Three cases of adult-onset Brown-Vialetto-Van Laere syndrome: Novel variants in SLC52A3 gene and MRI abnormalities.

Brown-Vialetto-Van Laere syndrome is a rare, autosomal, recessive neurological condition caused by variants in the riboflavin transporter genes SLC52A2 and SLC52A3. Here, we report on three cases. Case 1 was a 35-year-old woman from a consanguineous family who presented with progressive deafness, subacute multiple cranial nerve impairments (III, VII, IX, XII), and MRI abnormalities (including as hypersignal from the cranial nerves). The patient was homozygous for a novel SLC52A3variant. Case 2 was the woman's brother, who presented similar symptoms. Case 3 was an 18-year-old woman experiencing progressive hearing loss, bilateral steppage gait and a cranial nerves impairment (VII and XII). MRI revealed hypersignal in the root nerves and cauda equina. A novel heterozygous variant in SLC52A3 was identified. A subacute history of polyradiculoneuropathy along with progressive deafness, cranial nerve impairment, and MRI abnormalities should raise suspicion for Brown-Vialetto-Van Laere syndrome.

Adult Users of the Oticon Medical Neuro Cochlear Implant System Benefit from Beamforming in the High Frequencies.

The Oticon Medical Neuro cochlear implant system includes the modes Opti Omni and Speech Omni, the latter providing beamforming (i.e., directional selectivity) in the high frequencies. Two studies compared sentence identification scores of adult cochlear implant users with Opti Omni and Speech Omni. In Study 1, a double-blind longitudinal crossover study, 12 new users trialed Opti Omni or Speech Omni (random allocation) for three months, and their sentence identification in quiet and noise (+10 dB signal-to-noise ratio) with the trialed mode were measured. The same procedure was repeated for the second mode. In Study 2, a single-blind study, 11 experienced users performed a speech identification task in quiet and at relative signal-to-noise ratios ranging from -3 to +18 dB with Opti Omni and Speech Omni. The Study 1 scores in quiet and in noise were significantly better with Speech Omni than with Opti Omni. Study 2 scores were significantly better with Speech Omni than with Opti Omni at +6 and +9 dB signal-to-noise ratios. Beamforming in the high frequencies, as implemented in Speech Omni, leads to improved speech identification in medium levels of background noise, where cochlear implant users spend most of their day.

Long-term evaluation of sound localisation in single-sided deaf adults fitted with a BAHA device.

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 <20 dB, SDS > 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° without any rehabilitation (for a chance level RMS estimated at 81°). Initially, with the BAHA device, the RMS localisation error dropped to 51°. At the last follow-up evaluation, a significant decrease at 23° 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.