Brown-Vialetto-Van Laere syndrome, a rare disorder associated with motor, sensory and cranial nerve neuropathy, is caused by mutations in riboflavin transporter genes SLC52A2 and SLC52A3. Hearing loss is a characteristic feature of Brown-Vialetto-Van Laere syndrome and has been shown in recent studies to be characterised by auditory neuropathy spectrum disorder.

This study reports the detailed audiovestibular profiles of four cases of Brown-Vialetto-Van Laere syndrome with SLC52A2 and SLC52A3 mutations. All of these patients had auditory neuropathy spectrum disorder.

There was significant heterogeneity in vestibular function and in the benefit gained from cochlear implantation. The audiological response to riboflavin therapy was also variable, in contrast to generalised improvement in motor function.

We suggest that comprehensive testing of vestibular function should be conducted in Brown-Vialetto-Van Laere syndrome, in addition to serial behavioural audiometry as part of the systematic examination of the effects of riboflavin.

To evaluate the utility of pre-operative transtympanic electrically evoked auditory brainstem responses and post-operative neural response telemetry in auditory neuropathy spectrum disorder patients.

Four auditory neuropathy spectrum disorder patients who had undergone cochlear implantation and used it for more than one year were studied. All four patients underwent pre-operative transtympanic electrically evoked auditory brainstem response testing, intra-operative and post-operative (at 3, 6 and 12 months after switch-on) neural response telemetry, and out-patient cochlear implant electrically evoked auditory brainstem response testing (at 12 months).

Patients with better waveforms on transtympanic electrically evoked auditory brainstem response testing showed superior performance after one year of implant use. Neural response telemetry and electrically evoked auditory brainstem response measures improved in all patients.

Inferences related to cochlear implantation outcomes can be based on the waveform of transtympanic electrically evoked auditory brainstem responses. Robust transtympanic electrically evoked auditory brainstem responses suggest better performance. Improvements in electrically evoked auditory brainstem responses and neural response telemetry over time indicate that electrical stimulation is favourable in auditory neuropathy spectrum disorder patients. These measures provide an objective way to monitor changes and progress in auditory pathways following cochlear implantation.

To describe our finding of increased ossification of the modiolus in paediatric patients with auditory neuropathy who met criteria for cochlear implantation.

A retrospective case series with a comparison group at a tertiary referral centre is described. Seven paediatric patients with auditory neuropathy who met criteria for and underwent cochlear implantation were identified. Fifteen paediatric implantees with bilateral profound sensorineural hearing loss were included as the comparison group. All patients underwent pre-operative computed tomography. Attenuation at the modiolus was measured in all subjects by a neuroradiologist blinded to clinical information.

Attenuation values in the modiolus in the auditory neuropathy patients (mean ± standard deviation = 796.2 ± 53.0 HU) was statistically significantly higher than in the comparison sensorineural hearing loss patients (267.1 ± 45.6 HU; p < 0.05, t-test).

Patients with auditory neuropathy who meet criteria for cochlear implantation demonstrate significantly higher modiolar attenuation on computed tomography imaging, consistent with increased ossification at the modiolus.

To investigate whether the aetiology for hearing impairment in neonates with unilateral auditory neuropathy spectrum disorder could be explained by structural abnormalities such as cochlear nerve aplasia, a cerebellopontine angle tumour or another identifiable lesion.

In this prospective case series, 17 neonates were diagnosed with unilateral auditory neuropathy spectrum disorder on electrophysiological testing. Diagnostic audiology testing, including auditory brainstem response testing, was supplemented with computed tomography and/or magnetic resonance imaging.

Ten of the neonates (59 per cent) showed evidence for cochlear nerve aplasia. Of the remaining seven, four were shown to have another abnormality of the temporal bone on imaging. Only three neonates (18 per cent) were not diagnosed with cochlear nerve aplasia or another lesion. Three computed tomography scans were reported as normal, but subsequent magnetic resonance imaging revealed cochlear nerve aplasia.

Auditory neuropathy spectrum disorder as a unilateral condition mandates further investigation for a definitive diagnosis. This series demonstrates that most neonates with unilateral auditory neuropathy spectrum disorder had pathology as visualised on computed tomography and/or magnetic resonance imaging scans. Magnetic resonance imaging is an appropriate first-line imaging modality.

