Subsequently, using a mini-gene assay, we examined the function of a novel splice site mutant of OTOF. For candidate pathogenic genes, we performed co-segregation among all family members of the pedigrees. Genomic DNA extracted from their peripheral blood was examined by next-generation sequencing (NGS) for a gene panel to identify any potential causal variations. Methods: Nine probands have been identified as ANSD based on the results of the ABR tests and DPOAE/CMs. To study the etiology of ANSD, we collected 9 probands with ANSD diagnosed in the clinic and performed targeted next-generation sequencing. To date, 13 genes identified as potentially causing ANSD have been documented. Objective: Auditory neuropathy spectrum disease (ANSD) is caused by both environmental and genetic causes and is defined by a failure in peripheral auditory neural transmission but normal outer hair cells function. 3Shanghai Key Laboratory of Translational Medicine on Ear and Nose Diseases, Shanghai, China.2Shanghai Jiao Tong University School of Medicine Ear Institute, Shanghai, China.1Department of Otorhinolaryngology-Head and Neck Surgery, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.Seminars in Hearing 2002: Copyright© 2002 by Thieme Medical Publishers, Inc.Lianhua Sun 1,2,3 * † Zhengyu Lin 1,2,3 † Jifang Zhang 1,2,3 † Jiali Shen 1,2,3 Xiaowen Wang 1,2,3 Jun Yang 1,2,3 * Sininger YS, editor Identification of auditory neuropathy in infants and children.Recommended Procedure Assessment And Management of Auditory Neuropathy Spectrum Disorder (ANSD) in Young Infants. Hypoxic ischaemic encephalopathy or intraventricular haemorrhage.Prematurity (particularly extreme Hyperbilirubinaemia (particularly extreme requiring exchange transfusion).(1) ANSD has also been associated with a number of risk factors:(1,2) Several gene variants have been associated, including those of the DFNB9 gene which codes for otoferlin protein involved in synaptic functioning at the inner cochlear hair cells.(1) Other possible causes may include neurodegenerative, metabolic and mitochondrial conditions, and structural conditions, such as hydrocephalus, tumours, auditory nerve or brainstem anomalies. This term was considered to better reflect the fact that this is not a diagnosis with single aetiology, but a range of possible disorders and prognoses defined by a pattern of test results (1)Įarly studies indicated that around 40% of cases of ANSD may have genetic cause (2) The condition was variably referred to as auditory dys-synchrony or de-synchrony, peri-synaptic audiopathy, auditory mismatch, neural hearing loss or persistent outer hair cell function, before ANSD was adopted by consensus in 2008. Absent or severely abnormal auditory brainstem response (ABR), demonstrating a disrupted auditory pathway. Present otoacoustic emissions (OAEs) and cochlear microphonics (CM) tests, demonstrating normal outer hair cell function.The term ‘auditory neuropathy’ was first used in 1996 when Starr et al (3) described 10 children and adults who presented with hearing impairment characterised by: has been estimated that ANSD may account for around 1 in 10 children with permanent childhood hearing impairment (PCHI) (2).Last edited 07/2020 and last reviewed 07/2020Īuditory Neuropathy Spectrum Disorder (ANSD) is a term used for a pattern of test results that show normal function of the outer sensory hair cells of the cochlear, but abnormal transmission at some point from the inner hair cells of the cochlear along the auditory nerve pathway to the auditory brainstem (1)
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