[Study on the clinical characteristics of auditory neuropathy patients with normal pure tone average or mild hearing loss].

Objective: The purpose of this study was to analyze the clinical characteristics of auditory neuropathy (AN) patients with normal hearing or mild hearing loss. Methods: Data from Multicenter Study on Clinical Diagnosis and Intervention of Acoustic Neuropathy (registration number: ChiCTR2100050125). According to the Chinese clinical practice guideline of auditory neuropathy (version 2022), these patients divided into two groups: the normal hearing group (PTA Normal, PTAN group, the average hearing threshold<20 dB HL) and the mild hearing loss group (PTA Mild hearing loss, PTAM group, the average hearing threshold between 20-35 dBHL). The audiology characteristics, clinical features, and follow-up were analyzed. Data analysis was conducted using GraphPad Prism 8 and SPSS 20.0 software. Results: A total of 75 AN with normal hearing or mild hearing loss were included in this study. The PTAN group consisted of 19 patients (38 ears), including 12 males and 7 females. The average onset age was (16.9±4.5) years old, while the test age was (22.1±5.8) years old for PTAN group. The PTAM group consisted of 56 patients (112 ears), including 29 males and 27 females. The average onset age was (16.2±7.9) years old, while the test age was (23.9±9.0) yeas old for PTAM group. The average hearing threshold of low frequency (0.125-0.5 kHz) was significantly decreased. ABR disappeared in 86.00% (126/150) of the patients. The speech recognition rate was 71.80±22.44% in the PTAN group and 58.08±29.28% in the PTAM group.-SP/AP was 0.98±0.47 in the PTAN and 1.07±0.63 in PTAM group; 40 (53.33%) patients had tinnitus. 29 patients (58 ears) were followed up, including 10 patients (20 ears) in the PTAN group and 19 patients (38 ears) in the PTAM group. There was no significant change in hearing threshold in short-term follow-up (<3 years). With the extension of the disease duration (>3 years), the PTAN group tended to decrease at low frequency, and the PTAM group decreased at high frequency first. The hearing threshold at 0.25 kHz in the PTAN group and 4 kHz in the PTAM group decreased significantly. Conclusions: AN patients with normal hearing or mild hearing loss exhibit abnormal results in audiological examination results, including ABR, electrocochleography and speech discrimination score. A combination of audiological tests should be used to make the diagnosis of AN. With the progression of the disease, AN with normal hearing or mild hearing loss tends to decrease.

[Recognition of unilateral auditory neuropathy in children].

Objective: This study aimed to compare the audiological characteristics between children with unilateral auditory neuropathy (UAN) and single-sided deafness (SSD) to establish a valid basis for the differential diagnosis of children with UAN. Methods: A retrospective analysis was conducted on audiological and imaging evaluations of children with UAN and SSD who were treated at Beijing Children's Hospital of Capital Medical University between May 2015 and June 2023. There were 17 children with UAN, comprising 10 males and 7 females, with an average age of 4.7 years. Additionally, there were 43 children with SSD, consisting of 27 males and 16 females, with an average age of 6.5 years. Audiological assessments included Auditory brainstem response (ABR), Steady-state auditory evoked potential (ASSR), Behavioural audiometry, Cochlear microphonic potential (CM), Distortino-product otoacoustic emission (DPOAE), and acoustic immittance test. The results of the audiological assessment and imaging phenotypic between the two groups of children were compared and analyzed by applying SPSS 27.0 statistical software. Results: (1) The UAN group (77.8%) had a significantly higher rate of ABR wave IIIL than the SSD group (20.9%) (P<0.01). The PA thresholds at 500 Hz and 1 000 Hz of children with SSD were higher than those of children with UAN, while the ASSR thresholds at 500 Hz, 1000 Hz, 2 000 Hz, and 4 000 Hz of children with SSD were significantly higher than those of children with UAN (P<0.05). (2) The degree of hearing loss in both UAN and SSD children was predominantly complete hearing loss. The percentage of complete hearing loss was significantly higher (χ²=4.353, P=0.037) in the SSD group (93.0%, 40/43) than in the UAN group (63.6%, 7/11). However, the percentage of profound hearing loss was significantly higher in the UAN group (27.3%, 3/11) than in the SSD group (2.3%, 1/43) (Fisher's exact test, P=0.023). In terms of hearing curve configuration, the percentage of flat type was significantly higher in the SSD group (76.7%, 33/43) than in the UAN group (36.4%, 4/11). The proportion of the UAN group (27.3%, 3/11) was significantly higher than that in the SSD group (2.3%, 1/43) in ascending type (P<0.05). There were no statistically significant differences in the hearing curves of the declining type and other types between the two groups (P>0.05). (3) The proportion of imaging assessment without abnormality was significantly more common in the UAN group (81.8%) than in the SSD group (37.1%) (χ²=6.695, P=0.015). Conclusions: Compared to children with SSD, the occurrence of wave IIIL on the ABR test was significantly more common in children with UAN. The percentage of ascending hearing curves was significantly higher in children with UAN than in children with SSD. ASSR thresholds were significantly lower in children with UAN. The normal imaging phenotype was significantly more common in children with UAN than in children with SSD.

