials. DESIGN: In this national, multicentre, prospective study, the choice of subjects was made after two consecutive trials of Contralateral Routing Of the Signal (CROS) hearing aids and a Bone Conduction Device (BCD) on a headband. Subjects could proceed with one of these two options, opt for cochlear implantation or decline all treatments. SETTING: Seven tertiary university hospitals. PARTICIPANTS: One hundred fifty-five subjects with SSD or AHL fulfilling the candidacy criteria for cochlear implantation, with or without associated tinnitus. MAIN OUTCOME MEASURES: After the two trials, the number of subjects choosing each option was described. Repeated assessments of both generic and auditory-specific quality of life were conducted, as well as hearing assessments (speech recognition in noise and horizontal localization). RESULTS: CROS was chosen by 75 subjects, followed by cochlear implantation (n = 51), BCD (n = 18) and abstention (n = 11). Patients who opted for cochlear implantation had a poorer quality of life (P = .03). The improvement of quality of life indices after each trial was significantly associated with the final treatment choice (P = .008 for generic indices, P = .002 for auditory-specific indices). The follow-up showed that this improvement had been overestimated in the CROS group, with a long-term retention rate of 52.5%. CONCLUSIONS: More than one third of SSD/AHL subjects are unsatisfied after CROS and BCD trials. Repeated quality of life assessments help counselling the patient for his/her treatment choice.

FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases.

Hearing loss and visual impairment in childhood have mostly genetic origins, some of them being related to sensorial neuronal defects. Here, we report on eight subjects from four independent families affected by auditory neuropathy and optic atrophy. Whole-exome sequencing revealed biallelic mutations in FDXR in affected subjects of each family. FDXR encodes the mitochondrial ferredoxin reductase, the sole human ferredoxin reductase implicated in the biosynthesis of iron-sulfur clusters (ISCs) and in heme formation. ISC proteins are involved in enzymatic catalysis, gene expression, and DNA replication and repair. We observed deregulated iron homeostasis in FDXR mutant fibroblasts and indirect evidence of mitochondrial iron overload. Functional complementation in a yeast strain in which ARH1, the human FDXR ortholog, was deleted established the pathogenicity of these mutations. These data highlight the wide clinical heterogeneity of mitochondrial disorders related to ISC synthesis.

Long-term residual hearing in cochlear implanted adult patients who were candidates for electro-acoustic stimulation.

PURPOSE: To evaluate the long-term hearing outcomes in cochlear implanted adults with residual hearing at low frequencies, and the proportion of patients using electro-acoustic stimulation (EAS). METHODS: A monocentric retrospective cohort study was performed in a tertiary referral center. Population demographics, surgical approach, pre- and postoperative hearing at low frequencies, in the implanted and contralateral ear, were recorded as well as duration of EAS use. The percentage hearing preservation was calculated according to the formula S (HEARRING group). RESULTS: In total, 63 adults (81 ears) with residual hearing underwent cochlear implantation with intent to use EAS processors. Six different types of electrode array were implanted. The mean pure tone audiometry (PTA) shift after cochlear implantation was 16 ± 15 dB HL (range 0-59 dB HL). Half of the implanted ears had minimal hearing preservation or total hearing loss (HL) at 5.5 years and the cumulative risk of total HL was 50% at 7 years. During the follow-up, total HL occurred in 22 ears. The decrease in hearing levels was similar in both implanted and contralateral ear during follow-up (ns, F = 2.46 ± 3, Linear Mixed Model (LMM)). Only 44 patients found a benefit from EAS at the first fitting. At the last visit, EAS processors were fitted in 30% of the cases. The pre- and postoperative mean PTA thresholds were not predictive of EAS use (Cox's proportional hazards analysis). CONCLUSIONS: Postoperative residual hearing was observed in 93% of implanted ears, but only half of them had an initial benefit from EAS. No predictive factors were found to influence the use of EAS processors.

The Oticon Medical Neuro Zti cochlear implant and the Neuro 2 sound processor: multicentric evaluation of outcomes in adults and children.