The vestibulocochlear nerve is a sensory nerve that serves the organs of hearing and equilibrium. Neuropathies of the nerve, particularly auditory neuropathy, may be caused by primary demyelination or axonal disease. Cochlear amplification function is normal in cases of auditory neuropathy, but afferent neural conduction in the auditory pathway is disordered. It is highly probable that the vestibular nerve has some involvement in disorders affecting the cochlear nerve.

To provide an overview of vestibular test findings in individuals with auditory neuropathy.

A structured literature search was carried out, with no restrictions to the dates searched.

Auditory neuropathy implicated the vestibular branch of the VIIIth cranial nerve as well as the cochlear nerve. However, there was variability in terms of vestibular test findings.

Description of a female patient with diagnosed Kjer's disease and sensorineural hearing loss, who specifically complained of a progressive inability to understand speech in noisy situations.

Case report.

A 30-year-old, Caucasian woman with Kjer's disease.

Audiological assessment showed low-frequency sensorineural hearing loss and a disproportionate deterioration in speech discrimination. This inconsistency gave rise to suspicion of possible aggravation. Follow-up testing showed that brainstem responses were absent, while clear otoacoustic emissions and cochlear microphonics were present. Hearing aids were fitted but no improvement was shown.

This case shows a combination of auditory neuropathy and Kjer's optic neuropathy. It also illustrates that the combination of unexplained hearing loss and apparently inconsistent audiometric outcomes may be associated with auditory neuropathy. Such unexpected hearing evaluation outcomes may be due to other neurological conditions, such as Kjer's disease.

This study aimed to evaluate the effect of lengthening the transition duration of selected speech segments upon the perception of those segments in individuals with auditory dys-synchrony.

Thirty individuals with auditory dys-synchrony participated in the study, along with 30 age-matched normal hearing listeners. Eight consonant–vowel syllables were used as auditory stimuli. Two experiments were conducted. Experiment one measured the ‘just noticeable difference’ time: the smallest prolongation of the speech sound transition duration which was noticeable by the subject. In experiment two, speech sounds were modified by lengthening the transition duration by multiples of the just noticeable difference time, and subjects' speech identification scores for the modified speech sounds were assessed.

Subjects with auditory dys-synchrony demonstrated poor processing of temporal auditory information. Lengthening of speech sound transition duration improved these subjects' perception of both the placement and voicing features of the speech syllables used.

These results suggest that innovative speech processing strategies which enhance temporal cues may benefit individuals with auditory dys-synchrony.

Auditory neuropathy is a disorder characterised by preservation of outer hair cell function, with normal otoacoustic emissions and/or cochlear microphonics, but an absent or distorted auditory brainstem response.

This study aimed to objectively assess hearing thresholds in patients with auditory neuropathy, using the auditory steady state response.

Thirteen patients with auditory neuropathy and 15 normal hearing subjects were examined. Audiological evaluation included basic audiological tests, otoacoustic emissions, auditory brainstem response and auditory steady state response.

In the auditory neuropathy patients, the auditory brainstem response was absent in 11 patients, while the auditory steady state response was absent in only three.

The auditory steady state response may serve as a valuable objective measure for assessing the hearing threshold across different frequencies in patients with auditory neuropathy. We recommend that auditory steady state response be used to complete the evaluation of patients with auditory neuropathy.

To report the case of an adult patient who developed auditory complaints following xylene exposure, and to review the literature on the effects of solvent exposure on hearing.

The patient presented with a gradual deterioration in his ability to hear in difficult acoustic environments and also to hear complex sounds such as music, over a 40-year period. His symptoms began following exposure to the solvent xylene, and in the absence of any other risk factor. Our audiological investigations revealed normal otoacoustic emissions with absent auditory brainstem responses and absent acoustic reflexes in both ears, consistent with a diagnosis of bilateral auditory neuropathy. Central test results were also abnormal, indicating possible involvement of the central auditory pathway.

To our knowledge, this is the first report of retrocochlear hearing loss following xylene exposure. The test results may provide some insight into the effect of xylene as an isolated agent on the human auditory pathway.