Female Autism Phenotype

Autism is a set of heterogeneous neurodevelopmental conditions that affect more male than female individuals. Due to the high phenotypic heterogeneity in the autism spectrum, recent studies suggest that sex differences in phenotypic presentation may contribute to this bias. In this chapter, we summarize recent clinical research addressing sex/gender influences in autism and explore how sex/gender-based investigations on the two core symptoms (socio-communication skills and restricted and repetitive interests) might influence phenotypic presentation in autism, leading to definition of clinical female autism phenotype. We review evidence that may help to explain why females are less likely to be identified at all stages of life. Females on the spectrum tend to exhibit better social skills and more circumscribed interests in gender and developmentally normative areas compared to affected boys, contributing to the lower rate of ASD diagnosis in girls, prejudicing them from receiving appropriately targeted health care and early intervention. Understanding and recognizing female autism phenotype are necessary to allow early identification and diagnosis of autistic females and to develop sex/gender-appropriate intervention for ASD.