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

Abstract

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.

Keywords

Sex differences Autism Neurogenetics Neuroimaging Brain development 

Notes

Acknowledgments

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.

References

  1. ABS (2011). All Persons with autism, by sex - 2009. Canberra, Australia.Google Scholar
  2. Ahmed, E. I., Zehr, J. L., Schulz, K. M., Lorenz, B. H., DonCarlos, L. L., & Sisk, C. L. (2008). Pubertal hormones modulate the addition of new cells to sexually dimorphic brain regions. Nature Neuroscience, 11(9), 995–997.PubMedPubMedCentralCrossRefGoogle Scholar
  3. Al-Farsi, Y. M., Al-Sharbati, M. M., Al-Farsi, O. A., Al-Shafaee, M. S., Brooks, D. R., & Waly, M. I. (2011). Brief report: prevalence of autistic spectrum disorders in the Sultanate of Oman. Journal of Autism and Developmental Disorders, 41(6), 821–825.PubMedCrossRefGoogle Scholar
  4. Andersson, G. W., Gillberg, C., & Miniscalco, C. (2013). Pre-school children with suspected autism spectrum disorders: do girls and boys have the same profiles? Research in Developmental Disabilities, 34(1), 413–422.PubMedCrossRefGoogle Scholar
  5. APA. (2013). Diagnostic and statistical manual of mental disorders. Washington: American Psychiatric Association.Google Scholar
  6. Arnold, A. P. (2004). Sex chromosomes and brain gender. Nature Review Neuroscience, 5(9), 701–708.CrossRefGoogle Scholar
  7. Bailey, A., Le Couteur, A., Gottesman, I., Bolton, P., Simonoff, E., Yuzda, E., & Rutter, M. (1995). Autism as a strongly genetic disorder: evidence from a British twin study. Psychological Medicine, 25(1), 63–77.PubMedCrossRefGoogle Scholar
  8. Ballif, B. C., Hornor, S. A., Jenkins, E., Madan-Khetarpal, S., Surti, U., Jackson, K. E., Asamoah, A., Brock, P. L., Gowans, G. C., Conway, R. L., Graham, J. M., Medne, L., Zackai, E. H., Shaikh, T. H., Geoghegan, J., Selzer, R. R., Eis, P. S., Bejjani, B. A., & Shaffer, L. G. (2007). Discovery of a previously unrecognized microdeletion syndrome of 16p11.2–p12.2. Nature Genetics, 39(9), 1071–1073.PubMedCrossRefGoogle Scholar
  9. Banach, R., Thompson, A., Szatmari, P., Goldberg, J., Tuff, L., Zwaigenbaum, L., & Mahoney, W. (2009). Brief report: relationship between non-verbal IQ and gender in autism. Journal of Autism and Developmental Disorders, 39(1), 188–193.PubMedCrossRefGoogle Scholar
  10. Baron-Cohen, S., Knickmeyer, R. C., & Belmonte, M. K. (2005). Sex differences in the brain: implications for explaining autism. Science, 310(5749), 819–823.PubMedCrossRefGoogle Scholar
  11. Baron-Cohen, S., Lombardo, M. V., Auyeung, B., Ashwin, E., Chakrabarti, B., & Knickmeyer, R. (2011). Why are autism spectrum conditions more prevalent in males? PLoS Biology, 9(6), e1001081.PubMedPubMedCentralCrossRefGoogle Scholar
  12. Bava, S., Boucquey, V., Goldenberg, D., Thayer, R. E., Ward, M., Jacobus, J., & Tapert, S. F. (2011). Sex differences in adolescent white matter architecture. Brain Research, 1375, 41–48.PubMedCrossRefGoogle Scholar
  13. Beacher, F. D., Minati, L., Baron-Cohen, S., Lombardo, M. V., Lai, M. C., Gray, M. A., Harrison, N. A., & Critchley, H. D. (2012). Autism attenuates sex differences in brain structure: a combined voxel-based morphometry and diffusion tensor imaging study. AJNR - American Journal of Neuroradiology, 33(1), 83–89.PubMedCrossRefGoogle Scholar
  14. Beery, A. K., & Zucker, I. (2011). Sex bias in neuroscience and biomedical research. Neuroscience and Biobehavioral Reviews, 35(3), 565–572.PubMedCrossRefGoogle Scholar
  15. Begeer, S., Mandell, D., Wijnker-Holmes, B., Venderbosch, S., Rem, D., Stekelenburg, F., & Koot, H. M. (2013). Sex differences in the timing of identification among children and adults with autism spectrum disorders. Journal of Autism and Developmental Disorders, 43(5), 1151–1156.PubMedCrossRefGoogle Scholar
  16. Bishop, D. V., Jacobs, P. A., Lachlan, K., Wellesley, D., Barnicoat, A., Boyd, P. A., Fryer, A., Middlemiss, P., Smithson, S., Metcalfe, K., Shears, D., Leggett, V., Nation, K., & Scerif, G. (2011). Autism, language and communication in children with sex chromosome trisomies. Archives of Disease in Childhood, 96(10), 954–959.PubMedCrossRefGoogle Scholar
  17. Bloss, C. S., & Courchesne, E. (2007). MRI neuroanatomy in young girls with autism: a preliminary study. Journal of the American Academy of Child and Adolescent Psychiatry, 46(4), 515–523.PubMedCrossRefGoogle Scholar
  18. Blumberg, S.J., Bramlett, M.D., Kogan, M.D., Schieve, L.A., Jones, J.R. & Lu, M.C. (2013). Changes in prevalence of parent-reported autism spectrum disorder in school-aged U.S. children: 2007 to 2011–2012. National Health Statistic Report, (65), 1–11, 11 p following 11.Google Scholar
  19. Bölte, S., Duketis, E., Poustka, F., & Holtmann, M. (2011). Sex differences in cognitive domains and their clinical correlates in higher-functioning autism spectrum disorders. Autism, 15(4), 497–511.PubMedCrossRefGoogle Scholar
  20. Boronat, S., Mehan, W. A., Shaaya, E. A., Thibert, R. L., & Caruso, P. (2015). Hippocampal abnormalities in magnetic resonance imaging (MRI) of 15q duplication syndromes. Journal of Child Neurology, 30(3), 333–338.PubMedCrossRefGoogle Scholar
  21. Bortolato, M., Godar, S. C., Alzghoul, L., Zhang, J., Darling, R. D., Simpson, K. L., Bini, V., Chen, K., Wellman, C. L., Lin, R. C., & Shih, J. C. (2013). Monoamine oxidase A and A/B knockout mice display autistic-like features. International Journal of Neuropsychopharmacology, 16(4), 869–888.PubMedCrossRefGoogle Scholar
  22. Brown, S., Gersen, S., Anyane-Yeboa, K., & Warburton, D. (1993). Preliminary definition of a “critical region” of chromosome 13 in q32: report of 14 cases with 13q deletions and review of the literature. American Journal of Medical Genetics, 45(1), 52–59.PubMedCrossRefGoogle Scholar
  23. Brugha, T. S., McManus, S., Bankart, J., Scott, F., Purdon, S., Smith, J., Bebbington, P., Jenkins, R., & Meltzer, H. (2011). Epidemiology of autism spectrum disorders in adults in the community in England. Archives of General Psychiatry, 68(5), 459–465.PubMedCrossRefGoogle Scholar
  24. Cahill, L. (2006). Why sex matters for neuroscience. Nature Review Neuroscience, 7(6), 477–484.PubMedCrossRefGoogle Scholar
  25. Cahill, L. (2014). Equal ≠ the same: sex differences in the human brain. Cerebrum, 2014, 5.PubMedPubMedCentralGoogle Scholar
  26. Calderoni, S., Retico, A., Biagi, L., Tancredi, R., Muratori, F., & Tosetti, M. (2012). Female children with autism spectrum disorder: an insight from mass-univariate and pattern classification analyses. NeuroImage, 59(2), 1013–1022.PubMedCrossRefGoogle Scholar
