Nance W E, Sweeney A
Otolaryngol Clin North Am. 1975 Feb;8(1):19-48.
One half of all cases of childhood deafness are genetically caused, and this proportion will become increasingly larger as other causes come under control. The mode of transmission of hereditary hearing loss may be dominant, recessive, or X linked. Many varieties of childhood deafness can be distinguished by their accompanying anomalies. Other types of hereditary deafness occur, without associated abnormalities. Certain of these types may be delineated by the mode of transmission, age of onset, stability or progression, and audiometric findings. Further research on delineation of nonsyndromic hearing loss in necessary if treatment of specific kinds is to become a reality. Research also is needed to detect the carrier state in recessive and X linked types of hearing loss. In the absence of means of prevention and treatment for most cases of hereditary deafness, genetic counseling remains the most valuable course.
儿童期耳聋病例中有一半是由遗传因素引起的，随着其他致聋原因得到控制，这一比例将越来越高。遗传性听力损失的遗传方式可能是显性、隐性或X连锁。许多类型的儿童期耳聋可通过其伴随的异常表现来区分。还有其他类型的遗传性耳聋，不伴有相关异常。其中某些类型可通过遗传方式、发病年龄、病情稳定性或进展情况以及听力测定结果来界定。如果要实现针对特定类型耳聋的治疗，就需要对非综合征性听力损失的界定进行进一步研究。对于隐性和X连锁型听力损失，也需要开展研究以检测携带者状态。由于大多数遗传性耳聋病例缺乏预防和治疗手段，遗传咨询仍是最有价值的做法。
