Emergence and Stability of Autism in Fragile X Syndrome

 描述(由申请人提供)：自闭症谱系障碍(ASD)是一种毁灭性的和常见的神经发育障碍，是一个主要的公共卫生问题。脆性X综合征是导致自闭症的主要遗传因素，脆性X综合征和FMR1基因突变与自闭症密切相关，分别有70%和20%的人符合DSM标准。这项建议扩展了我们最初的研究，即脆性X自闭症的出现和稳定性，重点是6、9、12和24个月时患有脆性X综合征和脆性X预突变的婴儿的行为症状和ASD风险的生物标记物，并与特发性ASD儿童和典型对照的兄弟姐妹进行对照。这项建议代表了我们158名婴儿参与者在3岁、4岁和5岁时的纵向监测。我们的初步发现引发了一系列新的问题，以增强我们对ASD特征、诊断和相关特征在FXS和FXPM中的出现的知识，包括ASD诊断FXPM的流行率和稳定性，ASD核心特征在整个连续体中的稳定性，作为附加或独立关联特征的非典型注意和社交恐惧的关联，以及婴儿衍生的前驱特征对学龄前儿童ASD诊断的预测价值。

 DESCRIPTION (provided by applicant): Autism spectrum disorder (ASD) is a devastating and common neurodevelopmental disorder and a major public health concern. Fragile X syndrome is the leading known genetic cause of autism, and both fragile X syndrome and the FMR1 premutation are highly associated with autism with ~70% and ~20% meeting DSM- criteria respectively. This proposal extends our initial study, Emergence and Stability of Autism in Fragile X, focused on behavioral symptoms and biomarkers of ASD risk in infants with fragile X syndrome and fragile X premutation at 6,9,12 and 24 months contrasted to siblings of children with idiopathic ASD and typical controls. This proposal represents longitudinal surveillance at 3, 4 and 5 years-of-age in our cohort of 158 infant participants. Our initial findings have fueled a new set of questions to enhance our knowledge of the emergence of ASD features, diagnoses and associated features in FXS and FXpm, including the prevalence and stability of ASD diagnoses FXpm, the stability of ASD core features focused across a continuum, the association of atypical attention and social fear as additive or independent associated features and the predictive value of infant-derived prodromal features to ASD diagnoses across preschool.