Understanding sex differences in brain function and genetics is critical to delineating the systems biology of autism spectrum disorder (ASD), but female ASD is understudied. We integrate imaging and genetic data in a sex-balanced sample of ASD and neurotypical youth to evaluate the hypothesis that there are female-specific pathways of ASD risk and resilience. FMRI data reveal a neurofunctional profile of female ASD characterized by motor, striatal, and frontal involvement not observed in male ASD. Further, we observe greater recruitment of salience and executive control networks among neurotypical girls versus neurotypical boys and autistic girls, suggesting neural correlates of the “Female Protective Effect.” Larger copy number variants containing gene(s) expressed in striatal cortex in autistic girls versus boys suggest a female-specific etiological role for potential impacts to this brain region. Our findings advocate caution in drawing conclusions regarding autistic girls based on male-predominant samples.
Keywords: autism spectrum disorders, sex differences, fMRI, genetics, social perception, striatum
Jack, Allison and Sullivan, Catherine A. W. and Aylward, Elizabeth and Bookheimer, Susan Y. and Dapretto, Mirella and Gaab, Nadine and Van Horn, John D. and Eilbott, Jeffrey and Jacokes, Zachary and Torgerson, Carinna M. and Bernier, Raphael A. and Geschwind, Daniel H. and McPartland, James and Nelson, Charles A. and Webb, Sara J. and Pelphrey, Kevin A. and Gupta, Abha R. and Consortium, GENDAAR, Neurogenetic Profiles of Risk and Resilience in Female Autism. Available at SSRN: https://ssrn.com/abstract=3532039 or http://dx.doi.org/10.2139/ssrn.3532039
This version of the paper has not been formally peer reviewed.
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