定量研究与 SPG11 纯合突变相关的常染色体隐性遗传性痉挛性截瘫的塞浦路斯家系中的构音障碍
Quantification of dysarthrοphonia in a Cypriot family with autosomal recessive hereditary spastic paraplegia associated with a homozygous SPG11 mutation.
机构信息
European University Cyprus, 6 Diogenous Street, Engomi, 2404, P.O. Box 22006, 1516, Nicosia, Cyprus.
Neurology Clinic D, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
出版信息
Neurol Sci. 2018 Sep;39(9):1547-1550. doi: 10.1007/s10072-018-3453-8. Epub 2018 May 26.
BACKGROUND
Dysarthrophonia is often reported by hereditary spastic paraplegia (HSP) patients with SPG11 mutations but it has been poorly investigated.
OBJECTIVE
The goal of this study was to investigate dysarthrophonia in SPG11 patients using quantitative measures. The voice/speech of two patients and a non-affected mutation carrier was recorded and analyzed using electroglottography (EGG) and speech acoustics.
RESULTS
Dysarthrophonia showed a higher standard deviation of the average fundamental frequency, a three to eight times higher jitter, a 80-110 Hz higher mean fundamental frequency, and a two times higher fundamental frequency range. Diadochokinesis showed a pattern of a two to three times increase in the mean duration of the release burst of the phonemes /p/, /t/, /k/ as well as a 1.5 time increase in the mean vowel duration of the syllables /pa/, /ta/, /ka/.
CONCLUSION
Non-invasive physiological methods (EGG and speech acoustics) offer essential tools for the assessment of dysarthrophonia in SPG11 patients.
背景
遗传性痉挛性截瘫（HSP）伴 SPG11 突变患者常报告存在构音障碍，但对此研究甚少。
目的
本研究旨在使用定量测量方法研究 SPG11 患者的构音障碍。对两名患者和一名未受影响的突变携带者的语音进行了记录和电声门图（EGG）及语音声学分析。
结果
构音障碍显示出更高的基频平均值标准差、3 至 8 倍的更高抖动、80-110 Hz 的更高基频平均值和两倍的基频范围。弹舌音显示出/pa/、/ta/、/ka/等音的释放爆发的平均时长增加 2-3 倍以及元音时长增加 1.5 倍的模式。
结论
非侵入性生理方法（EGG 和语音声学）为评估 SPG11 患者的构音障碍提供了重要工具。
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