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.

抽象的 患有唐氏综合症（DS）的个体吞咽困难的风险大大增加， 导致食物或液体和可能的肺炎的相关风险。几乎所有的讲话 这些人很难被陌生的听众理解，从而限制了 参加几乎所有有价值的活动，从教育到出版商，社会，社区和自我顾问 活动。 吞咽和清晰语音的产生取决于口服机制的结构和功能 以及他们的神经基础。 DS中的表型包括一系列已建立的范围 口腔 - 咽结构和功能，认知和语言能力中的运动障碍，大多数 也可能在神经底物中。目前针对DS个人的吞咽和语音干预很大程度上依赖 根据建议的临床实践方法，这些方法是从其他人群中“借”的，例如个人 言语障碍或失用。然而，这样的个体很少与综合征特异性 在大多数（如果不是全部）中，结构和功能性的口腔咽和认知/语言畸形学 患有DS的人。因此，这些干预措施可能并非最佳 鉴于他们的设计并非旨在考虑到独特的表型特征 在DS中。 对受影响领域及其之间关系的生物生理综合研究是 需要了解DS中损伤的性质并优化临床干预措施。提议 项目将直接在 DS中的表型特征有记录。具体而言，我们将检查域之间的相互关系 口咽结构，肌肉力量，体质，认知措施，感知和 语言和潜在的神经病学在每个语言与口服电机的执行方面之间的关系 吞咽和言语产生的行为。研究小组汇集了每个人的专家 在同一机构的计划领域。 对具有智力和发育障碍的人的创新测量技术，包括 DS。