迟发性显性遗传性感音神经性聋的听力和言语表现及其对策

目的：探讨2家系迟发性显性遗传性感音神经性聋的听力和言语情况。方法：对2家系进行耳聋遗传调查和系统的听力学调查。结果：2家系6例听阈检查示全频程听阈重度升高,听阈曲线呈缓降型,其中2例3耳仅低频听力残存。2家系耳聋发生年龄有逐代提前、代代相传、病程缩短、耳聋程度加重的特征。发生耳聋的年龄愈小,言语功能愈差。结论：应加强对遗传性聋的咨询,指导以及宣传工作。尽力减少或控制遗传性耳聋的发生率,对有家族遗传史者应定期进行听力学监测,对已发生耳聋者应及早配戴助听器并进行适当的言语训练。

Manifestations andTreatments of Hearing and Speech in Patients with Delayed Dominant HereditarySensorineural Deafness

To investigate the condition of the hearing and speech in subjects from 2 families with delayed dominant hereditary sensorineural deafness. Methods: The investigation of deafness heredity and the examination of systemic audiology were made in the 2 families. Results: The examination of pure tone hearing threshold showed that hearing threshold in all frequency ranges were severely elevated, the curve of hearing threshold revealed the descending type in 6 cases of the 2 families , among whom there were only residual hearings at low frequency in 3 ears of 2 cases, The ages of onset of hearing loss of the 2 families have some characteristics: the onset became younger, the course was shorter, the degree of deafness was worse from generation to generation. The earlier the onset of hearing loss was,the worse the speech function was. Conclusion:Ge- netic counseling and health education are important in reducing incidence of hereditary hearing loss. Hearing monitoring should be carried out periodically for children with history of hereditary hearing loss in their families. Hearing aids should be prescribed for probands as soon as hearing loss is verified. Speech rehabilitation is also advised when indicated.