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.

Novel Pathogenic Variants in PJVK, the Gene Encoding Pejvakin, in Subjects with Autosomal Recessive Non-Syndromic Hearing Impairment and Auditory Neuropathy Spectrum Disorder.

Pathogenic variants in the PJVK gene cause the DFNB59 type of autosomal recessive non-syndromic hearing impairment (AR-NSHI). Phenotypes are not homogeneous, as a few subjects show auditory neuropathy spectrum disorder (ANSD), while others show cochlear hearing loss. The numbers of reported cases and pathogenic variants are still small to establish accurate genotype-phenotype correlations. We investigated a cohort of 77 Spanish familial cases of AR-NSHI, in whom DFNB1 had been excluded, and a cohort of 84 simplex cases with isolated ANSD in whom OTOF variants had been excluded. All seven exons and exon-intron boundaries of the PJVK gene were sequenced. We report three novel DFNB59 cases, one from the AR-NSHI cohort and two from the ANSD cohort, with stable, severe to profound NSHI. Two of the subjects received unilateral cochlear implantation, with apparent good outcomes. Our study expands the spectrum of PJVK mutations, as we report four novel pathogenic variants: p.Leu224Arg, p.His294Ilefs*43, p.His294Asp and p.Phe317Serfs*20. We review the reported cases of DFNB59, summarize the clinical features of this rare subtype of AR-NSHI and discuss the involvement of PJVK in ANSD.

Clinical characteristics of patients with unilateral auditory neuropathy.

OBJECTIVE: To analyze the clinical characteristics of patients with unilateral auditory neuropathy (UAN), and to provide guidance for future clinical diagnosis and research. METHODS: Patients who were clinically diagnosed with UAN from 2004 to 2019 were included. Clinical characteristics, audiological features, imaging findings, genetic test results and management effect were summarized and followed. RESULTS: A total of 44 patients [mean age, 4.35 ± 4.39 years; 22 (50.00%) males and 22 (50.00%) females] were enrolled for analyses. Among the 38 patients who were tested by pure-tone or behavioral audiometry, the degree of hearing loss of the affected ear was characterized as mild in 2 ears (5.26%), moderate in 5 (13.16%), severe in 9 (23.68%) and profound in 22 (57.89%). For the 44 contralateral ears, 33 (75.00%) showed normal hearing and 11 (25.00%) presented with sensorineural hearing loss. Auditory brainstem responses were absent or abnormal in all 44 affected ears, while otoacoustic emissions and/or cochlear microphonics were present. Among the 18 patients who underwent magnetic resonance imaging (MRI), 7 (38.89%) presented cochlear nerve deficiency (CND). Nineteen candidate variants were found in 12 patients among the 15 UAN patients who were conducted targeted gene capture and next generation sequencing. Thirty patients were followed up by telephone to investigate their management effect. CONCLUSIONS: Our study demonstrates comprehensive audiological features of patients with UAN to improve the clinical understanding and diagnosis. Some patients with UAN could show ipsilateral CND and MRI is essential to evaluate if the nerve is deficient. No pathogenic variants that directly related to the pathogenesis of UAN have been found in this study currently.

The limitation of risk factors as a means of prognostication in auditory neuropathy spectrum disorder of perinatal onset.

OBJECTIVE: The management of hearing loss due to auditory neuropathy spectrum disorder (ANSD) in neonates and infants is challenging because speech and language development prognosis cannot be directly inferred from early audiometric hearing thresholds. Consequently, appropriate intervention with hearing aids or cochlear implantation (CI) can be delayed. Our objective was to determine whether any features of patient history could be used to identify CI candidates with ANSD at an earlier age. METHOD: A database was maintained over 11 years to monitor cases of perinatal onset ANSD. Risk factors associated with the perinatal time period considered pertinent to hearing outcomes were assessed, including prematurity, birth weight, APGAR score, ototoxic drugs, and hyperbilirubinemia. Children with cochlear nerve aplasia and genetic mutations were excluded. Hearing outcome was determined according to mode of auditory rehabilitation beyond 30 months of age: A) no hearing device; B) hearing aid; C) CI. RESULTS: Of twenty-eight children with ANSD, nine (32%) had behavioural thresholds and language development sufficient to require no assistive device, 9 (32%) were fitted with hearing aids and 10 (36%) had CIs. The average age at CI (3.45 ± 2.07 years) was significantly older than the age at CI of other children in our program with prelingual hearing loss (2.05 ± 1.14 years; p = 0.01 Mann-Witney U Test). None of the putative risk factors for hearing loss reliably predicted the need for subsequent CI. CONCLUSION: The small sample size in this study is sufficient to confirm that clinical history alone does not reliably predict which young children with perinatal-onset ANSD will require CI. Consequently, timing for CI remains delayed in these children, potentially affecting speech and language outcome. The pathogenesis of perinatal-onset ANSD remains undetermined and novel means of assessment are required for prognostication in affected infants.

