Diagnostic Distortions: A Case Report of Progressive Apraxia of Speech
Diagnostic Distortions: A Case Report of Progressive Apraxia of Speech
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DOI：
10.3233/jad-160069
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发表时间：
2016-01-01
影响因子：
4
通讯作者：
Vogel, Adam P.
中科院分区：
文献类型：
--
作者：
Brodtmann, Amy;Pemberton, Hugh;Vogel, Adam P.
言语失用症（AOS）可以是神经退行性疾病的主要症状。原发性进行性AOS在痴呆疾病分类学中的地位仍有争议。尽管看过许多专家，但患者经常被误诊，部分原因是缺乏言语功能障碍的定量测量。我们提出了一个单一的病例报告的病人提出与AOS，包括声学分析，语言评估和脑成像。一名52岁的妇女提出了AOS仍然未确诊为6年，尽管看到8个专家。她的核磁共振扫描，基因检测和计算机语音分析的结果提供。AOS是一种未被诊断的临床综合征，给患者和家属带来了巨大的痛苦。使用语音的声学分析可能会提高诊断的准确性。AOS是一个具有扩展表型的复杂实体，定量临床测量对于检测和评估进展至关重要。
Apraxia of speech (AOS) can be the presenting symptom of neurodegenerative disease. The position of primary progressive AOS in the nosology of the dementias is still controversial. Despite seeing many specialists, patients are often misdiagnosed, in part due to a lack of quantitative measures of speech dysfunction. We present a single case report of a patient presenting with AOS, including acoustic analysis, language assessment, and brain imaging. A 52-year-old woman presenting with AOS had remained undiagnosed for 6 years despite seeing 8 specialists. Results of her MRI scans, genetic testing, and computerized speech analysis are provided. AOS is an underdiagnosed clinical syndrome causing great distress to patients and families. Using acoustic analysis of speech may lead to improved diagnostic accuracy. AOS is a complex entity with an expanding phenotype, and quantitative clinical measures will be critical for detection and to assess progression.