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.

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.

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.

Clinical features of rapidly progressive bilateral sensorineural hearing loss.

CONCLUSION: Rapidly progressive bilateral sensorineural hearing loss (SNHL) often develops as a symptom of intracranial diseases or systemic vasculitis. For early diagnosis and treatment of these potentially fatal diseases, a history of hearing deterioration within 2 months and associated symptoms may be important. OBJECTIVES: To reveal clinical features and causative diseases for rapidly progressive bilateral SNHL. METHODS: The inclusion criterion was patients with bilateral progressive SNHL, who had experienced difficulty in daily conversation within 4 days to 1 year after the onset of hearing loss awareness. This study was a retrospective evaluation of 12 patients with rapidly progressive bilateral SNHL who visited our hospital between 2007 and 2011. RESULTS: The causative disease for hearing loss was identified in 11 of 12 patients; intracranial lesions including nonbacterial meningitis, meningeal metastasis of lymphoma, and superficial siderosis in 4 patients, systemic vasculitis in 2, auditory neuropathy spectrum disorder in 1, and an isolated inner ear disorder in 4. Relatively rapid hearing deterioration within 2 months showed a significant association in six patients with an intracranial lesion or systemic vasculitis. Moreover, all these six patients complained of dizziness and/or non-cochleovestibular symptoms such as fever, headache, and/or altered mental state in addition to hearing loss.

[Analysis of characteristics of tinnitus in patients with auditory neuropathy spectrum disorder].

OBJECTIVE: To investigate the characteristics of tinnitus in patients with auditory neuropathy spec- trum disorder (ANSD). METHOD: This study recruited 14 ANSD patients with tinnitus. All the ANSD patients un- derwent detailed history taking, audiological examinations and assessments of tinnitus. This study analyzed the correlation of tinnitus status and hearing loss, and discussed the effects of sex, age, and the course of disease on tinnitus in ANSD patients. RESULT: (1) In the ANSD patients, tinnitus often occurred in 3 years after the onset of hearing loss; (2) Tinnitus was highly prevalent in ANSD patients, and the severity of tinnitus was mostly from mild to moderate; (3) There was no obvious correlation between the subjective grading of tinnitus and hearing loss de- gree, and the impact of curve patterns of hearing loss on the level of tinnitus need much more evidence-based proof; (4) Along with the course extension, the impact of tinnitus on the quality of life was much more obvious; (5) Some risk factors such as noise exposure could be the reasons of aggravating the degree of tinnitus. CONCLUSION: Tinnitus in ANSD patients has its unique clinical features. The study of Tinnitus in ANSD patients can provide clinical basis for further research in ANSD.

Prevalência do espectro da neuropatia auditiva em um serviço de saúde auditiva / Prevalence of auditory neuropathy spectrum disorder in an auditory health care service

Oespectro da neuropatia auditiva (ENA) caracteriza-se pelo acometimento do nervo auditivo, associado à preservação da função das células ciliadas externas cocleares. OBJETIVO: Determinar a prevalência do ENA em sujeitos com perda auditiva neurossensorial (PANS). MÉTODO: Estudo retrospectivo realizado de 2010 a 2012, pela análise dos prontuários de 2.292 sujeitos com PANS. Foram coletados dados das avaliações otorrinolaringológica e audiológica, por meio da audiometria tonal e vocal, imitanciometria, Emissões Otoacústicas (EOAs) e Potencial Evocado Auditivo de Tronco Encefálico (PEATE). Critérios de inclusão: presença das EOAs e/ou Microfonismo Coclear (MC); ausência ou alterações nas ondas do (PEATE) e ressonância nuclear magnética cerebral normal. RESULTADOS: Entre os 2.292 sujeitos com PANS, 27 (1,2%) apresentaram ENA, sendo 37% masculino e 63% feminino. Entre os sujeitos com ENA, 29,6% tinham PANS leve; 55,5% moderada; 7,4% grave e 7,5% profunda. Em relação à faixa etária, 14,8% estavam entre 0 e 20 anos, 33,4% entre 21 e 40 anos, 44,4% entre 41 e 60 anos e 7,4% acima de 60 anos. CONCLUSÃO: A prevalência do ENA neste estudo foi de 1,2% em sujeitos com PANS.