  27. Cantor, R. M., Kono, N., Duvall, J. A., Alvarez-Retuerto, A., Stone, J. L., Alarcón, M., Nelson, S. F., & Geschwind, D. H. (2005). Replication of autism linkage: fine-mapping peak at 17q21. American Journal of Human Genetics, 76(6), 1050–1056.PubMedPubMedCentralCrossRefGoogle Scholar
  28. Carayol, J., Schellenberg, G. D., Dombroski, B., Amiet, C., Genin, B., Fontaine, K., Rousseau, F., Vazart, C., Cohen, D., Frazier, T. W., Hardan, A. Y., Dawson, G., & Rio Frio, T. (2014). A scoring strategy combining statistics and functional genomics supports a possible role for common polygenic variation in autism. Frontiers in Genetics, 5, 33.PubMedPubMedCentralCrossRefGoogle Scholar
  29. Carruth, L. L., Reisert, I., & Arnold, A. P. (2002). Sex chromosome genes directly affect brain sexual differentiation. Nature Neuroscience, 5(10), 933–934.PubMedCrossRefGoogle Scholar
  30. Carter, A. S., Black, D. O., Tewani, S., Connolly, C. E., Kadlec, M. B., & Tager-Flusberg, H. (2007). Sex differences in toddlers with autism spectrum disorders. Journal of Autism and Developmental Disorders, 37(1), 86–97.PubMedCrossRefGoogle Scholar
  31. CDC. (2007a). Prevalence of autism spectrum disorders --- autism and developmental disabilities monitoring network, 14 sites, United States, 2002. Morbidity and Mortality Weekly Report, 56(1), 12–28.Google Scholar
  32. CDC. (2007b). Prevalence of autism spectrum disorders --- autism and developmental disabilities monitoring network, six sites, United States, 2000. Morbidity and Mortality Weekly Report, 56(1), 1–11.Google Scholar
  33. CDC. (2009a). Brief update: prevalence of Autism Spectrum Disorders (ASDs) --- Autism and Developmental Disabilities Monitoring (ADDM) network, United States, 2004. Morbidity and Mortality Weekly Report, 58(10), 21–24.Google Scholar
  34. CDC. (2009b). Prevalence of autism spectrum disorders --- autism and developmental disabilities monitoring network, United States, 2006. Morbidity and Mortality Weekly Report, 58(10), 1–20.Google Scholar
  35. CDC. (2012). Prevalence of autism spectrum disorders - autism and developmental disabilities monitoring network, 14 sites, United States, 2008. Morbidity and Mortality Weekly Report, 61(3), 1–19.Google Scholar
  36. CDC. (2014). Prevalence of autism spectrum disorder among children aged 8 years — autism and developmental disabilities monitoring network, 11 sites, United States, 2010. Morbidity and Mortality Weekly Report, 63(2), 1–21.Google Scholar
  37. Chang, S. C., Pauls, D. L., Lange, C., Sasanfar, R., & Santangelo, S. L. (2013). Sex-specific association of a common variant of the XG gene with autism spectrum disorders. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 162B(7), 742–750.CrossRefGoogle Scholar
  38. Cheslack-Postava, K., & Jordan-Young, R. M. (2012). Autism spectrum disorders: toward a gendered embodiment model. Social Science and Medicine, 74(11), 1667–1674.PubMedCrossRefGoogle Scholar
  39. Constantino, J. N., & Todd, R. D. (2000). Genetic structure of reciprocal social behavior. The American Journal of Psychiatry, 157(12), 2043–2045.PubMedCrossRefGoogle Scholar
  40. Constantino, J. N., & Todd, R. D. (2003). Autistic traits in the general population: a twin study. Archives of General Psychiatry, 60(5), 524–530.PubMedCrossRefGoogle Scholar
  41. Constantino, J. N., & Todd, R. D. (2005). Intergenerational transmission of subthreshold autistic traits in the general population. Biological Psychiatry, 57(6), 655–660.PubMedCrossRefGoogle Scholar
  42. Coppola, A., Striano, P., Gimelli, S., Ciampa, C., Santulli, L., Caranci, F., Zuffardi, O., Gimelli, G., Striano, S., & Zara, F. (2010). A de novo 11p12-p15.4 duplication in a patient with pharmacoresistant epilepsy, mental retardation, and dysmorphisms. Brain Dev, 32(3), 248–252.PubMedCrossRefGoogle Scholar
  43. Courchesne, E., Carper, R., & Akshoomoff, N. (2003). Evidence of brain overgrowth in the first year of life in autism. JAMA, 290(3), 337–344.PubMedCrossRefGoogle Scholar
  44. Cox, K. H., Quinnies, K. M., Eschendroeder, A., Didrick, P. M., Eugster, E. A., & Rissman, E. F. (2015). Number of X-chromosome genes influences social behavior and vasopressin gene expression in mice. Psychoneuroendocrinology, 51, 271–281.PubMedCrossRefGoogle Scholar
  45. Craig, M. C., Zaman, S. H., Daly, E. M., Cutter, W. J., Robertson, D. M., Hallahan, B., Toal, F., Reed, S., Ambikapathy, A., Brammer, M., Murphy, C. M., & Murphy, D. G. (2007). Women with autistic-spectrum disorder: magnetic resonance imaging study of brain anatomy. British Journal of Psychiatry, 191, 224–228.PubMedCrossRefGoogle Scholar
  46. Creswell, C. S., & Skuse, D. H. (1999). Autism in association with Turner syndrome: genetic implications for male vulnerability to pervasive developmental disorders. Neurocase, 5(6), 511–518.CrossRefGoogle Scholar
  47. Cruts, M., Gijselinck, I., van der Zee, J., Engelborghs, S., Wils, H., Pirici, D., Rademakers, R., Vandenberghe, R., Dermaut, B., Martin, J. J., van Duijn, C., Peeters, K., Sciot, R., Santens, P., De Pooter, T., Mattheijssens, M., Van den Broeck, M., Cuijt, I., Vennekens, K., De Deyn, P. P., Kumar-Singh, S., & Van Broeckhoven, C. (2006). Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21. Nature, 442(7105), 920–924.PubMedCrossRefGoogle Scholar
  48. Dai, X., Gao, Y., Xu, Z., Cui, X., Liu, J., Li, Y., Xu, H., Liu, M., Wang, Q. K., & Liu, J. Y. (2010). Identification of a novel genetic locus on chromosome 8p21.1-q11.23 for idiopathic basal ganglia calcification. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 153B(7), 1305–1310.CrossRefGoogle Scholar
  49. De Rubeis, S., & Buxbaum, J. D. (2015). Recent advances in the genetics of autism spectrum disorder. Current Neurology and Neuroscience Reports, 15(6), 36.PubMedCrossRefGoogle Scholar
