Ocena wyników leczenia głuchoty prelingwalnej za pomocą wszczepienia implantu ślimakowego w świetle funkcjonalnego polimorfizmu genów MMP9 i BDNF

Abstract

Background: Identification of genetic biomarkers of neuroplasticity after deafness treatment with cochlear implantation (CI) in congenitally deaf children might improve their post-implantation management. This would allow to focus rehabilitation effort on children, who are at risk of spoken language development failure. Material and methods: We carried out a retrospective cohort analysis investigating whether carrying certain variants in the genes encoding matrix metalloproteinase MMP9 and neurotrophin BDNF, key players in synaptic plasticity, can be taken as prognostic marker of auditory development. In the analyzed group of 121 children we assessed the presence of genetic variants of rs3918242 of MMP9 and rs6265 of BDNF and the results were associated with auditory development measurements with LittlEARS Questionnaire (LEAQ) before implant activation and at 1, 5, 9, 14 and 24 months after CI activation. All enrolled children were diagnosed with congenital deafness and unilaterally implanted before the age of 2 years. Results: Statistical analysis showed significant association between MMP9 rs3918242 and LEAQ scores at 24 months after CI activation and between BDNF rs6265 and LEAQ score at 5 months after CI activation. In the subgroup implanted after 1 year of life significant associations between MMP9 rs3918242 and LEAQ scores were observed in all, but 14th month, follow up intervals. No significant associations were identified in the subgroup implanted before 1 year of life. Conclusions: In summary, carriers of the C/C genotype rs3918242 MMP9 may respond better to cochlear implantation, by reaching higher LEAQ scores, than carriers of the C/T genotype rs3918242 MMP9.