Occurrence of Auditory Neuropathy Spectrum Disorder in Kuwaiti infants at risk of hearing impairment

2016 ◽  
Vol 19 (2) ◽  
pp. 65-68 ◽  
Author(s):  
Aseel A. Al-Meqbel ◽  
Hamad H. Al-Baghli
Keyword(s):  
At Risk ◽  
Hearing Impairment ◽  
Auditory Neuropathy ◽  
Spectrum Disorder ◽  
Auditory Neuropathy Spectrum Disorder

Does riboflavin depletion cause auditory neuropathy spectrum disorder in at risk neonates?

2020 ◽  
Vol 137 ◽  
pp. 110238
Author(s):  
Adrian L. James ◽  
Pranesh Chakraborty ◽  
Christopher Tomlinson ◽  
Robert V. Harrison
Keyword(s):  
At Risk ◽  
Auditory Neuropathy ◽  
Spectrum Disorder ◽  
Auditory Neuropathy Spectrum Disorder

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.

Auditory testing outcomes with hearing aids in patients with auditory neuropathy spectrum disorder

2021 ◽  
Vol 42 (5) ◽  
pp. 103057
Author(s):  
Firas Sbeih ◽  
Donald M. Goldberg ◽  
Sara Liu ◽  
Maxwell Y. Lee ◽  
Gina Stillitano ◽  
...  
Keyword(s):  
Hearing Aids ◽  
Auditory Neuropathy ◽  
Spectrum Disorder ◽  
Auditory Neuropathy Spectrum Disorder

Outcomes of audiometric testing in children with auditory neuropathy spectrum disorder

2020 ◽  
Vol 129 ◽  
pp. 109757 ◽  
Author(s):  
Joseph B. Meleca ◽  
Gina Stillitano ◽  
Maxwell Y. Lee ◽  
Whitney Lyle ◽  
Yi-Chun Carol Liu ◽  
...  
Keyword(s):  
Auditory Neuropathy ◽  
Spectrum Disorder ◽  
Auditory Neuropathy Spectrum Disorder

Gender Differences in Audiological Findings and Hearing Aid Benefit in 255 Individuals with Auditory Neuropathy Spectrum Disorder: A Retrospective Study

2016 ◽  
Vol 27 (10) ◽  
pp. 839-845 ◽  
Author(s):  
Vijaya Kumar Narne ◽  
Prashanth Prabhu ◽  
Hunsur S. Chandan ◽  
Mahadeva Deepthi
Keyword(s):  
Gender Differences ◽  
Retrospective Study ◽  
Hearing Aids ◽  
Otoacoustic Emissions ◽  
Hearing Aid ◽  
Auditory Neuropathy ◽  
Spectrum Disorder ◽  
Auditory Neuropathy Spectrum Disorder ◽  
Acoustic Reflexes ◽  
Hearing Aid Benefit

Background: There are many studies reported in the literature that have summarized audiological findings and possible rehabilitation in individuals with auditory neuropathy spectrum disorder (ANSD). However, there are very few studies that have attempted to delineate the gender differences in audiological characteristics and hearing aid benefit in individuals with ANSD. Purpose: The study aimed to explore the differences between males and females in terms of demographic details, audiogram, speech identification scores, otoacoustic emissions, acoustic reflexes, long latency responses, and hearing aid benefit. Research Design: A retrospective study. Study Sample: A total of 255 individuals diagnosed with ANSD were selected for the study. The study included 137 females and 88 males. Data Collection and Analysis: The demographic details, results of diagnostic audiological testing, and hearing aid benefit were analyzed retrospectively. The differences in findings across gender were compared. Results: The study shows that females have a relatively higher degree of hearing loss and that the majority of females show a rising type of audiometric configuration. The study shows that females have poorer speech perception abilities and experience limited benefits from hearing aids compared to males. Conclusions: The results of the study show that there are gender differences in audiological findings and hearing aid benefits in individuals with ANSD. However, well-controlled prospective studies are essential to confirm the results obtained and to identify the possible mechanisms underlying the gender differences.

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