Neural Phenotypes of Females with Autism Spectrum Disorder

患有自闭症谱系障碍的女性的神经表型

• 批准号: 8749078
• 负责人: Christine Wu Nordahl
• 金额: $ 69.03万
• 依托单位: UNIVERSITY OF CALIFORNIA AT DAVIS
• 依托单位国家: 美国
• 财政年份: 2014
• 资助国家: 美国
• 起止时间: 2014-07-10 至 2019-04-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8749078
• 关键词: 3 year old; Adolescence; Affect; Age; Age-Years; Amygdaloid structure; Attenuated; Autistic Disorder; Autoantibodies; Behavior; Behavior assessment; Behavioral; Biological; Brain; Brain region; Child; Childhood; Comorbidity; Data; Development; Diagnosis; Diffusion; Disease; Dorsal; Enrollment; Environmental Risk Factor; Equilibrium; Etiology; Evaluation; Female; Fusiform gyrus; Genes; Genetic; Genetic Load; Goals; Growth; Heterogeneity; High Prevalence; Image; Individual; Institutes; Insulin-Dependent Diabetes Mellitus; Investigation; Life; Magnetic Resonance Imaging; Malignant Childhood Neoplasm; Medial; Megalencephaly; Mission; Modeling; Neurons; Nursery Schools; Outcome; Participant; Phenotype; Prefrontal Cortex; Prevalence; Recruitment Activity; Relative (related person); Research; Research Domain Criteria; Rest; Sample Size; Sampling; Sex Bias; Sex Characteristics; Sex Ratio; Strategic Planning; Structure of superior temporal sulcus; Subgroup; System; Time; United States; United States National Institutes of Health; Variant; Ventral Striatum; Weight; Women' s Health; Work; aged; autism spectrum disorder; base; behavior test; boys; cohort; girls; leukemia; male; meetings; neuropathology; phenome; programs; protective effect; public health relevance; relating to nervous system; research study; sex; sexual dimorphism; social communication; social communication impairment; white matter

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.

描述（由申请人提供）：在美国，每 88 名儿童中就有 1 人患有自闭症谱系障碍 (ASD)，但这种疾病在男孩中比在女孩中更常见。男孩自闭症谱系障碍（ASD）患病率是女孩的 5 倍，男孩的患病率为每 54 人中有 1 人，每 54 人中有 1 人患有自闭症谱系障碍（ASD）。 252 适合女孩。尽管这种不同的性别比例是自闭症谱系障碍研究中重复性最高的发现之一，但对自闭症谱系障碍的性别差异仍然知之甚少。女性自闭症谱系障碍的神经病理学尚未得到充分研究，因为用于研究的自闭症谱系障碍样本通常反映了该疾病的强烈男性偏见。本研究的目的是评估一个性别平衡的大型学龄前自闭症儿童队列，以阐明自闭症女性的神经表型，并确定自闭症神经病理学的性别差异。儿童将在诊断时（2-3岁）入组并进行为期两年的纵向随访。将在研究入组时进行成像，然后在另外两个年度时间点进行两次行为测试，与第一个和第三个 MRI 时间点结合进行。成像将包括结构、弥散加权和静息状态功能连接，以实现以下目标：1) 评估自闭症谱系障碍核心缺陷背后的神经系统中的性别差异 2) 研究这些群体中大脑生长轨迹的性别差异 神经系统；3) 识别不同神经表型亚群与病因因素或行为结果之间的关联。国家对自闭症谱系障碍的女性表型的全面了解是一个紧迫而及时的课题，国家为此课题开展的研究工作表明了这一点。该研究计划响应机构间自闭症协调委员会 (IACC) 评估患有自闭症谱系障碍的女性的战略计划，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、失调和状况相关的研究。