Impact of Child and Maternal Gestures on Word Learning in Fragile X Syndrome

项目摘要 脆性X综合征(FXS)是导致智力残疾的主要遗传性原因，也是最常见的 自闭症谱系障碍(ASD)常见的单基因致病因素。脆性X综合征患者 (FXS)在整个生命过程中，典型的与口语作斗争。第一个单词不会出现 直到FXS大约26个月，与通常发育中的孩子相比，这是一个很大的延迟 他们的第一句话要早得多，大约12个月左右。语言前的交流技巧--眼睛的使用-- 凝视、发声和手势，以传达他人的需求和愿望--在说话之前 语言，但现有的FXS研究并没有前瞻性地研究这种联系，因为第一个词正在出现。 对于患有FXS的儿童来说，手势的使用是一项特别重要的语言前技能。现有的研究在 FXS已经揭示了儿童使用手势的障碍，但到目前为止还没有研究检查两者之间的联系 手势的使用和第一个单词的开头具有前瞻性。当孩子们对着物体打手势时，成年人通常 给物体贴上标签，为学习单词创造了丰富的机会。儿童单词学习也得到了 母亲的手势，这提供了一个明确的联系之间的单词和它的指称。一 支持单词学习的特别有效的策略可能是使用母性手势并结合后续 点评，由孩子的注意力集中引导高质量的输入。然而，儿童和儿童在一定程度上 母亲的手势改善了患有FXS的幼儿的口语词汇量增长，目前尚不清楚。因此，我们建议 (1)确定FXS幼儿的手势使用与母体语言输入之间的关联，(2) 确定母亲的手势和语言输入与儿童FXS儿童词汇使用的关联，以及 (3)确定儿童手势和母体手势以及响应性母体语言的独特贡献 一年内FXS对幼儿口语词汇增长的影响。患有FXS的幼儿和他们的 从孩子18岁开始，生母将在一年内完成三项评估 还有24个月。既是结构化的考官管理的观察，也是自然主义的母子自由游戏 将被用来测量儿童手势使用、儿童词汇以及母亲手势使用和语言 输入。长期目标是为这些儿童制定早期语言干预措施。生成的数据 该项目将为制定干预提案提供经验支持，该提案将 指导家长如何(A)提高手势使用频率，(B)调整手势 与语言输入配合使用，以促进儿童的单词学习、产出练习和口语 词汇量增长。最终，这些知识将对以下方面的长期沟通结果产生积极影响 患有FXS的个人。

PROJECT ABSTRACT Fragile X syndrome (FXS) is the leading inherited genetic cause of intellectual disability and the most common known single-gene cause of autism spectrum disorder (ASD). Individuals with fragile X syndrome (FXS) characteristically struggle with spoken language throughout the life course. First words do not appear until around 26 months in FXS, a substantial delay in comparison to typically developing children who produce their first words significantly earlier around 12 months. Pre-linguistic communication skills—the use of eye- gaze, vocalizations, and gestures to communicate needs and wants to another person—precede spoken language, but the extant studies in FXS have not examined this link prospectively, as first words are emerging. For children with FXS, gesture use is a particularly important pre-linguistic skill to explore. Existing research in FXS has revealed impairments in child gesture use, but no studies to date have examined the link between gesture use and the onset of first words prospectively. When children gesture at objects, adults commonly label the objects, creating rich opportunities for word learning. Child word learning is also supported by mother’s inclusion of a gesture, which provides a clear connection between the word and its referent. One particularly effective strategy to support word learning may be maternal gesture use combined with follow-in commenting, high quality input guided by the child’s attentional focus. However, the extent to which child and maternal gestures improve spoken vocabulary growth in toddlers with FXS is not known. Thus, we propose to (1) determine the association between child gesture use and maternal language input in toddlers with FXS, (2) determine the association of maternal gesture and language input with child word use in toddler with FXS, and (3) determine the unique contribution of child gesture and maternal gesture and responsive maternal language input on child spoken vocabulary growth in toddlers with FXS over a 1-year period. Toddlers with FXS and their biological mothers will complete three assessments over a 1-year period starting when the child is between 18 and 24 months. Both a structured examiner-administered observation and a naturalistic mother-child free play will be administered to measure child gesture use, child vocabulary, and maternal gesture use and language input. The long-term goal is to develop early language interventions for these children. The data generated from this project will provide the empirical support for the development of an intervention proposal that will provide parents with instruction on how to (a) increase the frequency of their gestures, and (b) align gesture use with language input in ways that promote children’s word learning, production practice, and spoken vocabulary growth. Ultimately, this knowledge will positively impact long-term communication outcomes for individuals with FXS.