A Case Report of Riboflavin Treatment and Cochlear Implants in a 4-Year-Old Girl with Progressive Hearing Loss and Delayed Speech Development: Brown-Vialetto-Van Laere Syndrome.

BACKGROUND Brown-Vialetto-Van Laere (BVVL) syndrome is a rare autosomal recessive disorder caused by mutations in intestinal riboflavin transporter genes, resulting in a motor neuron disorder of childhood, which can be associated with sensorineural deafness. This report describes a 4-year-old Polish girl with progressive hearing loss and delayed speech development diagnosed with Brown-Vialetto-Van Laere syndrome who was treated with riboflavin (vitamin B2) and cochlear implants. CASE REPORT The case report concerns a girl from Poland who, at the age of 2 years 10 months, developed progressive atypical neurological symptoms of unknown etiology: ataxia of the upper and lower limbs, gait abnormalities, generalized muscle weakness, visual and hearing problems, and regression of speech development. A karyotype study (whole-exome sequencing) revealed alterations within SLC52A2, leading to the diagnosis of Brown-Vialetto-Van Laere syndrome and initiation of high-dose riboflavin treatment. As a 4-year-old child, she presented to the Institute of Physiology and Pathology of Hearing - World Hearing Center in Poland with progressive hearing loss and speech regression. Hearing tests revealed bilateral profound sensorineural hearing loss with auditory neuropathy. Surgical treatment was applied in the form of bilateral cochlear implantation. CONCLUSIONS This report shows the importance of genetic testing in infants who present with atypical symptoms or signs. In this case, the diagnosis of Brown-Vialetto-Van Laere syndrome resulted in timely correction of the genetic riboflavin (vitamin B2) deficiency and improved hearing following the use of cochlear implants.

Hyperbaric oxygen therapy as an adjunct to corticosteroid treatment in sudden sensorineural hearing loss: a retrospective study.

Background: A retrospective clinical study was conducted to test the impact of including hyperbaric oxygen therapy in the treatment of patients with sudden sensorineural hearing loss (SSNHL). Materials and methods: A total of 63 adult patients with sudden sensorineural hearing loss diagnosed between 2015 and 2023 were divided into two groups: 36 patients treated with intratympanic glucocorticoid and orally administered glucocorticoid who also underwent hyperbaric oxygen therapy and 27 patients treated with intratympanic glucocorticoid and prolonged orally administered glucocorticoid (without hyperbaric oxygen therapy). An audiological evaluation was performed using pure-tone audiometry. Results: Average hearing gain as measured by pure tone average was 12.5 dB HL (+/- 19.9 dB HL) in the patients treated with steroids combined with HBOT, and was 14.1 dB HL (+/- 17.9 dB) in the patients treated with steroids alone. Successful treatment (complete recovery or marked improvement) was observed in 27.8% of the patients in the first group and in 25.5% in the second group. There was no statistically significant difference between the groups. Conclusion: Both groups of patients-those treated with glucocorticoids and those treated with glucocorticoids and HBOT-had similar hearing outcomes. A prospective, controlled, and randomized study would provide more reliable knowledge about the efficacy of HBOT in treating SSNHL.

Detection of Age-Related Hearing Losses (ARHL) via Transient-Evoked Otoacoustic Emissions.

PURPOSE: The objective of the study was to identify subjects presenting hearing deficits, specifically age-related hearing losses (ARHL), via objective assessment methodologies. MATERIALS AND METHODS: Initially, 259 subjects (165 men, 94 women) were enrolled in the study. After the application of inclusion criteria, the final number was reduced to 88 subjects (49.8 ± 19.1 ys) subdivided into 64 normal and 83 ARHL cases. The subjects were assessed with traditional audiometry tests and with transiently evoked otoacoustic emissions (TEOAEs). Since each ear has its own acoustic signature, the TEOAE analyses were conducted in terms of ears and not subjects. The TEOAE data were processed by traditional and recurrence quantification analyses, leading to the estimation of the WWR (whole waveform reproducibility) and the new RAD2D (2-dimensional radius) parameters. A plot of WWR vs RAD2D was used to optimize the classification of the cases presenting ARHL. RESULTS: By using a WWR value of 70% as a classifier, the sensitivity of TEOAEs was estimated as 75.9% and the specificity as 89.1%. By using the RAD2D parameter (with a cut-off value of 1.78), a sensitivity value of 80.7% and a specificity value of 71.9% were obtained. When both parameters were used, a sensitivity value of 85.5% and a specificity value of 92.2% were estimated. In the latter classification paradigm, the number of false negatives decreased from 20 to 12 out of 83 ears (14%). CONCLUSION: In adult hearing screening assessments, the proposed method optimizes the identification of subjects with a hearing impairment correlated to the presence of age-related hearing loss.

