A RIPOR2 in-frame deletion is a frequent and highly penetrant cause of adult-onset hearing loss.

BACKGROUND: Hearing loss is one of the most prevalent disabilities worldwide, and has a significant impact on quality of life. The adult-onset type of the condition is highly heritable but the genetic causes are largely unknown, which is in contrast to childhood-onset hearing loss. METHODS: Family and cohort studies included exome sequencing and characterisation of the hearing phenotype. Ex vivo protein expression addressed the functional effect of a DNA variant. RESULTS: An in-frame deletion of 12 nucleotides in RIPOR2 was identified as a highly penetrant cause of adult-onset progressive hearing loss that segregated as an autosomal dominant trait in 12 families from the Netherlands. Hearing loss associated with the deletion in 63 subjects displayed variable audiometric characteristics and an average (SD) age of onset of 30.6 (14.9) years (range 0-70 years). A functional effect of the RIPOR2 variant was demonstrated by aberrant localisation of the mutant RIPOR2 in the stereocilia of cochlear hair cells and failure to rescue morphological defects in RIPOR2-deficient hair cells, in contrast to the wild-type protein. Strikingly, the RIPOR2 variant is present in 18 of 22 952 individuals not selected for hearing loss in the Southeast Netherlands. CONCLUSION: Collectively, the presented data demonstrate that an inherited form of adult-onset hearing loss is relatively common, with potentially thousands of individuals at risk in the Netherlands and beyond, which makes it an attractive target for developing a (genetic) therapy.

Ten years of experience with the Ponto bone-anchored hearing system-A systematic literature review.

BACKGROUND: Bone-anchored hearing systems (BAHSs) are widely used for hearing rehabilitation and are indicated in cases of conductive and mixed hearing loss and in single-sided deafness. The Ponto system, that is one available option, has been on the market since 2009. OBJECTIVE OF REVIEW: The aim of this study is to systematically review the literature reporting on the Ponto system, with regard to audiological and surgical outcomes and patient's quality-of-life scores. TYPE OF REVIEW: A systematic literature search was performed in the PubMed database 2009-July 2019. SEARCH STRATEGY: Search term: ((osseointegrated hearing aid) OR (bone conduction implant) OR (bone anchored hearing) OR BAHA OR BAHS OR BAHI). Pre-defined inclusion and exclusion criteria were applied. EVALUATION METHOD: English-language articles reporting original clinical data (audiological, surgical or quality-of-life outcomes) on the Ponto system were included. Articles reporting on Ponto and another BAHS system where the results on Ponto constituted less than 50% of the patient population or including only results on testband or softband devices were excluded. RESULTS: Audiological outcomes were discussed in 20 publications. Improvement against the unaided thresholds was demonstrated. The functional improvement was on average 33.9 dB. The effective gain or remaining air-bone gap was on average 6.7 dB. All evaluated data showed aided speech reception thresholds significantly below normal speech level. Twenty-seven publications reported surgical and follow-up data for the Ponto system. Implant survival was 97.7%, adverse skin reactions (Holgers ≥ 2) were 5% across visits and 15% across patients. No complications were life-threatening, causing permanent disability/damage or requiring a hospitalisation. Five studies reported quality of life using the Glasgow benefit inventory, 98% reported an improvement when analysing the score on an individual level. CONCLUSIONS: The outcomes of this systematic review confirm that percutaneous systems provide consistent audiological benefits and improved quality of life for patients. Further, the review demonstrates that the percutaneous systems are safe, with relatively low complication rates. Skin-related complications are the most common complication type and are experienced by approximately one patient out of seven, or in less than one of 20 follow-up visits.

Hearing Results of Surgery for Acquired Atresia of the External Auditory Canal.