Auditory neuropathy spectrum disorder (ANSD) is characterized by impairment of the auditory nerve associated with preservation of outer hair cell function. OBJECTIVE: To establish the prevalence of ANSD in subjects with sensorineural hearing loss (SNHL). METHOD: This retrospective study was carried out between 2010 and 2012 and included the charts of 2,292 individuals with SNHL. Data from otolaryngological and audiological examinations based on pure-tone and speech audiometry, impedance tests, otoacoustic emissions (OAEs), and brainstem auditory evoked potentials (BAEPs) were collected. Inclusion criteria: presence of OAEs and/or cochlear microphonic (CM); absent or altered BAEPs, and normal MRI scans of the brain. RESULTS: Twenty-seven (1.2%) of the 2,292 subjects with SNHL had ANSD (37% males; 63% females). Mild SNHL was seen in 29.6% of the individuals with ANSD; 55.5% had moderate SNHL; 7.4% had severe SNHL; and 7.5% had profound SNHL. In terms of age, 14.8% were aged between zero and 20 years, 44.1% were 41 to 60 years old, and 7.4% were above the age of 60. CONCLUSION: ANSD was seen in 1.2% of the individuals with SNHL included in this study.

Hearing loss, auditory neuropathy, and neurological co-morbidity in children with birthweight <750 g.

BACKGROUND AND AIMS: The current literature considers a birthweight <1,500 g as a risk factor for sensorineural hearing loss (SNHL, hearing threshold >25 decibels), auditory neuropathy (AN), and several neurological sequelae. The aim of the study was to determine the frequency and risk factors associated with SNHL, AN, and neurological morbidity in a group of children with birthweights of <750 g treated at a neonatal care unit and recruited into a long-term follow-up program. METHODS: A case-control study was carried out. Inclusion criteria were birthweight <750 g and born between the years 2000 and 2010. We performed brainstem auditory-evoked potentials (BAEP), evoked otoacoustic emissions (EOAE) and free-field audiometry (FFA) in this population. Neonatal variables and procedures were compared between children with SNHL and children with normal bilateral hearing (NBH). RESULTS: A total of 93 children with a mean age of 4 years were included in the follow-up. Six children (6.4%) had SNHL and 87 had NBH. We were unable to identify AN in the sample. Mean weight for this sample was 673 ± 68 g and gestational age 27.5 ± 2 weeks. Variables reflecting differences between groups included days under mechanical ventilation, furosemide treatment, and bronchopulmonary dysplasia. In the SNHL group, three patients had periventricular leukomalacia, two had hydrocephalus, and one patient had cerebral palsy. CONCLUSIONS: Frequency of SNHL in children with birthweights <750 g was higher than in other premature infants and was related with mechanical ventilation, furosemide application, and bronchopulmonary dysplasia. Association with other neurological morbidities was frequent. Early diagnosis and intervention are required.

A case of locked-in syndrome complicated by central deafness.

BACKGROUND: A 53-year-old male with a history of hypertension, diabetes mellitus, and factor V deficiency presented to an emergency room with progressively increasing headache, slurred speech, and left upper extremity weakness. Over the previous 3 months, he had been receiving warfarin for prophylaxis of deep venous thrombosis following knee surgery. After presentation and an initial period of coma, he became tetraplegic and anarthric, requiring intubation and ventilatory assistance. INVESTIGATIONS: Neurological examination, CT scan, electroencephalogram, brainstem auditory and visual evoked potential studies, neuropsychological assessment and functional MRI studies. DIAGNOSIS: Locked-in syndrome following ventral pontine hemorrhage, complicated by central deafness secondary to extension of the lesion to the inferior colliculus. MANAGEMENT: Development of an augmentative communication system designed to exploit the patient's preserved cognitive and motor functions.

First auditory brainstem implantation in Poland: auditory perception results over 12 months.

Auditory brainstem implants (ABIs) are a modern method of treatment of total bilateral deafness in cases of extracochlear origin. In most cases therapy is applied in patients with neurofibromatosis type 2 (NF2). This paper presents the results of surgical treatment and rehabilitation in a 28-year-old woman with bilateral, multiple tumours of the central nervous system causing total deafness. Simultaneous removal of the tumours and implantation of ABI allowed treatment of the potentially lethal pathology and hearing restoration. Improving auditory skills and excellent tests results were noted in the year following implantation.

Multichannel auditory brainstem implant: US clinical trial results.

Since 1994, a US Food and Drug Administration clinical trial evaluated the multichannel auditory brainstem implant (ABI) on 92 subjects with neurofibromatosis type 2 (NF2). The trial has shown that 85 per cent of patients receive auditory sensations. A small number of patients demonstrate a clinically significant degree of open-set sentence recognition in the sound-alone condition; however, when the ABI is combined with lip-reading cues, 93 per cent of patients demonstrate improved sentence understanding at three to six months. In addition, the majority of recipients report daily use of their devices, and satisfaction with the decision to receive the ABI.