Vestibular dysfunction in patients with auditory neuropathy detected by vestibular evoked myogenic potentials.

OBJECTIVES: This study aimed to determine vestibular involvement in patients with auditory neuropathy (AN) using ocular vestibular evoked myogenic potential (oVEMP), cervical vestibular evoked myogenic potential (cVEMP), caloric tests, video Head Impulse Tests (vHIT), and Suppression Head Impulse Paradigm (SHIMP) tests. METHODS: Twenty-two patients with AN (study group) and 50 age-and-gender-matched healthy subjects (control group) were enrolled. All patients underwent air-conducted sound oVEMP and cVEMP tests. In the study group, 20 patients underwent a caloric test, 10 patients underwent a video Head Impulse Test (vHIT), and nine patients underwent the Suppression Head Impulse Paradigm (SHIMP) test. RESULTS: Significant differences in VEMP abnormalities were found between the two groups. Most AN patients showed no VEMP response, while only a few patients showed VEMP responses with normal parameters. Some AN patients presented abnormal VEMP parameters, including thresholds, latencies, and amplitudes. The abnormal rate (including no response and abnormal parameters) was 91% in the cVEMP test and 86% in the oVEMP test. No significant difference was found between oVEMP and cVEMP abnormalities. AN patients exhibited a 70% abnormal rate in the caloric test. Most AN patients showed normal VOR gains. Most patients showed no overt corrective saccades in vHIT, and exhibited normal anticompensatory saccades in the SHIMP test. CONCLUSION: Many AN patients experience vestibular dysfunction, which may be detected by using a vestibular functional test battery. SIGNIFICANCE: VEMP abnormalities might reflect the status and degree of vestibular involvement in AN.

The characteristics of monosyllable recognition in Mandarin-speaking patients with auditory neuropathy.

Background: A set of Chinese Mandarin monosyllable test lists has been widely used in clinical diagnosis, while the performance of the Mandarin-speaking patients with auditory neuropathy (AN) in the monosyllable tests was still unknown.Objectives: To analyze the characteristics of monosyllable recognition in Mandarin-speaking patients with AN.Materials and methods: Nineteen Mandarin-speaking patients diagnosed with AN were recruited to obtain the performance-intensity (P-I) functions. They were divided into two paired groups according to two conditions: (1) the rising-slope (RS) and the non-rising-slope pattern (NRS) group for the audiogram; or (2) the male and the female group for gender.Results: The performance at 20 and 30 dB SL showed negative correlation with the pure tone-averaged thresholds of 0.5, 1.0, 2.0 and 4.0 kHz (4FA). We found significant differences between the P-I functions of the RS and the NRS group, and surprisingly found that between the male and female as well although there was no difference in 4FA between the paired groups. A notable rollover phenomenon in P-I functions was detected in each group.Conclusions: The monosyllable recognition scores of Mandarin-speaking AN patients showed numerous particular characteristics reflected by P-I functions. Acquiring the complete P-I functions at multiple presentation levels and the rollover index may give us more information about the diagnosis and prognosis.

Autosomal dominant optic atrophy with OPA1 gene mutations accompanied by auditory neuropathy and other systemic complications in a Japanese cohort.

