| 1. |
- Lopponen, T, et al.
(författare)
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Connexin 26 mutations and nonsyndromic hearing impairment in Northern Finland
- 2003
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Ingår i: Laryngoscope. - 1531-4995. ; 113:10, s. 1758-1763
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Tidskriftsartikel (refereegranskat)abstract
- Objective: The aims of the present study were to evaluate the role of the gap junction protein beta-2 gene (GJB2), encoding connexin 26 (Cx26), in children with moderate to profound prelingual nonsyndromic sensorineural hearing impairment (HI) and to investigate the carrier frequencies of the GJB2 gene mutations in a control population in Northern Finland. Methods: Mutation analysis was performed by direct sequencing and carrier detection by conformation sensitive gel electrophoresis further confirmed by direct sequencing. Results: Cx26 mutations were found in 15 of 71 (21.1%) (67 families) children with HI. Homozygosity for the mutation 35delG was shown to be the cause of HI in 13 of 15 (86.7%) children. Homozygosity for the M34T genotype was found in one child, and compound heterozygosity for the M34T/V37I genotype was found in another. Five families of those with suspected familial HI (29.4%) and six families out of those with sporadic HI (12.0%) had a homozygous or compound heterozygous mutation. The carrier frequency for the mutation 35delG was 1 of 78 (4 of 313) and that for the M34T was I of 26 (12 of 313). Conclusion: 35deIG/35deIG genotype was found to be a significant cause of moderate to profound prelingual. nonsyndromic sensorineural HI in Northern Finland. M34T/M34T genotype was seen in only one child, but the carrier frequency of the M34T allele was about three times higher than that of the 35delG mutation.
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| 2. |
- Mäki-Torkko, Elina, 1961-, et al.
(författare)
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Hearing impairment among adults : extent of the problem and scientific evidence on the outcome of hearing aid rehabilitation
- 2001
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Ingår i: Scandinavian audiology. Supplementum. - : Taylor & Francis. - 0107-8593 .- 0105-0397. ; 30:54
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Tidskriftsartikel (refereegranskat)abstract
- Scientific surveys on current and estimated prevalence of hearing impairment (HI) in adult populations (> or = 18 years of age) in Denmark, Finland, Norway, Sweden and the United Kingdom, and scientific reports on the outcome of hearing aid (HA) rehabilitation worldwide were reviewed. Only a few of the studies meet strict scientific criteria, and many locally clinically relevant studies cannot be generalized to larger populations. Population-based studies indicate an increase in prevalence of HI with age, but because of differences in study populations and available national population statistics, the studies do not allow reliable comparisons between countries or estimation of future prevalence of HI. Studies on HA prescription or outcomes do not provide uniform data in favour of non-linear amplification, but they do show some subject preference for the newer technology. No conclusions can be drawn regarding the degree of HI and the effects of amplification. The literature review alone gives only limited information regarding the extent of the problem of HI in adult populations in the target countries. Similarly, only a few studies on HA outcome meet strict scientific criteria and even fewer studies correlate rehabilitation outcome with the degree of HI, disability or handicap.
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