scholarly journals GJB2 c.235delC variant associated with autosomal recessive nonsyndromic hearing loss and auditory neuropathy spectrum disorder

2019 ◽  
Vol 42 (1) ◽  
pp. 48-51 ◽  
Author(s):  
Hong Xia ◽  
Xiangjun Huang ◽  
Hongbo Xu ◽  
Yong-an Zhou ◽  
Lina Gong ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Autosomal Recessive ◽  
Auditory Neuropathy ◽  
Spectrum Disorder ◽  
Nonsyndromic Hearing Loss ◽  
Auditory Neuropathy Spectrum Disorder

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.

The audiovestibular profile of Brown-Vialetto-Van Laere syndrome

2021 ◽  
Vol 135 (11) ◽  
pp. 1000-1009
Author(s):  
R Omar ◽  
K Rajput ◽  
T Sirimanna ◽  
S Rajput ◽  
W Pagarkar
Keyword(s):  
Hearing Loss ◽  
Characteristic Feature ◽  
Motor Function ◽  
Cochlear Implantation ◽  
Cranial Nerve ◽  
Vestibular Function ◽  
Auditory Neuropathy ◽  
Spectrum Disorder ◽  
Significant Heterogeneity ◽  
Auditory Neuropathy Spectrum Disorder

AbstractBackgroundBrown-Vialetto-Van Laere syndrome, a rare disorder associated with motor, sensory and cranial nerve neuropathy, is caused by mutations in riboflavin transporter genes SLC52A2 and SLC52A3. Hearing loss is a characteristic feature of Brown-Vialetto-Van Laere syndrome and has been shown in recent studies to be characterised by auditory neuropathy spectrum disorder.MethodThis study reports the detailed audiovestibular profiles of four cases of Brown-Vialetto-Van Laere syndrome with SLC52A2 and SLC52A3 mutations. All of these patients had auditory neuropathy spectrum disorder.ResultsThere was significant heterogeneity in vestibular function and in the benefit gained from cochlear implantation. The audiological response to riboflavin therapy was also variable, in contrast to generalised improvement in motor function.ConclusionWe suggest that comprehensive testing of vestibular function should be conducted in Brown-Vialetto-Van Laere syndrome, in addition to serial behavioural audiometry as part of the systematic examination of the effects of riboflavin.

scholarly journals Evaluation of Dizziness Handicap in Adolescents and Adults with Auditory Neuropathy Spectrum Disorder

2017 ◽  
Vol 22 (01) ◽  
pp. 014-018
Author(s):  
Prashanth Prabhu ◽  
Pratyasha Jamuar
Keyword(s):  
Quality Of Life ◽  
Hearing Loss ◽  
Real Life ◽  
Gender Effect ◽  
Auditory Neuropathy ◽  
Spectrum Disorder ◽  
Moderate Degree ◽  
Auditory Neuropathy Spectrum Disorder ◽  
Adolescents And Adults

Introduction Vestibular symptoms and damage to the vestibular branch of the eighth cranial nerve is reported in individuals with auditory neuropathy spectrum disorder (ANSD). However, the real life handicap caused by these vestibular problems in individuals with ANSD is not studied. Objective The present study attempted to evaluate the dizziness-related handicap in adolescents and adults with ANSD. Method The dizziness handicap inventory (DHI) was administered to 40 adolescents and adults diagnosed with ANSD. The study also attempted to determine if there is any gender effect on DHI scores and its correlation to the reported onset of hearing loss. Results The results of the study showed that adolescents and adults with ANSD had a moderate degree of dizziness-related handicap. The dizziness affected their quality of life, causing emotional problems. There was no gender effect, and the level of the handicap was greater in the cases in which the onset of the hearing loss was reported soon after the diagnosis of ANSD. There could be a vestibular compensation that could have resulted in a reduction in symptoms in individuals in whom the onset of the hearing loss was reported later on. Conclusion Thus, a detailed assessment of vestibular problems and their impact on quality of life is essential in adolescents and adults with ANSD. Appropriate management strategies should be considered to resolve their vestibular problems and improve their quality of life.

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

Genes ◽  
2022 ◽  
Vol 13 (1) ◽  
pp. 149
Author(s):  
María Domínguez-Ruiz ◽  
Montserrat Rodríguez-Ballesteros ◽  
Marta Gandía ◽  
Elena Gómez-Rosas ◽  
Manuela Villamar ◽  
...  
Keyword(s):  
Hearing Impairment ◽  
Autosomal Recessive ◽  
Auditory Neuropathy ◽  
Spectrum Disorder ◽  
Gene Encoding ◽  
Auditory Neuropathy Spectrum Disorder ◽  
Familial Cases ◽  
Pathogenic Variants ◽  
Cochlear Hearing Loss ◽  
Syndromic Hearing Impairment

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.

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