Objective: This study evaluated the outcomes of the Oticon Medical Neuro Zti cochlear implant and the Neuro 2 sound processor.Design: Neuro One users were upgraded to Neuro 2. Monosyllabic word identification was evaluated in adults with Neuro One after ≥5 months, with Neuro 2 at upgrade, and with Neuro 2 after 3 months. Self-reported listening ability, satisfaction, and usability were measured in adults and children.Study sample: Participants were 44 adults and 26 children.Results: Speech identification scores in quiet and noise were 58% and 45% with Neuro One and 67% and 55% with Neuro 2 after 3 months, respectively. Hearing impairment duration and number of active electrodes significantly predicted speech identification in noise with Neuro 2. Significantly higher questionnaire ratings were obtained for Neuro 2 than Neuro One regarding listening ability in complex listening situations, comfort and music, as well as nine aspects of satisfaction and usability.Conclusion: This study demonstrates the clinical superiority of the Neuro 2 sound processor over Neuro One in terms of speech identification in quiet and in noise and reported patient benefit and satisfaction. Given the study design, sources of improvement may include factors unrelated to the sound processor itself.

Comparison of RT-qPCR and Nanostring in the measurement of blood interferon response for the diagnosis of type I interferonopathies.

Type I interferonopathies are characterized by an increase of circulating type I interferon (IFN) concentration. Type I interferonopathies refer to rare Mendelian genetic disorders such as Aicardi-Goutières Syndrome (AGS) as well as more frequent and polygenic auto-immune diseases like systemic lupus erythematosus (SLE). Yet, detection of type I IFN in these patients remains challenging as its amount is usually very low in patients' sera. Thus, the detection of interferon-stimulating genes has been proposed as an alternative for the detection of this cytokine but sensitivy, specificity and predictive values of the assay have not been reported so far. In this study, we propose two different methods based on Nanostring or RT-qPCR to measure in the clinical routine the IFN response, defined as a set of transcripts that are systemically induced by IFNs. The IFN signature is composed of 6 IFN stimulated genes (ISGs) and has a strong predictive value for the diagnosis of type I interferonopathies. The use of this simple test might represent a gold standard for the evaluation of various autoimmune diseases. Moreover, this test could also be used to monitor patients treated with drugs targeting type I IFN pathway. When comparing both methods - Nanostring and qPCR - in terms of analytical performance, they provided similar results but Nanostring was quicker, easier to multiplex, and almost fully-automated, which represent a more reliable assay for the daily clinical practice.

Benefits of a contralateral routing of signal device for unilateral Naída CI cochlear implant recipients.

PURPOSE: Many bilaterally deaf adults are only able to receive one cochlear implant (CI), resulting in suboptimal listening performance, especially in challenging listening environments. Adding a contralateral routing of signal (CROS) device to a unilateral CI is one possibility to alleviate these challenges. This study examined the benefit of such a CROS device. METHODS: Thirteen adult subjects with at least 6 months of CI use, and no or limited benefit of a hearing instrument in the contralateral ear were included in the study. The perceived benefit of a CROS device in everyday listening environments was evaluated up to 1 year after initial fitting using several questionnaires. Speech intelligibility performance was determined using the French matrix sentence test in quiet and in two speech-in-noise setups and was followed for 3 months after CROS fitting. RESULTS: Subjects indicated high satisfaction with the practical usability of the CROS device and long-term device retention was high. Perceived benefits in everyday listening environments were reported. Formal speech intelligibility tests revealed statistically significant median improvements of 6.93 dB SPL (Wilcoxon Z = 2.380, p = 0.017) in quiet and up to 8.00 dB SNR (Wilcoxon Z = 2.366, p = 0.018) in noise. These benefits were accessible immediately without a need for prolonged acclimatization. CONCLUSIONS: Subjective satisfaction and device retention as well as speech intelligibility benefits in quiet and in noise prove the CROS device to be a valuable addition to a unilateral CI in cases of bilateral deafness where bilateral implantation is not an option.