OBJECTIVE: To evaluate short- and long-term hearing results of surgery for acquired atresia of the external auditory canal (EAC) in a large patient cohort and to define preoperative audiometric conditions useful for patient counseling. STUDY DESIGN: Retrospective cohort study. SETTING: Academic tertiary referral center. PATIENTS: Seventy-eight ears from 72 patients with postinflammatory acquired atresia of the EAC who underwent canal- and meatoplasty were included. Patients with involvement of the ossicular chain, (syndromic) external ear malformations, or congenital aural atresia were excluded. INTERVENTION: Canal- and meatoplasty. MAIN OUTCOME MEASURES: Mean pure-tone averages of thresholds at 0.5, 1, 2, and 3 kHz (PTA0.5,1,2,3) for air conduction (AC), bone conduction, and air-bone gap (ABG) were calculated preoperatively and at short-term (≤0.55 yr) and long-term follow-up (>0.55 yr). Additionally, the numbers of ears with a closed ABG ≤10 dB and ≤20 dB, and with Social hearing (defined as: AC PTA0.5,1,2,3 ≤35 dB) were assessed. RESULTS: At short-term follow-up AC PTA0.5,1,2,3 improved by 18 dB. Social hearing was obtained in 81% of the ears. Postoperatively, 35% of the ears had a closed ABG ≤10 dB, 83% was closed ≤20 dB. During follow-up, significant deterioration of 5 to 7 dB occurred for AC thresholds at 0.25, 0.5, and 1 kHz. CONCLUSIONS: Surgery for acquired atresia of the EAC is often beneficial. This study suggests overall advantageous surgery when the preoperative indication criteria ABG PTA0.5,1,2,3 >20 dB and AC PTA0.5,1,2,3 >35 dB are applied.

Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis.

PURPOSE: To characterize new molecular factors implicated in a hereditary congenital facial paresis (HCFP) family and otosclerosis. METHODS: We performed exome sequencing in a four-generation family presenting nonprogressive HCFP and mixed hearing loss (HL). MEPE was analyzed using either Sanger sequencing or molecular inversion probes combined with massive parallel sequencing in 89 otosclerosis families, 1604 unrelated affected subjects, and 1538 unscreened controls. RESULTS: Exome sequencing in the HCFP family led to the identification of a rare segregating heterozygous frameshift variant p.(Gln425Lysfs*38) in MEPE. As the HL phenotype in this family resembled otosclerosis, we performed variant burden and variance components analyses in a large otosclerosis cohort and demonstrated that nonsense and frameshift MEPE variants were significantly enriched in affected subjects (p = 0.0006-0.0060). CONCLUSION: MEPE exerts its function in bone homeostasis by two domains, an RGD and an acidic serine aspartate-rich MEPE-associated (ASARM) motif inhibiting respectively bone resorption and mineralization. All variants associated with otosclerosis are predicted to result in nonsense mediated decay or an ASARM-and-RGD-truncated MEPE. The HCFP variant is predicted to produce an ASARM-truncated MEPE with an intact RGD motif. This difference in effect on the protein corresponds with the presumed pathophysiology of both diseases, and provides a plausible molecular explanation for the distinct phenotypic outcome.

Malleostapedotomy with the self-fixing and articulated titanium piston.

OBJECTIVE: To analyze the results of malleostapedotomy performed by applying the self-fixing and articulated titanium piston according to Häusler. STUDY DESIGN: Retrospective case review. SETTING: Tertiary referral center. PATIENTS AND INTERVENTIONS: This study concerns a retrospective analysis of the results of malleostapedotomy with the use of a self-fixing articulated titanium piston in 16 ears of 16 consecutively treated patients between 2005 and 2009. The medical files were used for the acquisition of data on medical and surgical history and to obtain pre- and postoperative audiometry. Diagnosis and outcomes of mainly revision surgeries are presented and compared to the literature. MAIN OUTCOME MEASURES: Effect of (revision) malleostapedotomy by evaluating postoperative audiometry and air-bone gap closure. RESULTS: The postoperative air-bone gap closure was ≤ 10 dB in 9/16 (56%) ears and within ≤ 20 dB in 13/16 (81%) ears. The mean postoperative air-bone gap was 14.3 dB HL (0.5-2.0 kHz) and 17.3 dB HL (0.5-4.0 kHz). Postoperatively, there was no increase in bone conduction thresholds larger than 3 dB (0.5-2.0 kHz) and postoperative dizziness was absent or very limited and transient. CONCLUSIONS: The malleostapedotomy procedure has become surgically less demanding over time by the technical improvements present in the nowadays available pistons. The design of the self-fixing and articulated titanium piston used in the present group of patients allows a safe and straight-forward malleostapedotomy procedure. Present hearing outcomes match with results presented in the literature.

A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa.