Purpose: This study aimed to describe the genetic and clinical characteristics of four Japanese patients with autosomal dominant optic atrophy (DOA) accompanied by auditory neuropathy and other systemic complications (i.e., DOA-plus disease). Methods: Four patients from four independent families underwent comprehensive ophthalmic and auditory examinations and were diagnosed with DOA-plus disease. The disease-causing gene variants in the OPA1 gene were identified by direct sequencing. The genetic and clinical data of 48 DOA patients without systemic complications-that is, with simple DOA-were compared to those of DOA-plus patients. Results: DOA-plus patients noticed a decrease in vision before the age of 14 and hearing impairment 3 to 13 years after the development of visual symptoms. Two patients had progressive external ophthalmoplegia, and one patient had vestibular dysfunction and ataxia. The DOA-plus phenotypes accounted for 13.3% (4/30) of the families with the OPA1 gene mutations. Each DOA-plus patient harbored one of the monoallelic mutations in the OPA1 gene: c.1334G>A, p.R445H, c.1618A>C, p.T540P, and c.892A>C, p.S298R. Missense mutations accounted for 100% (4/4) of the DOA-plus families and only 11.5% (3/26) of the families with simple DOA. Conclusions: All the patients with the DOA-plus phenotype carried one of the missense mutations in the OPA1 gene. They all had typical ocular symptoms and signs of DOA in their first or second decade, and other systemic complications-such as auditory neuropathy, vestibular dysfunction, and ataxia-followed the ocular symptoms. We should consider the occurrence of extraocular complications in cases with DOA, especially when they carry the missense mutations in the OPA1 gene.

Multiple exemplar instruction and integration of listening and speaking behaviors with substantive-adjective syntactic units in children with ANSD and CI. / Ensino por múltiplos exemplares e integração de comportamentos de ouvinte e falante com unidades sintáticas substantivo-adjetivo em crianças com DENA e IC.

PURPOSE: To verify the effect of the multiple exemplar instruction at the acquisition and integration of listening and speaking behaviors, with substantives and substantive-adjective combinations, in children with Auditory Neuropathy Spectrum Disorder (ANSD) and cochlear implant (CI). METHODS: Participants were two children with ANSD that were users of CI. We adopted dictated stimulus and pictures that corresponded to words (substantive) and substantive-adjective syntactic units. The study was arranged in teaching steps that were intercalated with listening and speaking behaviors probes, with all stimuli. The multiple exemplar instruction presented oral imitation (echoic), auditory recognition (listening) and pictures naming (touch) tasks, on a rotating way; the substantives were taught first and, after that, the substantive-adjective combinations. RESULTS: In the pre-test, the participants showed variability and discrepancy in the correct responses percentages of listening and speaking. All achieved firstly 100% correct responses in the listening task and the speaking performances were close to listening after the teaching. All extended substantive learning to substantive-adjective syntactic units. CONCLUSION: Children with ANSD and CI can learn and integrate listening and speaking behaviors by multiple exemplar instruction, from words to syntactic units.

OBJETIVO: Verificar o efeito do ensino por múltiplos exemplares na aquisição e integração dos comportamentos de ouvinte e falante, com substantivos e combinações substantivo-adjetivo, em crianças com Desordem do Espectro da Neuropatia Auditiva (DENA) e implante coclear (IC). MÉTODO: Participaram duas crianças com DENA que usavam IC. Foram adotados estímulos ditados e figuras que correspondiam a palavras (substantivo) e unidades sintáticas substantivo+adjetivo. O estudo foi organizado em passos de ensino que foram intercalados por avaliações dos comportamentos de ouvinte e falante, com todos os estímulos. O ensino por múltiplos exemplares apresentou tarefas de imitação oral (ecoico), reconhecimento auditivo (ouvinte) e nomeação de figuras (tato) de maneira rotativa; os substantivos foram ensinados primeiro e, em seguida, as combinações substantivo-adjetivo. RESULTADOS: No pré-teste, os participantes mostraram variabilidade e discrepância nas porcentagens de acertos de ouvinte e de falante. Todos alcançaram primeiro 100% de acertos nas tarefas de ouvinte e os desempenhos de falante ficaram próximos aos de ouvinte após o ensino. Todos estenderam a aprendizagem dos substantivos para as unidades sintáticas substantivo-adjetivo. CONCLUSÃO: Crianças com DENA e IC podem aprender e integrar comportamentos de ouvinte e de falante por meio do ensino por múltiplos exemplares, de palavras a unidades sintáticas.

