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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. [ABSTRACT FROM AUTHOR]

Background: Untreated hearing loss has an effect on cognition. It is hypothesized that the additional processing required to compensate for the sensory loss affects the cognitive resources available for other tasks and that this could be mitigated by a hearing device. Methods: The impact on cognition of cochlear implants (CIs) was tested in 100 subjects, ≥60 years old, with bilateral moderately-severe to profound post linguistic deafness using hearing aids. Data was compared pre and 12 and 18 months after cochlear implantation for the speech spatial qualities questionnaire, Mini Mental State Examination (MMSE), Trail making test B (TMTB) and digit symbol coding (DSC) from the Wechsler Adult Intelligence Scale version IV and finally the timed up and go test (TUG). Subjects were divided into young old (60-64), middle old (65-75) and old old (75+) groups. Cognitive test scores and times were standardized according to available normative data. Results: Hearing significantly improved pre- to post-operatively across all age groups. There was no change post-implant in outcomes for TMTB, TUG or MMSE tests. Age-corrected values were within normal expectations for all age groups for the TUG and MMSE. However, DSC scores and TMTB times were worse than normal. There was a significant increase in DSC scores between baseline and 12-months for 60- to 64-year-olds (t[153] = 2.608, p = 0.027), which remained at 18 months (t[153] = 2.663, p = 0.023). Discussion: The improved attention and processing speed in the youngest age group may be a consequence of reallocation of cognitive resources away from auditory processing due to greatly improved hearing. The oldest age group of participants had cognition scores closest to normal values, suggesting that only the most able older seniors tend to come forward for a CI. Severe to profoundly deaf individuals with hearing aids or cochlear implants were still poorer than age-equivalent normally hearing individuals with respect to cognitive flexibility, attention, working memory, processing speed and visuoperceptual functions. Due to a lack of data for the TUG, TMTB and DSC in the literature for hearing impaired individuals, the results reported here provide an important set of reference data for use in future research. [ABSTRACT FROM AUTHOR]

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 CochlearTM (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 60 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: 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. [ABSTRACT FROM AUTHOR]

Objective: To assess trauma patterns associated with the insertion of lateral wall electrode arrays. The study focused on 3 categories—scala tympani (ST), intermediate, and scala vestibuli (SV)—to identify traumatic patterns and contributing factors. Study Design: Retrospective study. Setting: Data from 106 cochlear implant recipients at a tertiary otologic center. Methods: Demographic and surgical data were collected from recipients who underwent cochlear implantation manually and with RobOtol®. Measurements included cochlear dimensions, angular depth of insertion, and position of the first electrode. Three‐dimensional reconstructions were used to analyze the electrode array location relative to the basilar membrane, categorized into ST, intermediate, and SV electrodes. Nontraumatic insertion was defined as all electrodes in the ST, while traumatic insertions had 1 or more electrodes in intermediate or SV locations. Results: Out of 106 cases, 44% had nontraumatic and 56% had traumatic insertions. Demographic and surgical characteristics showed no association with traumatic insertions. A deeper position of the first electrode, relative to the round window, was associated with traumatic insertions (P =.03). Three trauma patterns were observed: distal (facing the apical electrodes), proximal (facing the middle electrodes around 180°), and distal/proximal. Conclusion: This study considers the intermediate position which could be associated with basilar membrane lesions. Risk zones for intracochlear trauma with lateral wall arrays were identified distally and proximally. Traumatic insertions were independently linked to deeper array placement. Future studies should explore whether gentler insertion, without insisting on further electrode array insertion depth, could reduce the trauma during cochlear implantation. [ABSTRACT FROM AUTHOR]

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Objectives: The objective of this study was to predict occurrence of facial nerve stimulation (FNS) in cochlear implanted patients for far‐advanced otosclerosis (FAO) by correlating preoperative computed tomography (CT)‐scan data to FNS and to evaluate FNS impact on hearing outcomes. Methods: Retrospective analysis on 91 ears (76 patients) implanted for FAO. Electrodes were straight (50%) or perimodiolar (50%). Demographic data, extension of otosclerosis on preoperative CT scan, occurrence of FNS, and speech performance were analyzed. Results: Prevalence of FNS was 21% (19 ears). FNS appeared during the first month (21%), 1–6 months (26%), 6–12 months (21%), and over 1 year (32%) postimplantation. Cumulative incidence of FNS at 15 years was 33% (95% CI = [14–47%]). Extension of otosclerotic lesions on preimplantation CT‐scan was more severe in FNS ears compared to No‐FNS (p <.05): for Stage III, 13/19 (68%) and 18/72 (25%) ears for FNS and No‐FNS groups, respectively (p <.05). Location of otosclerotic lesions relative to the facial nerve canal was similar whatever the presence or not of FNS. Electrode array had no impact on FNS occurrence. At 1 year post‐implantation, duration of profound hearing loss (≥5 years) and previous stapedotomy were negatively associated with speech performance. FNS did not impact hearing outcomes, despite a lower percentage of activated electrodes (p <.01) in the FNS group. Nevertheless, FNS were associated with a decrease of speech performance both in quiet (p <.001) and in noise (p <.05). Conclusion: Cochlear implanted patients for FAO are at greater risk of developing FNS affecting speech performance over time, probably due to a higher percentage of deactivated electrodes. High resolution CT‐scan is an essential tool allowing FNS prediction but not time of onset. Level of evidence: 2b, Laryngoscope Investigative Otolaryngology, 2022. [ABSTRACT FROM AUTHOR]