A Physiologically Integrated Approach to Studying Mechanisms of Speech Production and Swallow Function in Down Syndrome

摘要 唐氏综合症(DS)患者吞咽困难的风险显著增加， 导致吸入食物或液体的相关风险以及可能的肺炎。几乎所有人的演讲 这些人可能很难被不熟悉的听众理解，从而导致能力受到限制 参与几乎所有有价值的活动，从教育到职业、社会、社区和自我宣传 活动。 吞咽和清晰语音的产生都依赖于口语机制的结构和功能 以及他们的神经基础。DS的表型包括一种成熟的谱系 口咽结构和功能的畸形，认知和语言能力的畸形，以及大多数 很可能在神经基质中也是如此。目前对DS患者的吞咽和言语干预主要依赖于 关于推荐的临床实践方法，这些方法是从其他人群(如个人)那里借来的 有语音障碍或失用症。然而，这些人很少出现特定于该综合征的症状 结构和功能口腔咽部和认知/语言畸形可见于大多数(如果不是全部) 患有DS的个体。因此，这些干预措施可能--甚至很可能--不是最佳的 患有DS的个体，因为他们的设计没有考虑到独特的表型特征 在DS中。 对受影响的区域和它们之间的关系进行了生物生理学综合研究 需要了解DS损害的性质并优化临床干预措施。建议数 项目将研究吞咽和言语产生的机制 记录DS的表型特征。具体地说，我们将检查域之间的相互关系 口咽结构、肌肉力量、躯体感觉、认知、知觉和 语言，以及潜在的神经学，就每一种与口腔运动执行的关系而言 吞咽行为和言语产生。研究小组汇集了来自各个国家的专家 计划的域名，全部在同一机构，由职业生涯致力于应用的PI领导 为智力和发育障碍个人提供创新的测量技术，包括 DS.

Abstract Individuals with Down syndrome (DS) have substantively heightened risk of swallowing difficulties, leading to associated risk of aspiration of food or liquid and possible pneumonia. The speech of virtually all of these individuals can be difficult to understand by unfamiliar listeners, leading to restrictions in ability to participate in virtually all valued activities, from educational to vocational, social, community, and self-advocacy activities. Production of both swallow and clear speech rely on the structures and functions of the oral mechanism as well as their neural underpinnings. The phenotype in DS includes a spectrum of well-established dysmorphologies in oral-pharyngeal structures and functions, in cognitive and linguistic abilities, and most likely in neural substrate as well. Current swallow and speech interventions for individuals with DS largely rely on recommended clinical practice approaches that are “borrowed” from other populations, such as individuals with speech sound disorders or apraxia. Yet such individuals rarely present with the syndrome-specific structural and functional oral-pharyngeal and cognitive/linguistic dysmorphologies seen in most if not all individuals with DS. It is possible—even likely— that these interventions may therefore not be optimal for individuals with DS, given that they were not designed to take into consideration the unique phenotypic profiles in DS. A biophysiologically integrated study of the affected domains and the relationships between them is needed to understand the nature of impairments in DS and optimize clinical interventions. The proposed project will examine the mechanisms of swallow and speech production directly within the context of the documented phenotypic characteristics in DS. Specifically, we will examine the interrelations between domains of oropharyngeal structure, muscle strength, somatosensation, measures of cognition, perception and language, and the underlying neurology in terms of how each relates to the execution of the oral motor behaviors of swallow and speech production. The research team brings together experts across each of the planned domains, all at the same institution, led by a PI whose career has been dedicated to application of innovative measurement techniques to individuals with intellectual and developmental disabilities, including DS.