Effect on vestibular function of cochlear implantation by partial deafness treatment-electro acoustic stimulation (PDT-EAS).

PURPOSE: Although the cochlear implantation procedure does not interfere with vestibular structures directly, both the vestibulum and the cochlea share the same inner ear fluid space, and this fluid may be responsible for transferring possibly damaging forces from one to the other. The purpose of the study is to assess postoperative vestibular function after partial deafness treatment-electro-acoustic stimulation (PDT-EAS) cochlear implantation. METHODS: Fifty-five patients were included in the study (30 females, 25 males, age 11-80, mean 41.8 ± 19.35). cVEMP and oVEMP were performed preoperatively and 1-3 months after cochlear implantation. Caloric and vHIT tests were conducted preoperatively and 4-6 months after cochlear implantation. RESULTS: Our study shows that, based on a wide range of electrodes, use of PDT-EAS is protective in terms of preserving vestibular function. It gives a rate of saccular damage of 15.79%, utricular damage of 19.04%, and a horizontal semicircular canal response reduction of 15.79%. CONCLUSIONS: PDT-EAS is protective in terms of preserving vestibular function. Nevertheless, it should be emphasized that the risk of vestibular damage cannot be totally eliminated even when hearing preservation techniques are adopted.

Electro-Natural Stimulation in Partial Deafness Treatment of Adult Cochlear Implant Users: Long-Term Hearing Preservation Results.

BACKGROUND: Due to the constant development of technology and medicine, the eligibility criteria for cochlear implantation (CI) are undergoing gradual expansion. OBJECTIVES: To provide long-term hearing preservation (HP) results for partial deafness treatment (PDT) of a group of adults using electro-natural stimulation (ENS). METHODS: We examined a database of medical records of patients who underwent CI in a single ENT center. We identified 12 adults (3 men and 9 women) who fitted the PDT-ENS classification. To calculate HP, we used the -HEARRING consensus and conducted statistical analyses using SPSS v24. RESULTS: In the long-term follow-up, 7 of 12 patients had complete HP and the remaining 5 had partial HP. None of the patients experienced significant hearing impairment. A significant improvement in speech understanding in both quiet and noise conditions was also observed. CONCLUSIONS: The use of minimally invasive surgery leads to excellent HP results in PDT-ENS patients, enabling them to enjoy the benefits of good speech discrimination which they would be unable to get from traditional hearing aids. Our findings support extending the inclusion criteria for CI to include this new group of patients who would otherwise obtain only limited benefit from conventional hearing aids.

Pathological sulcus vocalis: treatment approaches and voice outcomes in 36 patients.

PURPOSE: This is a retrospective study to evaluate the results of surgical treatment of patients with pathological sulcus vocalis. METHODS: Thirty-six patients with pathological sulcus underwent surgery and in 33 cases were performed additional injection laryngoplasty. The pre- and postoperative evaluation of patients included the GRBAS scale, stroboscopic, and objective acoustic voice assessment. The Voice Handicap Index questionnaire (VHI-30) was also used and the scores were obtained from 33 patients. RESULTS: The stroboscopic evaluation showed significant improvement of amplitude, mucosal wave, and glottal closure after treatment (p < 0.001). The VHI-30 scores decreased considerably indicating improvement due to the treatment for all aspects measured by VHI (p < 0.05, or p < 0.01). In all domains of GRBAS scale, the differences between preoperative and postoperative assessment were statistically significant (p < 0.001). We observed a significant change in Shim and APQ parameters (p < 0.05). Improvement was also observed in the sAPQ parameter, but it was not statistically significant (p = 0.051). For the remaining acoustic parameters, no changes were observed. CONCLUSIONS: The surgical procedure with supplementary injection laryngoplasty of the vocal folds is a good treatment option for pathological sulcus vocalis. The post-treatment self-assessment indicates the significant improvement in VHI, just as perceptual-acoustic evaluation of voice does. Patients with pathological sulcus frequently present with amplitude disturbances, what explains their significant improvement after treatment.

An Analysis of The Parameters Used In Speech ABR Assessment Protocols.

The aim of this study was to assess the parameters of choice, such as duration, intensity, rate, polarity, number of sweeps, window length, stimulated ear, fundamental frequency, first formant, and second formant, from previously published speech ABR studies. To identify candidate articles, five databases were assessed using the following keyword descriptors: speech ABR, ABR-speech, speech auditory brainstem response, auditory evoked potential to speech, speech-evoked brainstem response, and complex sounds. The search identified 1288 articles published between 2005 and 2015. After filtering the total number of papers according to the inclusion and exclusion criteria, 21 studies were selected. Analyzing the protocol details used in 21 studies suggested that there is no consensus to date on a speech-ABR protocol and that the parameters of analysis used are quite variable between studies. This inhibits the wider generalization and extrapolation of data across languages and studies.

