GENETIC ASPECTS OF FAMILIAL VOICE AND SPEECH DISORDERS

这个项目的目的是检查风险。 家族性语音、言语表观发生的相关因素 精神错乱。痉挛等发音障碍家族性病例 发音困难、声音颤抖和特发性声带麻痹 在文献中都有报道。我们最近确定了4个 有外展肌痉挛发音困难的家庭，每个家庭有2个或2个以上 有类似形式的外展肌痉挛发音困难的成员。在……里面 所有的，只有女性才会受到影响。偶尔会先患上这种疾病 出现在儿童时期，比典型的零星病例出现得更早 这种混乱的症状。在这两个家庭中，每个家庭都有两个姐妹 而在另外两个家族中，有证据表明 从祖母传给女儿再传给孙女。在……里面 在某些情况下，一名成员主要受绑架者发声的影响 折叠震颤，而另一个有外展肌痉挛发音困难。其他 局灶性肌张力障碍的形式，如斜颈和眼睑痉挛， 只在一个家庭中报告了这种情况。声带的病理生理学 控制障碍包括缺乏内收肌的激活 言语任务，而不是外展肌的过度活动 导致演讲间歇。在过去的一年里我们一直在研究 有声带麻痹的家庭。在某些情况下，这是 伴有轻微的周围神经病变。的类型 主要影响复发的周围神经病变 喉部神经是有意义的。我们正在研究语音处理 可能与两种语言障碍的风险相关的因素， 结结巴巴，杂乱无章。对于设计基因研究来说，它是 重要的是要确定那些从这些疾病中恢复的人 发育障碍不同于那些仍受影响的人 在他们的一生中。结果将帮助我们决定是否 只有那些长期受影响的人才应该被识别为患有 无序。标准化评估和实验测试都是 用于量化语音处理因素的对比 带控制装置。我们正在比较语音学习和生产 知觉、言语知觉和心理声学技能 有家庭成员和无家庭成员的言语自我监控 结巴的或杂乱的。其结果将直接影响到 这些疾病的表观发生的模型，将提供一个 口吃高危人群遗传学研究的理论基础 而且杂乱无章。

The purpose of this project is to examine risk factors involved in the epigenesis of familial voice and speech disorders. Familial cases of voice disorders such as spasmodic dysphonia, voice tremor and idiopathic vocal fold paralysis have been reported in the literature. We have recently ascertained 4 families with abductor spasmodic dysphonia, each with 2 or more members having similar forms of abductor spasmodic dysphonia. In all, only women are affected. The disorder occasionally first appeared in childhood, earlier in life than is typical of sporadic cases of this disorder. In each of two of the families, two sisters were affected while in the other two families there is evidence of vertical transmission from grandmother to daughter to granddaughter. In some cases, one member is affected primarily by abductor vocal fold tremor while another has abductor spasmodic dysphonia. Other forms of focal dystonia, such as torticollis and blepharospasm, were reported in only one family. The pathophysiology of the vocal fold control disorder involves a lack of adductor muscle activation for speech tasks rather than hyperactivity of the abductor muscles causing speech breaks. In the last year we have been examining families with vocal fold paralysis. In some instances this is associated with a mild peripheral neuropathy. The type of peripheral neuropathy that would primarily affect the recurrent laryngeal nerves is of interest. We are examining speech processing factors that may be related to a risk for two speech disorders, stuttering and cluttering. For designing genetic studies it is important to determine whether those who recover from these developmental disorders differ from those who remain affected throughout their lifetime. The results will help us decide whether only those chronically affected should be identified as having the disorder. Both standardized assessment and experimental tests are being used to quantify the speech processing factors in contrast with controls. We are comparing speech learning for production and perception, speech perception and psychoacoustic skills and speech self monitoring in family members with and without familial stuttering or cluttering. The results will have a direct bearing upon the model for epigenesis of these disorders and will provide a theoretical basis for genetic studies of persons at risk for stuttering and cluttering.