Department of Psychological Sciences, Purdue University, West Lafayette, Indiana.
Speech, Language, & Hearing Sciences, Purdue University, West Lafayette, Indiana.
Autism Res. 2019 Nov;12(11):1663-1679. doi: 10.1002/aur.2176. Epub 2019 Aug 13.
Fragile X syndrome (FXS) is a neurogenetic syndrome characterized by cognitive impairments and high rates of autism spectrum disorder (ASD). FXS is often highlighted as a model for exploring pathways of symptom expression in ASD due to the high prevalence of ASD symptoms in this population and the known single-gene cause of FXS. Early vocalization features-including volubility, complexity, duration, and pitch-have shown promise in detecting ASD in idiopathic ASD populations but have yet to be extensively studied in a population with a known genetic cause for ASD such as FXS. Investigating early trajectories of these features in FXS may inform our limited knowledge of potential mechanisms that predict later social communication outcomes. The present study addresses this need by presenting preliminary findings which (a) characterize early vocalization features in FXS relative to low-risk controls (LRC) and (b) test the specificity of associations between these features and language and ASD outcomes. We coded vocalization features during a standardized child-examiner interaction for 39 nine-month-olds (22 FXS, 17 LRC) whose clinical outcomes were assessed at 24 months. Our results provide preliminary evidence that within FXS, associations between vocalization features and 24-month language outcomes may diverge from those observed in LRC, and that vocalization features may be associated with later ASD symptoms. These findings provide a starting point for more research exploring these features as potential early markers of ASD in FXS, which in turn may lead to improved early identification methods, treatment approaches, and overall well-being of individuals with ASD. Autism Res2019. © 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Although vocal features of 9-month-olds with FXS did not differ from those of low-risk controls, several features were associated with later language and ASD outcomes at 24 months in FXS. These preliminary results suggest acoustic data may be related to clinical outcomes in FXS and potentially other high-risk populations. Further characterizing these associations may facilitate understanding of biological mechanisms and risk factors associated with social communication development and ASD.
脆性 X 综合征 (FXS) 是一种神经遗传综合征，其特征为认知障碍和自闭症谱系障碍 (ASD) 的高发病率。由于 FXS 人群中 ASD 症状的高患病率以及 FXS 已知的单一基因病因，因此 FXS 常被作为探索 ASD 症状表现途径的模型。早期发声特征，包括语速、复杂性、持续时间和音高等，在检测特发性 ASD 人群中的 ASD 方面显示出了一定的前景，但在 FXS 等具有已知遗传病因的 ASD 人群中，这些特征尚未得到广泛研究。研究这些特征在 FXS 中的早期轨迹可能有助于我们了解预测后期社会交流结果的潜在机制。本研究通过提出初步研究结果，满足了这一需求，该结果：(a) 描述了 FXS 中相对于低风险对照 (LRC) 的早期发声特征；(b) 测试了这些特征与语言和 ASD 结果之间的特异性关联。我们为 39 名 9 个月大的婴儿 (22 名 FXS，17 名 LRC) 在标准化的儿童-检查者互动中编码了发声特征，这些婴儿的临床结果在 24 个月时进行了评估。我们的研究结果初步表明，在 FXS 中，发声特征与 24 个月时语言结果之间的关联可能与 LRC 中观察到的不同，并且发声特征可能与后期的 ASD 症状有关。这些发现为进一步探索这些特征作为 FXS 中 ASD 的潜在早期标志物提供了起点，这反过来可能会导致更好的早期识别方法、治疗方法和 ASD 患者的整体幸福感。自闭症研究 2019. © 2019 国际自闭症研究协会，威利在线期刊，公司。 概述：尽管 FXS 婴儿 9 个月大时的发声特征与低风险对照组没有差异，但 FXS 中 24 个月时的几个特征与后期语言和 ASD 结果相关。这些初步结果表明，声学数据可能与 FXS 中的临床结果以及其他高危人群有关。进一步描述这些关联可能有助于理解与社会沟通发展和 ASD 相关的生物学机制和风险因素。