Influence of Acoustic Overstimulation on the Central Auditory System: An Functional Magnetic Resonance Imaging (fMRI) Study.

BACKGROUND The goal of the fMRI experiment was to explore the involvement of central auditory structures in pathomechanisms of a behaviorally manifested auditory temporary threshold shift in humans. MATERIAL AND METHODS The material included 18 healthy volunteers with normal hearing. Subjects in the exposure group were presented with 15 min of binaural acoustic overstimulation of narrowband noise (3 kHz central frequency) at 95 dB(A). The control group was not exposed to noise but instead relaxed in silence. Auditory fMRI was performed in 1 session before and 3 sessions after acoustic overstimulation and involved 3.5-4.5 kHz sweeps. RESULTS The outcomes of the study indicate a possible effect of acoustic overstimulation on central processing, with decreased brain responses to auditory stimulation up to 20 min after exposure to noise. The effect can be seen already in the primary auditory cortex. Decreased BOLD signal change can be due to increased excitation thresholds and/or increased spontaneous activity of auditory neurons throughout the auditory system. CONCLUSIONS The trial shows that fMRI can be a valuable tool in acoustic overstimulation studies but has to be used with caution and considered complimentary to audiological measures. Further methodological improvements are needed to distinguish the effects of TTS and neuronal habituation to repetitive stimulation.

Relationship Between Distortion Product - Otoacoustic Emissions (DPOAEs) and High-Frequency Acoustic Immittance Measures.

BACKGROUND Pathologies that alter the impedance of the middle ear may consequently modify the DPOAE amplitude. The aim of this study was to correlate information from 2 different clinical procedures assessing middle ear status. Data from DPOAE responses (both DP-Gram and DP I/O functions) were correlated with data from multi-component tympanometry at 1000 Hz. MATERIAL AND METHODS The subjects were divided into a double-peak group (DPG) and a single-peak group (SPG) depending on 1000 Hz tympanogram pattern. Exclusion criteria (described in the Methods section) were applied to both groups and finally only 31 ears were assigned to each group. The subjects were also assessed with traditional tympanometry and behavioral audiometry. RESULTS Compared to the single-peak group, in terms of the 226 Hz tympanometry data, subjects in the DPG group presented: (i) higher values of ear canal volume; (ii) higher peak pressure, and (iii) significantly higher values of acoustic admittance. DPOAE amplitudes were lower in the DPG group only at 6006 Hz, but the difference in amplitude between the DPG and SPG groups decreased as the frequency increased. Statistical differences were observed only at 1001 Hz and a borderline difference at 1501 Hz. In terms of DPOAE I/O functions, significant differences were observed only in 4 of the 50 tested points. CONCLUSIONS The 1000-Hz tympanometric pattern significantly affects the structure of DPOAE responses only at 1001 Hz. In this context, changes in the properties of the middle ear (as detected by the 1000 Hz tympanometry) can be considered as prime candidates for the observed variability in the DP-grams and the DP I/O functions.

Expanding pediatric cochlear implant candidacy: A case study of electro-natural stimulation (ENS) in partial deafness treatment.

BACKGROUND: Some adolescents have hearing impairments characterized by normal or slightly elevated thresholds in the low and mid-frequency bands (below 1500 Hz) and nearly total deafness in the high frequency range. These patients often remain beyond the scope of effective hearing aid treatment. CASE REPORT: This study presents the case of a 16-year-old adolescent with good hearing in the range 125-1500 Hz and deafness at other frequencies. An implant was used to restore hearing at high frequencies, while preserving low and mid frequency acoustic hearing in the implanted ear. This is described as electro-natural stimulation (ENS) of the inner ear. CONCLUSIONS: The results demonstrate that low and mid frequency hearing (up to 1500 Hz) can be preserved using the round window surgical technique. A substantial improvement in speech discrimination was also observed when electrical stimulation on one side was combined with acoustic stimulation on both sides. There is scope to extend qualifying criteria for cochlear implantation to include adolescents who are suited to ENS.

Tone burst evoked otoacoustic emissions in different age-groups of schoolchildren.

