Blanchet C, Roux A F, Hamel C, Ben Salah S, Artières F, Faugère V, Uziel A, Mondain M
CHU de Montpellier, Centre National de Référence Affections Sensorielles et Génétiques, Oto-rhino-laryngologie, 80 avenue Augustin Fliche, 34295 Montpellier 5, France.
Rev Laryngol Otol Rhinol (Bord). 2007;128(3):137-43.
To assess the benefit of cochlear implant in children presenting an Usher type 1 syndrome (speech understanding, speech production intelligibility, academic performance) and to search any correlation between the phenotype and the genotype in this population.
Retrospective case series analysis about 13 implanted Usher type I children. Cochlear implantation was performed from 1995 to 2005. Our population was divided in three groups: group 1 (implantation between 1 and 3 years of age); group 2 (implantation between 4 and 7 years of age) and group 3 (implantation between 14 and 17 years of age). Postoperative speech perception, speech production intelligibility and education settings were evaluated.
Molecular genetic analysis was performed in 11 patients and pathogenic mutations were identified in all cases: (mutation in myosin 7A gene in 5 cases; mutation in cadherin 23 gene in 6 cases). Four new mutations 2 in the MYO7A gene and 2 in the CDH23 gene never reported before were found. Walking delay and hearing level were not statistically correlated with the genotype abnormalities found. The speech discrimination skills, the speech production intelligibility and the academic performance were better in the group 1 children than the group 2 children after cochlear implantation. All the children of group 1 but one were in mainstreaming education. Specific language impairment was identified in two children of group 1. The group 3 children could not achieve open-set perceptive tasks after implantation--only closed-set word test can be done and their speech production remained unintelligible after cochlear implantation.
Molecular analysis of Usher type I syndrome can ascertain the diagnosis in spite of the genetic heterogeneity. In this study, clinical symptoms weren't correlated with genotypic mutations. Speech discrimination skills, speech production quality, and academic performance were correlated with the age at implant.
评估人工耳蜗植入对患有1型Usher综合征儿童的益处（言语理解、言语表达清晰度、学业成绩），并探究该人群中表型与基因型之间的相关性。
对13例接受人工耳蜗植入的1型Usher综合征儿童进行回顾性病例系列分析。人工耳蜗植入手术于1995年至2005年进行。我们将研究对象分为三组：第1组（1至3岁接受植入）；第2组（4至7岁接受植入）和第3组（14至17岁接受植入）。评估术后的言语感知、言语表达清晰度和教育环境。
对11例患者进行了分子遗传学分析，所有病例均鉴定出致病突变：5例肌球蛋白7A基因突变；6例钙黏蛋白23基因突变。发现了4个新突变，其中2个在MYO7A基因中，2个在CDH23基因中，此前从未报道过。行走延迟和听力水平与所发现的基因型异常无统计学相关性。人工耳蜗植入后，第1组儿童的言语辨别能力、言语表达清晰度和学业成绩优于第2组儿童。第1组除1名儿童外，其他所有儿童均接受融合教育。第1组中有2名儿童被诊断为特定语言障碍。第3组儿童植入后无法完成开放式言语感知任务——只能进行封闭式单词测试，且人工耳蜗植入后其言语表达仍不清晰。
尽管存在基因异质性，但对1型Usher综合征进行分子分析仍可确诊。在本研究中，临床症状与基因型突变无关。言语辨别能力、言语表达质量和学业成绩与植入年龄相关。
