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Causes of hearing i...
Causes of hearing impairment in the Norwegian paediatric cochlear implant program
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Siem, Geir (författare)
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Fagerheim, Toril (författare)
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Jonsrud, Christoffer (författare)
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- Laurent, Claude (författare)
- Department of Otolaryngology, Faculty Division Rikshospitalet, University of Oslo, Norway; Department of Otolaryngology, Oslo University Hospital, Rikshospitalet, Oslo, Norway
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Teig, Erik (författare)
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Harris, Sten (författare)
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Leren, Trond P (författare)
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Früh, Andreas (författare)
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Heimdal, Ketil (författare)
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(creator_code:org_t)
- 2010-06-16
- 2010
- Engelska.
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Ingår i: International Journal of Audiology. - : Informa Healthcare. - 1499-2027 .- 1708-8186. ; 49:8, s. 596-605
- Relaterad länk:
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https://urn.kb.se/re...
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https://doi.org/10.3...
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Abstract
Ämnesord
Stäng
- Severe to profound hearing impairment (HI) is estimated to affect around 1/2000 young children. Advances in genetics have made it possible to identify several genes related to HI. This information can cast light upon prognostic factors regarding the outcome in cochlear implantation, and provide information both for scientific and genetic counselling purposes. From 1992 to 2005, 273 children from 254 families (probands) were offered cochlear implants in Norway. An evaluation of the causes of HI, especially regarding the genes GJB2, GJB6, SLC26A4, KCNQ1, KCNE1, and the mutation A1555G in mitochondrial DNA was performed in 85% of the families. The number of probands with unknown cause of HI was thus reduced from 120 to 68 (43% reduction). Ninety-eight (46%) of the probands had an identified genetic etiology of their HI. A relatively high prevalence of Jervell and Lange-Nielsen syndrome was found. The main causes of severe and profound HI were similar to those found in other European countries. GJB2 mutations are a common cause of prelingual HI in Norwegian cochlear implanted children.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Oto-rhino-laryngologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Otorhinolaryngology (hsv//eng)
Nyckelord
- Connexin 26
- Genetics
- Severe and profound hearing loss
- Cochlear implantation
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
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