OBJECTIVES: Usher syndrome is an inherited disorder that is characterized by hearing impairment (HI), retinitis pigmentosa, and in some cases vestibular dysfunction. Usher syndrome type IIa is caused by mutations in USH2A. HI in these patients is highly heterogeneous and the present study evaluates the effects of different types of USH2A mutations on the audiometric phenotype. Data from two large centres of expertise on Usher Syndrome in the Netherlands and Sweden were combined in order to create a large combined sample of patients to identify possible genotype-phenotype correlations. DESIGN: A retrospective study on HI in 110 patients (65 Dutch and 45 Swedish) genetically diagnosed with Usher syndrome type IIa. We used methods especially designed for characterizing and testing differences in audiological phenotype between patient subgroups. These methods included Age Related Typical Audiograms (ARTA) and a method to evaluate the difference in the degree of HI developed throughout life between subgroups. RESULTS: Cross-sectional linear regression analysis of last-visit audiograms for the best hearing ear demonstrated a gradual decline of hearing over decades. The congenital level of HI was in the range of 16-33 dB at 0.25-0.5 kHz, and in the range of 51-60 dB at 1-8 kHz. The annual threshold deterioration was in the range of 0.4-0.5 dB/year at 0.25-2 kHz and in the range of 0.7-0.8 dB/year at 4-8 kHz. Patients with two truncating mutations, including homozygotes for the common c.2299delG mutation, developed significantly more severe HI throughout life than patients with one truncating mutation combined with one nontruncating mutation, and patients with two nontruncating mutations. CONCLUSIONS: The results have direct implications for patient counselling in terms of prognosis of hearing and may serve as baseline measures for future (genetic) therapeutic interventions.

Long-term Results of Troublesome CWD Cavity Reconstruction by Mastoid and Epitympanic Bony Obliteration (CWR-BOT) in Adults.

OBJECTIVE: To present the long-term surgical outcome of the bony mastoid and epitympanic obliteration technique with canal wall reconstruction (CWR-BOT) in adults with an unstable cavity after previous canal wall-down surgery for extensive cholesteatoma. STUDY DESIGN: Retrospective study. INTERVENTIONS: Therapeutic. SETTING: Tertiary referral center. PATIENTS: Fifty consecutive adult patients undergoing a CWR-BOT between 1998 and 2009. MAIN OUTCOME MEASURE(S): (A) Recurrence and residual rates of cholesteatoma, (B) postoperative hygienic status of the ear, including postoperative aspect of the tympanic membrane and external ear canal integrity (EAC), (C) functional outcome, and (D) long-term safety issues. RESULTS: (A) The percentage of ears remaining safe without recurrent or residual disease after CWR-BOT was 96% after a mean follow-up time of 101.8 months. Recurrent cholesteatoma occurred in 2% (n = 1) and a residual cholesteatoma was detected in 2% (n = 1) of the patients. (B) A safe dry, and trouble-free graft and selfcleaning EAC was achieved in 94%. (C) The postoperative hearing results showed a gain of 1.7 dB on pure-tone average air-conduction. (D) Nonecho planar diffusion-weighted imaging (non-EP DW magnetic resonance imaging) documented the residual (n = 1) and recurrent cholesteatoma (n = 1). The 1- and 5-year imaging follow-up revealed no other recurrent or residual disease. CONCLUSION: The CWR-BOT is a safe and very effective option for treatment of problematic unstable canal wall-down mastoid cavities, resulting in dry trouble-free ears.

Active Middle Ear Implantation: Long-term Medical and Technical Follow-up, Implant Survival, and Complications.

OBJECTIVE: To evaluate the long-term medical and technical results, implant survival, and complications of the semi-implantable vibrant soundbridge (VSB), otologics middle ear transducer (MET), and the otologics fully implantable ossicular stimulator (FIMOS). STUDY DESIGN: Retrospective cohort study. PATIENTS: Patients with chronic external otitis and either moderate to severe sensorineural or conductive/mixed hearing loss. SETTING: Tertiary referral center. INTERVENTION: Implantation with the VSB, MET, or FIMOS. MAIN OUTCOME MEASURES: Medical complications, number of reimplantations, and explantations. RESULTS: Ninety-four patients were implanted, 12 patients with a round window or stapes application. 28 patients were lost to follow-up. The average follow-up duration was 4.4 years (range, 1 month-15 years). 128 devices were evaluated: (92 VSB, 32 MET, 4 FIMOS). 36 devices (28%) have been explanted or replaced (18 VSB, 14 MET, 4 FIMOS). Device failure was 7% for VSB, 28% for MET, and 100% for FIMOS. In 16 patients (17%) revision surgery (n = 20) was performed. Twenty patients (21%) suffered any medical complication. CONCLUSION: Medical and technical complications and device failures have mostly occurred in the initial period of active middle ear implants (AMEI) implementation and during clinical trials or experimental procedures. All four FIMOS had technical difficulties. An important decrease in the occurrence of both medical and technical complications was observed. Application in more recent years did not show any complications and the recent device failure rates are acceptable. Magnetic resonance imaging (MRI) incompatibility should be taken into account when indicating AMEI.

