학술논문
Variations in genetic assessment and recurrence risks quoted for childhood deafness: a survey of clinical geneticists
Document Type
Academic Journal
Author
Source
Journal of Medical Genetics. Feb 01, 1999 36(2):125-130
Subject
Language
English
ISSN
0022-2593
Abstract
We report here the results of a questionnaire survey of consultant clinical geneticists in the United Kingdom to which we had an 81% response rate.In this questionnaire we asked about: (1) the nature of services currently offered to families with hearing impaired children, (2) what recurrence risks they quoted in isolated non-syndromic cases, and (3) what they might suggest for improving the range of genetic services available at present. We noted great variation both in these services and in the recurrence risks quoted in isolated cases. Based on the results of the questionnaire, we have proposed a protocol for the investigation of permanent childhood hearing impairment, which we believe to be both comprehensive and practical in an outpatient clinic setting. It is only by improving existing clinical and social understanding and knowledge of childhood hearing impairment that it will become possible to use recent molecular advances to develop comprehensive and consistent services for these families.(J Med Genet 1999;36:125-130)