Audiological findings in a hereditary auditory neuropathy pedigree
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    Abstract:

    Objective:To explore the audiological characteristics of a hereditary auditory neuropathy(AN) pedigree. Methods: Twenty-three members of the AN family were selected for this study. Detailed history collection, physical examination and systematic audiological evaluations were conducted. The later included pure tone audiometry, acoustic immittance, auditory brainstem response (ABR), cochlear microphonics(CMs), and evoked otoacoustic emissions(EOAEs). Two hearing-impaired cases received 2 years-蒺 follow-up for their pure tone hearing. Results:Seven family members were diagnosed as AN according to the audiological data. In six of them, the hearing impairment started before the age of nine and progressed rapidly within 1 to 2 years. Pure tone audiometry showed bilateral symmetric, severe to profound hearing loss with high frequency sloping configuration in these patients. Other audiological tests revealed absence of acoustic reflexes and ABRs, and normal or near normal outer hear cell function as indicated in CMs and EOAEs. In one subject who didn't complain of hearing problem, however, the pure tone audiometry showed bilateral symmetric mild hearing loss with only high frequency involvement. The acoustic reflexes and ABR threshold in this patient were coincident with his hearing level; the CMs and EOAEs were within normal range. During two years-蒺 follow-up of hearing-impaired subjects, the hearing loss was progressive. Physical examination showed normal findings for all family members. Conclusion:Audiological phenotype of the AN pedigree is a form of nonsyndromic, bilateral symmetric, high frequency and sensorineural hearing impairment. The hearing loss of family members is either rapidly progressive, severe to profound with early-onset or slowly progressive, mild with later-onset.

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陈智斌,邢光前,曹新,田慧琴,李晓璐,魏钦俊,卜行宽.一遗传性听神经病家系的听力学表型特征[J].南京医科大学学报(自然科学版英文版),2007,(4):322-325.

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  • Received:September 05,2006
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