Article

Sex and Gender Differences in Autism

Autism spectrum disorder (ASD) shows notable differences between males and females in prevalence, presentation, and diagnosis. Understanding these differences is important for accurate diagnosis, support, and research.

Prevalence and Genetics

  • Males are diagnosed with autism about three times more often than females. This is partly due to genetic factors, such as X-chromosome genes (e.g., NLGN4X), and partly due to diagnostic biases.
  • Females may be underdiagnosed because they often present with less obvious or different behavioral traits and may camouflage (mask) their autistic characteristics.
  • Genomic imprinting and other epigenetic mechanisms also contribute to sex differences in autism. See Epigenetics of autism and Genomic imprinting.

Clinical Presentation

  • Females with autism are more likely to have co-occurring intellectual disability or other conditions.
  • Social camouflaging is more common in autistic girls and women, which can delay or obscure diagnosis.
  • Research suggests that some genetic mutations have higher penetrance in males, while females may require a higher genetic load to show autistic traits (the "female protective effect").

Implications for Support and Research

  • Recognition of sex and gender differences is leading to more tailored diagnostic criteria and support strategies.
  • Neurodiversity-affirming approaches emphasize the importance of understanding and supporting diverse presentations of autism across genders.

Related Topics

References

This page summarizes sex and gender differences in autism, including genetic, epigenetic, and clinical aspects. For more on neurodiversity and related conditions, see the linked entries.