Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2013 Apr;26(2):146-53.
doi: 10.1097/WCO.0b013e32835ee548.

Sex differences in autism spectrum disorders

Donna M Werling  1 , Daniel H Geschwind
Affiliations
Review

Sex differences in autism spectrum disorders

Donna M Werling et al. Curr Opin Neurol. 2013 Apr.

Abstract

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. This review explores the current status of epidemiological, genetic, and neuroendocrinological work addressing ASD prevalence and liability in males and females, so as to frame the major issues necessary to pursue a more complete understanding of the biological basis for sex-differential risk.

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.

PubMed Disclaimer

Figures

Figure 1
Figure 1
Multifactorial liability models for ASDs. A) Multiple-threshold model in which genetic liability for ASD is normally distributed in the population and the minimum genetic liability sufficient to cause ASD (liability threshold) in females is greater than in males. B) Multifactorial liability model in which total liability for ASD, including contributions from genetic variation, environment, and other biological factors, is distributed in the population; female-specific factors shift females’ total liability distribution away from, and male-specific factors shift males’ distribution toward, a single threshold. Figure adapted from Reich et al. [31]
See this image and copyright information in PMC

References

    1. Whitacre CC. Sex differences in autoimmune disease. Nat Immunol. 2001;2(9):777–80. - PubMed
    1. Szatmari P, Offord DR, Boyle MH. Ontario Child Health Study: prevalence of attention deficit disorder with hyperactivity. J Child Psychol Psychiatry. 1989;30(2):219–30. - PubMed
    1. Barbaresi WJ, Katusic SK, Colligan RC, et al. How common is attention-deficit/hyperactivity disorder? Incidence in a population-based birth cohort in Rochester, Minn. Arch Pediatr Adolesc Med. 2002;156(3):217–24. - PubMed
    1. Viding E, Spinath FM, Price TS, et al. Genetic and environmental influence on language impairment in 4-year-old same-sex and opposite-sex twins. J Child Psychol Psychiatry. 2004;45(2):315–25. - PubMed
    1. Kanner L. Autistic disturbances of affective contact. Nervous Child. 1943;2:217–50. - PubMed