Auditory interhemispheric transfer deficits, hearing difficulties, and brain magnetic resonance imaging abnormalities in children with congenital aniridia due to PAX6 mutations
Auditory interhemispheric transfer deficits, hearing difficulties, and brain magnetic resonance imaging abnormalities in children with congenital aniridia due to PAX6 mutations
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DOI：
10.1001/archpedi.161.5.463
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发表时间：
2007-05-01
影响因子：
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通讯作者：
Luxon, Linda M.
中科院分区：
文献类型：
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作者：
Bamiou, Doris-Eva;Free, Samantha L.;Luxon, Linda M.
目的：评估 PAX6 突变导致的全眼发育性无虹膜儿童的听觉处理、听力困难和脑磁共振 (MR) 成像异常。设计：病例对照研究。地点：大奥蒙德街医院和儿童健康研究所。参与者：11 名患有 PAX6 突变的病例受试者和 11 名年龄匹配和性别匹配的健康对照受试者。干预措施：所有受试者都完成了结构化听力问卷、基线测听和中枢听觉测试（双耳分辩言语测试、频率和持续时间模式测试以及噪声间隙测试）。病例受试者接受脑部MR成像容量测定，并将结果与从放射学和物理单位数据库中随机选择的年龄匹配和性别匹配的健康对照受试者进行比较。主要观察指标：脑部MR成像、中枢听觉测试结果和问卷评分。结果：与对照组相比，病例脑容量测定中胼胝体面积明显较小。 7 例前连合较小，3 例通过脑部 MR 图像目视检查（11 例中的 10 例进行）显示前连合正常。听力图显示所有儿童均未发现异常。所有对照组的中枢听觉测试结果均正常，除 1 例异常模式与听觉半球间传递减少一致外，所有病例均异常。与对照组相比，这些病例在噪音中定位声音和理解言语的困难更大。结论：尽管听力图正常，但患有 PAX6 突变的儿童可能会经历听觉半球间传递缺陷，并且在噪音中定位声音和理解言语有困难。鉴于他们额外的视觉困难，需要对这些儿童进行彻底的听力学评估，以启动适当的管理。
Objective: To assess auditory processing, hearing difficulties, and brain magnetic resonance (MR) imaging abnormalities in children with panocular developmental aniridia due to PAX6 mutations.Design: Case-control study.Setting: Great Ormond Street Hospital and institute of Child Health.Participants: Eleven case subjects with PAX6 mutations and 11 age-matched and sex-matched healthy control subjects.Interventions: All subjects completed a structured hearing questionnaire, baseline audiometry, and central auditory tests (dichotic speech tests, frequency and duration pattern tests, and gaps-in-noise test). Case subjects underwent brain MR imaging with volumetry, and the results were compared with those of age-matched and sex-matched healthy control subjects randomly selected from the Radiology and Physics Unit database.Main Outcome Measures: Brain MR imaging, central auditory test results, and questionnaire scores.Results: The corpus callosum area was significantly smaller on brain volumetry in the cases compared with the controls. The anterior commissure was small in 7 cases and was normal in 3 cases on visual inspection of brain MR images (conducted in 10 of 11 cases). Audiograms showed no abnormalities in any of the children. Central auditory test results were normal in all the controls and were abnormal in all the cases except for 1 case with a pattern of abnormalities consistent with reduced auditory interhemispheric transfer. The cases had greater difficulty localizing sound and understanding speech in noise than the controls.Conclusions: Despite normal audiograms, children with PAX6 mutations may experience auditory interhemispheric transfer deficits and have difficulty localizing sound and understanding speech in noise. In view of their additional visual difficulties, thorough audiological evaluation of these children is indicated to initiate appropriate management.