Brennan Christine, Matthews Abigail, Tennant Sherri
Department of Speech, Language, and Hearing Sciences, University of Colorado Boulder, 2501 Kittredge Loop Drive, 409 UCB, Boulder, CO 30809-0409, USA.
University of Colorado Boulder, Boulder, CO, USA.
Ther Adv Rare Dis. 2024 Sep 2;5:26330040241275672. doi: 10.1177/26330040241275672. eCollection 2024 Jan-Dec.
Sanfilippo syndrome (Mucopolysaccharidosis Type III or MPS III) is a family of rare, lysosomal disorders characterized by progressive cognitive and motor deterioration. Even though individuals with MPS III present with complex communication needs, research regarding augmentative and alternative communication (AAC) in this population is scarce. While life expectancy for individuals with MPS IIIA typically does not exceed 20 years of age, this case report involves a 22-year-old adult with postregression MPS IIIA. Prior to this study, the participant could not communicate using speech and only responded to yes/no questions using eye blink responses. The participant was given a low-tech AAC system utilizing eye gaze so that she could respond to a variety of caregiver questions and take conversational turns. The following communication outcomes were measured during each session in which caregivers used the AAC system: number of eye gaze responses, total number of responses (using any means), the percent of responses to questions asked, and the total count of expressive vocabulary words available to the participant with the AAC system. Increases were observed in the number of eye gaze responses per session and in the expressive vocabulary accessible via the eye gaze board. A higher percentage of responses given caregiver questions was noted for the intervention sessions (71%) compared to the baseline sessions (55%). There were also qualitative changes characterized by the types of questions the participant could respond to during conversational exchanges. Despite the progression of MPS IIIA, the results suggest that use of the eye gaze board resulted in quantitative and qualitative changes in functional communication. This case report provides preliminary evidence that AAC can improve communication in a young adult with postregression MPS IIIA.
桑菲利波综合征（黏多糖贮积症III型或MPS III）是一类罕见的溶酶体疾病，其特征为进行性认知和运动功能衰退。尽管MPS III患者存在复杂的沟通需求，但针对该人群的辅助和替代沟通（AAC）研究却很匮乏。虽然MPS IIIA患者的预期寿命通常不超过20岁，但本病例报告涉及一名22岁的成年MPS IIIA回归后患者。在本研究之前，该参与者无法通过言语进行沟通，仅能通过眨眼回应是/否问题。为该参与者提供了一个利用目光注视的低技术AAC系统，以便她能够回应各种照护者的问题并进行对话轮流。在照护者使用AAC系统的每个疗程中，对以下沟通结果进行了测量：目光注视回应的数量、回应的总数（使用任何方式）、对所提问题的回应百分比，以及该参与者通过AAC系统可用的表达性词汇总数。观察到每个疗程中目光注视回应的数量以及通过目光注视板可获取的表达性词汇有所增加。与基线疗程（55%）相比，干预疗程中对照护者问题的回应百分比更高（71%）。在对话交流中，参与者能够回应的问题类型也出现了质性变化。尽管MPS IIIA病情在进展，但结果表明使用目光注视板导致了功能性沟通在数量和质量上的变化。本病例报告提供了初步证据，证明AAC可以改善一名年轻成年MPS IIIA回归后患者的沟通能力。
