The aim was to study the frequencies of common deafness-related mutations and their
contribution to hearing loss in different regions of Inner Mongolia. A total of 738
deaf children were recruited from five different ethnic groups of Inner Mongolia,
including Han Chinese (n=486), Mongolian (n=216), Manchurian (n=24), Hui (n=6) and
Daur (n=6). Nine common mutations in four genes (GJB2, SLC26A4, GJB3
and mitochondrial MT-RNR1 gene) were detected by allele-specific PCR
and universal array. At least one mutated allele was detected in 282 patients.
Pathogenic mutations were detected in 168 patients: 114 were homozygotes and 54 were
compound heterozygotes. The 114 patients were carriers of only one mutated allele.
The frequency of GJB2 variants in Han Chinese (21.0%) was higher
than that in Mongolians (16.7%), but not significantly different. On the other hand,
the frequency of SLC26A4 variants in Han Chinese (14.8%) was lower
than that in Mongolians (19.4%), but also not significantly different. The frequency
of patients with pathogenic mutations was different in Ulanqab (21.4%), Xilingol
(40.0%), Chifeng (40.0%), Hulunbeier (30.0%), Hohhot (26.3%), and in Baotou (0%). In
conclusion, the frequency of mutated alleles in deafness-related genes did not differ
between Han Chinese and Mongolians. However, differences in the distribution of
common deafness-related mutations were found among the investigated areas of Inner
Mongolia.
Aim. To study the effectiveness of cochlear implantation in deaf children with gene mutation. Method. 420 children from three medical centers with cochlear implants were selected. Before wearing the cochlear implant and 6 months after wearing the cochlear implant, the children’s rehabilitation efficacy was evaluated through categories of auditory performance (CAP) and speech intelligibility rating (SIR). The SSF-MCDI and MUSS before and after the treatment were also compared. Results. The CAP and SIR scores of the children after the intervention were higher than those before the intervention (
P
< 0.05). Univariate analysis found that the age of cochlear implantation, parents’ education level, and monthly family income were all influencing factors of the CAP score of children with prelingual cochlear implantation (
P
< 0.05). Multivariate logistic regression analysis shows that the age of cochlear implantation <5 years, parents’ education level, and monthly household income are all independent risks of CAP scores in children with prelingual deaf cochlear implantation. Univariate analysis found that the age of cochlear implantation, parents’ education level, and monthly household income are all based on the SIR scores of children with prelingual cochlear implantation. Multivariate logistic regression analysis can be obtained: the age of cochlear implantation less than 5 years, the education level of parents, and the monthly family income are independent risk factors for SIR scores in children with prelingual deaf cochlear implantation (
P
< 0.05). Conclusion. The rehabilitation effect of cochlear implants is significant, and the age of cochlear implantation, parents’ education level, and monthly family income are all related factors that affect the rehabilitation effect.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.