  50. De Rubeis, S., He, X., Goldberg, A. P., Poultney, C. S., Samocha, K., Cicek, A. E., Kou, Y., Liu, L., Fromer, M., Walker, S., Singh, T., Klei, L., Kosmicki, J., Shih-Chen, F., Aleksic, B., Biscaldi, M., Bolton, P. F., Brownfeld, J. M., Cai, J., Campbell, N. G., Carracedo, A., Chahrour, M. H., Chiocchetti, A. G., Coon, H., Crawford, E. L., Curran, S. R., Dawson, G., Duketis, E., Fernandez, B. A., Gallagher, L., Geller, E., Guter, S. J., Hill, R. S., Ionita-Laza, J., Jimenz Gonzalez, P., Kilpinen, H., Klauck, S. M., Kolevzon, A., Lee, I., Lei, I., Lei, J., Lehtimaki, T., Lin, C. F., Ma’ayan, A., Marshall, C. R., McInnes, A. L., Neale, B., Owen, M. J., Ozaki, N., Parellada, M., Parr, J. R., Purcell, S., Puura, K., Rajagopalan, D., Rehnstrom, K., Reichenberg, A., Sabo, A., Sachse, M., Sanders, S. J., Schafer, C., Schulte-Ruther, M., Skuse, D., Stevens, C., Szatmari, P., Tammimies, K., Valladares, O., Voran, A., Li-San, W., Weiss, L. A., Willsey, A. J., Yu, T. W., Yuen, R. K., Cook, E. H., Freitag, C. M., Gill, M., Hultman, C. M., Lehner, T., Palotie, A., Schellenberg, G. D., Sklar, P., State, M. W., Sutcliffe, J. S., Walsh, C. A., Scherer, S. W., Zwick, M. E., Barett, J. C., Cutler, D. J., Roeder, K., Devlin, B., Daly, M. J., Buxbaum, J. D., Study, DDD, Homozygosity Mapping Collaborative for, A., & Consortium, UK. (2014). Synaptic, transcriptional and chromatin genes disrupted in autism. Nature, 515(7526), 209–215.PubMedPubMedCentralCrossRefGoogle Scholar
  51. Dean, M., Kasari, C., Shih, W., Frankel, F., Whitney, R., Landa, R., Lord, C., Orlich, F., King, B., & Harwood, R. (2014). The peer relationships of girls with ASD at school: comparison to boys and girls with and without ASD. Journal of Child Psychology and Psychiatry, 55(11), 1218–1225.PubMedCrossRefGoogle Scholar
  52. Dong, S., Walker, M. F., Carriero, N. J., DiCola, M., Willsey, A. J., Ye, A. Y., Waqar, Z., Gonzalez, L. E., Overton, J. D., Frahm, S., Keaney, J. F., 3rd, Teran, N. A., Dea, J., Mandell, J. D., Hus Bal, V., Sullivan, C. A., DiLullo, N. M., Khalil, R. O., Gockley, J., Yuksel, Z., Sertel, S. M., Ercan-Sencicek, A. G., Gupta, A. R., Mane, S. M., Sheldon, M., Brooks, A. I., Roeder, K., Devlin, B., State, M. W., Wei, L., & Sanders, S. J. (2014). De novo insertions and deletions of predominantly paternal origin are associated with autism spectrum disorder. Cell Reports, 9(1), 16–23.PubMedPubMedCentralCrossRefGoogle Scholar
  53. Donnelly, S. L., Wolpert, C. M., Menold, M. M., Bass, M. P., Gilbert, J. R., Cuccaro, M. L., Delong, G. R., & Pericak-Vance, M. A. (2000). Female with autistic disorder and monosomy X (Turner syndrome): parent-of-origin effect of the X chromosome. American Journal of Medical Genetics, 96(3), 312–316.PubMedCrossRefGoogle Scholar
  54. Dworzynski, K., Ronald, A., Bolton, P., & Happé, F. (2012). How different are girls and boys above and below the diagnostic threshold for autism spectrum disorders? Journal of the American Academy of Child and Adolescent Psychiatry, 51(8), 788–797.PubMedCrossRefGoogle Scholar
  55. Egloff, M., Encha-Razavi, F., Garel, C., Bonnière-Darcy, M., Millischer, A. E., Lapierre, J. M., Fontaine, S., de Blois, M. C., Vekemans, M., Turleau, C., Ville, Y., & Malan, V. (2014). 17q21.31 microdeletion: brain anomalies leading to prenatal diagnosis. Cytogenetic and Genome Research, 144(3), 178–182.PubMedCrossRefGoogle Scholar
  56. Eliot, L. (2011). The trouble with sex differences. Neuron, 72(6), 895–898.PubMedCrossRefGoogle Scholar
  57. Fine, C. (2010). Delusions of gender: How our minds, society, and neurosexism create difference. New York: W. W. Norton & Company.Google Scholar
  58. Fombonne, E. (2002). Epidemiological trends in rates of autism. Molecular Psychiatry, 7(Suppl 2), S4–S6.PubMedCrossRefGoogle Scholar
  59. Fombonne, E., Quirke, S., & Hagen, A. (2009). Prevalence and interpretation of recent trends in rates of pervasive developmental disorders. McGill Journal of Medicine, 12(2), 73.PubMedPubMedCentralGoogle Scholar
  60. Frazier, T. W., Georgiades, S., Bishop, S. L., & Hardan, A. Y. (2014). Behavioral and cognitive characteristics of females and males with autism in the Simons simplex collection. Journal of the American Academy of Child and Adolescent Psychiatry, 53(3), 329-40.e1-3.PubMedCrossRefGoogle Scholar
  61. Geschwind, D. H., & Levitt, P. (2007). Autism spectrum disorders: developmental disconnection syndromes. Current Opinion in Neurobiology, 17(1), 103–111.PubMedCrossRefGoogle Scholar
  62. Giarelli, E., Wiggins, L. D., Rice, C. E., Levy, S. E., Kirby, R. S., Pinto-Martin, J., & Mandell, D. (2010). Sex differences in the evaluation and diagnosis of autism spectrum disorders among children. Disability and Health Journal, 3(2), 107–116.PubMedCrossRefGoogle Scholar
  63. Giedd, J. N., Raznahan, A., Mills, K. L., & Lenroot, R. K. (2012). Review: magnetic resonance imaging of male/female differences in human adolescent brain anatomy. Biology of Sex Differences, 3(1), 19.PubMedPubMedCentralCrossRefGoogle Scholar
  64. Gillberg, C., Cederlund, M., Lamberg, K., & Zeijlon, L. (2006). Brief report: “the autism epidemic”. The registered prevalence of autism in a Swedish urban area. Journal of Autism and Developmental Disorders, 36(3), 429–435.PubMedCrossRefGoogle Scholar
  65. Gilman, S. R., Iossifov, I., Levy, D., Ronemus, M., Wigler, M., & Vitkup, D. (2011). Rare de novo variants associated with autism implicate a large functional network of genes involved in formation and function of synapses. Neuron, 70(5), 898–907.PubMedPubMedCentralCrossRefGoogle Scholar
  66. Gilmore, J. H., Lin, W., Prastawa, M. W., Looney, C. B., Vetsa, Y. S., Knickmeyer, R. C., Evans, D. D., Smith, J. K., Hamer, R. M., Lieberman, J. A., & Gerig, G. (2007). Regional gray matter growth, sexual dimorphism, and cerebral asymmetry in the neonatal brain. Journal of Neuroscience, 27(6), 1255–1260.PubMedPubMedCentralCrossRefGoogle Scholar
  67. Gockley, J., Willsey, A. J., Dong, S., Dougherty, J. D., Constantino, J. N., & Sanders, S. J. (2015). The female protective effect in autism spectrum disorder is not mediated by a single genetic locus. Molecular Autism, 6, 25.PubMedPubMedCentralCrossRefGoogle Scholar
  68. Goin-Kochel, R. P., Abbacchi, A., Constantino, J. N., & Consortium A.G.R.E. (2007). Lack of evidence for increased genetic loading for autism among families of affected females: a replication from family history data in two large samples. Autism, 11(3), 279–286.PubMedCrossRefGoogle Scholar
  69. Gong, G., He, Y., & Evans, A. C. (2011). Brain connectivity: gender makes a difference. The Neuroscientist, 17(5), 575–591.PubMedCrossRefGoogle Scholar
  70. Greenough, W. T., & Black, J. E. (1992). Induction of brain structure by experience: Substrates for cognitive development. New Jersey: Lawrence Earlbaum Associates.Google Scholar
  71. Hallmayer, J., Spiker, D., Lotspeich, L., McMahon, W. M., Petersen, P. B., Nicholas, P., Pingree, C., & Ciaranello, R. D. (1996). Male-to-male transmission in extended pedigrees with multiple cases of autism. American Journal of Medical Genetics, 67(1), 13–18.PubMedCrossRefGoogle Scholar