[Research on the variation in distortion product otoacoustic emissions in patients with auditory neuropathy during the natural course of the disease].

Objective: The purpose of this study was to investigate the characteristics of distortion product otoacoustic emissions (DPOAE) in patients with auditory neuropathy (AN). The factors affecting DPOAE elicitation rate of each frequency, elicitation rate of each ear and change rate of first and last diagnosis in the natural course were analyzed. Methods: The sample was obtained from the Multicenter Study on Clinical Diagnosis and Intervention of AN (registration number: ChiCTR2100050125), and the diagnostic criteria for AN were based on the Chinese Clinical Practice Guidelines of Auditory Neuropathy (version 2022). Patients with bilateral AN who underwent 2 or more DPOAE tests were screened and divided into infant groups (≤3 years old) and non-infant groups (>3 years old) according to the age of detection, and the trend of DPOAE elicitation rate of each frequency, elicitation rate of each ear and change rate in the natural course of disease were analyzed, in order to explore the relevant influencing factors. Results: A total of 165 patients (330 ears) with AN were included in the study. The overall DPOAE elicitation rate per ear was 77.0%±29.4% at the initial diagnosis and 65.1%±35.2% at the final diagnosis, with a reduction observed in the elicitation rate of 171 ears (51.82%). In the infant group, there were 49 cases (98 ears), including 28 males and 21 females, whose found age ranged from 0 to 3 years old, with a median age of 0.7 years. DPOAE elicitation rate per ear was 57.9%±35.5% in the initial diagnosis, and 32.4%±32.1% in the final diagnosis, with a reduction observed in the elicitation rate of 69 ears (70.41%). In the non-infant group, there were 116 cases (232 ears), including 59 males and 57 females, ranging in found age from 3.9 to 40 years old, with a median age of 14 years old. DPOAE elicitation rate per ear was 84.6%±23.4% in the initial diagnosis, and 78.3%±27.1% in the final diagnosis, with a reduction observed in the elicitation rate of 102 ears (43.97%). Age was found to be correlated with DPOAE changes by multicategorical unordered logistic regression analysis (B=-0.224, OR=0.799, P<0.001). Conclusions: The elicitation rate of DPOAE in AN patients decreases or even disappears with increasing disease duration; The rate of DPOAE extraction is found to be lower in infant patients with auditory neuropathy (AN) compared to non-infant AN patients. Additionally, it is observed that the decrease in DPOAE extraction rate is more pronounced in infant AN patients as the disease progressed, as compared to non-infant AN patients. DPOAE and cochlear microphonic potentials should be fully combined for accurate diagnosis, and regular follow-up should be conducted to understand the natural course of the disease and give personalized guidance and assistance.

