Vestibular anomalies in CHARGE syndrome:: investigations on and consequences for postural development
Vestibular anomalies in CHARGE syndrome:: investigations on and consequences for postural development
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DOI：
10.1007/s004319900409
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发表时间：
2000-08-01
影响因子：
3.6
通讯作者：
Manac'h, Y
中科院分区：
文献类型：
--
作者：
Abadie, V;Wiener-Vacher, S;Manac'h, Y
最近，前庭异常被描述为患有缺损-心脏-闭锁-生殖器-耳（CHARGE）综合征的儿童的常见特征。他们很可能在影响这些儿童的精神运动迟缓中发挥重要作用。为了检验这一假设，我们前瞻性地对 17 名 CHARGE 综合征患者进行了完整的前庭检查，包括内耳 CT 扫描以及耳道和耳石功能的功能性前庭评估。这些结果与儿童发育过程中观察到的姿势异常相关，表明前庭功能障碍是 CHARGE 综合征的一个持续特征，并且对于确诊具有非常好的敏感性。经常发现半规管异常（94%），通过 CT 扫描很容易检测到，并且与半规管功能评估无反应相关。它们被认为是姿势阶段迟缓的部分原因。前庭功能测试始终异常，但可以检测到大多数患者（94%）的残余耳石功能。该系列的所有儿童都有一种非典型的姿势行为模式，我们认为这与他们的前庭异常有关。残余耳石功能似乎对姿势发育有积极影响。 结论 前庭检查对于 CHARGE 综合征患者的诊断、发育评估和特定康复计划的适应具有重要价值。
Recently, vestibular anomalies have been described as a frequent feature in children with coloboma-heart-atresia-retarded-genital-ear (CHARGE) syndrome. They are likely to play an important role in the psychomotor retardation affecting these children. In order to test this hypothesis, we prospectively performed complete vestibular investigations in a series of 17 CHARGE syndrome patients including inner ear CT scan and functional vestibular evaluation of both canal and otolith functions. These results were correlated with the postural anomalies observed during the children's development and showed that vestibular dysfunction is a constant feature in CHARGE syndrome and has very good sensitivity for confirming the diagnosis. Anomalies of semicircular canals were frequently found (94%), easily detectable on CT scan and associated with no response on canal function evaluation. They were considered as partly responsible for the retardation of postural stages. Vestibular functional tests were consistently abnormal but allowed detection of residual otolith function in most patients (94%). All children of this series had an atypical pattern of postural behaviour that we consider to be related to their vestibular anomalies. Residual otolith function seems to have a positive influence for postural development.Conclusion Vestibular investigations are valuable for diagnosis, developmental assessment, and adaptation of specific rehabilitation programmes in CHARGE syndrome patients.