  72. Hallmayer, J., Cleveland, S., Torres, A., Phillips, J., Cohen, B., Torigoe, T., Miller, J., Fedele, A., Collins, J., Smith, K., Lotspeich, L., Croen, L. A., Ozonoff, S., Lajonchere, C., Grether, J. K., & Risch, N. (2011). Genetic heritability and shared environmental factors among twin pairs with autism. Archives of General Psychiatry, 68(11), 1095–1102.PubMedPubMedCentralCrossRefGoogle Scholar
  73. Handa, R. J., & Weiser, M. J. (2014). Gonadal steroid hormones and the hypothalamo-pituitary-adrenal axis. Frontiers in Neuroendocrinology, 35(2), 197–220.PubMedCrossRefGoogle Scholar
  74. Hartley, S. L., & Sikora, D. M. (2009). Sex differences in autism spectrum disorder: an examination of developmental functioning, autistic symptoms, and coexisting behavior problems in toddlers. Journal of Autism and Developmental Disorders, 39(12), 1715–1722.PubMedPubMedCentralCrossRefGoogle Scholar
  75. Hattier, M. A., Matson, J. L., Tureck, K., & Horovitz, M. (2011). The effects of gender and age on repetitive and/or restricted behaviors and interests in adults with autism spectrum disorders and intellectual disability. Research in Developmental Disabilities, 32(6), 2346–2351.PubMedCrossRefGoogle Scholar
  76. Head, A. M., McGillivray, J. A., & Stokes, M. A. (2014). Gender differences in emotionality and sociability in children with autism spectrum disorders. Molecular Autism, 5(1), 19.PubMedPubMedCentralCrossRefGoogle Scholar
  77. Henningsson, S., Jonsson, L., Ljunggren, E., Westberg, L., Gillberg, C., Råstam, M., Anckarsäter, H., Nygren, G., Landén, M., Thuresson, K., Betancur, C., Leboyer, M., Eriksson, E., & Melke, J. (2009). Possible association between the androgen receptor gene and autism spectrum disorder. Psychoneuroendocrinology, 34(5), 752–761.PubMedCrossRefGoogle Scholar
  78. Hettinger, J. A., Liu, X., Schwartz, C. E., Michaelis, R. C., & Holden, J. J. (2008). A DRD1 haplotype is associated with risk for autism spectrum disorders in male-only affected sib-pair families. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 147B(5), 628–636.CrossRefGoogle Scholar
  79. Hiller, R. M., Young, R. L., & Weber, N. (2014). Sex differences in autism spectrum disorder based on DSM-5 criteria: evidence from clinician and teacher reporting. Journal of Abnormal Child Psychology, 42(8), 1381–1393.PubMedCrossRefGoogle Scholar
  80. Hoekstra, R. A., Bartels, M., Verweij, C. J., & Boomsma, D. I. (2007). Heritability of autistic traits in the general population. Archives of Pediatrics & Adolescent Medicine, 161(4), 372–377.CrossRefGoogle Scholar
  81. Holtmann, M., Bolte, S., & Poustka, F. (2007). Autism spectrum disorders: sex differences in autistic behaviour domains and coexisting psychopathology. Developmental Medicine and Child Neurology, 49, 361–366.PubMedCrossRefGoogle Scholar
  82. Horiuchi, F., Oka, Y., Uno, H., Kawabe, K., Okada, F., Saito, I., Tanigawa, T., & Ueno, S. (2014). Age- and sex-related emotional and behavioral problems in children with autism spectrum disorders: comparison with control children. Psychiatry and Clinical Neurosciences, 68(7), 542–550.PubMedCrossRefGoogle Scholar
  83. Hu, V.W., Sarachana, T., Sherrard, R., & Kocher, K. (2015). Investigation of sex differences in the expression of RORA and its transcriptional targets in the brain as a potential contributor to the sex bias in autism. Molecular Autism, 6(7).Google Scholar
  84. Idring, S., Rai, D., Dal, H., Dalman, C., Sturm, H., Zander, E., Lee, B. K., Serlachius, E., & Magnusson, C. (2012). Autism spectrum disorders in the Stockholm youth cohort: design, prevalence and validity. PLoS ONE, 7(7), e41280.PubMedPubMedCentralCrossRefGoogle Scholar
  85. Ingalhalikar, M., Smith, A., Parker, D., Satterthwaite, T. D., Elliott, M. A., Ruparel, K., Hakonarson, H., Gur, R. E., Gur, R. C., & Verma, R. (2014). Sex differences in the structural connectome of the human brain. Proceedings of the National Academy of Sciences of the United States of America, 111(2), 823–828.PubMedCrossRefGoogle Scholar
  86. Iossifov, I., Ronemus, M., Levy, D., Wang, Z., Hakker, I., Rosenbaum, J., Yamrom, B., Lee, Y. H., Narzisi, G., Leotta, A., Kendall, J., Grabowska, E., Ma, B., Marks, S., Rodgers, L., Stepansky, A., Troge, J., Andrews, P., Bekritsky, M., Pradhan, K., Ghiban, E., Kramer, M., Parla, J., Demeter, R., Fulton, L. L., Fulton, R. S., Magrini, V. J., Ye, K., Darnell, J. C., Darnell, R. B., Mardis, E. R., Wilson, R. K., Schatz, M. C., McCombie, W. R., & Wigler, M. (2012). De novo gene disruptions in children on the autistic spectrum. Neuron, 74(2), 285–299.PubMedPubMedCentralCrossRefGoogle Scholar
  87. Iossifov, I., O’Roak, B. J., Sanders, S. J., Ronemus, M., Krumm, N., Levy, D., Stessman, H. A., Witherspoon, K. T., Vives, L., Patterson, K. E., Smith, J. D., Paeper, B., Nickerson, D. A., Dea, J., Dong, S., Gonzalez, L. E., Mandell, J. D., Mane, S. M., Murtha, M. T., Sullivan, C. A., Walker, M. F., Waqar, Z., Wei, L., Willsey, A. J., Yamrom, B., Lee, Y. H., Grabowska, E., Dalkic, E., Wang, Z., Marks, S., Andrews, P., Leotta, A., Kendall, J., Hakker, I., Rosenbaum, J., Ma, B., Rodgers, L., Troge, J., Narzisi, G., Yoon, S., Schatz, M. C., Ye, K., McCombie, W. R., Shendure, J., Eichler, E. E., State, M. W., & Wigler, M. (2014). The contribution of de novo coding mutations to autism spectrum disorder. Nature, 515(7526), 216–221.PubMedPubMedCentralCrossRefGoogle Scholar
  88. Jacquemont, S., Coe, B. P., Hersch, M., Duyzend, M. H., Krumm, N., Bergmann, S., Beckmann, J. S., Rosenfeld, J. A., & Eichler, E. E. (2014). A higher mutational burden in females supports a “female protective model” in neurodevelopmental disorders. American Journal of Human Genetics, 94(3), 415–425.PubMedPubMedCentralCrossRefGoogle Scholar
  89. Jazin, E., & Cahill, L. (2010). Sex differences in molecular neuroscience: from fruit flies to humans. Nature Review Neuroscience, 11(1), 9–17.CrossRefGoogle Scholar
  90. Jha, P., Sheth, D., & Ghaziuddin, M. (2007). Autism spectrum disorder and Klinefelter syndrome. European Child and Adolescent Psychiatry, 16(5), 305–308.PubMedCrossRefGoogle Scholar
  91. Joel, D. (2011). Male or female? Brains are intersex. Frontiers in Integrative Neuroscience, 5, 57.PubMedPubMedCentralCrossRefGoogle Scholar
  92. Keehn, B., Wagner, J. B., Tager-Flusberg, H., & Nelson, C. A. (2013). Functional connectivity in the first year of life in infants at-risk for autism: a preliminary near-infrared spectroscopy study. Frontiers in Human Neuroscience, 7, 444.PubMedPubMedCentralCrossRefGoogle Scholar
  93. Keller, T. A., Kana, R. K., & Just, M. A. (2007). A developmental study of the structural integrity of white matter in autism. Neuroreport, 18(1), 23–27.PubMedCrossRefGoogle Scholar
