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Neurogenetic Profiles of Risk and Resilience in Female Autism

52 Pages Posted: 7 Feb 2020 Publication Status: Review Complete

See all articles by Allison Jack

Allison Jack

George Mason University - Department of Psychology

Catherine A. W. Sullivan

Yale University - Department of Pediatrics

Elizabeth Aylward

Seattle Children’s Research Institute - Center for Integrative Brain Research

Susan Y. Bookheimer

University of California, Los Angeles (UCLA) - Semel Institute for Neuroscience and Human Behavior

Mirella Dapretto

University of California, Los Angeles (UCLA) - Semel Institute for Neuroscience and Human Behavior

Nadine Gaab

Boston Children's Hospital - Division of Developmental Medicine

John D. Van Horn

University of Virginia - Department of Psychology

Jeffrey Eilbott

Yale University - Child Study Center

Zachary Jacokes

University of Virginia - School of Data Science

Carinna M. Torgerson

University of Southern California - Mark & Mary Stevens Neuroimaging & Informatics Institute

Raphael A. Bernier

University of Washington - Department of Psychiatry and Behavioral Sciences

Daniel H. Geschwind

University of California, Los Angeles (UCLA) - Semel Institute for Neuroscience and Human Behavior

James McPartland

Yale University - Child Study Center

Charles A. Nelson

Harvard University - Department of Pediatrics

Sara J. Webb

University of Washington - Department of Psychiatry and Behavioral Sciences

Kevin A. Pelphrey

University of Virginia - Department of Psychology

Abha R. Gupta

Yale University - Department of Pediatrics

GENDAAR Consortium

Independent

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Abstract

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

Suggested Citation

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.

Allison Jack (Contact Author)

George Mason University - Department of Psychology ( email )

Fairfax, VA 22030-4444
United States

Catherine A. W. Sullivan

Yale University - Department of Pediatrics

United States

Elizabeth Aylward

Seattle Children’s Research Institute - Center for Integrative Brain Research ( email )

Seattle, WA
United States

Susan Y. Bookheimer

University of California, Los Angeles (UCLA) - Semel Institute for Neuroscience and Human Behavior ( email )

760 Westwood Plaza
Los Angeles, CA 90095
United States

Mirella Dapretto

University of California, Los Angeles (UCLA) - Semel Institute for Neuroscience and Human Behavior ( email )

760 Westwood Plaza
Los Angeles, CA 90095
United States

Nadine Gaab

Boston Children's Hospital - Division of Developmental Medicine ( email )

United States

John D. Van Horn

University of Virginia - Department of Psychology ( email )

United States

Jeffrey Eilbott

Yale University - Child Study Center ( email )

New Haven, CT 06520
United States

Zachary Jacokes

University of Virginia - School of Data Science ( email )

United States

Carinna M. Torgerson

University of Southern California - Mark & Mary Stevens Neuroimaging & Informatics Institute ( email )

Marina del Rey, CA
United States

Raphael A. Bernier

University of Washington - Department of Psychiatry and Behavioral Sciences ( email )

Seattle, WA 98108
United States

Daniel H. Geschwind

University of California, Los Angeles (UCLA) - Semel Institute for Neuroscience and Human Behavior ( email )

760 Westwood Plaza
Los Angeles, CA 90095
United States

James McPartland

Yale University - Child Study Center ( email )

New Haven, CT 06520
United States

Charles A. Nelson

Harvard University - Department of Pediatrics ( email )

Boston, MA
United States

Sara J. Webb

University of Washington - Department of Psychiatry and Behavioral Sciences ( email )

Seattle, WA 98108
United States

Kevin A. Pelphrey

University of Virginia - Department of Psychology ( email )

United States

Abha R. Gupta

Yale University - Department of Pediatrics ( email )

United States

GENDAAR Consortium

Independent

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