Visual Prognosis in USH2A-Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis Pigmentosa.

PURPOSE: USH2A mutations are an important cause of retinitis pigmentosa (RP) with or without congenital sensorineural hearing impairment. We studied genotype-phenotype correlations and compared visual prognosis in Usher syndrome type IIa and nonsyndromic RP. DESIGN: Clinic-based, longitudinal, multicenter study. PARTICIPANTS: Consecutive patients with Usher syndrome type IIa (n = 152) and nonsyndromic RP (n = 73) resulting from USH2A mutations from ophthalmogenetic clinics in the Netherlands and Belgium. METHODS: Data on clinical characteristics, visual acuity, visual field measurements, retinal imaging, and electrophysiologic features were extracted from medical charts over a mean follow-up of 9 years. Cumulative lifetime risks of low vision and blindness were estimated using Kaplan-Meier survival analysis. MAIN OUTCOME MEASURES: Low vision and blindness. RESULTS: Participant groups had similar distributions of gender (48% vs. 45% males in Usher syndrome type IIa vs. nonsydromic RP; P = 0.8), ethnicity (97% vs. 99% European; P = 0.3), and median follow-up time (6.5 years vs. 3 years; P = 0.3). Usher syndrome type IIa patients demonstrated symptoms at a younger age (median age, 15 years vs. 25 years; P < 0.001), were diagnosed earlier (median age, 26 years vs. 36.5 years; P < 0.001), and became visually impaired 13 years earlier (median age, 41 years vs. 54 years; P < 0.001) based on VF and 18 years earlier based on VA (median age, 54 years vs. 72 years; P < 0.001) than nonsyndromic RP patients. The presence of 2 truncating mutations in USH2A was associated mostly with the syndromic phenotype, whereas other combinations were present in both groups. We found novel variants in Usher syndrome type IIa (25%) and nonsyndromic RP (19%): 29 missense mutations, 10 indels, 14 nonsense mutations, 9 frameshift mutations, and 5 splice-site mutations. CONCLUSIONS: Most patients with USH2A-associated RP have severe visual impairment by age 50. However, those with Usher syndrome type IIa have an earlier decline of visual function and a higher cumulative risk of visual impairment than those without nonsyndromic RP. Complete loss of function of the USH2A protein predisposes to Usher syndrome type IIa, but remnant protein function can lead to RP with or without hearing loss.

The Bony Obliteration Tympanoplasty in Pediatric Cholesteatoma: Long-term Safety and Hygienic Results.

OBJECTIVE: To present the safety and hygienic results of a 5-year longitudinal study in a pediatric population undergoing surgery for extensive cholesteatoma using a canal wall up approach with bony obliteration of the mastoid and epitympanic space. STUDY DESIGN: Retrospective consecutive study. PATIENTS: Thirty-three children (≤18 yr) undergoing surgery for cholesteatoma (34 ears) between 1997 and 2009. INTERVENTIONS: Therapeutic. SETTING: Tertiary referral center. MAIN OUTCOME MEASURES: 1) Residual and recurrent cholesteatoma rates at 5-year postsurgery, 2) postoperative waterproofing and hygienic status of the ear, and 3) required operation rate to achieve the safety and hygienic goals. RESULTS: At 5 years no patients were lost in follow-up. This consecutive series design is rare in chronical otitis media treatment reporting. The standard residual rate at 5 years was 5.8%, representing two residual cholesteatomas in the middle ear. The standard recurrence rate at 5 years was 2.9%, representing one recurrent cholesteatoma. At 5-year follow-up all ears were free of otorrhea and waterproof and all external ear canals were patent and self-cleaning. The operation rate to reach this safety and hygienic status was 1.5 operations per ear at 5-year follow-up. CONCLUSION: The use of a canal wall up approach with obliteration of the mastoid cavity and epitympanic space to surgically treat cholesteatoma in children results in low residual and recurrence rates and a high rate of trouble-free ears in the long term.

