Audiometric Characteristics of a Dutch DFNA10 Family With Mid-Frequency Hearing Impairment.

OBJECTIVES: Mutations in EYA4 can cause nonsyndromic autosomal dominant sensorineural hearing impairment (DFNA10) or a syndromic variant with hearing impairment and dilated cardiomyopathy. A mutation in EYA4 was found in a Dutch family, causing DFNA10. This study is focused on characterizing the hearing impairment in this family. DESIGN: Whole exome sequencing was performed in the proband. In addition, peripheral blood samples were collected from 23 family members, and segregation analyses were performed. All participants underwent otorhinolaryngological examinations and pure-tone audiometry, and 12 participants underwent speech audiometry. In addition, an extended set of audiometric measurements was performed in five family members to evaluate the functional status of the cochlea. Vestibular testing was performed in three family members. Two individuals underwent echocardiography to evaluate the nonsyndromic phenotype. RESULTS: The authors present a Dutch family with a truncating mutation in EYA4 causing a mid-frequency hearing impairment. This mutation (c.464del) leads to a frameshift and a premature stop codon (p.Pro155fsX). This mutation is the most N-terminal mutation in EYA4 found to date. In addition, a missense mutation, predicted to be deleterious, was found in EYA4 in two family members. Echocardiography in two family members revealed no signs of dilated cardiomyopathy. Results of caloric and velocity step tests in three family members showed no abnormalities. Hearing impairment was found to be symmetric and progressive, beginning as a mid-frequency hearing impairment in childhood and developing into a high-frequency, moderate hearing impairment later in life. Furthermore, an extended set of audiometric measurements was performed in five family members. The results were comparable to those obtained in patients with other sensory types of hearing impairments, such as patients with Usher syndrome type IIA and presbyacusis, and not to those obtained in patients with (cochlear) conductive types of hearing impairment, such as DFNA8/12 and DFNA13. CONCLUSIONS: The mid-frequency hearing impairment in the present family was found to be symmetric and progressive, with a predominantly childhood onset. The results of psychophysical measurements revealed similarities to other conditions involving a sensory type of hearing impairment, such as Usher syndrome type IIA and presbyacusis. The study results suggest that EYA4 is expressed in the sensory cells of the cochlea. This phenotypic description will facilitate counseling for hearing impairment in DFNA10 patients.

Nonsyndromic hearing loss caused by USH1G mutations: widening the USH1G disease spectrum.

OBJECTIVE: Currently, six genes are known to be associated with Usher syndrome type I, and mutations in most of these genes can also cause nonsyndromic hearing loss. The one exception is USH1G, which is currently only known to be involved in Usher syndrome type I and atypical Usher syndrome. DESIGN: A Dutch family with autosomal recessively inherited hearing loss was examined. Audiometric, ophthalmic, and vestibular evaluations were performed besides the genetic analysis. RESULTS: The hearing loss had an early onset with a downsloping audiogram configuration. Slight progression of the hearing loss was seen in both affected individuals. Compound heterozygous mutations in USH1G were found to segregate with the hearing loss in this family, a missense (c.310A>G, p.Met104Val) and a frameshift mutation (c.780insGCAC, p.Tyr261Alafs*96). Extensive ophthalmic and vestibular examinations demonstrated no abnormalities that are usually associated with Usher syndrome type I. CONCLUSIONS: This is the first family presented with nonsyndromic hearing loss caused by mutations in USH1G. Our findings expand the phenotypic spectrum of mutations in USH1G.

Similar phenotypes caused by mutations in OTOG and OTOGL.

OBJECTIVES: Recently, OTOG and OTOGL were identified as human deafness genes. Currently, only four families are known to have autosomal recessive hearing loss based on mutations in these genes. Because the two genes code for proteins (otogelin and otogelin-like) that are strikingly similar in structure and localization in the inner ear, this study is focused on characterizing and comparing the hearing loss caused by mutations in these genes. DESIGN: To evaluate this type of hearing, an extensive set of audiometric and vestibular examinations was performed in the 13 patients from four families. RESULTS: All families show a flat to downsloping configuration of the audiogram with mild to moderate sensorineural hearing loss. Speech recognition scores remain good (>90%). Hearing loss is not significantly different in the four families and the psychophysical test results also do not differ among the families. Vestibular examinations show evidence for vestibular hyporeflexia. CONCLUSION: Because otogelin and otogelin-like are localized in the tectorial membrane, one could expect a cochlear conductive hearing loss, as was previously shown in DFNA13 (COL11A2) and DFNA8/12 (TECTA) patients. Results of psychophysical examinations, however, do not support this. Furthermore, the authors conclude that there are no phenotypic differences between hearing loss based on mutations in OTOG or OTOGL. This phenotype description will facilitate counseling of hearing loss caused by defects in either of these two genes.

[Treating age-related hearing loss: hearing aids are not very popular]. / Behandeling van ouderdomsslechthorendheid: hoortoestellen niet erg geliefd.

Presbycusis means the deterioration of hearing resulting from the ageing process. Presbycusis can greatly affect one's quality of life; impaired hearing restricts communication and untreated presbycusis could result in social isolation and even depression. Nevertheless, only a minority of elderly with impaired hearing use a hearing aid. It is preferable to propose a hearing-aid fitting in the earliest stage possible, provided the current reimbursement criteria are met. The Dutch consensus model ('Veldnorm Hoortoestelverstrekking 2009') is the most important guideline in this regard.