INTRODUCTION: Otoacoustic emissions (OAEs) are believed to be good predictors of hearing status, particularly in the 1-4kHz range. However both click evoked OAEs (CEOAEs) and distortion product OAEs (DPOAEs) perform poorly at 0.5kHz. The present study investigates OAEs in the lower frequency range of 0.5-1kHz evoked by 0.5kHz tone bursts (TBOAEs) in schoolchildren and compares them with emissions evoked by clicks. METHODS: Measurements were performed for two groups of normally hearing schoolchildren. Children from 1st grade (age 6-7 years) and children from 6th grade (age 11-12 years). Tympanometry, pure tone audiometry, and OAE measurements of CEAOEs, 0.5kHz TBOAEs, and spontaneous OAEs (SOAEs) were performed. Additionally, analysis by the matching pursuit method was conducted on CEOAEs and TBOAEs to assess their time-frequency (TF) properties. RESULTS: For all subjects OAEs response levels and signal to noise ratios (SNRs) were calculated. As expected, CEOAE magnitudes were greatest over the range 1-4kHz, with a substantial decrease below 1kHz. Responses from the 0.5kHz TBOAEs were complementary in that the main components occurred between 0.5 and 1.4kHz. In younger children, TBOAEs had SNRs 4-8dB smaller in the 0.5-1.4kHz range. In addition, CEOAEs had lower SNRs in the 0.7-1.4kHz range, by 3-5dB. TBOAEs in younger children had maximum SNRs shifted toward 1-1.4kHz, whereas in older children it was more clearly around 1kHz. The differences in response levels were less evident. The presence of SOAEs appreciably influenced both CEOAEs and TBOAEs, and TF properties of both OAEs did not differ significantly between grades. CONCLUSION: TBOAEs evoked at 0.5kHz can provide additional information about frequencies below 1kHz, a range over which CEOAEs usually have very low amplitudes. The main difference between the two age groups was that in older children CEOAEs and 0.5kHz TBOAEs had higher SNRs at 0.5-1.4kHz. Additionally, for ears with SOAEs, 0.5kHz TBOAEs had higher response levels and SNRs similar to CEOAEs.

Tone-burst and click-evoked otoacoustic emissions in subjects with hearing loss above 0.25, 0.5, and 1 kHz.

OBJECTIVE: The aim of this study was to assess the diagnostic value of click-evoked otoacoustic emissions (CEOAEs) and tone-burst evoked otoacoustic emissions (TBOAEs) in identifying the residual hearing of subjects with partial deafness (PD)--a condition in which subjects have normal thresholds at low frequencies and severe-to-profound sensorineural hearing loss at high frequencies. DESIGN: Otoacoustic emissions (OAEs) were measured in 23 subjects with severe-to-profound sensorineural hearing loss, 46 with PD, and 15 with normal hearing (NH). The PD subjects were divided into three subgroups according to the frequency at which hearing loss started: PD250 (NH up to 250 Hz)--20 ears; PD500 (NH to 500 Hz)--18 ears; and PD1000 (NH up to 1000 Hz)--20 ears. Standard-click stimuli, and 0.5- and 1-kHz tone bursts (average amplitude 80 ± 3 peak dB SPL, nonlinear averaging protocol), were used. The tone bursts were four cycles long with equal rise/fall times and no plateau. Recordings were performed in two acquisition windows: a standard one 20-msec wide for clicks and 1-kHz tone bursts, and one 30-msec wide for 0.5-kHz tone bursts. OAE response levels, signal-to-noise ratios, and reproducibility were examined in terms of wide-band responses and in terms of half-octave bands centered at 0.5 and 1 kHz. Receiver operator characteristic analysis was used to determine which type of stimuli best differentiates partially deaf subjects from subjects with severe-to-profound sensorineural hearing loss through the range 125 to 8000 Hz. RESULTS: Nearly all recordings from groups PD500 and PD1000 showed 0.5-kHz TBOAEs. By contrast, 1-kHz TBOAEs and CEOAEs were generally found only in the PD1000 group. It was also possible to detect 0.5-kHz TBOAE responses in approximately 50% of ears from the PD250 group. Receiver operator characteristic analysis demonstrated that click and 1-kHz tone bursts provide a good diagnostic measure of residual hearing even when hearing loss starts as low as 1 kHz; moreover, the 0.5-kHz TBOAE could identify residual hearing when hearing loss started just > 0.5 kHz, a situation in which clicks failed to elicit a response. In the case of partially deaf subjects, diagnosis was more accurate when OAEs were analyzed by 1/2 octave bands. Furthermore, the use of a 0.5-kHz tone burst gave responses in the highest number of subjects, even when there were hearing losses in neighboring bands. CONCLUSIONS: The results of this study indicate that a 0.5-kHz TBOAE is a more powerful test than the standard CEOAE when cochlear function at low frequencies is of interest. The 0.5-kHz TBOAE may be used to identify partial deafness in patients who generally fail to show a response to the commonly used clicks. In addition, use of 1/2 octave-band filtering can increase the reproducibility and power of the test.