Auditory Neuropathy Spectrum Disorder Progressing with Motor and Sensory Neuropathy Caused by an ATP1A1 Variant.

We encountered a 27-year-old Japanese woman with sensorineural deafness progressing to motor and sensory neuropathy. At 16 years old, she had developed weakness in her lower extremities and hearing impairment, which gradually deteriorated. At 22 years old, combined audiological, electrophysiological, and radiological examination results were consistent with auditory neuropathy spectrum disorder (ANSD). Genetic analyses identified a previously reported missense variant in the ATP1A1 gene (NM_000701.8:c.1799C>G, p.Pro600Arg). Although sensorineural deafness has been reported as a clinical manifestation of ATP1A1-related disorders, our case suggested that ANSD may underlie the pathogenesis of deafness in ATP1A1-related disorders. This case report broadens the genotype-phenotype spectrum of ATP1A1-related disorders.

Predicting the Impact of OTOF Gene Missense Variants on Auditory Neuropathy Spectrum Disorder.

Auditory neuropathy spectrum disorder (ANSD) associated with mutations of the OTOF gene is one of the common types of sensorineural hearing loss of a hereditary nature. Due to its high genetic heterogeneity, ANSD is considered one of the most difficult hearing disorders to diagnose. The dataset from 270 known annotated single amino acid substitutions (SAV) related to ANSD was created. It was used to estimate the accuracy of pathogenicity prediction using the known (from dbNSFP4.4) method and a new one. The new method (ConStruct) for the creation of the protein-centric classification model is based on the use of Random Forest for the analysis of missense variants in exons of the OTOF gene. A system of predictor variables was developed based on the modern understanding of the structure and function of the otoferlin protein and reflecting the location of changes in the tertiary structure of the protein due to mutations in the OTOF gene. The conservation values of nucleotide substitutions in genomes of 100 vertebrates and 30 primates were also used as variables. The average prediction of balanced accuracy and the AUC value calculated by the 5-fold cross-validation procedure were 0.866 and 0.903, respectively. The model shows good results for interpreting data from the targeted sequencing of the OTOF gene and can be implemented as an auxiliary tool for the diagnosis of ANSD in the early stages of ontogenesis. The created model, together with the results of the pathogenicity prediction of SAVs via other known accurate methods, were used for the evaluation of a manually created set of 1302 VUS related to ANSD. Based on the analysis of predicted results, 16 SAVs were selected as the new most probable pathogenic variants.

Auditory Neuropathy Spectrum Disorder in the White Sutton Syndrome.

White Sutton Syndrome is a rare autosomal dominant disorder resulting from a de novo mutation of Pogo Transposable Element Derived with Zinc Finger domain gene. The phenotype is characterized by a wide spectrum of cognitive dysfunction and developmental delays. Hearing loss is frequently mentioned as one of the symptoms of this rare disease, but details are usually scant. We report a case of a male child affected by White Sutton Syndrome and sensorineural hearing loss, with audiological findings of an auditory neuropathy spectrum disorder, a dysfunction of the auditory pathway with preserved cochlear outer hair cell function. Up to date, the present case is the first description of hearing loss due to an auditory neuropathy spectrum disorder in White Sutton Syndrome. A comprehensive audiological assessment is therefore mandatory in all White Sutton Syndrome patients in order to recognize a possible auditory neuropathy disorder and then avoid misdiagnosis, or erroneous clinical management.

Intracochlear electrocochleography findings in cochlear implant recipients with auditory neuropathy spectrum disorder.

