Audiological Profiling in identical Twins with Auditory Neuropathy Spectrum Disorder: A Case Report

Pavan K; Sabarish Appu; Muhammed Shamil T V; Shilpa N

doi:10.37591/rrjon.v12i3.3043

Abstract

Congenital or late-onset auditory neuropathy spectrum disorder (ANSD) is a severe form of sensorineural hearing loss primarily affects speech perception. However, there are various etiologies, including birth-related risk factors such as prematurity, hyperbilirubinemia, a genetic infant admitted to neonatal intensive care unit (NICU), anoxia, congenital anomalies, consanguinity, and other infections. A genetic predisposition is likely to be the underlying causative factor in about 40% of cases. It can be inherited in either syndromic or non-syndromic patterns. The essential underlying pathogenesis of ANSD is at the molecular level, according to earlier researches that identified several genes linked to the disorder. The OTOF gene was the first to be identified as a cause of autosomal recessive non-syndromic ANSD. The below case report provides the audiological characteristics of identical twins diagnosed with a bilateral and unilateral auditory neuropathy spectrum disorder. The current case report provides information on the necessity of examining their genetic transmission with the appropriate genetic testing. It also insisted on the importance of genetic linkage analysis, and there is a need to identify several mutated genes responsible for ANSD. In order to completely understand and conduct research on the genetic factor causing ANSD, it is also crucial to take into account such case peculiarities. Keywords- Auditory Neuropathy Spectrum Disorder (ANSD), congenital ANSD, Auditory de-synchrony, Cochlear Microphonics (CM), Transient Evoked Oto Acoustic Emission (TEOAE).