Brain structure correlates with auditory function in children diagnosed with auditory neuropathy spectrum disorder
Sign Up to like & getrecommendations! Published in 2022 at "Brain and Behavior"
DOI: 10.1002/brb3.2773
Abstract: Auditory neuropathy spectrum disorder (ANSD) is a term for a collection of test results which indicate disruption of the auditory signal at some point along the neural pathway. This results in a spectrum of functional… read more here.
Keywords: brain structure; auditory neuropathy; brain; neuropathy spectrum ... See more keywords
Cortical processing of speech in individuals with auditory neuropathy spectrum disorder
Sign Up to like & getrecommendations! Published in 2018 at "European Archives of Oto-Rhino-Laryngology"
DOI: 10.1007/s00405-018-4966-8
Abstract: ObjectiveAuditory neuropathy spectrum disorder (ANSD) is a condition where cochlear amplification function (involving outer hair cells) is normal but neural conduction in the auditory pathway is disordered. This study was done to investigate the cortical… read more here.
Keywords: neuropathy spectrum; normal hearing; speech; spectrum disorder ... See more keywords
Case report of two children with auditory neuropathy spectrum disorder related to a neurofascin (NFASC) gene variant.
Sign Up to like & getrecommendations! Published in 2020 at "International journal of pediatric otorhinolaryngology"
DOI: 10.1016/j.ijporl.2020.109863
Abstract: We present a case of two siblings born to nonconsanguineous parents that presented with hypotonia, respiratory insufficiency, and auditory neuropathy spectrum disorder (ANSD) correlated with NFASC (MIM: 609145) and the homozygous loss of function variant… read more here.
Keywords: auditory neuropathy; neuropathy spectrum; spectrum disorder; case ... See more keywords
A nonsense TMEM43 variant leads to disruption of connexin-linked function and autosomal dominant auditory neuropathy spectrum disorder
Sign Up to like & getrecommendations! Published in 2021 at "Proceedings of the National Academy of Sciences of the United States of America"
DOI: 10.1073/pnas.2019681118
Abstract: Significance Auditory neuropathy spectrum disorder (ANSD) is a confounding auditory disease in which the subjects respond to sound but have difficulties in speech discrimination. Herein, we examined two Asian families with hereditary late-age–onset ANSD. By… read more here.
Keywords: auditory neuropathy; neuropathy spectrum; tmem43; spectrum disorder ... See more keywords
A 15-Year Review of 260 Children With Auditory Neuropathy Spectrum Disorder: I. Demographic and Diagnostic Characteristics.
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DOI: 10.1097/aud.0000000000001337
Abstract: OBJECTIVES The aim of the study was to review the demographic and clinical characteristics of all pediatric patients diagnosed with auditory neuropathy spectrum disorder (ANSD) by a pediatric health care system from 2005 to 2020… read more here.
Keywords: spectrum disorder; year; auditory neuropathy; neuropathy spectrum ... See more keywords
A 15-year Review of 260 Children With Auditory Neuropathy Spectrum Disorder: II. Management and Outcomes.
Sign Up to like & getrecommendations! Published in 2023 at "Ear and hearing"
DOI: 10.1097/aud.0000000000001366
Abstract: OBJECTIVES Following a review of the demographic and clinical characteristics of all pediatric patients diagnosed with auditory neuropathy spectrum disorder (ANSD) by a pediatric health care system from 2005 to 2020, the present report highlights… read more here.
Keywords: year; language; auditory neuropathy; speech language ... See more keywords
An OTOF Frameshift Variant Associated with Auditory Neuropathy Spectrum Disorder
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DOI: 10.2174/1389202919666171113152951
Abstract: Background: Auditory Neuropathy Spectrum Disorder (ANSD) is manifested as impairment of auditory nerve activity but preservation of the outer hair cell function. Objective: This study was to detect the disease-causing gene and variant(s) in a… read more here.
Keywords: auditory neuropathy; neuropathy spectrum; spectrum disorder; family ... See more keywords
Heterogeneous Group of Genetically Determined Auditory Neuropathy Spectrum Disorders
Sign Up to like & getrecommendations! Published in 2024 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms252312554
Abstract: Background: Auditory Neuropathy Spectrum Disorder (ANSD) is often missed by common hearing screening tests, still accounting for up to 10% of hearing impairments. ANSD has an underlying genetic factor being mostly caused by pathogenic variants… read more here.
Keywords: auditory neuropathy; heterogeneous group; ansd patients; group genetically ... See more keywords