OBJECTIVES: This study aimed to compare intracochlear electrocochleography (ECochG) findings in a group of cochlear implant (CI) recipients with auditory neuropathy spectrum disorder (ANSD) with a group of CI recipients with sensorineural hearing loss (SNHL). Auditory outcome and spectral resolution findings were also compared among CI recipients with and without cochlear microphonic (CM) responses. METHODS: This single-center, prospective cohort study was undertaken at a tertiary referral center. CM responses by the intracochlear ECochG test were recorded in CI recipients at 0.25-2 kHz. Speech, spatial, and hearing quality (SSQ) outcomes and spectral resolution measured with the spectral-temporally modulated ripple test were obtained for each recipient. The study included 62 implanted ears in 46 recipients, of which 59% (n = 27) were male and 41% (n = 19) were female. Twenty-nine ears with ANSD and 33 ears with SNHL were included. The mean age of the participants was 11 years. The results compared the intracochlear ECochG findings of the ANSD group with those of the SNHL group. RESULTS: Participants were divided into two groups with and without obtainable CM responses. CM responses were obtained in 13 of 29 ears in the ANSD group and 14 of 33 ears in the SNHL group. CM thresholds obtained were better according to behavioral audiometric responses in some frequencies in the ANSD group. No significant difference was found in the auditory outcome and spectral resolution among CI recipients with and without CM responses. CONCLUSIONS: Intracochlear ECochG has a limited potential clinical value for monitoring ANSD. CM thresholds obtained using ECochG may not reflect behavioral hearing thresholds.

Newborn hearing screening methodology impacts the timing of diagnosis for auditory neuropathy spectrum disorder.

INTRODUCTION: Auditory Neuropathy Spectrum Disorder (ANSD) accounts for 10 % to 15 % of pediatric hearing loss. In most cases, otoacoustic emissions (OAE) are present as the outer hair cell function is normal, and the auditory brainstem response (ABR) is abnormal. Newborn hearing screen (NBHS) is completed using OAE or ABR depending on the institution. Because OAEs are often present in ANSD, NBHS done solely with OAE can miss and delay diagnosis of patients with ANSD. OBJECTIVES: To assess whether NBHS methodology impacts the age of diagnosis of ANSD. METHODS: This is a retrospective study of patients, 0-18 years of age, diagnosed with ANSD at two tertiary pediatric hospitals from 1/01/2010 to 12/31/2018 after referral from NBHS performed in the community. Data recorded included patient demographics, method of NBHS, NICU stay, and age at ANSD diagnosis. RESULTS: 264 patients were diagnosed with ANSD. Of those, 123 (46.6 %) were female, and 141 (53.4 %) were male. Ninety-seven (36.8 %) were admitted to NICU and the mean stay was 6.98 weeks (STD = 10.7; CI = 4.8-9.1). The majority (244, 92.4 %) of patients had NBHS with ABR, and 20 (7.5 %) had NBHS with OAE. Patients screened with ABR were diagnosed with ANSD earlier than those who screened with OAE, with a mean age of 14.1 versus 27.3 weeks (p = 0.0397, CI = 15.2-39.3). Among those screened with ABR, median age at diagnosis was 4 months for NICU infants and 2.5 months for infants with no history of NICU stay over 5 days. In comparison, median diagnosis age was 8 months for non-NICU infants screened with OAEs. CONCLUSION: Patients with ANSD who had NBHS with ABR were diagnosed earlier than those with OAE. Our data suggest that universal screening with ABR may facilitate earlier diagnosis of ANSD and earlier evaluation for aural rehabilitation, especially in high-risk cohorts such as NICU patients. Further research is needed into factors that contribute to earlier diagnosis among patients screened with ABR.

[Peculiarities of CI processor fitting in children with auditory neuropathy spectrum disorders]. / Osobennosti nastroiki protsessora kokhlearnogo implantata u detei so slukhovoi (auditornoi) neiropatiei.

