Brain Imaging and Behavior

, Volume 11, Issue 1, pp 38–61 | Cite as

Developmental neurogenetics and multimodal neuroimaging of sex differences in autism

  • Christina Chen
  • John Darrell Van Horn
  • GENDAAR Research Consortium
Original Research


Examining sex differences in the brain has been historically contentious but is nonetheless important for advancing mental health for both girls and boys. Unfortunately, females in biomedical research remain underrepresented in most mental health conditions including autism spectrum disorders (ASD), even though equal inclusion of females would improve treatment for girls and yield benefits to boys. This review examines sex differences in the relationship between neuroanatomy and neurogenetics of ASD. Recent findings reveal that girls diagnosed with ASD exhibit more intellectual and behavioral problems compared to their male counterparts, suggesting that girls may be less likely diagnosed in the absence of such problems or that they require a higher mutational load to meet the diagnostic criteria. Thus far, the female biased effect of chromosome 4, 5p15.33, 8p, 9p24.1, 11p12-13, 15q, and Xp22.3 and the male biased effect of 1p31.3, 5q12.3, 7q, 9q33.3, 11q13.4, 13q33.3, 16p11.2, 17q11-21, Xp22.33/Yp11.31, DRD1, NLGN3, MAOA, and SHANK1 deletion have been discovered in ASD. The SNPs of genes such as RYR2, UPP2, and the androgen receptor gene have been shown to have sex-biasing factors in both girls and boys diagnosed with ASD. These sex-related genetic factors may drive sex differences in the neuroanatomy of these girls and boys, including abnormal enlargement in temporal gray and white matter volumes, and atypical reduction in cerebellar gray matter volumes and corpus callosum fibers projecting to the anterior frontal cortex in ASD girls relative to boys. Such factors may also be responsible for the attenuation of brain sexual differentiation in adult men and women with ASD; however, much remains to be uncovered or replicated. Future research should leverage further the association between neuroanatomy and genetics in girls for an integrated and interdisciplinary understanding of ASD.


Sex differences Autism Neurogenetics Neuroimaging Brain development 



This research for and preparation of this article was performed with the support from the National Institutes of Mental Health (grant #5R01MH100028-03; sub-award, JDVH). The authors wish to thank Dr. Elizabeth Aylward of the Seattle Children’s Research Institute for constructive comments on an earlier draft of this article. We also acknowledge the members of the USC Mark and Mary Stevens Neuroimaging and Informatics Institute.

Compliance with ethical standards

Potential conflicts of interest

The authors declare no conflicts of interest.


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Copyright information

© Springer Science+Business Media New York 2016

Authors and Affiliations

  • Christina Chen
    • 1
  • John Darrell Van Horn
    • 2
  • GENDAAR Research Consortium
  1. 1.Neuroscience Graduate ProgramUniversity of Southern CaliforniaLos AngelesUSA
  2. 2.USC Mark and Mary Stevens Neuroimaging and Informatics Institute and Laboratory of Neuro Imaging, Keck School of Medicine of USCUniversity of Southern CaliforniaLos AngelesUSA

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