Sex and gender differences in autism spectrum disorder: summarizing evidence gaps and identifying emerging areas of priority

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Abstract

One of the most consistent findings in autism spectrum disorder (ASD) research is a higher rate of ASD diagnosis in males than females. Despite this, remarkably little research has focused on the reasons for this disparity. Better understanding of this sex difference could lead to major advancements in the prevention or treatment of ASD in both males and females. In October of 2014, Autism Speaks and the Autism Science Foundation co-organized a meeting that brought together almost 60 clinicians, researchers, parents, and self-identified autistic individuals. Discussion at the meeting is summarized here with recommendations on directions of future research endeavors.

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Most cited references 44

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The contribution of de novo coding mutations to autism spectrum disorder.

Ivan Iossifov, Brian J. O’Roak, Stephan Sanders … (2014)

Whole exome sequencing has proven to be a powerful tool for understanding the genetic architecture of human disease. Here we apply it to more than 2,500 simplex families, each having a child with an autistic spectrum disorder. By comparing affected to unaffected siblings, we show that 13% of de novo missense mutations and 43% of de novo likely gene-disrupting (LGD) mutations contribute to 12% and 9% of diagnoses, respectively. Including copy number variants, coding de novo mutations contribute to about 30% of all simplex and 45% of female diagnoses. Almost all LGD mutations occur opposite wild-type alleles. LGD targets in affected females significantly overlap the targets in males of lower intelligence quotient (IQ), but neither overlaps significantly with targets in males of higher IQ. We estimate that LGD mutation in about 400 genes can contribute to the joint class of affected females and males of lower IQ, with an overlapping and similar number of genes vulnerable to contributory missense mutation. LGD targets in the joint class overlap with published targets for intellectual disability and schizophrenia, and are enriched for chromatin modifiers, FMRP-associated genes and embryonically expressed genes. Most of the significance for the latter comes from affected females.

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Synaptic, transcriptional, and chromatin genes disrupted in autism

Silvia De Rubeis, Xin Yi He, Arthur P Goldberg … (2014)

Summary The genetic architecture of autism spectrum disorder involves the interplay of common and rare variation and their impact on hundreds of genes. Using exome sequencing, analysis of rare coding variation in 3,871 autism cases and 9,937 ancestry-matched or parental controls implicates 22 autosomal genes at a false discovery rate (FDR) < 0.05, and a set of 107 autosomal genes strongly enriched for those likely to affect risk (FDR < 0.30). These 107 genes, which show unusual evolutionary constraint against mutations, incur de novo loss-of-function mutations in over 5% of autistic subjects. Many of the genes implicated encode proteins for synaptic, transcriptional, and chromatin remodeling pathways. These include voltage-gated ion channels regulating propagation of action potentials, pacemaking, and excitability-transcription coupling, as well as histone-modifying enzymes and chromatin remodelers, prominently histone post-translational modifications involving lysine methylation/demethylation.

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A review of sex differences in peer relationship processes: potential trade-offs for the emotional and behavioral development of girls and boys.

Amanda J Rose, Karen Rudolph (2006)

Theory and research on sex differences in adjustment focus largely on parental, societal, and biological influences. However, it also is important to consider how peers contribute to girls' and boys' development. This article provides a critical review of sex differences in several peer relationship processes, including behavioral and social-cognitive styles, stress and coping, and relationship provisions. The authors present a speculative peer-socialization model based on this review in which the implications of these sex differences for girls' and boys' emotional and behavioral development are considered. Central to this model is the idea that sex-linked relationship processes have costs and benefits for girls' and boys' adjustment. Finally, the authors present recent research testing certain model components and propose approaches for testing understudied aspects of the model.

