title: Population-based genetic study of childhood hearing impairment in the Trent Region of the United Kingdom.
abstract: The objective of the study was to investigate childhood hearing impairment in a population-based sample from a genetic perspective. Participants included 82 families with hearing-impaired children (aged 4-13) previously ascertained in the Trent Health Region. A questionnaire was mailed to all families, followed by a home visit and Connexin-26 35delG mutation screen. The Connexin-26 35delG mutation was identified in seven families (approximately 10 per cent of non-syndromal hearing impairment). Children of these families were significantly more likely than children with other modes of inheritance to have a profound hearing loss with a flat audiogram profile. The families of children with a significant admission to a neonatal intensive care unit were significantly less likely to have had genetic counselling. Eight families visited were found to have features suggestive of a genetic syndrome that had not been previously assigned a specific diagnosis. The study concluded that hearing-impaired children should be investigated systematically according to an agreed-upon protocol, which should include Connexin-26 35delG mutation analysis at least for those with severe-to-profound hearing loss.
authors.affiliation: MRC Institute of Hearing Research, University Park, Nottingham, United Kingdom.
authors.forename: M J
authors.initials: MJ
authors.lastname: Parker
authors.forename: H M
authors.initials: HM
authors.lastname: Fortnum
authors.forename: I D
authors.initials: ID
authors.lastname: Young
authors.forename: A C
authors.initials: AC
authors.lastname: Davis
authors.forename: R F
authors.initials: RF
authors.lastname: Mueller
mesh_terms: D000293:Adolescent; D002391:Catchment Area, Health; D002648:Child; D002675:Child, Preschool; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D005817:Genetic Counseling; D006311:Hearing Disorders / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008297:Male; D017354:Point Mutation / Q000235:genetics; D011159:Population Surveillance; D012720:Severity of Illness Index; D011795:Surveys and Questionnaires; D006113:United Kingdom / Q000453:epidemiology
chemical_list: D017630:Connexins; D000072259:Connexin 26