Bone-anchored hearing implants in single-sided deafness patients: Long-term use and satisfaction by gender.

OBJECTIVES/HYPOTHESIS: To examine the long-term satisfaction and possible effects of gender in patients with single-sided deafness (SSD) who underwent bone-anchored hearing implant (BAHI) surgery. STUDY DESIGN: Retrospective case-control study. METHODS: All (n = 145) consecutive SSD patients fitted with a BAHI between January 2001 and October 2011 were asked to complete a questionnaire consisting of the Abbreviated Profile of Hearing Aid Benefit (APHAB), the Communication Profile for the Hearing Impaired (CPHI), and the SSD questionnaire. RESULTS: Twenty-three of the 135 responding patients (17%) reported discontinuation of the device over an average follow-up time of 61.7 months. No significant differences were found in the degree of disability or coping between men and women, according to the APHAB and CPHI scores. Improvement in quality of life and appreciation of the BAHI were not affected by gender, age, directional hearing ability, and handling of the device. The appearance of the device positively affected their appreciation. At the mean follow-up time of 117 months, 69.2% was using their BAHI. In the domains background noise, reverberant surroundings, and aversion to sounds, the mean APHAB scores were significantly changed at 3 months, 1 year, and 10 years after implantation. CONCLUSION: Our study examined the results of BAHI use in SSD patients over a relatively long follow-up period, with an average of 5 years. The majority of users (83%) were satisfied with the device. No significant gender differences were in terms of reported appreciation, hearing disability, or coping with a BAHI. LEVEL OF EVIDENCE: 3b.

Long-term Compliance and Satisfaction With Percutaneous Bone Conduction Devices in Patients With Congenital Unilateral Conductive Hearing Loss.

OBJECTIVE: Patients with congenital unilateral conductive hearing loss (UCHL) can either be watchful monitored or treated surgically through the fitting of a percutaneous bone conduction device (BCD) or, in some cases, atresia repair. The current study evaluated the long-term compliance and satisfaction with a percutaneous BCD in this specific population. STUDY DESIGN: Fifty-three consecutive patients with congenital UCHL treated with a percutaneous BCD in our tertiary referral center between 1998 and 2011 were identified. Clinical and audiological data were retrospectively gathered from the patients' files. The patients were interviewed by telephone about their current device usage status and were asked to complete the Speech, Spatial and Qualities of Hearing Scale (SSQ). RESULTS: Compliance with the BCD was 56.6% after a mean follow-up of 7 years. The mean age at implantation of the users (22 years) was significantly higher than that of the nonusers (10 years). The mean time of device usage before the patients stopped using the BCD was 5 years. The primary reasons mentioned for quitting the BCD were experiencing excess background noise and/or subjectively not receiving enough benefit. Objectively measured features of binaural processing affected by the BCD were found to correlate with long-term BCD usage. The SSQ revealed significant improvement in the aided condition compared with the nonaided condition in the users, in contrast to the nonusers. CONCLUSION: The current disappointing long-term compliance figures indicate the need for an even more careful and individualized approach with life-long follow-up when fitting BCDs in this specific population, especially in children.

A Retrospective Cohort Study on the Influence of Comorbidity on Soft Tissue Reactions, Revision Surgery, and Implant Loss in Bone-anchored Hearing Implants.

OBJECTIVE: To identify risk factors for complications after bone-anchored hearing implant (BAHI) surgery. STUDY DESIGN: Retrospective cohort study. SETTING: Tertiary referral center. PATIENTS: All adult patients who received titanium bone-anchored hearing implants at our clinic between September 1, 1988 and December 31, 2007 were approached to fill out a questionnaire on comorbidity factors. A total of 581 patients with 669 implants were included in the analysis. MAIN OUTCOME MEASURES: Implant loss, soft tissue reactions, and revision surgery after BAHI implantation. RESULTS: Skin disease and profound learning difficulties were risk factors for time to first soft tissue reaction, hazard rate ratio of 3.41 (95% CI 1.45-8.01) and 3.42 (1.03-11.39), respectively. Female gender showed a trend toward a negative risk for time to first soft tissue reaction, hazard rate ratio 0.60 (0.35-1.03). In multivariable analysis, skin disease and female gender were observed as independent associative factors, adjusted hazard ratio 3.08 (1.32-7.16) and 0.56 (0.33-0.94). For revision surgery, female gender and cardiovascular disease were identified as negative risk factors in univariable analysis, and smoking showed a trend toward a negative risk, with hazard ratios of 0.15 (0.07-0.32), 0.07 (0.03-0.20), and 0.51 (0.24-1.07), respectively. In multivariable analysis, smoking and female gender were observed as independent associative factors, adjusted hazard ratio 0.45 (0.22-0.95) and 0.14 (0.06-0.30). Smoking could be identified as a risk factor for implant loss with a hazard ratio of 3.32 (1.36-8.09). CONCLUSION: Retrospective analysis of comorbidity factors and clinical outcomes revealed risk factors for postoperative complications after BAHI surgery.

