Sex/gender differences in neurology and psychiatry: Autism

Autism is a heterogenous set of early-onset neurodevelopmental conditions that are more prevalent in males than in females. Due to the high phenotypic, neurobiological, developmental, and etiological heterogeneity in the autism spectrum, recent research programs are increasingly exploring whether sex- and gender-related factors could be helpful markers to clarify the heterogeneity in autism and work toward a personalized approach to intervention and support. In this chapter, we summarize recent clinical and neuroscientific research addressing sex/gender influences in autism and explore how sex/gender-based investigations shed light on similar or different underlying neurodevelopmental mechanisms of autism by sex/gender. We review evidence that may help to explain some of the underlying sex-related biological mechanisms associated with autism, including genetics and the effects of sex steroid hormones in the prenatal environment. We conclude that current research points toward coexisting quantitative and, perhaps more evidently, qualitative sex/gender-modulation effects in autism across multiple neurobiological aspects. However, converging findings of specific neurobiological presentations and sex/gender-informed mechanisms cutting across the many subgroups within the autism spectrum are still lacking. Future research should use big data approaches and new stratification methods to decompose sex/gender-related heterogeneity in autism and work toward personalized, sex/gender-informed intervention and support for autistic people.