The peculiarities of cochlear implant (CI) processor fitting in children with auditory neuropathy spectrum disorders (ANSD) were investigated. At the 1-st fitting of the CI processor a standard protocol of parameters was used in all patients, including patients with cochlear nerve hypoplasia. After the initial fitting session, the behavioral tonal thresholds with CI in 55% of patients were 30-35 dB, in 32.% of patients - 40-50 dB. After 3-6 months, 65% of children with ANSD showed significant progress in auditory-speech development, which made it possible to use the standard protocol of tuning parameters for them with the most comfortable and threshold levels of electrical stimulation adjusted according to the child's reactions. The best dynamics was observed in 2 children with presynaptic ANSD with a confirmed DFNB9 (OTOF) gene mutation. In 35% of children, there was no progress in distinguishing speech signals and instability of reactions to sounds persisted after 6 months using of CI and speech therapy training, despite the low tonal thresholds of hearing. In these children the coding strategy was changed, the stimulation frequency was reduced, and the pulse width was increased. This helped to improve the discrimination of sounds with CI and progress in the child's speech development. The results demonstrate that children with ANSD require more frequent correction of CI processor settings: 1st year - every 3 months, then at least 2 times a year until the optimal coding strategy and settings are achieved. To predict the effectiveness of CI and determine the optimal tactics for setting up the CI processor in patients with ANSD, the preoperative examination should include MRI of the cerebellopontine angle to detect anomalies of the cochlear nerve and genetic examination to identify mutations that cause hearing impairment in patients with ANSD.

Short-term outcomes of infants with hyperbilirubinemia-associated auditory neuropathy spectrum disorder in neonatal intensive care unit.

OBJECTIVES: Hyperbilirubinemia is a high-risk factor for auditory neuropathy spectrum disorder (ANSD) as well as hearing loss in general. This study described the outcomes of hyperbilirubinemia-associated ANSD infants diagnosed in hearing screening in the neonatal intensive care unit (NICU). METHODS: A total of 578 children with hyperbilirubinemia admitted to the NICU between October 2020 and October 2021 were included in this study. The distortion product otoacoustic emission (DPOAE) and automatic auditory brainstem response (AABR) were combined for hearing screening, and those who failed the DPOAE or/and AABR underwent an auditory brainstem response (ABR) test. Infants with ANSD were followed up for 12 months. RESULTS: Forty infants (40/578, 6.9%) failed the DPOAE or/and AABR tests, of which, 13 (13/578, 2.2%) were diagnosed as ANSD, and 27 (27/578, 4.7%) were diagnosed as having sensorineural hearing loss (SNHL). Of the 13 ANSD infants followed up for 12 months, 7 recovered, 3 improved, 3 did not recover, and 1 was lost, equating to improved or recovered hearing in 75% (9/12) of ANSD infants at 12 months of age. Moreover, the maximum bilirubin in recovered or improved ANSD infants was 408.6 ± 129.0 µmol/L, while the maximum bilirubin in unrecovered ANSD infants was 749.3 ± 323.0 µmol/L. Furthermore, poorly differentiated and absent ABR waveforms were observed in 6 and 14 ears at 1 month, 2 ears were lost, 6 (6/6, 100.0%) and 6 (6/12, 50.0%) ears were recovered or improved at 12 months of age. CONCLUSION: s: The incidence of hyperbilirubinemia associated-ANSD was 2.2% of infants screened in the NICU. ANSD caused by hyperbilirubinemia may be transient, with most infants improving or recovering hearing by 12 months of age. Infants with poorly differentiated ABR waveforms and low bilirubin concentration are more likely to recover and hearing aids are not recommended in hyperbilirubinemia-associated ANSD below 12 months of age.

A 15-Year Review of 260 Children With Auditory Neuropathy Spectrum Disorder: I. Demographic and Diagnostic Characteristics.

