Auditory and verbal working memory deficits in a child with congenital aniridia due to a PAX6 mutation
Auditory and verbal working memory deficits in a child with congenital aniridia due to a PAX6 mutation
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DOI：
10.1080/14992020601175952
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发表时间：
2007-04-01
影响因子：
2.7
通讯作者：
Luxon, Linda M.
中科院分区：
文献类型：
--
作者：
Bamiou, Doris-Eva;Campbell, Nicole G.;Luxon, Linda M.
PAX6编码一种对脑形态发生至关重要的转录调节因子。杂合PAX6突变与人类无虹膜和大脑半球间通路异常相关我们目前的情况下，一个12岁的男孩与已知突变的PAX6基因。父母担心他的听力，但重复的纯音听力图正常。他进行了一系列标准的中枢听觉测试，在需要听觉半球间转移的测试（双耳分音数字和模式测试）中得出了异常结果。一项言语和语言评估，得出了与年龄相适应的言语、接受性和表达性语言分数，显示言语工作记忆受损。这些测试结果被解释为表明听觉和高阶半球间转移受损，与PAX6突变的成人报告的结果一致，并与其父母报告的听力困难相关。这是第一份关于PAX6突变儿童中枢听觉和言语工作记忆缺陷的报告。需要进一步的研究来评估这些缺陷如何影响学习成绩，特别是在儿童时期。
PAX6 encodes a transcriptional regulator that is essential for brain morphogenesis. Heterozygous PAX6 mutation is associated with aniridia and abnormalities of the interhemispheric pathway in humans. We present the case of a 12 year old boy with a known mutation of the PAX6 gene. There were parental concerns regarding his hearing, but repeated pure-tone audiograms were normal. He had a battery of standard central auditory tests, which gave abnormal results in tests which required auditory interhemispheric transfer (dichotic digits and pattern tests). A speech and language assessment, which yielded age-appropriate scores for speech, receptive and expressive language, revealed impaired verbal working memory. These test results were interpreted as indicating impaired auditory sensory and higher order interhemispheric transfer, consistent with reported findings in adults w ith mutations in PAX6, and correlated with his parent-reported hearing difficulties. This is the first report of central auditory and verbal working memory deficits in a child with a PAX6 mutation. Further research is needed to assess how these deficits impact on academic performance particularly in childhood.