Ensino por múltiplos exemplares e integração de comportamentos de ouvinte e falante com unidades sintáticas substantivo-adjetivo em crianças com DENA e IC / Multiple exemplar instruction and integration of listening and speaking behaviors with substantive-adjective syntactic units in children with ANSD and CI

RESUMO Objetivo Verificar o efeito do ensino por múltiplos exemplares na aquisição e integração dos comportamentos de ouvinte e falante, com substantivos e combinações substantivo-adjetivo, em crianças com Desordem do Espectro da Neuropatia Auditiva (DENA) e implante coclear (IC). Método Participaram duas crianças com DENA que usavam IC. Foram adotados estímulos ditados e figuras que correspondiam a palavras (substantivo) e unidades sintáticas substantivo+adjetivo. O estudo foi organizado em passos de ensino que foram intercalados por avaliações dos comportamentos de ouvinte e falante, com todos os estímulos. O ensino por múltiplos exemplares apresentou tarefas de imitação oral (ecoico), reconhecimento auditivo (ouvinte) e nomeação de figuras (tato) de maneira rotativa; os substantivos foram ensinados primeiro e, em seguida, as combinações substantivo-adjetivo. Resultados No pré-teste, os participantes mostraram variabilidade e discrepância nas porcentagens de acertos de ouvinte e de falante. Todos alcançaram primeiro 100% de acertos nas tarefas de ouvinte e os desempenhos de falante ficaram próximos aos de ouvinte após o ensino. Todos estenderam a aprendizagem dos substantivos para as unidades sintáticas substantivo-adjetivo. Conclusão Crianças com DENA e IC podem aprender e integrar comportamentos de ouvinte e de falante por meio do ensino por múltiplos exemplares, de palavras a unidades sintáticas.

ABSTRACT Purpose To verify the effect of the multiple exemplar instruction at the acquisition and integration of listening and speaking behaviors, with substantives and substantive-adjective combinations, in children with Auditory Neuropathy Spectrum Disorder (ANSD) and cochlear implant (CI). Methods Participants were two children with ANSD that were users of CI. We adopted dictated stimulus and pictures that corresponded to words (substantive) and substantive-adjective syntactic units. The study was arranged in teaching steps that were intercalated with listening and speaking behaviors probes, with all stimuli. The multiple exemplar instruction presented oral imitation (echoic), auditory recognition (listening) and pictures naming (touch) tasks, on a rotating way; the substantives were taught first and, after that, the substantive-adjective combinations. Results In the pre-test, the participants showed variability and discrepancy in the correct responses percentages of listening and speaking. All achieved firstly 100% correct responses in the listening task and the speaking performances were close to listening after the teaching. All extended substantive learning to substantive-adjective syntactic units. Conclusion Children with ANSD and CI can learn and integrate listening and speaking behaviors by multiple exemplar instruction, from words to syntactic units.

[Auditory evoked potentials in children with auditory neuropathy spectrum disorder]. / Slukhovye vyzvannye potentsialy u detei s zabolevaniem spektra auditornykh neiropatii.

The objective of the present study was to estimate peculiarities of the auditory brainstem evoked potentials (ABR), auditory steady-state responses (ASSR) and cortical auditory evoked potentials (CAEP) in the children presenting with bilateral auditory neuropathy spectrum disorder (ANSD). The study included 100 patients with bilateral ANSD diagnosed based on the positive response of otoacoustic emissions (OAEs) and/or cochlear microphonic (CM) detection, while no synchronous neural activity was detected in the ABR test. Cochlear microphonic was the main clue for the ANSD diagnosing, because OAE was absent in both ears of 49 children. ABR testing revealed no response bilaterally in 72 cases (out of 100). In contrast to ABR, the ASSR thresholds were detectable at all the four main frequencies in both ears in 73 % of the cases (47 out of the 64 tested ones). Both ABR and ASSR in most cases were incomparable with the behavioral audiometric thresholds. 28 children underwent CAEP testing. In 7 cases out of 8 with mild hearing loss detectable CAEP were recorded. CAEP registration in l7 children making use of the hearing aids and in 3 children after cochlear implantation revealed, in the majority of the cases, the concordance between CAEP detectability with behavioral thresholds and rehabilitation outcomes with fairly good speech intelligibility. It is concluded that the ABR registration with CM evaluation is the most informative test for ANSD diagnosis. However, ABR as well as ASSR is useless for the estimation of the behavioral thresholds. The results of this study suggest that the presence or absence of CAEPs can provide some indication of the audibility of a speech sound in the children with ANSD; however this method requires further investigation.

Evaluation of Hearing Handicap in Adults with Auditory Neuropathy Spectrum Disorder.