Amplification options in unilateral aural atresia: an active middle ear implant or a bone conduction device?

BACKGROUND: There is no consensus on treatment of patients with congenital unilateral aural atresia. Currently, 3 intervention options are available, namely, surgical reconstruction, application of a bone-conduction device (BCD), or application of a middle ear implant. OBJECTIVE: The present study aims to compare the BCD with the application of a middle ear implant. We hypothesized that cross-hearing (stimulating the cochlea by means of bone conduction contralateral to the implanted side) would cause BCD users to have difficulty performing localization tasks. METHODS: Audiologic data of 4 adult patients with a middle ear implant coupled directly to the cochlea were compared with data of 4 adult patients fitted with an osseointegrated BCD. All patients were fitted during adulthood. The emphasis of this study is on directional hearing. RESULTS: The middle ear implant and the BCD improved sound localization of patients with congenital unilateral aural atresia. Unaided scores demonstrate a large variation. CONCLUSION: Our results demonstrate that there was no advantage of the middle ear implant over the BCD for directional hearing in patients who had no amplification in childhood. The BCD users had the best bandwidth.

Active middle ear implantation for patients with sensorineural hearing loss and external otitis: long-term outcome in patient satisfaction.

OBJECTIVE: To study long-term subjective benefit of patients with sensorineural hearing loss and chronic external otitis who use active middle ear implants. DESIGN: Single-subject repeated measures in a preintervention and postintervention design with multiple postintervention measurements (questionnaires). SETTING: Tertiary academic center. PATIENTS: Moderate-to-severe sensorineural hearing loss (n = 56) with severe chronic external otitis who use the Vibrant Soundbridge (VSB) or Otologics MET middle ear implant systems. MAIN OUTCOME MEASURE: Changes in hearing disability and handicap as evaluated using the Abbreviated Profile of Hearing Aid Benefit (APHAB), the Nijmegen Cochlear Implant Questionnaire (NCIQ), and the Glasgow Benefit Inventory (GBI). RESULTS: Data of 33 patients (mean postoperative duration of 7.5 yr) were available. No difference in subjective results was found between the VSB and Otologics MET patient groups. Total percentage of nonuse was 13%. Long-term APHAB results show a significant decrease in disability for 43% of the patients compared with 54% at 1-year postoperative. NCIQ results show a significant benefit for all subdomains with a negative trend over time. The GBI results show a significant long-term increase in quality of life with positive scores for 82% of the assessed patients. CONCLUSION: Long-term postoperative patient satisfaction and quality of life results show a significant difference compared with preoperative measurements, with conventional hearing aids. A negative trend over time is found on all questionnaires, which might reflect patient aging (increase of hearing loss) or habituation to a situation with fewer concerns regarding a patient's external otitis.

Familial aggregation of pure tone hearing thresholds in an aging European population.

OBJECTIVE: To investigate the familial correlations and intraclass correlation of age-related hearing impairment (ARHI) in specific frequencies. In addition, heritability estimates were calculated. STUDY DESIGN: Multicenter survey in 8 European centers. SUBJECTS: One hundred ninety-eight families consisting of 952 family members, screened by otologic examination and structured interviews. Subjects with general conditions, known to affect hearing thresholds or known otologic cause were excluded from the study. RESULTS: We detected familial correlation coefficients of 0.36, 0.37, 0.36, and 0.30 for 0.25, 0.5, 1, and 2 kHz, respectively, and correlation coefficients of 0.20 and 0.18 for 4 and 8 kHz, respectively. Variance components analyses showed that the proportion of the total variance attributable to family differences was between 0.32 and 0.40 for 0.25, 0.5, 1, and 2 kHz and below 0.20 for 4 and 8 kHz. When testing for homogeneity between sib pair types, we observed a larger familial correlation between female than male subjects. Heritability estimates ranged between 0.79 and 0.36 across the frequencies. DISCUSSION: Our results indicate that there is a substantial shared familial effect in ARHI. We found that familial aggregation of ARHI is markedly higher in the low frequencies and that there is a trend toward higher familial aggregation in female compared with male subjects.