Age-related use and benefit of the bone-anchored hearing aid compact.

OBJECTIVE: To study age-related patient satisfaction with the bone-anchored hearing aid (BAHA) compact. METHODS: A retrospective postal questionnaire, the International Outcome Inventory for Hearing Aids (IOI-HA), was sent to 211 BAHA Compact users. Questionnaire responses from 135 BAHA users were analyzed related to age, sex, years of BAHA experience, and the hearing thresholds (pure-tone average) at the aided side. Age ranged from 18 to 77 years. RESULTS: The IOI-HA showed that the BAHA Compact was greatly appreciated by almost all of the users: most patients stated that they were using the device for most of the day; it helped them to hear better and it reduced the number of situations in which hearing impairment was problematical. The cumulative score on the questionnaire was negatively influenced by age (rho = -0.191, p = 0.05). Furthermore, increase in sensorineural hearing loss (SNHL) component was associated with decrease in total IOI-HA scores (Spearman rho = -0.193, p < 0.05). A significant correlation was found between age and the SNHL component (Spearman rho = 0.525, p < 0.001).There were no significant differences in the levels of difficulty with placing the BAHA on the implant or with handling the BAHA between the age groups. Cleaning the skin around the implant causes the most difficulties in the youngest age group (p < 0.02). CONCLUSION: The BAHA Compact enhances participation in various domains of communication. Differences in patients' satisfaction seemed to be correlated with the SNHL component rather than age.

Audiometric characteristics of USH2a patients.

Temporal processing, frequency discrimination and frequency resolution, three basic mechanisms involved in speech perception, were studied in 11 USH2a patients from 10 Dutch families. Measurements included loudness scaling, gap detection, determination of auditory filter shapes and difference limen for frequency. The results were compared to values obtained from listeners with normal hearing, DFNA8/12 patients, DFNA13 patients and unselected patients with presbyacusis. Overall, the results for USH2a were most similar to those obtained in patients with sensorineural hearing loss caused by hair cell defects. To our knowledge, this is the first study that presents results on audiometric measurements combined with psychophysical measurements in a group of USH2a patients.

Subjective benefit after BAHA system application in patients with congenital unilateral conductive hearing impairment.

OBJECTIVE: To study whether unilateral Bone-anchored Hearing Aid (BAHA) fitting led to subjective hearing benefit in patients with congenital unilateral conductive hearing impairment. STUDY DESIGN: Prospective evaluation on 20 patients. SETTING: Tertiary referral center. PATIENTS: Ten adults and 10 children with congenital unilateral conductive hearing impairment, with a mean air-bone gap of 50 dB, were included. METHODS: Subjective bilateral hearing benefit after BAHA fitting was measured using 2 disability-specific questionnaires: Chung and Stephens and the Speech, Spatial and Qualities of hearing profile (children's version in the patients aged <18 yr). The Glasgow children's benefit inventory was also used to measure patient's health benefit after BAHA fitting. RESULTS: Chung and Stephens' questionnaire showed an overall preference for the BAHA in several specific hearing situations. The Glasgow children's benefit inventory demonstrated an overall mean improvement of +34, which was the most prominent in the learning domain. The 10 adults showed an already good score on the Speech, Spatial and Qualities of hearing scale in the unaided situation. CONCLUSION: The BAHA was well accepted by most of the patients with congenital unilateral conductive hearing impairment. A preoperative trial of the BAHA system with the BAHA on a headband is part of the preoperative procedure. In children with unilateral conductive hearing loss, with regard to possible childs' development and communication difficulties, intervention with BAHA can be considered as an option.

Bone-anchored hearing aid system application for unilateral congenital conductive hearing impairment: audiometric results.

OBJECTIVE: To study the audiologic outcome of bone-anchored hearing aid (BAHA) application in patients with congenital unilateral conductive hearing impairment. STUDY DESIGN: Prospective audiometric evaluation on 20 patients. SETTING: Tertiary referral center. PATIENTS: The experimental group comprised 20 consecutive patients with congenital unilateral conductive hearing impairment, with a mean air-bone gap of 50 dB. METHODS: Aided and unaided hearing was assessed using sound localization and speech recognition-in-noise tests. RESULTS: Aided hearing thresholds and aided speech perception thresholds were measured to verify the effect of the BAHA system on the hearing acuity. All patients fulfilled the criteria that the aided speech reception thresholds or the mean aided sound field thresholds were 25 dB or better in the aided situation. Most patients were still using the BAHA almost every day. Sound localization scores varied widely in the unaided and aided situations. Many patients showed unexpectedly good unaided performance. However, nonsignificant improvements of 3.0 (500 Hz) and 6.9 degrees (3,000 Hz) were observed in favor of the BAHA. Speech recognition in noise with spatially separated speech and noise sources also improved after BAHA implantation, but not significantly. CONCLUSION: Some patients with congenital unilateral conductive hearing impairment had such good directional hearing and speech-in-noise scores in the unaided situation that no overall significant improvement occurred after BAHA fitting in our setup. Of the 18 patients with a complete data set, 6 did not show any significant improvement at all. However, compliance with BAHA use in this patient group was remarkably high. Observations of consistent use of the device are highly suggestive of patient benefit. Further research is recommended to get more insight into these findings.