OBJECTIVE: The present study attempted to evaluate hearing handicap in adults with auditory neuropathy spectrum disorder (ANSD). The study also attempted to determine if gender, pure tone average, speech identification scores (SIS), and reported duration of hearing loss could predict the hearing handicap in adults with ANSD. MATERIALS AND METHODS: Hearing Handicap Inventory for Adults and Hearing Handicap Questionnaire were administered to 50 adults with ANSD. RESULTS: Using both the scales, there was a significant hearing handicap in both the social and emotional domains in adults with ANSD. SIS was a good predictor of hearing handicap compared to other variables. The poor SIS can affect communication skills leading to higher degree of social handicap. CONCLUSION: The ignorance regarding the exact cause for their hearing problems and lack of appropriate management strategies could lead to emotional problems in individuals with ANSD. However, further studies are essential for determining hearing handicap with the use of hearing aids and cochlear implants.

A novel missense mutation in the C2C domain of otoferlin causes profound hearing impairment in an Omani family with auditory neuropathy.

OBJECTIVES: To identify genetic defects in an Omani family diagnosed with deafness.  METHODS: A cross-sectional association study was conducted at the Department of Biochemistry, College of Medicine and Health Sciences, Sultan Qaboos University, Al-Khoud, Oman and the Centre of Medical Genetics, University of Antwerp, Antwerp, Belgium between August 2010 and September 2014. Microsatellites markers for nine non-syndromic genes were used to genotype the defective locus using the extracted DNA from family members. Sanger sequencing method was used to identify the disease causative mutation. Eazy linkage 5.05 was used to calculate the logarithm of odds score. Lasergene suite was used to detect the mutation position, and Phyre2, SMART, Rasmol, and GOR IV were used to predict the effects of the defect on protein structure and function.  RESULTS: The disease was linked to markers located on chromosome-2 and covering the OTOF (DFNB9) gene. A novel missense mutation that changed nucleotide C to G at position c.1469 and consequently the amino acid Proline to Arginine (P490R) on exon 15 was detected. Protein modeling analysis revealed the impact of the mutation on protein structure and the relevant C2C domain. The mutation seems to create a new protein isoform homologous to the complement component C1q.  CONCLUSION: These findings suggest that the mutation found in C2C domain of the OTOF gene is likely to cause deafness in the studied family reflecting the importance of C2 domains of otoferlin in hearing loss.

Unbound Bilirubin and Auditory Neuropathy Spectrum Disorder in Late Preterm and Term Infants with Severe Jaundice.

OBJECTIVE: This study evaluates whether unbound bilirubin is a better predictor of auditory neuropathy spectrum disorder (ANSD) than total serum bilirubin (TSB) or the bilirubin:albumin molar ratio (BAMR) in late preterm and term neonates with severe jaundice (TSB ≥20 mg/dL or TSB that met exchange transfusion criteria). STUDY DESIGN: Infants ≥34 weeks' gestation with severe jaundice during the first 2 weeks of life were eligible for the prospective observational study. A comprehensive auditory evaluation was performed within 72 hours of peak TSB. ANSD was defined as absent or abnormal auditory brainstem evoked response waveform morphology at 80-decibel click intensity in the presence of normal outer hair cell function. TSB, serum albumin, and unbound bilirubin were measured using the colorimetric, bromocresol green, and modified peroxidase method, respectively. RESULTS: Five of 44 infants developed ANSD. By logistic regression, peak unbound bilirubin but not peak TSB or peak BAMR was associated with ANSD (OR, 4.6; 95% CI, 1.6-13.5; P = .002). On comparing receiver operating characteristic curves, the area under the curve for unbound bilirubin (0.92) was significantly greater (P = .04) compared with the area under the curve for TSB (0.50) or BAMR (0.62). CONCLUSIONS: Unbound bilirubin is a more sensitive and specific predictor of ANSD than TSB or BAMR in late preterm and term infants with severe jaundice.

Auditory neuropathy in Brown-Vialetto-Van Laere syndrome due to riboflavin transporter RFVT2 deficiency.

AIM: Mutations in the genes encoding the riboflavin transporters RFVT2 and RFVT3 have been identified in Brown-Vialetto-Van Laere syndrome, a neurodegenerative disorder characterized by hearing loss and pontobulbar palsy. Treatment with riboflavin has been shown to benefit individuals with the phenotype of RFVT2 deficiency. Understanding the characteristics of hearing loss in riboflavin transporter deficiency would enable early diagnosis and therapy. METHOD: We performed hearing assessments in seven children (from four families) with RFVT2 deficiency and reviewed results from previous assessments. Assessments were repeated after 12 months and 24 months of riboflavin therapy and after cochlear implantation in one individual. RESULTS: Hearing loss in these individuals was due to auditory neuropathy spectrum disorder (ANSD). Hearing loss was identified between 3 years and 8 years of age and progressed rapidly. Hearing aids were not beneficial. Riboflavin therapy resulted in improvement of hearing thresholds during the first year of treatment in those with recent-onset hearing loss. Cochlear implantation resulted in a significant improvement in speech perception in one individual. INTERPRETATION: Riboflavin transporter deficiency should be considered in all children presenting with an auditory neuropathy. Speech perception in children with ANSD due to RFVT2 deficiency may be significantly improved by cochlear implantation.