OBJECTIVES: The aim of the study was to review the demographic and clinical characteristics of all pediatric patients diagnosed with auditory neuropathy spectrum disorder (ANSD) by a pediatric health care system from 2005 to 2020 and examine whether or not our diagnostic capabilities in an ANSD population have evolved as our institutional experience has grown and knowledge in the field has expanded. DESIGN: This was a retrospective study reviewing the demographic data, medical history, imaging studies, audiological and speech-language data, type of audiological intervention and mode of communication in 260 pediatric patients diagnosed with ANSD over a 15-year period. RESULTS: The study revealed that male and female children were equally affected with all levels of hearing detection being represented and that about 40% of affected children were premature and most were admitted to the neonatal intensive care unit. More than a third of our patients presented with a complex medical history and/or neural involvement while about 30% were full-term newborns with normal pregnancy, no prenatal complications or infections, normal birth weight, no neonatal intensive care unit need, no hyperbilirubinemia, no respiratory distress requiring ventilation, and no known syndrome. Review of audiological findings confirms that otoacoustic emissions are not always present in ANSD cases, and that the presence of an abnormal wave V on the auditory brainstem response tracings (only present at high intensities and with an absent intensity/latency function) is not a rare finding and should not immediately be dismissed as not being a case of ANSD. CONCLUSIONS: This review of ANSD diagnosis over a 15-year period clearly reveals the drastic improvements made in the identification of ANSD, with a drastic decrease in the age at diagnosis and a reduction in the percentage of misdiagnosed patients. The study also stresses the need for continued improvement in different areas such as genetic studies and physiological measures to help clinicians distinguish between pre- and postsynaptic ANSD.

[The follow-up study on patients of children with auditory neuropathy].

Objective:To analyse the audiological characteristics of patients of children with auditory neuropathy（AN） for gaining a better understanding of the audiological characteristics prognosis of patients with AN. Methods:58 patients（108 ears） of children with AN were enrolled, all of whom had received further consultation within 10 years after the first consultation. Behavioral audiometry test, tympanogram test, distortion product otoacoustic emission（DPOAE）, auditory brainstem response（ABR）, cochlear microphonics（CM）, auditory steady-state response（ASSR） were performed on these patients. Results:①There were no significant changes in behavioral audiometry threshold between first and further consultation（P>0.05）；②Tympanograms were mostly of type A or As； ③The patients had worse DPOAE results in the further consultation, while the elicitation rate of other frequencies were higher except for the lower elicitation rate of 750 Hz and 1000 Hz；④There were 7 ears that had present ABR and CM in the first consultation, while three ears had present ABR and CM in the further consultation；⑤Except for 500 Hz, other frequency thresholds of ASSR in the further consultation were statistically significant compared with those in the first consultation（P<0.01）；⑥The threshold of behavioral audiometry at 4000 Hz was higher than that of ASSR, and there was no obvious correlation between the other frequencies（P>0.05）. Conclusion:There is a tendency of hearing deterioration in patients of children with AN. Patients with no DPOAE elicitation and no ABR elicitation or serious abnormalities need CM test to avoid misdiagnosis. The hearing status and speech communication ability of patients should be continuously monitored. Parents should pay attention to the changes in the behavioral ability of the children in daily life and make regular subsequent visits.

Results of cochlear implant surgery in patients with auditory neuropathy.

OBJECTIVES: The primary aim of this study was to analyze the benefit of cochlear implants for patients with auditory neuropathy. The secondary aim was to identify risk factors for auditory neuropathy. MATERIALS AND METHODS: Patients with cochlear implants (CIs) who were educated in hearing rehabilitation schools were included in the study. A total of 175 children were operated on for cochlear implantation between August 2019 and August 2021 in the department of otorhinolaryngology at different centers in Turkey, and while 16 (9.1%) of those patients had auditory neuropathy spectrum disorder (ANSD), 159 (90.9%) had sensorineural hearing loss (SNHL). Differences in auditory perception between the two groups were examined. Auditory perception tests were applied for these patients 6 months after CI surgery. The auditory perception performances of the patients were evaluated with the Evaluation of Auditory Responses to Speech (EARS) battery, including the Littlears, Lip, Bis4, Bis12, Cap, Sir, Mtp-3, Mtp-6, Mtp-12, Matrix A1, and Gasp tests. RESULTS: All patients had profound bilateral SNHL. Four auditory perception tests (Littlears, Bis-12, Sir, Matrix A1) showed similar results between patients with ANSD and SNHL, but seven auditory perception tests (Lip, Bis-4, Cap, Mtp-3, Mtp-6, Mtp-12, Gasp) showed significantly higher results among patients with SNHL. Hyperbilirubinemia, prematurity, consanguineous marriage, and family history of hearing loss were found to be common among patients with ANSD. CONCLUSIONS: ANSD patients who do not benefit from hearing aids benefit from CI surgery.

