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

研究唐氏综合症的言语产生和吞咽功能机制的生理学综合方法

• 批准号: 10657309
• 负责人: KRISTA M WILKINSON
• 金额: $ 195.91万
• 依托单位: PENNSYLVANIA STATE UNIVERSITY, THE
• 依托单位国家: 美国
• 财政年份: 2023
• 资助国家: 美国
• 起止时间: 2023-04-15 至 2028-03-31
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10657309
• 关键词: Adult; Advocacy; Affect; Apraxias; Behavioral; Brain; Characteristics; Child; Choking; Clinical; Clinical assessments; Cognition; Cognitive; Communities; Complex; Coughing; Dedications; Deglutition; Deglutition Disorders; Development; Disease; Down Syndrome; Dysmorphology; Eating; Education; Food; Health; Impairment; Individual; Institution; Intellectual functioning disability; Intervention; Jaw; Knowledge; Language; Linguistics; Link; Lip structure; Liquid substance; Maps; Measurement; Measures; Medical; Methods; Nature; Neurology; Oral; Oropharyngeal; Outcome; Pattern; Perception; Persons; Pharyngeal structure; Phenotype; Physiological; Pneumonia; Population; Production; Recommendation; Research; Rest; Risk; Sensory; Speech; Speech Intelligibility; Speech Sound; Structure; Syndrome; Techniques; Tongue; Translating; Treatment Efficacy; Visit; Vocation; Vocational Education; aspirate; behavior influence; brain based; career; clear speech; clinical practice; disability; experience; improved; innovation; motor behavior; muscle strength; neural; oral motor; patient population; personalized intervention; sensory feedback; skills; social; success; virtual

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.

摘要 患有唐氏综合征（DS）的个体具有显著增加的吞咽困难的风险， 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，导致能力的限制， 参加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腔机制的结构和功能 以及它们的神经基础。DS中的表型包括一系列公认的 口咽结构和功能，认知和语言能力，以及大多数 可能也存在于神经基质中目前对DS患者的吞咽和言语干预主要依赖于 从其他人群（如个人）“借用”的推荐临床实践方法 有语音障碍或失用症。然而，这些人很少出现症状特异性 结构和功能性口咽和认知/语言畸形在大多数（如果不是全部） 个人DS因此，这些干预措施有可能-甚至很可能-不是最佳的， DS个体，因为其设计未考虑独特的表型特征 在DS。 一个生物生理学的综合研究受影响的领域和它们之间的关系是 需要了解DS损伤的性质并优化临床干预措施。拟议 该项目将研究吞咽和语音生产的机制，直接在上下文中， DS中记录的表型特征。具体来说，我们将研究域之间的相互关系 口咽结构，肌肉力量，躯体感觉，认知，感知和 语言，以及潜在的神经学，就每一个如何与口腔运动的执行相关而言， 吞咽行为和言语产生。该研究小组汇集了来自世界各地的专家， 计划的领域，都在同一个机构，由PI领导，其职业生涯一直致力于应用 创新的测量技术，智力和发育障碍的个人，包括 DS.