Bamiou Doris-Eva, Free Samantha L, Sisodiya Sanjay M, Chong Wui K, Musiek Frank, Williamson Kathleen A, van Heyningen Veronica, Moore Anthony T, Gadian David, Luxon Linda M
Academic Unit of Audiological Medicine, Institute of Child Health, Department of Clinical and Experimental Epilepsy, and Division of Inherited Eye Disease, and Moorfields Eye Hospital, University College London, UK.
Arch Pediatr Adolesc Med. 2007 May;161(5):463-9. doi: 10.1001/archpedi.161.5.463.
To assess auditory processing, hearing difficulties, and brain magnetic resonance (MR) imaging abnormalities in children with panocular developmental aniridia due to PAX6 mutations.
Case-control study.
Great Ormond Street Hospital and Institute of Child Health.
Eleven case subjects with PAX6 mutations and 11 age-matched and sex-matched healthy control subjects.
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.
Brain MR imaging, central auditory test results, and questionnaire scores.
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.
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.
评估因PAX6基因突变导致全眼发育性无虹膜患儿的听觉处理能力、听力障碍及脑磁共振成像异常情况。
病例对照研究。
大奥蒙德街医院和儿童健康研究所。
11例携带PAX6基因突变的病例组受试者以及11例年龄和性别匹配的健康对照组受试者。
所有受试者均完成一份结构化听力问卷、基础听力测定以及中枢听觉测试（双耳分听言语测试、频率和时长模式测试以及噪声间隙测试）。病例组受试者接受了脑磁共振成像及容积测定，并将结果与从放射学和物理科数据库中随机选取的年龄和性别匹配的健康对照组受试者的结果进行比较。
脑磁共振成像、中枢听觉测试结果及问卷得分。
与对照组相比，病例组脑容积测定中胼胝体面积显著更小。在对脑磁共振图像进行视觉检查时（11例中有10例进行了此项检查），10例中有7例前连合较小，3例正常。听力图显示所有儿童均无异常。所有对照组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的病例外，所有病例组的测试结果均异常。病例组在噪声环境中定位声音和理解言语方面比对照组困难更大。
尽管听力图正常，但携带PAX6基因突变的儿童可能存在听觉半球间传递缺陷，并且在噪声环境中定位声音和理解言语存在困难。鉴于他们还存在视觉方面的困难，建议对这些儿童进行全面的听力学评估，以便开展适当的管理。