Speech and Language outcomes in Auditory Neuropathy Spectrum Disorder (ANSD) children managed with amplification.

OBJECTIVE: To evaluate speech and language outcomes in children with Auditory Neuropathy Spectrum Disorder (ANSD) without significant comorbidities who received hearing rehabilitation in the form of hearing aids and/or cochlear implantation. METHODS: Retrospective chart review of pediatric ANSD patients at a large academic tertiary care institution from 2010 to 2019. Patients were included if they received a diagnosis of bilateral ANSD, had minimal to no comorbidities, and had speech and language testing (SLT) on at least two occasions. RESULTS: 51 patients were reviewed and 7 met inclusion criteria. Average age at ANSD diagnosis was 1 year and 11 months, and average age of hearing aid fitting was 3 years and 3 months. Hearing loss ranged from mild to profound, with four of the children wearing behind (BTE) hearing aids and three eventually receiving cochlear implants. Four of five patients who received hearing aids prior to their first speech and language evaluation demonstrated a delay at their initial evaluation, and all five patients continued to demonstrate a delay at their most recent evaluation, despite appropriate audiologic management and speech and language therapy. There were two patients who were unaided at the time of their initial and latest evaluations; one patient showed a delay at both timepoints, and one patient showed no speech delay at either timepoint. CONCLUSIONS: Pediatric ANSD patients, who are otherwise typically developing and received hearing rehabilitation and speech and language therapy, continue to show a speech and language delay (SLD). This outcome underscores the importance of close monitoring of speech and language development, providing early amplification and/or cochlear implantation, and promoting additional education and psychosocial support.

[Auditory neuropathy and prematurity: modern view of the issue (literature review)]. / Auditornaya neiropatiya i nedonoshennost': sovremennyi vzglyad na problemu (obzor literatury).

Auditory neuropathy spectrum disorder (ANSD) is a specific auditory disorder caused by dysfunction of periphery part of the auditory system, in which the function of the outer hair cells is preserved, but the afferent input at the cochlear level suffers due to the pathology of the inner hair cells, neurons of the spiral ganglion and/or the auditory nerve, as well as synaptic contact between them. As a result, a specific condition is formed, in which a patient's otoacoustic emissions and/or cochlear microphonics are present, auditory brainstem responses are abnormal or absent, the discrepancy between the hearing level and the electrophysiological data, poor speech perception which may not correlate with the hearing thresholds. ANSD is a multifactorial disease. One of the main risk factors is perinatal pathology and, in particular, prematurity. The possible factors associated with prematurity that provoke the onset of the disease, features of the pathogenesis, clinical and audiological peculiarities of ANSD in premature infants, contemporary approaches to the habilitation of such patients are discussed in the article. The necessity of an individual, patient-oriented approach to the treatment of premature infants with ANSD is substantiated; such an approach should be based both on the genesis of the disorder, taking into account possible points of lesion in the auditory system, and the developmental peculiarities of a premature baby considering the presence of concomitant diseases associated with prematurity. In the article attention is focused on the main directions of habilitation work with such children, including a multidisciplinary approach, regular careful monitoring of the auditory, speech and language skills, intensive psychological and speech therapist support, the choice of an adequate way of intervention and its improvement as necessary.

[Electrically evoked ABR through cochlear implant in children with auditory neuropathy spectrum disorder]. / Registratsiya elektricheski vyzvannykh korotkolatentnykh slukhovykh potentsialov u detei s zabolevaniem spektra auditornykh neiropatii.