Additional difficulties associated with aetiologies of deafness: outcomes from a parent questionnaire of 540 children using cochlear implants.

AIM: To update our clinical records of additional difficulties and significant health issues of children receiving cochlear implants (CIs) at the Nottingham Auditory Implant Programme, to investigate possible trends in cohorts of children with the same aetiology of deafness, and to discuss clinical implications. METHOD: A written postal questionnaire was sent to parents/carers of 590 children asking if their child had been diagnosed with specified additional difficulties and any significant health issues likely to impact on their child's listening and language development. Responses to these questionnaires were collated and the data reviewed. RESULTS: Of the 91.5% questionnaires returned, the percentage of children with additional difficulties was found to be 47%. The numbers of CI recipients with three or more additional difficulties in this group were found to be 11%. The distribution of additional difficulties within cohorts of CI recipients with the same aetiology was examined, and trends were identified. Those deafened by cytomegalovirus or meningitis and those with auditory neuropathy spectrum disorder were found to have the greatest number of co-existing additional difficulties including epilepsy and autism, while those with an aetiology of Connexin 26 had almost no additional difficulties. CONCLUSION: It is hoped that the information obtained will (i) inform the counselling of parents pre-implant, particularly with children whose aetiology means that there is a high risk of additional difficulties, and (ii) improve CI recipient care. The results suggest that children with severe-profound sensorineural deafness have more additional difficulties than has been previously cited.

Saccular dysfunction in children with sensorineural hearing loss and auditory neuropathy/auditory dys-synchrony.

CONCLUSION: There is a correlation between the AN/AD disorder and the saccular dysfunction in children with severe sensorineural hearing loss, which means that saccular dysfunction can be a concomitant sign of AN/AD. In conclusion, the term of audio-vestibular dys-synchrony (AVS) is a more suitable description for this condition. OBJECTIVES: Patients with auditory neuropathy/auditory dys-synchrony (AN/AD) characteristically demonstrate poor neural responses from the vestibulocochlear nerve and brainstem while displaying evidence of intact outer hair cells function. Therefore, the objective of this study is studying of the relationship of the saccular dysfunction with AN/AD disorder in children with sensorineural hearing loss. METHODS: In this cross-sectional study, 100 children with bilateral severe-to-profound sensorineural hearing losses underwent audiologic tests and cervical vestibular-evoked myogenic potentials (cVEMPs) at the Audiology Department of Hamadan University of Medical Sciences (Hamadan, Iran). RESULTS: Eleven children with bilateral severe sensorineural hearing loss were given to unilateral AN/AD disorder (11 ears), and two children (4 ears) had bilateral AN/AD (total = 13 children). The ears with AN/AD took the form of unrepeatable or absent waves of ABR and presence of OAEs. The statistical analysis of an independent t-test between AN/AD ears as compared to non-AN/AD ears of these 13 children showed that the mean latencies of p13 and the mean latencies of n23 and the mean peak-to-peak amplitude had significant differences.

Deafness in cochlear and auditory nerve disorders.

Sensorineural hearing loss is the most common type of hearing impairment worldwide. It arises as a consequence of damage to the cochlea or auditory nerve, and several structures are often affected simultaneously. There are many causes, including genetic mutations affecting the structures of the inner ear, and environmental insults such as noise, ototoxic substances, and hypoxia. The prevalence increases dramatically with age. Clinical diagnosis is most commonly accomplished by measuring detection thresholds and comparing these to normative values to determine the degree of hearing loss. In addition to causing insensitivity to weak sounds, sensorineural hearing loss has a number of adverse perceptual consequences, including loudness recruitment, poor perception of pitch and auditory space, and difficulty understanding speech, particularly in the presence of background noise. The condition is usually incurable; treatment focuses on restoring the audibility of sounds made inaudible by hearing loss using either hearing aids or cochlear implants.