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Author and article information

Contributors

Alycia K Halladay: ahalladay@autismsciencefoundation.org

Somer Bishop: Somer.bishop@ucsf.edu

John N Constantino: constanj@psychiatry.wustl.edu

Amy M Daniels: amy.daniels@autismspeaks.org

Katheen Koenig: kathy.koenig@yale.edu

Kate Palmer: Kpalmer@grasp.org

Daniel Messinger: DMessinger@Miami.edu

Kevin Pelphrey: Kevin.pelphrey@yale.edu

Stephan J Sanders: stephan.sanders@ucsf.edu

Alison Tepper Singer: asinger@autismsciencefoundation.org

Julie Lounds Taylor: julie.l.taylor@vanderbilt.edu

Peter Szatmari: peter.szatmari@utoronto.ca

Journal

Journal ID (nlm-ta): Mol Autism

Journal ID (iso-abbrev): Mol Autism

Title: Molecular Autism

Publisher: BioMed Central (London )

ISSN (Electronic): 2040-2392

Publication date (Electronic): 13 June 2015

Publication date PMC-release: 13 June 2015

Publication date Collection: 2015

Volume: 6

Electronic Location Identifier: 36

Affiliations

[ ]Autism Science Foundation, 28 W 39th Street #502, New York, NY 10018 USA

[ ]Department of Pharmacology and Toxicology, Rutgers University, 41B Gordon Road, Piscataway, 08854 New Brunswick, NJ USA

[ ]Department of Psychiatry, University of California San Francisco, 401 Parnassus Ave, LangPorter, 94143 San Francisco, CA USA

[ ]William Greenleaf Eliot Division of Child Psychiatry, Washington University School of Medicine, 660 South Euclid Avenue, Campus Box 8134, 63110 St. Louis, MO USA

[ ]Autism Speaks, 1 E 33rd St 4th Floor, New York, NY 10016 USA

[ ]Initiative for Girls and Women with Autism Spectrum Disorders, Yale Child Study Center, PO Box 207900, 230 South Frontage Road, New Haven, CT 06520-7900 USA

[ ]Global and Regional Asperger, Syndrome Partnership, Inc., 419 Lafayette Street, New York, NY 10003 USA

[ ]Department of Psychology and Pediatrics, University of Miami, Flipse Building, P.O. Box 249229, Coral Gables, FL 33124-0751 USA

[ ]Child Neuroscience Laboratory, Yale Child Study Center, PO Box 207900, 230 South Frontage Road, New Haven, CT 06520-7900 USA

[ ]UCSF School of Medicine, Psychiatry, 1550 4th St Bldg 19B, San Francisco, CA 94158 USA

[ ]Pediatrics and Special Education, Vanderbilt Kennedy Center Investigator, PMB 40-230 Appleton Pl., Nashville, TN 37203 USA

[ ]The Hospital for Sick Children and Centre for Addiction and Mental Health, Centre for Addiction and Mental Health, University of Toronto, 1001 Queen Street West, Toronto, ON M6J 1H4 Canada

[ ]Division of Child and Adolescent Psychiatry, Centre for Addiction and Mental Health, University of Toronto, 1001 Queen Street West, Toronto, ON M6J 1H4 Canada

Article

Publisher ID: 19

DOI: 10.1186/s13229-015-0019-y

PMC ID: 4465158

PubMed ID: 26075049

SO-VID: b0fa78e3-e581-4d25-bed8-f887750d84d3

License:

This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver ( http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

History

Date received : 31 December 2014

Date accepted : 7 April 2015

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ScienceOpen disciplines: Neurosciences

Keywords: female,autism,diagnosis,protection,symposium,research

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ScienceOpen disciplines: Neurosciences

Keywords: female, autism, diagnosis, protection, symposium, research

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Sex and gender differences in autism spectrum disorder: summarizing evidence gaps and identifying emerging areas of priority

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Most cited references 44

The contribution of de novo coding mutations to autism spectrum disorder.

Synaptic, transcriptional, and chromatin genes disrupted in autism

A review of sex differences in peer relationship processes: potential trade-offs for the emotional and behavioral development of girls and boys.

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Cited by 181

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