OBJECTIVE: To estimate the applicability of electrically evoked auditory brainstem response (eABR) registration for the estimation of neural integrity after cochlear implantation (CI) in children with auditory neuropathy spectrum disorder (ANSD) and to compare the eABR data with patient's hearing performance. MATERIAL AND METHODS: 4 children, Nucleus (Cochlear) CI users, with ANSD were enrolled in the study. Hearing performance in these children ranged from successful to unsatisfied. eABR were recorded via Eclipse EP25 (Interacoustics). Electrical bipolar stimulation was achieved with Custom Sound EP software (Cochlear). RESULTS: EABR were registered with the use of different stimulation parameters (pulse width, stimulated electrodes) in 3 patients with satisfactory results of rehabilitation. eABR thresholds corresponded to maximum comfortable levels of patients stimulation MAP. eABR were absent in the patient with poor hearing performance. CONCLUSIONS: EABR measurements in children with ANSD demonstrated restoration of neuronal conduction in the auditory pathway up to the brainstem after cochlear implantation in 3 patients. eABR results were well correlated with hearing performance. Thereby, the study of eABR applicability for clinical practice will be expanded.

Cochlear nerve deficiency is an important cause of auditory neuropathy spectrum disorder at a population level in children.

OBJECTIVES: To determine the incidence, prevalence and describe risk factors and etiology for childhood Auditory Neuropathy Spectrum Disorder using population level data from a statewide universal newborn hearing program. METHODS: A retrospective statewide universal newborn hearing screening database review and descriptive analysis from 2012 to 2019 of demographic, risk factors and hearing loss etiology for babies with sensorineural hearing loss and ANSD was completed. A 2 stage aABR protocol was used and ANSD was classified when click evoked ABR were absent or grossly abnormal but otoacoustic emissions and or cochlear microphonics were present. Medical evaluation and investigation by a pediatrician or otolaryngologist was performed and etiology was assigned using a coding scheme. Next generation genetic sequencing was not available. RESULTS: From 2012 to 2019, 487 636 babies were screened for congenital hearing loss (99.1%) and 1150 were confirmed to have permanent SNHL, 80 of whom were diagnosed with ANSD (52 unilateral and 28 bilateral). The prevalence of ANSD was 7.0% and population prevalence was 0.16 per 1000 live births. The only demographic or risk factor significantly more likely to be associated with ANSD than SNHL was hyperbilirubinemia. The most common etiology for ANSD was hypoplasia or absence of the cochlear nerve with 37 cases (46.3%), and it was significantly more likely with unilateral than bilateral ANSD. CONCLUSION: At a population level, ANSD was more likely to be unilateral and the only perinatal risk factor significantly associated was hyperbilirubinemia. Cochlear nerve deficiency was the most common etiology. Given that this can occur in well babies, this provides further evidence for aABR as a preferred mode for newborn hearing screening.

[The issue of auditory neuropathy: from origins to the present]. / Problema auditornoi (slukhovoi) neiropatii: ot istokov k sovremennosti.

The issue of auditory neuropathy spectrum disorders (ANSD) has been in a focus of specialists attention for a relatively short time, but during this time a huge amount of scientific and practical knowledge about this hearing disorder has been accumulated. ANSD is a specific auditory deficit caused by dysfunction of periphery part of the auditory system, which may affect the inner hair cells, the spiral ganglion neurons and the auditory nerve, as well as the area of synaptic contact between them, while the outer hair cells, as a rule, remain intact. As a result, a specific condition is formed, in which a patient's otoacoustic emissions and/or cochlear microphonics are present, auditory brainstem responses are abnormal or absent, electrophysiological data may not correlate with hearing level, the discrepancy between pure tone audiometry and speech discrimination is observed. ANSD prevalence, epidemiology, contemporary views on its etiology, including detailed information on hereditary forms of the disorder and its risk factors are considered in the review. The data on the basic rungs of the ANSD pathogenesis, which underlie the development of various forms of the disorder and mainly determine the rehabilitation approach, are presented. The detailed clinical and audiological characteristics of ANSD are presented; contemporary approach to ANSD diagnosis and rehabilitation, including indications for surgical treatment, are considered.