Cortical development and neuroplasticity in Auditory Neuropathy Spectrum Disorder

Sharma, Anu; Cardon, Garrett

doi:10.1016/j.heares.2015.06.001

Cited by 28 publications

(25 citation statements)

References 134 publications

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“…The clinical characteristics of AUNA types 1 and 2 are summarized in Table 2 . CAEP demonstrates normal responses in subjects with mild and moderate hearing loss and delayed and reduced responses in those with profound hearing loss. As known from other studies, synchronous responses in CAEP correspond with better speech comprehension, comparable to our findings [Sharma and Cardon, 2015]. This may explain our finding of normal language development and high performance in speech comprehension while ABR were already pathological in the first decade of life.…”

Section: Discussionsupporting

confidence: 93%

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AUNA2: A Novel Type of Non-Syndromic Slowly Progressive Auditory Synaptopathy/Auditory Neuropathy with Autosomal-Dominant Inheritance

Lang‐Roth

Fischer-Krall²,

Kornblum³

et al. 2017

Audiol Neurotol

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Background: Auditory synaptopathy/neuropathy (AS/AN) is a heterogeneous disorder, which may be caused by environmental factors like postnatal hyperbilirubinemia or by genetic factors. The genetic forms are subdivided into syndromic and non-syndromic types, and show different inheritance patterns with a strong preponderance of autosomal-recessive forms. To date, only a single locus for non-syndromic autosomal-dominant AS/AN (AUNA1) has been reported in a single family, in which a non-coding DIAPH3 mutation was subsequently described as causative. Materials and Methods: Here, we report detailed clinical data on a large German AS/AN family with slowly progressive postlingual hearing loss. Affected family members developed their first symptoms in their second decade. Moderate hearing loss in the fourth decade then progressed to profound hearing impairment in older family members. Comprehensive audiological and neurological tests were performed in the affected family members. Genetic testing comprised linkage analyses with polymorphic markers and a genome-wide linkage analysis using the Affymetrix GeneChip® Human Mapping 250K. Results and Conclusion: We identified a large family with autosomal-dominant AS/AN. By means of linkage analyses, the AUNA1 locus was excluded, and putatively linked regions on chromosomal bands 12q24 and 13q34 were identified as likely carrying the second locus for autosomal-dominant AS/AN (AUNA2). AUNA2 is associated with a slowly progressive postlingual hearing loss without any evidence for additional symptoms in other organ systems.

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Section: Discussionsupporting

confidence: 93%

“…The presence of CAEP is an indicator for better prognosis. The mean amplitude of N1/P2 is lower in poor performers than in high performers [Narne and Vanaja, 2008;Sharma and Cardon, 2015;Starr et al, 1996].…”

mentioning

confidence: 81%

AUNA2: A Novel Type of Non-Syndromic Slowly Progressive Auditory Synaptopathy/Auditory Neuropathy with Autosomal-Dominant Inheritance

Lang‐Roth

Fischer-Krall²,

Kornblum³

et al. 2017

Audiol Neurotol

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“…In line with the previous report [ 11 ], the CI outcomes of our DFNB9 cohorts also demonstrated favorable results, with small variance, according to the timing of implantation (early vs. late) although small sample size undermined the conclusion. This phenomenon might be partly due to the fact that the late-CI group also received CI around 24 months, which was still regarded as the acceptable period for proper auditory development [ 29 ].…”

Section: Discussionmentioning

confidence: 99%

Mutational and phenotypic spectrum of OTOF-related auditory neuropathy in Koreans: eliciting reciprocal interaction between bench and clinics

