Christophe Vincent

Objectives Screening for hearing impairments is part of the mandatory medical visits for infants at nine months and two years in France, however adherence to guidelines is low, diagnostic methods are varied and accuracy is undocumented. The aim of this research was to evaluate the diagnostic accuracy of the Petale^® behavioral auditory test for infants aged nine months to three years who were screened for hearing impairments by a general practitioner (GP) or pediatrician. Methods In this prospective diagnostic accuracy study, infants in France aged nine months to three years were tested with Petale^® (index test) during a GP or pediatrician consultation and a specialist hearing assessment with a conditioned orientation reflex (COR) test carried out by an Ear-Nose-Throat specialist (reference test). Results Overall, 157 infants were included in the analysis population and 119 had both an index test and a reference test. Median age was 1.5 years (IQR 1.0;2.0). A hearing impairment was identified with Petale^® for 58 (36.9%) infants. Sensitivity was 66.67% (95%CI 44.89–88.44), specificity was 71.29% (62.46–80.11), PPV was 29.27% (15.34–43.20), NPV 92.31% (86.39–98.22) and accuracy 70.59% (62.40-78.77). The Kappa index for concordance was 0.249 (95%CI 0.079–0.418) indicating a weak concordance between the two diagnostic tests. Overall, 98.7% of practitioners and 99.1% of parents were satisfied or very satisfied with Petale^®. Conclusions The diagnostic accuracy of Petale^® is unsatisfactory. Nevertheless, parents’ and practitioners’ satisfaction with the test is high and the test was shown to be an easy, quick-to-use, cost-effective solution for this population where data on proven audiometry testing protocols are lacking.

Purpose: To corroborate the vascular etiology of sudden sensorineural hearing loss (SNHL) utilizing magnetic resonance imaging (MRI). Patient: A 24-year-old male with a history of sickle cell disease experienced sudden SNHL and right horizontal nystagmus, without accompanying vertigo. Intervention: Audiometric evaluation revealed left-sided SNHL, predominantly affecting high frequencies. Video head impulse testing demonstrated isolated dysfunction of the left posterior semicircular canal. An urgent brain MRI identified a recent punctiform ischemic stroke in the frontal region. A subsequent MRI, conducted with a 4-hour delay and post-contrast enhancement, highlighted a hyperintense signal within the left cochlear region and the left posterior semicircular canal. Conclusion: The investigative results substantiate an infarction in the territory of the cochlear artery, precipitated by a vaso-occlusive event, thereby reinforcing the vascular hypothesis of cochleovestibular artery syndrome. This case underscores the congruence between clinical observations and delayed post-contrast MRI findings.

Background: The objective of this study was to describe the long-term hearing outcomes of gamma knife treatment for unilateral progressing vestibular schwannomas (VS) presenting with good initial hearing using audiologic data. Methods: A retrospective review was performed between 2010 and 2020 to select patients with progressing unilateral VS and good hearing (AAO-HNS class A) treated with stereotactic gamma knife surgery (GKS). Their audiograms were analyzed along with treatment metrics and patient data. Results: Hearing outcomes with a median follow-up of 5 years post-treatment showed statistically significant loss of serviceable hearing: 34.1% of patients maintained good hearing (AAO-HNS class A), and 56.1% maintained serviceable hearing (AAO-HNS class A and B). Non-hearing outcomes are favorable with excellent tumor control and low facial nerve morbidity. Conclusions: Hearing declines over time in intracanalicular VS treated with GKS, with a significant loss of serviceable hearing after 5 years. The mean cochlear dose and the presence of cochlear aperture obliteration by the tumor are the main statistically significant factors involved in the hearing outcomes.