  94. Kim, J. E., O’Sullivan, M. L., Sanchez, C. A., Hwang, M., Israel, M. A., Brennand, K., Deerinck, T. J., Goldstein, L. S., Gage, F. H., Ellisman, M. H., & Ghosh, A. (2011a). Investigating synapse formation and function using human pluripotent stem cell-derived neurons. Proceedings of the National Academy of Sciences of the United States of America, 108(7), 3005–3010.PubMedPubMedCentralCrossRefGoogle Scholar
  95. Kim, Y. S., Leventhal, B. L., Koh, Y. J., Fombonne, E., Laska, E., Lim, E. C., Cheon, K. A., Kim, S. J., Kim, Y. K., Lee, H., Song, D. H., & Grinker, R. R. (2011b). Prevalence of autism spectrum disorders in a total population sample. The American Journal of Psychiatry, 168(9), 904–912.PubMedCrossRefGoogle Scholar
  96. Kirkovski, M., Enticott, P. G., & Fitzgerald, P. B. (2013). A review of the role of female gender in autism spectrum disorders. Journal of Autism and Developmental Disorders, 43(11), 2584–2603.PubMedCrossRefGoogle Scholar
  97. Klei, L., Sanders, S. J., Murtha, M. T., Hus, V., Lowe, J. K., Willsey, A. J., Moreno-De-Luca, D., Yu, T. W., Fombonne, E., Geschwind, D., Grice, D. E., Ledbetter, D. H., Lord, C., Mane, S. M., Martin, C. L., Martin, D. M., Morrow, E. M., Walsh, C. A., Melhem, N. M., Chaste, P., Sutcliffe, J. S., State, M. W., Cook, E. H., Roeder, K., & Devlin, B. (2012). Common genetic variants, acting additively, are a major source of risk for autism. Molecular Autism, 3(1), 9.PubMedPubMedCentralCrossRefGoogle Scholar
  98. Knickmeyer, R. C., Wheelwright, S., & Baron-Cohen, S. B. (2008). Sex-typical play: masculinization/defeminization in girls with an autism spectrum condition. Journal of Autism and Developmental Disorders, 38(6), 1028–1035.PubMedCrossRefGoogle Scholar
  99. Knickmeyer, R. C., Wang, J., Zhu, H., Geng, X., Woolson, S., Hamer, R. M., Konneker, T., Styner, M., & Gilmore, J. H. (2014). Impact of sex and gonadal steroids on neonatal brain structure. Cerebral Cortex, 24(10), 2721–2731.PubMedCrossRefGoogle Scholar
  100. Kobayashi, E., Facchin, D., Steiner, C. E., Leone, A. A., Campos, N. L., Cendes, F., & Lopes-Cendes, I. (2002). Mesial temporal lobe abnormalities in a family with 15q26qter trisomy. Archives of Neurology, 59(9), 1476–1479.PubMedCrossRefGoogle Scholar
  101. Koolen, D. A., Vissers, L. E., Pfundt, R., de Leeuw, N., Knight, S. J., Regan, R., Kooy, R. F., Reyniers, E., Romano, C., Fichera, M., Schinzel, A., Baumer, A., Anderlid, B. M., Schoumans, J., Knoers, N. V., van Kessel, A. G., Sistermans, E. A., Veltman, J. A., Brunner, H. G., & de Vries, B. B. (2006). A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism. Nature Genetics, 38(9), 999–1001.PubMedCrossRefGoogle Scholar
  102. Kopp, S., & Gillberg, C. (2011). The Autism Spectrum Screening Questionnaire (ASSQ)-Revised Extended Version (ASSQ-REV): an instrument for better capturing the autism phenotype in girls? A preliminary study involving 191 clinical cases and community controls. Research in Developmental Disabilities, 32(6), 2875–2888.PubMedCrossRefGoogle Scholar
  103. Kreiser, N. L., & White, S. W. (2014). ASD in females: are we overstating the gender difference in diagnosis? Clinical Child and Family Psychology Review, 17(1), 67–84.PubMedCrossRefGoogle Scholar
  104. Kumazakia, H., Muramatsub, T., Kosakaa, H., Fujisawaa, T., Iwatac, K., Tomodaa, A., Tsuchiyad, K., & Mimurab, M. (2015). Sex differences in cognitive and symptom profiles in children with high functioning autism spectrum disorders. Research in Autism Spectrum Disorders, 13–14, 1–7.CrossRefGoogle Scholar
  105. Lai, M. C., Lombardo, M. V., Pasco, G., Ruigrok, A. N., Wheelwright, S. J., Sadek, S. A., Chakrabarti, B., Baron-Cohen, S., & Consortium, M. A. (2011). A behavioral comparison of male and female adults with high functioning autism spectrum conditions. PLoS ONE, 6(6), e20835.PubMedPubMedCentralCrossRefGoogle Scholar
  106. Lai, M.-C, Lombardo, M. V., Ruigrok, A. N. V., Chakrabarti, B., Wheelwright, S. J., Auyeung B., et al. (2012) Cognition in males and females with autism: similarities and differences. PLoS ONE 7(10):e47198. doi: 10.1371/journal.pone.0047198
  107. Lai, D. C., Tseng, Y. C., Hou, Y. M., & Guo, H. R. (2012). Gender and geographic differences in the prevalence of autism spectrum disorders in children: analysis of data from the national disability registry of Taiwan. Research in Developmental Disabilities, 33(3), 909–915.PubMedCrossRefGoogle Scholar
  108. Lai, M. C., Lombardo, M. V., Suckling, J., Ruigrok, A. N., Chakrabarti, B., Ecker, C., Deoni, S. C., Craig, M. C., Murphy, D. G., Bullmore, E. T., Baron-Cohen, S., & Consortium, M.A. (2013). Biological sex affects the neurobiology of autism. Brain, 136(Pt 9), 2799–2815.PubMedPubMedCentralCrossRefGoogle Scholar
  109. Lai, M. C., Baron-Cohen, S., & Buxbaum, J. D. (2015a). Understanding autism in the light of sex/gender. Molecular Autism, 6, 24.PubMedPubMedCentralCrossRefGoogle Scholar
  110. Lai, M. C., Lombardo, M. V., Auyeung, B., Chakrabarti, B., & Baron-Cohen, S. (2015b). Sex/gender differences and autism: setting the scene for future research. Journal of the American Academy of Child and Adolescent Psychiatry, 54(1), 11–24.PubMedPubMedCentralCrossRefGoogle Scholar
  111. Lainhart, J. E., Piven, J., Wzorek, M., Landa, R., Santangelo, S. L., Coon, H., & Folstein, S. E. (1997). Macrocephaly in children and adults with autism. Journal of the American Academy of Child and Adolescent Psychiatry, 36(2), 282–290.PubMedCrossRefGoogle Scholar
  112. Lamb, J. A., Barnby, G., Bonora, E., Sykes, N., Bacchelli, E., Blasi, F., Maestrini, E., Broxholme, J., Tzenova, J., Weeks, D., Bailey, A. J., Monaco, A. P., & I. M. G. S. o. A. C. (2005). Analysis of IMGSAC autism susceptibility loci: evidence for sex limited and parent of origin specific effects. Journal of Medical Genetics, 42(2), 132–137.PubMedPubMedCentralCrossRefGoogle Scholar
  113. Lenroot, R. K., & Giedd, J. N. (2010). Sex differences in the adolescent brain. Brain and Cognition, 72(1), 46–55.PubMedCrossRefGoogle Scholar
  114. Lenroot, R. K., Gogtay, N., Greenstein, D. K., Wells, E. M., Wallace, G. L., Clasen, L. S., Blumenthal, J. D., Lerch, J., Zijdenbos, A. P., Evans, A. C., Thompson, P. M., & Giedd, J. N. (2007). Sexual dimorphism of brain developmental trajectories during childhood and adolescence. NeuroImage, 36(4), 1065–1073.PubMedPubMedCentralCrossRefGoogle Scholar
