Auditory neuropathy spectrum disorder with Brown–Vialetto–Van Laere syndrome: challenges in hearing rehabilitation

2015 ◽  
Vol 129 (5) ◽  
pp. 504-508 ◽  
Author(s):  
R Chandran ◽  
M Alexander ◽  
P Naina ◽  
A Balraj
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Case Series ◽  
Auditory Neuropathy ◽  
Sensorineural Hearing ◽  
Spectrum Disorder ◽  
Auditory Brainstem Responses ◽  
High Dose ◽  
Hearing Rehabilitation ◽  
Auditory Neuropathy Spectrum Disorder

AbstractBackground:Brown–Vialetto–Van Laere syndrome is a rare neurological disorder characterised by pontobulbar palsy and sensorineural hearing loss. Hearing rehabilitation continues to be a challenge because the exact lesion site is unknown.Case report:We examined the clinical and audiological profiles of a case series comprising four siblings with Brown–Vialetto–Van Laere syndrome who had decreased hearing and poor speech discrimination. Audiological investigations revealed normal otoacoustic emissions with absent auditory brainstem responses and middle-ear reflexes in sensorineural hearing loss, suggestive of auditory neuropathy spectrum disorder.Conclusion:The sensorineural hearing loss in Brown–Vialetto–Van Laere syndrome patients is a retrocochlear pathology resembling auditory neuropathy spectrum disorder, with the lesion being most probably of post-synaptic origin. Early cochlear implantation along with high-dose riboflavin represents a possible rehabilitation therapy. However, further research is needed to confirm this. This report emphasises the need for a thorough neurological evaluation of auditory neuropathy spectrum disorder patients.

scholarly journals Cortical Neurophysiologic Correlates of Auditory Threshold in Adults and Children With Normal Hearing and Auditory Neuropathy Spectrum Disorder

2020 ◽  
pp. 1-15
Author(s):  
Garrett Cardon ◽  
Anu Sharma
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Normal Hearing ◽  
Auditory Neuropathy ◽  
Auditory Threshold ◽  
Sensorineural Hearing ◽  
Spectrum Disorder ◽  
Threshold Estimation ◽  
Auditory Thresholds ◽  
Auditory Neuropathy Spectrum Disorder

Purpose Auditory threshold estimation using the auditory brainstem response or auditory steady state response is limited in some populations (e.g., individuals with auditory neuropathy spectrum disorder [ANSD] or those who have difficulty remaining still during testing and cannot tolerate general anesthetic). However, cortical auditory evoked potentials (CAEPs) can be recorded in many such patients and have been employed in threshold approximation. Thus, we studied CAEP estimates of auditory thresholds in participants with normal hearing, sensorineural hearing loss, and ANSD. Method We recorded CAEPs at varying intensity levels to speech (i.e., /ba/) and tones (i.e., 1 kHz) to estimate auditory thresholds in normal-hearing adults ( n = 10) and children ( n = 10) and case studies of children with sensorineural hearing loss and ANSD. Results Results showed a pattern of CAEP amplitude decrease and latency increase as stimulus intensities declined until waveform components disappeared near auditory threshold levels. Overall, CAEP thresholds were within 10 dB HL of behavioral thresholds for both stimuli. Conclusions The above findings suggest that CAEPs may be clinically useful in estimating auditory threshold in populations for whom such a method does not currently exist. Physiologic threshold estimation in difficult-to-test clinical populations could lead to earlier intervention and improved outcomes.

Perceptual separation of sensorineural hearing loss and auditory neuropathy spectrum disorder

2015 ◽  
Vol 126 (6) ◽  
pp. 1420-1425 ◽  
Author(s):  
Shuo Wang ◽  
Ruijuan Dong ◽  
Dongxin Liu ◽  
Yuan Wang ◽  
Yitao Mao ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Auditory Neuropathy ◽  
Sensorineural Hearing ◽  
Spectrum Disorder ◽  
Auditory Neuropathy Spectrum Disorder ◽  
Perceptual Separation

scholarly journals Plasticity in the Developing Auditory Cortex: Evidence from Children with Sensorineural Hearing Loss and Auditory Neuropathy Spectrum Disorder

2012 ◽  
Vol 23 (06) ◽  
pp. 396-411 ◽  
Author(s):  
Garrett Cardon ◽  
Julia Campbell ◽  
Anu Sharma
Keyword(s):  
Hearing Loss ◽  
Auditory Cortex ◽  
Sensorineural Hearing Loss ◽  
Hearing Aids ◽  
Auditory Neuropathy ◽  
Sensorineural Hearing ◽  
Spectrum Disorder ◽  
Early Deprivation ◽  
Auditory Neuropathy Spectrum Disorder ◽  
Cortical Input

