Dalamón Viviana, Lotersztein Vanesa, Lipovsek Marcela, Bèherán Agustina, Mondino Maria Elena, Diamante Fernando, Pallares Norma, Diamante Vicente, Elgoyhen Ana Belen
Instituto de Investigaciones en Ingenieria Genetica y Biologia Molecular, Consejo Nacional de Investigaciones Cientificas y Tecnicas, Universidad de Buenos Aires, Buenos Aires, Argentina.
Acta Otolaryngol. 2009 Apr;129(4):395-8. doi: 10.1080/00016480802566295.
There were no apparent differences in speech performance after cochlear implantation between patients with biallelic GJB2 and/or GJB6 mutations and those with deafness of unknown aetiology. These data have important implications for the selection of prognostic indicators of the outcome of cochlear implantation.
To compare performance after cochlear implantation in children with mutations in GJB2 (connexin 26) and/or GJB6 (connexin 30) and children with deafness of unknown aetiology.
Genetic analysis and speech performance evaluation was determined in 24 patients with (n=11) and without (n=13) biallelic GJB2 and/or GJB6 mutations who underwent cochlear implantation. Speech perception skills were measured 12 and 24 months after surgery. Each patient was classified in accordance with the speech perception category (SPC).
Overall, the two groups showed similar significant improvement in speech perception after implantation.
双等位基因GJB2和/或GJB6突变的患者与病因不明的耳聋患者在人工耳蜗植入后的言语表现无明显差异。这些数据对人工耳蜗植入结果的预后指标选择具有重要意义。
比较GJB2（连接蛋白26）和/或GJB6（连接蛋白30）突变儿童与病因不明的耳聋儿童人工耳蜗植入后的表现。
对24例接受人工耳蜗植入的双等位基因GJB2和/或GJB6突变患者（n = 11）和非突变患者（n = 13）进行基因分析和言语表现评估。在术后12个月和24个月测量言语感知技能。根据言语感知类别（SPC）对每位患者进行分类。
总体而言，两组在植入后言语感知方面均有相似的显著改善。