  115. Levey, A. I., Hersch, S. M., Rye, D. B., Sunahara, R. K., Niznik, H. B., Kitt, C. A., Price, D. L., Maggio, R., Brann, M. R., & Ciliax, B. J. (1993). Localization of D1 and D2 dopamine receptors in brain with subtype-specific antibodies. Proceedings of the National Academy of Sciences of the United States of America, 90(19), 8861–8865.PubMedPubMedCentralCrossRefGoogle Scholar
  116. Levy, D., Ronemus, M., Yamrom, B., Lee, Y. H., Leotta, A., Kendall, J., Marks, S., Lakshmi, B., Pai, D., Ye, K., Buja, A., Krieger, A., Yoon, S., Troge, J., Rodgers, L., Iossifov, I., & Wigler, M. (2011). Rare de novo and transmitted copy-number variation in autistic spectrum disorders. Neuron, 70(5), 886–897.PubMedCrossRefGoogle Scholar
  117. Li, N., Chen, G., Song, X., Du, W., & Zheng, X. (2011). Prevalence of autism-caused disability among Chinese children: a national population-based survey. Epilepsy and Behavior, 22(4), 786–789.PubMedCrossRefGoogle Scholar
  118. Lichtenstein, P., Carlstrom, E., Rastam, M., Gillberg, C., & Anckarsater, H. (2010). The genetics of autism spectrum disorders and related neuropsychiatric disorders in childhood. The American Journal of Psychiatry, 167(11), 1357–1363.PubMedCrossRefGoogle Scholar
  119. Lim, S., Naisbitt, S., Yoon, J., Hwang, J. I., Suh, P. G., Sheng, M., & Kim, E. (1999). Characterization of the Shank family of synaptic proteins. Multiple genes, alternative splicing, and differential expression in brain and development. The Journal of Biological Chemistry, 274(41), 29510–29518.PubMedCrossRefGoogle Scholar
  120. Lord, C., & Schopler, E. (1985). Differences in sex ratios in autism as a function of measured intelligence. Journal of Autism and Developmental Disorders, 15(2), 185–193.PubMedCrossRefGoogle Scholar
  121. Lord, C., Schopler, E., & Revicki, D. (1982). Sex differences in autism. Journal of Autism and Developmental Disorders, 12(4), 317–330.PubMedCrossRefGoogle Scholar
  122. Lu, A. T., & Cantor, R. M. (2012). Allowing for sex differences increases power in a GWAS of multiplex autism families. Molecular Psychiatry, 17(2), 215–222.PubMedCrossRefGoogle Scholar
  123. Luders, E., Narr, K. L., Thompson, P. M., Rex, D. E., Jancke, L., Steinmetz, H., & Toga, A. W. (2004). Gender differences in cortical complexity. Nature Neuroscience, 7(8), 799–800.PubMedCrossRefGoogle Scholar
  124. Lundstrom, S., Chang, Z., Rastam, M., Gillberg, C., Larsson, H., Anckarsater, H., & Lichtenstein, P. (2012). Autism spectrum disorders and autistic like traits: similar etiology in the extreme end and the normal variation. Archives of General Psychiatry, 69(1), 46–52.PubMedCrossRefGoogle Scholar
  125. Mackenzie, I. R., Baker, M., West, G., Woulfe, J., Qadi, N., Gass, J., Cannon, A., Adamson, J., Feldman, H., Lindholm, C., Melquist, S., Pettman, R., Sadovnick, A. D., Dwosh, E., Whiteheart, S. W., Hutton, M., & Pickering-Brown, S. M. (2006). A family with tau-negative frontotemporal dementia and neuronal intranuclear inclusions linked to chromosome 17. Brain, 129(Pt 4), 853–867.PubMedCrossRefGoogle Scholar
  126. Majchrzak, M., & Malendowicz, L. K. (1983). Sex differences in adrenocortical structure and function. XII. Stereologic studies of rat adrenal cortex in the course of maturation. Cell and Tissue Research, 232(2), 457–469.PubMedCrossRefGoogle Scholar
  127. Mandic-Maravic, V., Pejovic-Milovancevic, M., Mitkovic-Voncina, M., Kostic, M., Aleksic-Hil, O., Radosavljev-Kircanski, J., Mincic, T., & Lecic-Tosevski, D. (2015). Sex differences in autism spectrum disorders: does sex moderate the pathway from clinical symptoms to adaptive behavior? Scientific Reports, 5(10418), 1–8.Google Scholar
  128. Mandy, W., & Tchanturia, K. (2015). Do women with eating disorders who have social and flexibility difficulties really have autism? A case series. Molecular Autism, 6(6).Google Scholar
  129. Mandy, W., Chilvers, R., Chowdhury, U., Salter, G., Seigal, A., & Skuse, D. (2012). Sex differences in autism spectrum disorder: evidence from a large sample of children and adolescents. Journal of Autism and Developmental Disorders, 42(7), 1304–1313.PubMedCrossRefGoogle Scholar
  130. Mattila, M. L., Kielinen, M., Linna, S. L., Jussila, K., Ebeling, H., Bloigu, R., Joseph, R. M., & Moilanen, I. (2011). Autism spectrum disorders according to DSM-IV-TR and comparison with DSM-5 draft criteria: an epidemiological study. Journal of the American Academy of Child and Adolescent Psychiatry, 50(6), 583.e511–592.e511.CrossRefGoogle Scholar
  131. May, T., Cornish, K., & Rinehart, N.J. (2012). Gender profiles of behavioral attention in children with autism spectrum disorder. Journal of Attention Disorders.Google Scholar
  132. May, T., Cornish, K., & Rinehart, N. (2014). Does gender matter? A one year follow-up of autistic, attention and anxiety symptoms in high-functioning children with autism spectrum disorder. Journal of Autism and Developmental Disorders, 44(5), 1077–1086.PubMedCrossRefGoogle Scholar
  133. McCarthy, M. M., & Arnold, A. P. (2011). Reframing sexual differentiation of the brain. Nature Neuroscience, 14(6), 677–683.PubMedPubMedCentralCrossRefGoogle Scholar
  134. Messinger, D. S., Young, G. S., Webb, S. J., Ozonoff, S., Bryson, S. E., Carter, A., Carver, L., Charman, T., Chawarska, K., Curtin, S., Dobkins, K., Hertz-Picciotto, I., Hutman, T., Iverson, J. M., Landa, R., Nelson, C. A., Stone, W. L., Tager-Flusberg, H. and Zwaigenbaum, L. (2015). Early sex differences are not autism-specific: A Baby Siblings Research Consortium (BSRC) study. Molecular Autism 6, 32.Google Scholar
  135. Miles, J. H., & Hillman, R. E. (2000). Value of a clinical morphology examination in autism. American Journal of Medical Genetics, 91(4), 245–253.PubMedCrossRefGoogle Scholar
  136. Miller, M., Bales, K. L., Taylor, S. L., Yoon, J., Hostetler, C. M., Carter, C. S., & Solomon, M. (2013). Oxytocin and vasopressin in children and adolescents with autism spectrum disorders: sex differences and associations with symptoms. Autism Research, 6(2), 91–102.PubMedPubMedCentralCrossRefGoogle Scholar
  137. Money, K. M., & Stanwood, G. D. (2013). Developmental origins of brain disorders: roles for dopamine. Frontiers in Cellular Neuroscience, 7, 260.PubMedPubMedCentralCrossRefGoogle Scholar
  138. Montiel-Nava, C., & Peña, J. A. (2008). Epidemiological findings of pervasive developmental disorders in a Venezuelan study. Autism, 12(2), 191–202.PubMedCrossRefGoogle Scholar
  139. Mukamel, Z., Konopka, G., Wexler, E., Osborn, G. E., Dong, H., Bergman, M. Y., Levitt, P., & Geschwind, D. H. (2011). Regulation of MET by FOXP2, genes implicated in higher cognitive dysfunction and autism risk. Journal of Neuroscience, 31(32), 11437–11442.PubMedPubMedCentralCrossRefGoogle Scholar
