Sex differences in autism spectrum disorders

By Donna M. Werling, Daniel H. Geschwind. Current Opinion in Neurology, 2013

1,122 citations recorded by the source corpus.

Purpose of review A strong male bias in autism spectrum disorder (ASD) prevalence has been observed with striking consistency, but no mechanism has yet to definitively account for this sex difference. Toward the pursuit of a more complete understanding of the biological basis for sex-differential risk, this review explores the current status of epidemiological, genetic, and neuroendocrinological work addressing ASD prevalence and liability in males and females. Recent findings Recent studies continue to report a male bias in ASD prevalence, but also suggest that sex differences in phenotypic presentation, including fewer restricted and repetitive behaviors and externalizing behavioral problems in females, may contribute to this bias. Genetic studies demonstrate that females are protected from the effects of heritable and de novo ASD risk variants, and compelling work suggests that sex chromosomal genes and/or sex hormones, especially testosterone, may modulate the effects of genetic variation on the presentation of an autistic phenotype. Summary ASDs affect females less frequently than males, and several sex-differential genetic and hormonal factors may contribute. Future work to determine the mechanisms by which these factors confer risk and protection to males and females is essential.

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Citations in the corpus

Prevalence of autism spectrum disorder among children aged 8 years - autism and developmental disabilities monitoring network, 11 sites, United States, 2010. (2014, background): “No data are available to support possible etiologic implications for these differences, including the sex difference (20).”
The Changing Epidemiology of Autism Spectrum Disorders (2016, background): “Approximately four males are affected with ASD for every female, though the sex ratio appears to decrease with increasing severity (190).”
Sex/Gender Differences and Autism: Setting the Scene for Future Research (2015, methodology): “Owing to the major role of genetics,(96) most models concern genetic liability and are tested by population genetic studies, although broadened etiological models have also been proposed.(97) There are at least 4”