Neural Phenotypes of Females with Autism Spectrum Disorder

描述(由申请人提供)：自闭症谱系障碍(ASD)在美国每88个儿童中就有一个受到影响，但这种障碍在男孩中比在女孩中更常见。男孩的自闭症患病率是女孩的5倍，男孩和女孩的患病率分别为1/54和1/54 252美元给女孩。尽管这种不同的性别比例是ASD研究中重复最多的发现之一，但ASD的性别差异仍然知之甚少。女性ASD的神经病理学研究不足，因为为研究招募的ASD样本通常反映出这种疾病的强烈男性偏见。这项研究的目的是评估一个大的、性别平衡的ASD学龄前儿童队列，以阐明ASD女性患者的神经表型，并确定ASD神经病理学中的性别差异。儿童将在确诊时(2-3岁)登记，并纵向跟踪两年。成像将在研究登记时进行，然后在另外两个年度时间点进行两次行为测试，连同第一个和第三个MRI时间点成像将包括结构、弥散加权和静息状态功能连接，以实现以下目的：1)评估导致ASD核心缺陷的神经系统的性别差异；2)调查这些神经系统中大脑生长轨迹的性别差异；3)确定不同神经表型亚组与病因因素或行为结果之间的联系。对自闭症女性表型的全面了解是一个紧迫和及时的主题，正如国家努力引导这一主题的研究所表明的那样。这项研究计划响应了机构间自闭症协调委员会(IACC)评估患有自闭症的女性的战略计划，以及NIH妇女健康研究办公室的使命，即加强和加强与影响女性的疾病、障碍和状况有关的研究。

DESCRIPTION (provided by applicant): Autism spectrum disorder (ASD) affects 1 in 88 children in the United States, but the disorder is much more common in boys than in girls. The prevalence of ASD in boys is 5 times higher than in girls, with a rate of 1 in 54 for boys and 1 in 252 for girls. Although this disparate sex ratio is among the most highly replicated findings in studies of ASD, sex differences in ASD remain poorly understood. The neuropathology of ASD in females is understudied because ASD samples recruited for research studies typically reflect the strong male bias of the disorder. The goal of this study is to evaluate a large, sex-balanced cohort of preschool-aged children with ASD in order to elucidate the neural phenotypes of females with ASD and to identify sex-differences in the neuropathology of ASD. Children will be enrolled at the time of diagnosis (2-3 years of age) and followed longitudinally for two years. Imaging will be carried out at study enrolment and then at two additional annual time points and behavioral testing will be conducted twice, in conjunction with the first and third MRI time points Imaging will include structural, diffusion-weighted and resting state functional connectivity in order to accomplish the following aims: 1) to evaluate sex differences in the neural systems that underlie core deficits in ASD 2) to investigate sex differences in brain growth trajectories in these neural systems and 3) to identify associations between distinct neural phenotypic subgroups and etiologic factors or behavioral outcomes. A comprehensive understanding of the female phenotype of ASD is a pressing and timely topic, as indicated by national efforts to direct research towards this topic. This program of research responds to the Interagency Autism Coordinating Committee (IACC) strategic plan to evaluate females with ASD as well as the mission of the NIH Office of Research on Women's Health to strengthen and enhance research related to diseases, disorders and conditions that affect females.