  140. Nava, C., Lamari, F., Heron, D., Mignot, C., Rastetter, A., Keren, B., Cohen, D., Faudet, A., Bouteiller, D., Gilleron, M., Jacquette, A., Whalen, S., Afenjar, A., Perisse, D., Laurent, C., Dupuits, C., Gautier, C., Gerard, M., Huguet, G., Caillet, S., Leheup, B., Leboyer, M., Gillberg, C., Delorme, R., Bourgeron, T., Brice, A., & Depienne, C. (2012). Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE. Transcultural Psychiatry, 2, e179.CrossRefGoogle Scholar
  141. Neale, B. M., Kou, Y., Liu, L., Ma’ayan, A., Samocha, K. E., Sabo, A., Lin, C. F., Stevens, C., Wang, L. S., Makarov, V., Polak, P., Yoon, S., Maguire, J., Crawford, E. L., Campbell, N. G., Geller, E. T., Valladares, O., Schafer, C., Liu, H., Zhao, T., Cai, G., Lihm, J., Dannenfelser, R., Jabado, O., Peralta, Z., Nagaswamy, U., Muzny, D., Reid, J. G., Newsham, I., Wu, Y., Lewis, L., Han, Y., Voight, B. F., Lim, E., Rossin, E., Kirby, A., Flannick, J., Fromer, M., Shakir, K., Fennell, T., Garimella, K., Banks, E., Poplin, R., Gabriel, S., DePristo, M., Wimbish, J. R., Boone, B. E., Levy, S. E., Betancur, C., Sunyaev, S., Boerwinkle, E., Buxbaum, J. D., Cook, E. H., Jr., Devlin, B., Gibbs, R. A., Roeder, K., Schellenberg, G. D., Sutcliffe, J. S., & Daly, M. J. (2012). Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature, 485(7397), 242–245.PubMedPubMedCentralCrossRefGoogle Scholar
  142. NEDSAC (2013). Estimated prevalence of autism spectrum disorders among children 2–14 years of age in three Canadian regions (2003–2010). Kingston, Ontario, Canada.Google Scholar
  143. Nelson, C. A. (2014). Commentary: becoming social--a commentary on Happé & Frith (2014). Journal of Child Psychology and Psychiatry, 55(6), 578–581.PubMedPubMedCentralCrossRefGoogle Scholar
  144. Nguyen, C., & Ronald, A. (2014). How do girls with low functioning autism compare to boys with autism and typically developing girls with regard to behavior, cognition, and psychopathology? Scandinavian Journal of Child and Adolescent Psychiatry and Psychology, 2(2), 55–65.CrossRefGoogle Scholar
  145. Nordahl, C. W., Iosif, A. M., Young, G. S., Perry, L. M., Dougherty, R., Lee, A., Li, D., Buonocore, M. H., Simon, T., Rogers, S., Wandell, B., & Amaral, D. G. (2015). Sex differences in the corpus callosum in preschool-aged children with autism spectrum disorder. Molecular Autism, 6, 26.PubMedPubMedCentralCrossRefGoogle Scholar
  146. O’Roak, B. J., Vives, L., Girirajan, S., Karakoc, E., Krumm, N., Coe, B. P., Levy, R., Ko, A., Lee, C., Smith, J. D., Turner, E. H., Stanaway, I. B., Vernot, B., Malig, M., Baker, C., Reilly, B., Akey, J. M., Borenstein, E., Rieder, M. J., Nickerson, D. A., Bernier, R., Shendure, J., & Eichler, E. E. (2012). Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature, 485(7397), 246–250.PubMedPubMedCentralCrossRefGoogle Scholar
  147. Ozonoff, S., Young, G. S., Carter, A., Messinger, D., Yirmiya, N., Zwaigenbaum, L., Bryson, S., Carver, L. J., Constantino, J. N., Dobkins, K., Hutman, T., Iverson, J. M., Landa, R., Rogers, S. J., Sigman, M., & Stone, W. L. (2011). Recurrence risk for autism spectrum disorders: a baby siblings research consortium study. Pediatrics, 128(3), e488–e495.PubMedPubMedCentralGoogle Scholar
  148. Pelphrey, K. A., Yang, D. Y., & McPartland, J. C. (2014). Building a social neuroscience of autism spectrum disorder. Current Topics in Behavioral Neurosciences, 16, 215–233.PubMedCrossRefGoogle Scholar
  149. Peper, J. S., Hulshoff Pol, H. E., Crone, E. A., & van Honk, J. (2011). Sex steroids and brain structure in pubertal boys and girls: a mini-review of neuroimaging studies. Neuroscience, 191, 28–37.PubMedCrossRefGoogle Scholar
  150. Philippi, A., Tores, F., Carayol, J., Rousseau, F., Letexier, M., Roschmann, E., Lindenbaum, P., Benajjou, A., Fontaine, K., Vazart, C., Gesnouin, P., Brooks, P., & Hager, J. (2007). Association of autism with polymorphisms in the paired-like homeodomain transcription factor 1 (PITX1) on chromosome 5q31: a candidate gene analysis. BMC Medical Genetics, 8, 74.PubMedPubMedCentralCrossRefGoogle Scholar
  151. Pickles, A., Starr, E., Kazak, S., Bolton, P., Papanikolaou, K., Bailey, A., Goodman, R., & Rutter, M. (2000). Variable expression of the autism broader phenotype: findings from extended pedigrees. Journal of Child Psychology and Psychiatry, 41(4), 491–502.PubMedCrossRefGoogle Scholar
  152. Pilowsky, T., Yirmiya, N., Shulman, C., & Dover, R. (1998). The autism diagnostic interview-revised and the childhood autism rating scale: differences between diagnostic systems and comparison between genders. Journal of Autism and Developmental Disorders, 28(2), 143–151.PubMedCrossRefGoogle Scholar
  153. Pisula, E., Kawa, R., Szostakiewicz, Ł., Łucka, I., Kawa, M., & Rynkiewicz, A. (2013). Autistic traits in male and female students and individuals with high functioning autism spectrum disorders measured by the Polish version of the autism-spectrum quotient. PLoS ONE, 8(9), e75236.PubMedPubMedCentralCrossRefGoogle Scholar
  154. Piven, J., Arndt, S., Bailey, J., & Andreasen, N. (1996). Regional brain enlargement in autism: a magnetic resonance imaging study. Journal of the American Academy of Child and Adolescent Psychiatry, 35(4), 530–536.PubMedCrossRefGoogle Scholar
  155. Plummer, J. T., Evgrafov, O. V., Bergman, M. Y., Friez, M., Haiman, C. A., Levitt, P., & Aldinger, K. A. (2013). Transcriptional regulation of the MET receptor tyrosine kinase gene by MeCP2 and sex-specific expression in autism and Rett syndrome. Transcultural Psychiatry, 3, e316.CrossRefGoogle Scholar
  156. Posthuma, D., & Polderman, T. J. (2013). What have we learned from recent twin studies about the etiology of neurodevelopmental disorders? Current Opinion in Neurology, 26(2), 111–121.PubMedCrossRefGoogle Scholar
  157. Redcay, E., & Courchesne, E. (2005). When is the brain enlarged in autism? A meta-analysis of all brain size reports. Biological Psychiatry, 58(1), 1–9.PubMedCrossRefGoogle Scholar
  158. Reinhardt, V. P., Wetherby, A. M., Schatschneider, C., & Lord, C. (2015). Examination of sex differences in a large sample of young children with autism spectrum disorder and typical development. Journal of Autism and Developmental Disorders, 45(3), 697–706.PubMedPubMedCentralCrossRefGoogle Scholar
  159. Ritvo, E. R., Freeman, B. J., Mason-Brothers, A., Mo, A., & Ritvo, A. M. (1985). Concordance for the syndrome of autism in 40 pairs of afflicted twins. The American Journal of Psychiatry, 142(1), 74–77.PubMedCrossRefGoogle Scholar
