Stipancic Kaila L, Yunusova Yana, Campbell Thomas F, Wang Jun, Berry James D, Green Jordan R
Speech and Feeding Disorders Lab, Department of Communication Sciences and Disorders, MGH Institute of Health Professions, Boston, MA, United States.
UB Motor Speech Disorders Lab, Department of Communicative Disorders and Sciences, University at Buffalo, Buffalo, NY, United States.
Front Neurol. 2021 Jun 16;12:664713. doi: 10.3389/fneur.2021.664713. eCollection 2021.
Understanding clinical variants of motor neuron diseases such as amyotrophic lateral sclerosis (ALS) is critical for discovering disease mechanisms and across-patient differences in therapeutic response. The current work describes two clinical subgroups of patients with ALS that, despite similar levels of bulbar motor involvement, have disparate clinical and functional speech presentations. Participants included 47 healthy control speakers and 126 speakers with ALS. Participants with ALS were stratified into three clinical subgroups (i.e., bulbar asymptomatic, bulbar symptomatic high speech function, and bulbar symptomatic low speech function) based on clinical metrics of bulbar motor impairment. Acoustic and lip kinematic analytics were derived from each participant's recordings of reading samples and a rapid syllable repetition task. Group differences were reported on clinical scales of ALS and bulbar motor severity and on multiple speech measures. The high and low speech-function subgroups were found to be similar on many of the dependent measures explored. However, these two groups were differentiated on the basis of an acoustic measure used as a proxy for tongue movement. This study supports the hypothesis that high and low speech-function subgroups do not differ solely in overall severity, but rather, constitute two distinct bulbar motor phenotypes. The findings suggest that the low speech-function group exhibited more global involvement of the bulbar muscles than the high speech-function group that had relatively intact lingual function. This work has implications for clinical measures used to grade bulbar motor involvement, suggesting that a single bulbar measure is inadequate for capturing differences among phenotypes.
了解运动神经元疾病（如肌萎缩侧索硬化症，ALS）的临床变异对于发现疾病机制以及患者间治疗反应的差异至关重要。当前的研究描述了ALS患者的两个临床亚组，尽管延髓运动受累程度相似，但它们在临床和功能性言语表现上却截然不同。参与者包括47名健康对照者和126名ALS患者。根据延髓运动损伤的临床指标，将ALS患者分为三个临床亚组（即延髓无症状组、延髓有症状高言语功能组和延髓有症状低言语功能组）。声学和唇运动学分析来自每个参与者的阅读样本录音和快速音节重复任务。报告了ALS临床量表、延髓运动严重程度以及多项言语测量指标上的组间差异。在许多所探索的相关测量指标上，高言语功能亚组和低言语功能亚组被发现相似。然而，这两组基于用作舌运动替代指标的声学测量而有所区分。本研究支持这样的假设，即高言语功能亚组和低言语功能亚组的差异不仅仅在于总体严重程度，而是构成了两种不同的延髓运动表型。研究结果表明，低言语功能组的延髓肌肉整体受累程度比舌功能相对完整的高言语功能组更严重。这项工作对用于评估延髓运动受累程度的临床测量具有启示意义，表明单一的延髓测量不足以捕捉表型之间的差异。
