Variations in genetic assessment and recurrence risks quoted for childhooddeafness: a survey of clinical geneticists

Citation
Mj. Parker et al., Variations in genetic assessment and recurrence risks quoted for childhooddeafness: a survey of clinical geneticists, J MED GENET, 36(2), 1999, pp. 125-130
Citations number
31
Categorie Soggetti
Research/Laboratory Medicine & Medical Tecnology","Molecular Biology & Genetics
Journal title
JOURNAL OF MEDICAL GENETICS
ISSN journal
00222593 → ACNP
Volume
36
Issue
2
Year of publication
1999
Pages
125 - 130
Database
ISI
SICI code
0022-2593(199902)36:2<125:VIGAAR>2.0.ZU;2-S
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 of fered to families with hearing impaired children, (2) what recurrence risks they quoted in isolated non-syndromic cases, and (3) what they might sugge st for improving the range of genetic services available at present. We not ed great variation both in these services and in the recurrence risks quote d in isolated cases. Eased on the results of the questionnaire, we have pro posed a protocol for the investigation of permanent childhood hearing impai rment, which we believe to be both comprehensive and practical in an outpat ient clinic setting. It is only by improving existing clinical and social u nderstanding and knowledge of childhood hearing impairment that it will bec ome possible to use recent molecular advances to develop comprehensive and consistent services for these families.