对患有神经遗传疾病的儿童进行综合征知情早期干预的考虑。

4区 医学 Q3 Medicine
Silvia Lanfranchi, Sara Onnivello, Madison Walsh, Sara Colaianni, Miranda Pinks, Chiara Marcolin, Kaylyn Van Deusen, Benedetta Ceci, Nathaniel R Riggs, Elisa Rossi, Lisa Daunhauer, Francesca Pulina, Deborah J Fidler
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引用次数: 0

摘要

关于神经遗传条件下强度和挑战表型模式早期出现的新见解提供了个性化、预期干预方法的可能性。然而,新型“综合征知情”干预措施的发展应结合原则,使干预活动对尽可能多的患有特定神经遗传疾病的儿童的效用最大化。本综述审查了其中的几个方面,包括使用社区参与的框架来确保新干预措施的可行性和可接受性;发展跨国有效的方法,可以很容易地翻译成其他语言和文化背景;使用适应性干预设计,允许根据关键的儿童维度定制干预途径。在EXPO的背景下,提出了一个使用这些原则的案例,EXPO是一种为患有唐氏综合症的幼儿设计的新型执行功能干预。讨论了对未来干预发展的影响。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Considerations for developing syndrome-informed early interventions for children with neurogenetic conditions.

New insights regarding the early emergence of phenotypic patterns of strength and challenge in neurogenetic conditions afford the possibility of personalized, anticipatory intervention approaches. The development of novel 'syndrome-informed' interventions, however, should incorporate principles that will maximize the utility of intervention activities for as many children with a given neurogenetic condition as possible. This review examines several of these dimensions, including the use of community-engaged frameworks to ensure feasibility and acceptability of novel interventions; the development of cross-nationally valid approaches that can be readily translated into other languages and cultural contexts; and the use of adaptive interventions designs that allow for the tailoring of intervention pathways based on key child dimensions. A case example of the use of these principles is presented in the context of EXPO, a novel executive function intervention designed for young children with Down syndrome. Implications for future intervention development are discussed.

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