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克服适应性功能学习前提条件中的挑战:针对雷特综合征年轻女孩的远程康复治疗

Overcoming Challenges in Learning Prerequisites for Adaptive Functioning: Tele-Rehabilitation for Young Girls with Rett Syndrome.

作者信息

Fabio Rosa Angela, Giannatiempo Samantha, Perina Michela

机构信息

Department of Biomedical, Dental and Morphological and Functional Imaging Sciences, University of Messina, 98123 Messina, Italy.

Airett Centre for Research and Innovation, 37100 Verona, Italy.

出版信息

J Pers Med. 2025 Jun 14;15(6):250. doi: 10.3390/jpm15060250.

Abstract

: Rett Syndrome (RTT) is a rare neurodevelopmental disorder that affects girls and is characterized by severe motor and cognitive impairments, the loss of purposeful hand use, and communication difficulties. Children with RTT, especially those aged 5 to 9 years, often struggle to develop the foundational skills necessary for adaptive functioning, such as eye contact, object tracking, functional gestures, turn-taking, and basic communication. These abilities are essential for cognitive, social, and motor development and contribute to greater autonomy in daily life. This study aimed to explore the feasibility of a structured telerehabilitation program and to provide preliminary observations of its potential utility for young girls with RTT, addressing the presumed challenge of engaging this population in video-based interactive training. The intervention consisted of 30 remotely delivered sessions (each lasting 90 min), with assessments at baseline (A), after 5 weeks (B1), and after 10 weeks (B2). Quantitative outcome measures focused on changes in eye contact, object tracking, functional gestures, social engagement, and responsiveness to visual stimulus. The findings indicate that the program was feasible and well-tolerated. Improvements were observed across all measured domains, and participants showed high levels of engagement and participation throughout the intervention. While these results are preliminary, they suggest that interactive digital formats may be promising for supporting foundational learning processes in children with RTT. This study provides initial evidence that telerehabilitation is a feasible approach for engaging young girls with RTT and supporting adaptive skill development. These findings may inform future research and the design of controlled studies to evaluate the efficacy of technology-assisted interventions in this population.

摘要

雷特综合征(RTT)是一种罕见的神经发育障碍,影响女童,其特征为严重的运动和认知障碍、失去有目的的手部使用能力以及沟通困难。患有雷特综合征的儿童,尤其是5至9岁的儿童,往往难以发展适应性功能所需的基础技能,如眼神交流、物体追踪、功能性手势、轮流互动和基本沟通。这些能力对于认知、社交和运动发展至关重要,并有助于在日常生活中获得更大的自主性。本研究旨在探讨结构化远程康复计划的可行性,并对其对患有雷特综合征的年轻女童的潜在效用提供初步观察结果,解决让这一群体参与基于视频的互动训练这一假定挑战。干预包括30次远程授课(每次持续90分钟),在基线(A)、5周后(B1)和10周后(B2)进行评估。定量结果测量集中在眼神交流、物体追踪、功能性手势、社交参与和对视觉刺激的反应性变化上。研究结果表明该计划可行且耐受性良好。在所有测量领域均观察到改善,并且参与者在整个干预过程中表现出高度的参与度。虽然这些结果是初步的,但它们表明交互式数字形式可能有望支持患有雷特综合征儿童的基础学习过程。本研究提供了初步证据,表明远程康复是让患有雷特综合征的年轻女童参与并支持适应性技能发展的可行方法。这些发现可能为未来的研究以及评估该人群技术辅助干预效果的对照研究设计提供参考。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6f2a/12194260/4325d0d1fbaa/jpm-15-00250-g002.jpg

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