Otorhinolaryngosurgery Clinic, Institute of Physiology and Pathology of Hearing, Warsaw, Poland.
World Hearing Centre, Nadarzyn, Poland.
Trends Hear. 2021 Jan-Dec;25:23312165211002140. doi: 10.1177/23312165211002140.
Genetic biomarkers of neuroplasticity in deaf children treated with cochlear implantation (CI) might facilitate their clinical management, especially giving them better chances of developing proficient spoken language. We investigated whether carrying certain variants of the genes encoding matrix metalloproteinase and neurotrophin brain-derived neurotrophic factor (), involved in synaptic plasticity, can be taken as prognostic markers of how well auditory skills might be acquired. Association analysis of functional rs3918242 and rs6265 variants and the child's auditory development measured at CI activation and 1, 5, 9, 14, and 24 months post CI activation with LittlEARS Questionnaire (LEAQ) was conducted in a group of 100 children diagnosed with DFNB1-related deafness, unilaterally implanted before the age of 2 years. Statistical analysis in the subgroup implanted after 1 year of life ( = 53) showed significant association between rs3918242 and LEAQ scores at 1 month ( = .01), at 5 months ( = .01), at 9 months ( = .01), and at 24 months ( = .01) after CI activation. No significant associations in the subgroup implanted before 1 year of life were observed. No significant associations between the rs6265 and LEAQ score were found. Multiple regression analysis ( = .73) in the subgroup implanted after 1 year of life revealed that rs3918242 was a significant predictor of treatment outcome. In conclusion, C/C rs3918242 predisposes their deaf carriers to better CI outcomes, especially when implanted after the first birthday, than carriers of C/T rs3918242
携带某些基因(编码基质金属蛋白酶和神经营养因子脑源性神经营养因子()的变体可能有助于患有感音神经性聋的儿童进行临床管理,尤其是提高他们发展出熟练口语的机会。我们研究了是否可以将参与突触可塑性的基因编码的某些变体(基质金属蛋白酶和神经营养因子脑源性神经营养因子()的变体作为预测听觉技能获得程度的预后标志物。我们对 100 名被诊断为与 DFNB1 相关的聋儿进行了功能 rs3918242 和 rs6265 变体的关联分析,并在单侧植入 CI 后 2 岁前,在 CI 激活后 1、5、9、14 和 24 个月时使用 LittlEARS 问卷(LEAQ)测量儿童的听觉发育。在植入年龄大于 1 岁的儿童亚组(n=53)中进行的统计分析显示,rs3918242 与 CI 激活后 1 个月(=0.01)、5 个月(=0.01)、9 个月(=0.01)和 24 个月(=0.01)的 LEAQ 评分显著相关。在植入年龄小于 1 岁的儿童亚组中未观察到显著相关性。rs6265 与 LEAQ 评分之间无显著相关性。在植入年龄大于 1 岁的儿童亚组中进行的多元回归分析(n=0.73)表明,rs3918242 是治疗结果的显著预测因子。总之,C/C rs3918242 使携带它的聋儿在接受 CI 治疗后获得更好的结果,尤其是在 1 岁后植入时,优于携带 C/T rs3918242 的聋儿。