Deafness and Hereditary Hearing Loss Overview

摘要: Summary Disease characteristics. Several hundred genes are known to cause hereditary hearing loss and deafness. The may be conductive, sensorineural, or a combination of both; syndromic nonsyndromic; prelingual (before language develops) postlingual (after develops). Diagnosis/testing. Genetic forms must distinguished from acquired (non-genetic) causes loss. genetic diagnosed by otologic, audiologic, physical examination, family history, ancillary testing (such as CT examination the temporal bone), molecular testing. Molecular tests available for many types nonsyndromic deafness, often only on research basis. On clinical basis, is diagnosis branchiootorenal (BOR) syndrome (EYA1 gene), Mohr-Tranebjaerg (deafnessdystonia-optic atrophy syndrome; TIMM8A Pendred (SLC26A4 Usher type 2A (USH2A 3 (one mutation in USH3A), DFNA3 DFNB1 (GJB2 GJB6 genes), DFN3 (POU3F4 DFNB4 DFNA6/14 (WFS1 DFNA8/12, DFNB9 (OTOF DFNB21 (TECTA gene). Testing deafness-causing mutations GJB2 gene (which encodes protein connexin 26) 30) plays prominent role counseling. Management. Hereditary managed team including an otolaryngologist, audiologist, geneticist, pediatrician, sometimes educator Deaf, neurologist, pediatric ophthalmologist. Treatment includes aids vibrotactile devices; cochlear implantation considered children over