Performance of hearing skills in children with auditory neuropathy spectrum disorder using cochlear implant: a systematic review, / Resultados do desempenho das habilidades auditivas em crianças com o espectro da neuropatia auditiva usuárias de implante coclear: revisão sistemática

Introduction: Currently, there are no doubts about the benefits of cochlear implants for the development of children with severe or profound hearing loss. However, there is still no consensus among researchers and professionals regarding the benefits for the improvement of hearing skills in children with auditory neuropathy spectrum disorder using cochlear implants. Objective: Review the available evidence in the literature to answer the following: "What is the performance of hearing skills in children with auditory neuropathy spectrum disorder using cochlear implants?" Methods: Systematic review of the literature through electronic database consultation, considering publications in the period 2002-2013. Results: Twenty-two studies met the criteria and were included in the systematic review. Conclusion: The analyzed studies demonstrated that after cochlear implant surgery, individuals with auditory neuropathy spectrum disorder improved their performance of hearing skills and had similar performance to that of children with sensorineural hearing loss using cochlear implant. .

Introdução: Atualmente não restam dúvidas quanto aos benefícios do uso do implante coclear no desenvolvimento da população infantil com perda auditiva de grau severo e/ou profundo. Entretanto, ainda não há um consenso entre pesquisadores e profissionais sobre os seus benefícios para a melhora das habilidades auditivas em crianças com o espectro da neuropatia auditiva usuárias de implante coclear. Objetivo: Revisar a evidência disponível na literatura para responder ao questionamento: "Quais os resultados do desempenho das habilidades auditivas em crianças com o espectro da neuropatia auditiva usuárias de implante coclear?" Método: Revisão sistemática da literatura, a partir da consulta de bases de dados eletrônicas, considerando publicações no período de 2002 a 2013. Resultados: Vinte e dois estudos contemplaram os critérios e foram incluídos na revisão sistemática. Conclusão: Os estudos analisados demonstraram que, após a cirurgia de IC, os indivíduos como espectro da neuropatia auditiva melhoraram o desempenho das habilidades auditivas e apresentaram desempenho semelhante ao de crianças com perda auditiva sensorioneural usuárias de implante coclear. .

Performance of hearing skills in children with auditory neuropathy spectrum disorder using cochlear implant: a systematic review.

INTRODUCTION: Currently, there are no doubts about the benefits of cochlear implants for the development of children with severe or profound hearing loss. However, there is still no consensus among researchers and professionals regarding the benefits for the improvement of hearing skills in children with auditory neuropathy spectrum disorder using cochlear implants. OBJECTIVE: Review the available evidence in the literature to answer the following: "What is the performance of hearing skills in children with auditory neuropathy spectrum disorder using cochlear implants?" METHODS: Systematic review of the literature through electronic database consultation, considering publications in the period 2002-2013. RESULTS: Twenty-two studies met the criteria and were included in the systematic review. CONCLUSION: The analyzed studies demonstrated that after cochlear implant surgery, individuals with auditory neuropathy spectrum disorder improved their performance of hearing skills and had similar performance to that of children with sensorineural hearing loss using cochlear implant.

Cervical vestibular evoked myogenic potentials and caloric test results in individuals with auditory neuropathy spectrum disorders.

Auditory neuropathy spectrum disorder is a type of hearing loss where outer hair cell function are normal (as evidenced by the preservation of OAEs and cochlear microphonics), whereas auditory nerve functions are abnormal (as evidenced by abnormal auditory brainstem evoked potentials beginning with wave I of the ABR) and acoustic reflexes to ipsilateral and contralateral tones are absent. It is likely that in cases with auditory neuropathy spectrum disorder not only the cochlear nerve, but also the vestibular nerves might get involved. The present study was conducted with an aim of finding out the inferior and superior vestibular nerve involvement through cervical vestibular evoked myogenic potentials and Caloric test results respectively in individuals with Auditory Neuropathy Spectrum Disorders. Total 26 participants who fulfilled the criteria of auditory neuropathy spectrum disorder participated for the study. Vestibular evoked myogenic potentials results showed absence of responses from most of the subjects also caloric responses showed bilateral hypofunctional responses in most of the participants, which is suggestive of involvement of both the inferior as well as superior vestibular nerve in individuals with auditory neuropathy spectrum disorders. Additionally there was no association between the pattern and degree of hearing loss to caloric test results and vestibular evoked myogenic potentials results findings.