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
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.