The developing auditory cortex is highly plastic. As such, the cortex is both primed to mature normally and at risk for reorganizing abnormally, depending upon numerous factors that determine central maturation. From a clinical perspective, at least two major components of development can be manipulated: (1) input to the cortex and (2) the timing of cortical input. Children with sensorineural hearing loss (SNHL) and auditory neuropathy spectrum disorder (ANSD) have provided a model of early deprivation of sensory input to the cortex and demonstrated the resulting plasticity and development that can occur upon introduction of stimulation. In this article, we review several fundamental principles of cortical development and plasticity and discuss the clinical applications in children with SNHL and ANSD who receive intervention with hearing aids and/or cochlear implants.

scholarly journals TMTC2variant associated with sensorineural hearing loss and auditory neuropathy spectrum disorder in a family dyad

2018 ◽  
Vol 6 (4) ◽  
pp. 653-659 ◽  
Author(s):  
Hector Guillen-Ahlers ◽  
Christy B. Erbe ◽  
Frédéric D. Chevalier ◽  
Maria J. Montoya ◽  
Kip D. Zimmerman ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Auditory Neuropathy ◽  
Sensorineural Hearing ◽  
Spectrum Disorder ◽  
Auditory Neuropathy Spectrum Disorder

scholarly journals Auditory Neuropathy as the Initial Phenotype for Patients With ATP1A3 c.2452 G > A: Genotype–Phenotype Study and CI Management

2021 ◽  
Vol 9 ◽  
Author(s):  
Wenjia Wang ◽  
Jin Li ◽  
Lan Lan ◽  
Linyi Xie ◽  
Fen Xiong ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Pure Tone ◽  
De Novo ◽  
Pure Tone Audiometry ◽  
Auditory Neuropathy ◽  
Neurological Symptoms ◽  
Sensorineural Hearing ◽  
Auditory Brainstem Responses ◽  
Capos Syndrome

Objective: The objective of this study is to analyze the genotype–phenotype correlation of patients with auditory neuropathy (AN), which is a clinical condition featuring normal cochlear responses and abnormal neural responses, and ATP1A3 c.2452 G > A (p.E818K), which has been generally recognized as a genetic cause of cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) syndrome.Methods: Four patients diagnosed as AN by clinical evaluation and otoacoustic emission and auditory brainstem responses were recruited and analyzed by next-generation sequencing to identify candidate disease-causing variants. Sanger sequencing was performed on the patients and their parents to verify the results, and short tandem repeat-based testing was conducted to confirm the biological relationship between the parents and the patients. Furthermore, cochlear implantation (CI) was performed in one AN patient to reconstruct hearing.Results: Four subjects with AN were identified to share a de novo variant, p.E818K in the ATP1A3 gene. Except for the AN phenotype, patients 1 and 2 exhibited varying degrees of neurological symptoms, implying that they can be diagnosed as CAPOS syndrome. During the 15 years follow-up of patient 1, we observed delayed neurological events and progressive bilateral sensorineural hearing loss in pure tone threshold (pure tone audiometry, PTA). Patient 2 underwent CI on his left ear, and the result was poor. The other two patients (patient 3 and patient 4, who were 8 and 6 years old, respectively) denied any neurological symptoms.Conclusion:ATP1A3 p.E818K has rarely been documented in the Chinese AN population. Our study confirms that p.E818K in the ATP1A3 gene is a multiethnic cause of AN in Chinese individuals. Our study further demonstrates the significance of genetic testing for this specific mutation for identifying the special subtype of AN with somewhat favorable CI outcome and offers a more accurate genetic counseling about the specific de novo mutation.

The inner ear

2019 ◽  
pp. 117-161
Author(s):  
Rogan Corbridge ◽  
Nicholas Steventon
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Inner Ear ◽  
Bone Fractures ◽  
Auditory Neuropathy ◽  
Spectrum Disorder ◽  
Noise Induced Hearing Loss ◽  
Hearing Rehabilitation ◽  
Age Related ◽  
Age Related Hearing Loss

Conditions affecting the inner ear are delineated. Sensorineural hearing loss and its aetiologies are explored in reference to age-related hearing loss, noise-induced hearing loss, syndromic problems, and auditory neuropathy spectrum disorder. Causes of vertigo related to peripheral vestibular dysfunction are discussed, including vestibular migraine. Management of temporal bone fractures and their sequelae are explored. Methods of hearing rehabilitation are described.

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