3D endoscopic ear surgery: a clinical pilot study.

OBJECTIVE: To evaluate the feasibility and efficacy of a new high-resolution 3D endoscope in endoscopic ear and lateral skull base surgery. METHODS: Eight patients, five women and three men, were included in this clinical pilot prospective study. Their age was 38 ± 17.3 years (mean ± SD, range 17-54 years). The right side was involved in five cases, and the left side in three cases. There were three cases of chronic otitis, one case of cholesteatoma of the external auditory canal, one case of otosclerosis, one case of cochlear implant surgery, and two cases of stage 2 vestibular schwannoma operated on with a retrosigmoid approach to preserve hearing. RESULTS: There were no intraoperative or postoperative complications. The new system was used during all procedures without the necessity to switch to a 2D mode. The surgeons felt comfortable using the system and its major advantages were considered to be in measuring the distances for ossicular chain reconstruction and in the sense of depth provided in the middle ear and cerebellopontine angle. CONCLUSION: The sense of depth provided by the 3D system is effective in both middle ear and lateral skull base surgery. Further improvements (smaller and/or more angled endoscopes) should be considered for future developments in endoscopic ear surgery.

Benefit of the UltraZoom beamforming technology in noise in cochlear implant users.

The objectives of the study were to demonstrate the audiological and subjective benefits of the adaptive UltraZoom beamforming technology available in the Naída CI Q70 sound processor, in cochlear-implanted adults upgraded from a previous generation sound processor. Thirty-four adults aged between 21 and 89 years (mean 53 ± 19) were prospectively included. Nine subjects were unilaterally implanted, 11 bilaterally and 14 were bimodal users. The mean duration of cochlear implant use was 7 years (range 5-15 years). Subjects were tested in quiet with monosyllabic words and in noise with the adaptive French Matrix test in the best-aided conditions. The test setup contained a signal source in front of the subject and three noise sources at +/-90° and 180°. The noise was presented at a fixed level of 65 dB SPL and the level of speech signal was varied to obtain the speech reception threshold (SRT). During the upgrade visit, subjects were tested with the Harmony and with the Naída CI sound processors in omnidirectional microphone configuration. After a take-home phase of 2 months, tests were repeated with the Naída CI processor with and without UltraZoom. Subjective assessment of the sound quality in daily environments was recorded using the APHAB questionnaire. No difference in performance was observed in quiet between the two processors. The Matrix test in noise was possible in the 21 subjects with the better performance. No difference was observed between the two processors for performance in noise when using the omnidirectional microphone. At the follow-up session, the median SRT with the Naída CI processor with UltraZoom was -4 dB compared to -0.45 dB without UltraZoom. The use of UltraZoom improved the median SRT by 3.6 dB (p < 0.0001, Wilcoxon paired test). When looking at the APHAB outcome, improvement was observed for speech understanding in noisy environments (p < 0.01) and in aversive situations (p < 0.05) in the group of 21 subjects who were able to perform the Matrix test in noise and for speech understanding in noise (p < 0.05) in the group of 13 subjects with the poorest performance, who were not able to perform the Matrix test in noise. The use of UltraZoom beamforming technology, available on the new sound processor Naída CI, improves speech performance in difficult and realistic noisy conditions when the cochlear implant user needs to focus on the person speaking at the front. Using the APHAB questionnaire, a subjective benefit for listening in background noise was also observed in subjects with good performance as well as in those with poor performance. This study highlighted the importance of upgrading CI recipients to new technology and to include assessment in noise and subjective feedback evaluation as part of the process.

An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature.