Bilateral bone conduction devices: improved hearing ability in children with bilateral conductive hearing loss.

OBJECTIVES: The aim of the study was to investigate whether children with bilateral conductive hearing loss benefit from their second device (i.e., the bilateral bone conduction device [BCD]). DESIGN: Speech recognition in noise was assessed in 10 children fitted with bilateral BCDs during childhood. Speech recognition was measured in 2 conditions with both BCDs active. Spatial resolution was tested with the Minimum Audible Angle test in the bilateral and monaural listening conditions. RESULTS: Children demonstrated an improvement in speech recognition when speech was presented from the front and noise was presented from the right-hand side as compared with both speech and noise being presented from the front. The minimum audible angle decreased from 57° in the best monaural condition to 13° in the bilateral condition. CONCLUSIONS: The audiological outcomes demonstrate the advantage of bilateral BCD fitting in children with bilateral conductive hearing loss.

Comparison between a new implantable transcutaneous bone conductor and percutaneous bone-conduction hearing implant.

OBJECTIVES: Despite good results on osseointegration and limited skin reactions with percutaneous bone conductors, there remains room for improvement. Especially in children, adverse events with percutaneous bone conductors might occur more frequently. Transcutaneous bone conductors, if powerful enough, can provide a solution that minimizes adverse events and implant loss. This study compares a new transcutaneous bone conduction hearing aid, the Sophono Alpha 1 (Sophono), with the percutaneous BAHA system (BAHA). METHODS: In our tertiary referral center, 12 patients (age 5-12 yr) with congenital unilateral conductive hearing loss were enrolled in the study as follows: 6 patients with the Sophono and 6 with the BAHA. Both clinical results and audiologic data were gathered. For an objective audiologic comparison between both systems, we used a skull simulator. RESULTS: The skin reactions were comparable between both groups, in 1 implant was lost 1 month after second phase surgery (BAHA). The users received audiologic benefits from both systems. The BAHA-based outcome was slightly better compared with Sophono-based results in sound field thresholds, speech recognition threshold, and speech comprehension at 65 dB. The skull simulator demonstrated that the BAHA device has an output that is 10 to 15 dB higher compared with the Sophono device. CONCLUSION: The Sophono offers appealing clinical benefits of transcutaneous bone conduction hearing; however, the audiologic challenges of transcutaneous application remain, as the Sophono does not exceed percutaneous application regarding audiologic output.

Temporal bone imaging in osteogenesis imperfecta patients with hearing loss.

OBJECTIVES/HYPOTHESIS: Osteogenesis imperfecta (OI) is an autosomal-dominant connective-tissue disorder, predominantly characterized by bone fragility. Conductive hearing loss develops in half of the OI patients and often progresses to mixed loss. Findings of computed tomography (CT) and magnetic resonance (MR) imaging of the temporal bone in the largest series of OI patients to date are presented and correlated with the audiograms. STUDY DESIGN: Retrospective case series. METHODS: CT images and audiograms of 17 hearing-impaired OI patients, aged 9 to 67 years, were analyzed retrospectively. In four patients, MR imaging was performed as well. Imaging abnormalities were correlated with type and severity of hearing loss deduced from the audiograms. RESULTS: CT revealed fenestral hypodense foci in the fissula ante fenestram (25 of 33 ears), oval window (23 of 33 ears), and round window (20 of 33 ears). Retrofenestral hypodensities were observed, affecting the cochlear turns (16 of 33 ears), facial nerve canal (10 of 33 ears), or semicircular canals (6 of 33 ears), or appearing like the fourth turn of the cochlea (11 of 33 ears). The site of hypodensities corresponded to the type of hearing loss in 72.2% of the OI ears. The air-bone gap and bone-conduction thresholds showed significant positive associations with the number of affected fenestral (P < .05) and retrofenestral structures (P < .01), respectively. Gadolinium-enhanced MR images demonstrated active lesions in three patients with mixed hearing loss or deafness. CONCLUSIONS: The site of hypodensities on temporal bone CT images in OI corresponds to presence and type of hearing loss determined by audiometry. The more severe the hearing loss, the more affected temporal bone structures in OI.