Neurogenetics of Autism Spectrum Conditions in Individuals Assigned Female at Birth

Work aimed at characterizing the biological bases of autism has revealed a multiplicity of neural and genetic factors potentially associated with the condition. Combining information from multiple modalities and focusing on a specific, more homogenous subpopulation within the spectrum will help to parse this heterogeneity. In this chapter, we first briefly review major findings regarding the neural and genetic bases of autism broadly speaking, as well as a leading theory related to the etiology of autism, specifically in persons assigned female at birth (the “female protective effect” hypothesis). Thereafter, we discuss existing literature (N = 14 studies identified via systematic review) addressing the intersection of genetic and neural factors in the emergence and expression of autism in individuals assigned female at birth. These reports implicate sex differences in striatal, oxytocinergic, and neuroimmune systems, but further research in independent cohorts is needed to replicate and extend these findings. To conclude, we briefly review ethical considerations related to autism neurogenetic work, particularly concerns raised within the autism community, and provide recommendations for neurogenetic researchers.