et al. 2018

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BackgroundWhile auditory neuropathy spectrum disorder (ANSD) is a heterogeneous disorder and its management quite varies depending upon the etiology, even including self-resolution, OTOF is an important molecular etiology of prelingual ANSD and has emerged as an attractive target for implementation of precision medicine in terms of timing and prognosis prediction of auditory rehabilitation. However, to date, the literature is lacking in the genotype–phenotype relationship of this gene as well as efficient molecular testing strategy in the clinic in many populations and to make things more complicated in Koreans, the most prevalent variant p.Arg1939Gln among Korean ANSD children frequently evaded detection by next generation sequencing (NGS), resulting in delayed genetic diagnosis and late cochlear implantation (CI). The aims of this study are to document the mutational and phenotypic spectrum of OTOF-related ANSD (DFNB9) in the Korean population, further establishing genotype–phenotype correlation and proposing a set of the most commonly found OTOF variants to be screened first.MethodsGenetic diagnosis through the NGS-based sequencing was made on patients with ANSD in two tertiary hospitals. Genotype and phenotypes of eleven DFNB9 patients were reviewed. For data analysis, Mann–Whitney test and Fisher’s exact test were applied.ResultsThis study disclosed four prevalent variants in Koreans: p.Arg1939Gln with an allele frequency of 40.9%, p.Glu841Lys (13.6%), p.Leu1011Pro and p.Arg1856Trp (9.1%). Three novel variants (c.4227 + 5G > C, p.Gly1845Glu, and p.Pro1931Thr) were identified. Interestingly, a significant association of p.Arg1939Gln with worse ASSR thresholds was observed despite consistently no ABR response. Ten of 11 DFNB9 patients received CI for auditory rehabilitation, showing favorable outcomes with more rapid improvement on early-CI group (age at CI ≤ 18 mo.) than late-CI group.ConclusionsThis study included the largest Korean DFNB9 cohort to date and proposed a set of the most frequent four OTOF variants, allowing the potential prioritization of exons during Sanger sequencing. Further, a significant association of p.Arg1939Gln homozygotes with poor residual hearing was observed. We may have to suspect p.Arg1939Gln homozygosity in cases of poor auditory thresholds in ANSD children with putative negative OTOF variants solely screened by NGS. Reciprocal feedback between bench and clinics regarding DFNB9 would complement each other.

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“… Cardon and Sharma (2013) also reported “cochlear implants seem to yield more favorable results in a greater number of children than hearing aids”. A large number of research articles have shown behavioral auditory thresholds cannot predict behavioral outcomes in children with ANSD ( Rance et al., 2002 , Sharma et al., 2011 , Cardon and Sharma, 2013 ) and proposed the possibility of utilizing CAEPs in obtaining auditory thresholds in children with ANSD ( Sharma and Cardon, 2015 ). Collectively, the authors suggested P1 CAEP might provide an useful clinical tool for guiding intervention choices and assessing their efficacy in children with ANSD.…”

Section: Outcome Studies Guide Research and Clinical Decisionsmentioning

confidence: 99%

Current trends in outcome studies for children with hearing loss and the need to establish a comprehensive framework of measuring outcomes in children with hearing loss in China

Liu

2016

Journal of Otology

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Since the 1970s, outcome studies for children with hearing loss expanded from focusing on assessing auditory awareness and speech perception skills to evaluating language and speech development. Since the early 2000s, the multi-center large scale research systematically studied outcomes in the areas of auditory awareness, speech-perception, language development, speech development, educational achievements, cognitive development, and psychosocial development. These studies advocated the establishment of baseline and regular follow-up evaluations with a comprehensive framework centered on language development. Recent research interests also include understanding the vast differences in outcomes for children with hearing loss, understanding the relationships between neurocognitive development and language acquisition in children with hearing loss, and using outcome studies to guide evidence-based clinical practice. After the establishment of standardized Mandarin language assessments, outcomes research in Mainland China has the potential to expand beyond auditory awareness and speech perception studies.

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Cortical development and neuroplasticity in Auditory Neuropathy Spectrum Disorder

Cited by 28 publications

References 134 publications

AUNA2: A Novel Type of Non-Syndromic Slowly Progressive Auditory Synaptopathy/Auditory Neuropathy with Autosomal-Dominant Inheritance

AUNA2: A Novel Type of Non-Syndromic Slowly Progressive Auditory Synaptopathy/Auditory Neuropathy with Autosomal-Dominant Inheritance

Mutational and phenotypic spectrum of OTOF-related auditory neuropathy in Koreans: eliciting reciprocal interaction between bench and clinics

Current trends in outcome studies for children with hearing loss and the need to establish a comprehensive framework of measuring outcomes in children with hearing loss in China

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