Presbycusis, or age-related hearing loss (ARHL), is a major public health issue. About half the phenotypic variance has been attributed to genetic factors. Here, we assessed the contribution to presbycusis of ultrarare pathogenic variants, considered indicative of Mendelian forms. We focused on severe presbycusis without environmental or comorbidity risk factors and studied multiplex family age-related hearing loss (mARHL) and simplex/sporadic age-related hearing loss (sARHL) cases and controls with normal hearing by whole-exome sequencing. Ultrarare variants (allele frequency [AF] < 0.0001) of 35 genes responsible for autosomal dominant early-onset forms of deafness, predicted to be pathogenic, were detected in 25.7% of mARHL and 22.7% of sARHL cases vs. 7.5% of controls (P = 0.001); half were previously unknown (AF < 0.000002). MYO6, MYO7A, PTPRQ, and TECTA variants were present in 8.9% of ARHL cases but less than 1% of controls. Evidence for a causal role of variants in presbycusis was provided by pathogenicity prediction programs, documented haploinsufficiency, three-dimensional structure/function analyses, cell biology experiments, and reported early effects. We also established Tmc1^N321I/+ mice, carrying the TMC1:p.(Asn327Ile) variant detected in an mARHL case, as a mouse model for a monogenic form of presbycusis. Deafness gene variants can thus result in a continuum of auditory phenotypes. Our findings demonstrate that the genetics of presbycusis is shaped by not only well-studied polygenic risk factors of small effect size revealed by common variants but also, ultrarare variants likely resulting in monogenic forms, thereby paving the way for treatment with emerging inner ear gene therapy. Significance Presbycusis, or age-related hearing loss, is a major public health issue and the principal potentially modifiable risk factor for dementia. It is caused by environmental factors and largely uncharacterized genetic factors. We compared DNA sequences across genomic coding regions between familial or sporadic cases of severe presbycusis and controls with normal hearing. The frequency of ultrarare predicted pathogenic variants in genes known to cause dominant early-onset forms of deafness was significantly higher in both familial and sporadic cases than in controls. Pathogenicity of many of these variants was established with complementary analyses. Ultrarare variants have a large effect size and are known to cause monogenic disorders. These findings open up possibilities for curing these forms of presbycusis by gene therapy.

Purpose To provide more data on the clinical presentation and natural evolution of facial nerve schwannomas and to provide guidance for therapeutic decision making. Methods A retrospective case review of eighty patients diagnosed with a facial nerve schwannoma between 1990 and 2018 in ten tertiary referral centers in Europe was performed. Patients’ demographics, symptomatology, audiometry, anatomical site (segments involved), size and whenever possible volume measurement were registered. Results At presentation, transient or persistent facial palsy was the most common symptom, followed by hearing loss. The schwannoma involved more than one segment in the majority of the patients with the geniculate ganglion being most commonly involved. Initial treatment consisted of a wait and scan approach in 67.5%, surgery in 30% and radiation therapy in 2.5% of the patients. Tympanic segment schwannomas caused mainly conductive hearing loss and were more prone to develop facial palsy at follow-up. Internal auditory canal or cerebellopontine angle schwannomas presented with significantly more sensorineural hearing loss. Conclusions Although modern imaging has improved diagnosis of this tumor, choosing the best treatment modality remains a real challenge. Based on the literature review and current findings, more insights into the clinical course and the management of facial nerve schwannomas are provided.

Objective To perform a long-term evaluation of the localisation capabilities in the horizontal plane of single-sided deaf patients fitted with a BAHA device. Design Single-centre retrospective study. Participants Twenty-one adults with single-sided deafness (SSD) with normal hearing in the contralateral ear (pure tone average 90%) rehabilitated with a Cochlear BAHA device from 2003 to 2012 on the deaf side over a median follow-up of 8 years. Outcome measures The task used in this paper is a sound localisation identification task with a set-up of seven loudspeakers on a semi-circular array at 30-degree intervals performed at three periods: before BAHA, initially and at last follow-up. Our main criterion of judgement was the root-mean-square (RMS) localisation error. In addition, the Bern Benefit in Single-Sided Deafness Questionnaire (BBSS) was administered. Results The mean RMS localisation error was initially estimated at 64 degrees without any rehabilitation (for a chance level RMS estimated at 81 degrees). Initially, with the BAHA device, the RMS localisation error dropped to 51 degrees. At the last follow-up evaluation, a significant decrease at 23 degrees was noted. Concerning the Bern Questionnaire, 19% of the patients (n = 4) did not report any change (score of 0), 33% (n = 7) are satisfied (score of +1 or +2) and 48% (n = 10) are very satisfied with the BAHA device (score better than +3). Conclusion Improvement of sound localisation in the horizontal plane for some SSD patients is likely related to altered processing of monaural spectral cues. The time needed to learn to use the azimuth-dependent spectral cues takes time. Long-term follow-up should be considered for studies investigating sound localisation performance.

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.