Perrault syndrome (PS) is a rare autosomal recessive condition characterized by deafness and gonadic dysgenesis. Recently, mutations in five genes have been identified: C10orf2, CLPP, HARS2, HSD17B4, and LARS2. Probands included are presented with sensorineural deafness associated with gonadic dysgenesis. DNA was sequenced using next-generation sequencing (NGS) with a panel of 35 deafness genes including the five Perrault genes. Exonic variations known as pathogenic mutations or detected with <1% frequency in public databases were extracted and subjected to segregation analysis within each family. Both mutations and low coverage regions were analyzed by Sanger sequencing. Fourteen female index patients were included. The screening in four cases has been extended to four family members presenting with PS phenotype. For four unrelated patients (28.6%), causative mutations were identified: three homozygous mutations in C10orf2, CLPP, and HARS2, and one compound heterozygous mutation in LARS2. Three additional heterozygous mutations in LARS2 and HSD17B4 were found in three independent familial cases. All these missense mutations were verified by Sanger sequencing. Familial segregation analyses confirmed the molecular diagnosis in all cases carrying biallelic mutations. Because of NGS, molecular analysis confirmed the clinical diagnosis of PS in 28.6% of our cohort and four novel mutations were found in four Perrault genes. For the unsolved cases, exome sequencing should be performed to search for a sixth unknown PS gene.

Audiological Results and Quality of Life of Sophono Alpha 2 Transcutaneous Bone-Anchored Implant Users in Single-Sided Deafness.

Single-sided deafness (SSD) represents one of the most difficult audiological conditions to rehabilitate. The aim of this prospective study was to evaluate the audiological benefits and quality of life of patients affected by SSD who had previously been users of the Alpha 1® when upgrading them to the Sophono Alpha 2® external processor (Boulder, Colo., USA). Nine patients were included in the study. They underwent physical examination, free-field speech audiometry at 40 and 60 dB, a hearing-in-noise test (Hirsch's test and the squelch test), the Glasgow Benefit Inventory (GBI) questionnaire, and a specific questionnaire on patient satisfaction with Alpha 1. Afterwards, the Alpha 2 external processor was delivered to all patients, and the above-mentioned protocol was repeated after 1 month with the Alpha 2. A statistically significant improvement was found in the speech discrimination score at 40 dB and in the squelch test when using the Alpha 2 external processor compared to the Alpha 1. Alpha 2 had a good clinical tolerance and gave similar results in the specific questionnaire and the GBI to Alpha 1. In conclusion, the new Alpha 2 external processor represents a safe and effective device for the rehabilitation of SSD, and there is an audiological benefit to upgrading to the Alpha 2 external processor for patients who had previously been users of the Alpha 1. The improvement in quality of life is similar to that with other bone-anchored hearing devices.

Five-Year Hearing Outcomes in Bilateral Simultaneously Cochlear-Implanted Adult Patients.

OBJECTIVE: To report the speech performance and sound localization in adult patients 5 years after bilateral simultaneous cochlear implantation and to evaluate the change in speech scores between 1 and 5 years. DESIGN: In this prospective multicenter study, 26 patients were evaluated 5 years after implantation using long straight electrode arrays (MED-EL Combi 40+, standard electrode array, 31 mm). Speech perception was measured using disyllabic words in quiet and noise, with the speech coming from the front and a cocktail party background noise coming from 5 loudspeakers. Speech localization measurements were performed in noise under the same test conditions. These results were compared to those obtained at 1 year reported in a previous study. RESULTS: Five years after implantation, an improvement in speech performance scores compared to 1 year after implantation was found for the poorer ear both in quiet and in noise (+12.1 ± 2.6%, p < 0.001). The lower the speech score of the poorer ear at 1 year, the greater the improvement at 5 years, both in quiet (r = -0.62) and at a signal-to-noise ratio of +15 dB (r = -0.58). The sound localization on the horizontal plane in noise provided by bilateral implantation was better than the unilateral one and remained stable after the results observed at 1 year. CONCLUSION: In adult patients simultaneously and bilaterally implanted, the poorest speech scores improved between 1 and 5 years after implantation. These findings are an additional element to recommend bilateral implantation in adult patients. The use of both cochlear implants and speech training sessions for patients with poor performance should continue in the period after 1 year following implantation, since the speech scores will improve over time.