Multichannel auditory brainstem implantation: the Australian experience.

The multichannel auditory brainstem implant (ABI) provides the potential for hearing restoration in patients with neurofibromatosis type 2 (NF2). Programmes for auditory brainstem implantation have been established in two Australian centres. Eight patients have been implanted under the protocol of an international multi-centre clinical trial. Three patients had ABI insertion at the time of first side tumour removal, four at second side tumour removal and one after previous bilateral surgery where there was some residual tumour. The translabyrinthine approach was used in all cases. Successful positioning of the electrode array was achieved in seven of eight patients, all of whom achieved auditory perception with electrical stimulation. Intra-operative electrically evoked auditory brainstem response testing was successful in four patients and was useful in confirming correct electrode position. In six cases post-operative psychophysical and auditory perception testing demonstrated that useful auditory sensations were achieved. Five of these patients regularly used the implant. In one patient electrode placement was unsuccessful and only non-auditory sensations occurred on stimulation. In the remaining patients non-auditory sensations were minimal and avoidable by selective electrode programming. Auditory brainstem implantation should be considered in patients with NF2. The greatest benefit is seen in patients without debilitating disease who have non-aidable hearing in the contralateral ear.

First auditory brainstem implant in the Czech Republic.

In the Czech Republic, the first implantation of a stimulation electrode into the brainstem was performed on 11 January 1999 in the Department of ORL, Head and Neck Surgery, The First Medical Faculty, Charles University in Prague, University Hospital Motol. The selected patient was a 40-year-old woman with neurofibromatosis type 2 (NF2) who had previously undergone bilateral vestibular schwannoma surgery. Both tumours had been radically removed, the left-sided tumour in 1987, the right-sided one in 1988. She had been completely deaf since the last operation, i.e., for 11 years. The surgery was realized by the international cooperation of three teams. Placement of the electrode pad of the Nucleus CI21 + 1M system on the ventral and dorsal cochlear nuclei was performed. Electrically evoked auditory brainstem responses (EABRs) proved the correct position of the electrode array. The post-operative course was uneventful. Six weeks after the surgery the patient received her speech processor. Since that time, the patient already absolved several sessions of a speech processor tune-up. She uses the device as an aid in lip-reading. No adverse or pathological side effects have been observed. The patient was the 45th person in Europe to receive an ABI and the first in the Czech Republic.

Central auditory dysfunction, cognitive dysfunction, and dementia in older people.

OBJECTIVES: To determine in older people the relation between auditory dysfunction and cognitive dysfunction, and if central auditory test abnormalities predict the onset of clinical dementia or cognitive decline. DESIGN: Prospective population-based cohort study. SETTING: Framingham Heart Study outpatient biennial examinations 18 and 21. PARTICIPANTS: Members of the Framingham Heart Study cohort with normal findings from cognitive screening tests at biennial examination 18. MEASUREMENTS: Peripheral audiometric thresholds and word recognition in quiet; Synthetic Sentence Identification with Ipsilateral Competing Message (SSI-ICM); Mini-Mental State Examination; and detailed neuropsychological testing of subjects with abnormal findings from the Mini-Mental State Examination. Relative risk of dementia was determined using age-adjusted Cox proportional hazards regression models. RESULTS: Hearing loss significantly lowered performance on the verbal parts of the Mini-Mental State Examination. The relative risk of subsequent clinical dementia or cognitive decline was 6 in subjects with very poor scores (< 50%) in one ear on the SSI-ICM (P = .02); the relative risk was 12.5 if the poor scores were present in both ears (P = .001). CONCLUSIONS: Central auditory dysfunction precedes senile dementia in a significant number of cases and may be an early marker for senile dementia. Hearing tests should be included in the evaluation of persons older than 60 years and in those suspected of having cognitive dysfunction.

Hearing loss in brainstem disorders.

A retrospective study of 309 unselected patients with brainstem disorders was carried out to establish the incidence and degree of hearing loss in this group as a whole and in each of three separate pathologies: multiple sclerosis, vertebro-basilar ischaemia and brainstem tumours. Pure tone audiograms were corrected for age and sex and upon analysis, thereafter, 59% and 26% of patients were found to have hearing thresholds in excess of 10dB and 30dB respectively. The hearing loss tended to be slight to moderate, 87% of those with a deficit were in the range 11--59dB, and tended to involve the higher frequencies. No characteristic audiometric configuration emerged. 75% of those with a hearing loss suffered a bilateral deficit. Considering the multiple sclerosis, vertebro-basilar insufficiency and tumour groups individually, similar findings were observed with the mildest losses occurring in multiple sclerosis and the most severe in the tumour group.