Abstract
BackgroundAutism 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.MethodsUsing 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.ResultsWe 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.LimitationsWe were unable to successfully eye-track all participants, which prevented us from being able to control for potential differences in eye gaze position.ConclusionsThese 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.
Highlights
Autism spectrum disorder (ASD) is characterized by high population-level heritability and a threeto-one male-to-female ratio that occurs independent of sex linkage
Eggebrecht et al Molecular Autism (2020) 11:82 and motion processing related to genetic susceptibility and inform our understanding of mechanisms incurred by inherited liability for ASD
Discussion we aimed to investigate whether previously reported neural signatures of familial risk of ASD—elicited by passive viewing of point light displays of biological motion—were related to carrier status for elevation in family genetic risk of ASD
Summary
Autism spectrum disorder (ASD) is characterized by high population-level heritability and a threeto-one male-to-female ratio that occurs independent of sex linkage. One important characteristic of ASD is the striking 3:1 male/female sex ratio [10, 11] that has been observed both across and within families affected by ASD. This sexual dimorphism is especially remarkable given that the extant genetic variants implicated in ASD are overwhelmingly autosomal and involve multiple distinct regions of the genome, and the sets of genetic susceptibility factors associated with ASD in males lack consistent differences with those in females with ASD [12,13,14]
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