Autism spectrum disorder (ASD) is characterized by high population-level heritability and a three-to-one male-to-female ratio that occurs independent of sex linkage. Prior research in a mixed-sex pediatric sample identified neural signatures of familial risk elicited by passive viewing of point light motion displays, suggesting the possibility that both resilience and risk of autism might be associated with brain responses to biological motion. To confirm a relationship between these signatures and inherited risk of autism, we tested them in families enriched for genetic loading through undiagnosed (“carrier”) females. Using functional magnetic resonance imaging, we examined brain responses to passive viewing of point light displays—depicting biological versus non-biological motion—in a sample of undiagnosed adult females enriched for inherited susceptibility to ASD on the basis of affectation in their respective family pedigrees. Brain responses in carrier females were compared to responses in age-, SRS-, and IQ-matched non-carrier-females—i.e., females unrelated to individuals with ASD. We conducted a hypothesis-driven analysis focused on previously published regions of interest as well as exploratory, brain-wide analyses designed to characterize more fully the rich responses to this paradigm. We observed robust responses to biological motion. Notwithstanding, the 12 regions implicated by prior research did not exhibit the hypothesized interaction between group (carriers vs. controls) and point light displays (biological vs. non-biological motion). Exploratory, brain-wide analyses identified this interaction in three novel regions. Post hoc analyses additionally revealed significant variations in the time course of brain activation in 20 regions spanning occipital and temporal cortex, indicating group differences in response to point light displays (irrespective of the nature of motion) for exploration in future studies. We were unable to successfully eye-track all participants, which prevented us from being able to control for potential differences in eye gaze position. These methods confirmed pronounced neural signatures that differentiate brain responses to biological and scrambled motion. Our sample of undiagnosed females enriched for family genetic loading enabled discovery of numerous contrasts between carriers and non-carriers of risk of ASD that may index variations in visual attention and motion processing related to genetic susceptibility and inform our understanding of mechanisms incurred by inherited liability for ASD.

中文翻译：

---

脑功能区分女性携带者和非携带者患自闭症的家族风险

自闭症谱系障碍 (ASD) 的特征是高人口水平遗传率和三比一的男女比例，与性别无关。先前对混合性别儿科样本的研究确定了由被动观察点光运动显示引起的家族风险的神经特征，这表明弹性和自闭症风险可能与大脑对生物运动的反应有关。为了确认这些特征与自闭症遗传风险之间的关系，我们在未确诊（“携带者”）女性的遗传负荷丰富的家庭中对它们进行了测试。使用功能磁共振成像，我们在未确诊的成年女性样本中检查了被动观看点光显示（描绘生物与非生物运动）时的大脑反应，这些样本根据各自家族谱系中的做作而丰富了对 ASD 的遗传易感性。将携带者女性的大脑反应与年龄、SRS 和 IQ 匹配的非携带者女性（即与 ASD 患者无关的女性）的反应进行比较。我们进行了一项假设驱动分析，重点关注先前发表的感兴趣区域以及探索性、全脑分析，旨在更充分地表征对这种范式的丰富反应。我们观察到对生物运动的强烈反应。尽管如此，先前研究涉及的 12 个区域并未表现出假设的群体（携带者与携带者）之间的相互作用。控制）和点光源显示（生物与非生物运动）。探索性的全脑分析在三个新区域中确定了这种相互作用。事后分析还揭示了跨越枕叶和颞叶皮层的 20 个区域的大脑激活时间过程的显着变化，表明群体对点光显示（不考虑运动的性质）的反应存在差异，以便在未来的研究中进行探索。我们无法成功跟踪所有参与者，这使我们无法控制眼睛注视位置的潜在差异。这些方法证实了明显的神经特征，这些特征可以区分大脑对生物和扰乱运动的反应。