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哥伦比亚某收容机构人群耳聋病因研究。

Study of the etiology of deafness in an institutionalized population in Colombia.

作者信息

Tamayo M L, Bernal J E, Tamayo G E, Frias J L

机构信息

Unidad de Genetica Clinica, Facultad de Medicina, Pontificia Universidad Javeriana, Bogota, Colombia.

出版信息

Am J Med Genet. 1992 Nov 1;44(4):405-8. doi: 10.1002/ajmg.1320440403.

Abstract

To identify causative factors we screened 1,715 deaf individuals from 16 schools for the deaf in Colombia. We found evidence of environmental causation in 579 (33.8%) cases, genetic in 608 (35.4%), and in 528 (30.8%) we were unable to identify the etiology. The degree of hearing loss was severe to profound in 1,238 (72.2%), although in 987 (57.5%) of the deaf population studied the hearing impairment was not noticed until 2 to 5 years of age. The frequent association of deafness with other anomalies underscores the importance of a careful clinical and ophthalmologic evaluation in individuals with hearing loss. Our observations also emphasize the need for programs directed towards the prevention of hearing loss, including primary prevention as well as early diagnosis, investigation of possible genetic causes, and rehabilitation of deaf individuals.

摘要

为了确定致病因素,我们对来自哥伦比亚16所聋校的1715名聋人个体进行了筛查。我们发现579例(33.8%)有环境致病证据,608例(35.4%)有遗传致病证据,528例(30.8%)我们无法确定病因。听力损失程度为重度至极重度的有1238例(72.2%),不过在所研究的聋人人群中,987例(57.5%)直到2至5岁才被发现有听力障碍。耳聋与其他异常情况的频繁关联凸显了对听力损失个体进行仔细临床和眼科评估的重要性。我们的观察结果还强调了开展预防听力损失项目的必要性,包括一级预防以及早期诊断、对可能的遗传病因进行调查和对聋人个体进行康复治疗。

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