  160. Rivet, T. T., & Matson, J. L. (2011). Review of gender differences in core symptomatology in autism spectrum disorders. Research in Autism Spectrum Disorders, 5(3), 957–976.CrossRefGoogle Scholar
  161. Robinson, E. B., Koenen, K. C., McCormick, M. C., Munir, K., Hallett, V., Happe, F., Plomin, R., & Ronald, A. (2012). A multivariate twin study of autistic traits in 12-year-olds: testing the fractionable autism triad hypothesis. Behavior Genetics, 42(2), 245–255.PubMedCrossRefGoogle Scholar
  162. Robinson, E. B., Lichtenstein, P., Anckarsäter, H., Happé, F., & Ronald, A. (2013). Examining and interpreting the female protective effect against autistic behavior. Proceedings of the National Academy of Sciences of the United States of America, 110(13), 5258–5262.PubMedPubMedCentralCrossRefGoogle Scholar
  163. Ronald, A., & Hoekstra, R. A. (2011). Autism spectrum disorders and autistic traits: a decade of new twin studies. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 156B(3), 255–274.CrossRefGoogle Scholar
  164. Ronald, A., Happe, F., & Plomin, R. (2005). The genetic relationship between individual differences in social and nonsocial behaviours characteristic of autism. Developmental Science, 8(5), 444–458.PubMedCrossRefGoogle Scholar
  165. Ronald, A., Happe, F., Bolton, P., Butcher, L. M., Price, T. S., Wheelwright, S., Baron-Cohen, S., & Plomin, R. (2006). Genetic heterogeneity between the three components of the autism spectrum: a twin study. Journal of the American Academy of Child and Adolescent Psychiatry, 45(6), 691–699.PubMedCrossRefGoogle Scholar
  166. Rosenberg, R. E., Law, J. K., Yenokyan, G., McGready, J., Kaufmann, W. E., & Law, P. A. (2009). Characteristics and concordance of autism spectrum disorders among 277 twin pairs. Archives of Pediatrics & Adolescent Medicine, 163(10), 907–914.CrossRefGoogle Scholar
  167. Ross, J. L., Roeltgen, D. P., Kushner, H., Zinn, A. R., Reiss, A., Bardsley, M. Z., McCauley, E., & Tartaglia, N. (2012). Behavioral and social phenotypes in boys with 47, XYY syndrome or 47, XXY Klinefelter syndrome. Pediatrics, 129(4), 769–778.PubMedPubMedCentralCrossRefGoogle Scholar
  168. Rudie, J. D., & Dapretto, M. (2013). Convergent evidence of brain overconnectivity in children with autism? Cell Reports, 5(3), 565–566.PubMedCrossRefGoogle Scholar
  169. Rudie, J. D., Hernandez, L. M., Brown, J. A., Beck-Pancer, D., Colich, N. L., Gorrindo, P., Thompson, P. M., Geschwind, D. H., Bookheimer, S. Y., Levitt, P., & Dapretto, M. (2012). Autism-associated promoter variant in MET impacts functional and structural brain networks. Neuron, 75(5), 904–915.PubMedPubMedCentralCrossRefGoogle Scholar
  170. Sajan, S. A., Fernandez, L., Nieh, S. E., Rider, E., Bukshpun, P., Wakahiro, M., Christian, S. L., Rivière, J. B., Sullivan, C. T., Sudi, J., Herriges, M. J., Paciorkowski, A. R., Barkovich, A. J., Glessner, J. T., Millen, K. J., Hakonarson, H., Dobyns, W. B., & Sherr, E. H. (2013). Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria. PLoS Genetics, 9(10), e1003823.PubMedPubMedCentralCrossRefGoogle Scholar
  171. Samadi, S. A., Mahmoodizadeh, A., & McConkey, R. (2012). A national study of the prevalence of autism among five-year-old children in Iran. Autism, 16(1), 5–14.PubMedCrossRefGoogle Scholar
  172. Sanders, S. J., Murtha, M. T., Gupta, A. R., Murdoch, J. D., Raubeson, M. J., Willsey, A. J., Ercan-Sencicek, A. G., DiLullo, N. M., Parikshak, N. N., Stein, J. L., Walker, M. F., Ober, G. T., Teran, N. A., Song, Y., El-Fishawy, P., Murtha, R. C., Choi, M., Overton, J. D., Bjornson, R. D., Carriero, N. J., Meyer, K. A., Bilguvar, K., Mane, S. M., Sestan, N., Lifton, R. P., Günel, M., Roeder, K., Geschwind, D. H., Devlin, B., & State, M. W. (2012). De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature, 485(7397), 237–241.PubMedPubMedCentralCrossRefGoogle Scholar
  173. Sarachana, T., Xu, M., Wu, R. C., & Hu, V. W. (2011). Sex hormones in autism: androgens and estrogens differentially and reciprocally regulate RORA, a novel candidate gene for autism. PLoS ONE, 6(2), e17116.PubMedPubMedCentralCrossRefGoogle Scholar
  174. Sato, D., Lionel, A. C., Leblond, C. S., Prasad, A., Pinto, D., Walker, S., O’Connor, I., Russell, C., Drmic, I. E., Hamdan, F. F., Michaud, J. L., Endris, V., Roeth, R., Delorme, R., Huguet, G., Leboyer, M., Rastam, M., Gillberg, C., Lathrop, M., Stavropoulos, D. J., Anagnostou, E., Weksberg, R., Fombonne, E., Zwaigenbaum, L., Fernandez, B. A., Roberts, W., Rappold, G. A., Marshall, C. R., Bourgeron, T., Szatmari, P., & Scherer, S. W. (2012). SHANK1 deletions in males with autism spectrum disorder. American Journal of Human Genetics, 90(5), 879–887.PubMedPubMedCentralCrossRefGoogle Scholar
  175. Schaafsma, S. M., & Pfaff, D. W. (2014). Etiologies underlying sex differences in autism spectrum disorders. Frontiers in Neuroendocrinology, 35(3), 255–271.PubMedCrossRefGoogle Scholar
  176. Schellenberg, G.D., Dawson, G., Sung, Y.J., Estes, A., Munson, J., Rosenthal, E., Rothstein, J., Flodman, P., Smith, M., Coon, H., Leong, L., Yu, C.E., Stodgell, C., Rodier, P.M., Spence, M.A., Minshew, N., McMahon, W.M., & Wijsman, E.M. (2006). Evidence for multiple loci from a genome scan of autism kindreds. Molecular Psychiatry, 11(11), 1049–1060, 1979.Google Scholar
  177. Schumann, C. M., Bloss, C. S., Barnes, C. C., Wideman, G. M., Carper, R. A., Akshoomoff, N., Pierce, K., Hagler, D., Schork, N., Lord, C., & Courchesne, E. (2010). Longitudinal magnetic resonance imaging study of cortical development through early childhood in autism. Journal of Neuroscience, 30(12), 4419–4427.PubMedPubMedCentralCrossRefGoogle Scholar
  178. Scourfield, J., Martin, N., Lewis, G., & McGuffin, P. (1999). Heritability of social cognitive skills in children and adolescents. British Journal of Psychiatry, 175, 559–564.PubMedCrossRefGoogle Scholar
  179. Sebat, J., Lakshmi, B., Malhotra, D., Troge, J., Lese-Martin, C., Walsh, T., Yamrom, B., Yoon, S., Krasnitz, A., Kendall, J., Leotta, A., Pai, D., Zhang, R., Lee, Y. H., Hicks, J., Spence, S. J., Lee, A. T., Puura, K., Lehtimäki, T., Ledbetter, D., Gregersen, P. K., Bregman, J., Sutcliffe, J. S., Jobanputra, V., Chung, W., Warburton, D., King, M. C., Skuse, D., Geschwind, D. H., Gilliam, T. C., Ye, K., & Wigler, M. (2007). Strong association of de novo copy number mutations with autism. Science, 316(5823), 445–449.PubMedPubMedCentralCrossRefGoogle Scholar
  180. Sheen, V. L., Wheless, J. W., Bodell, A., Braverman, E., Cotter, P. D., Rauen, K. A., Glenn, O., Weisiger, K., Packman, S., Walsh, C. A., & Sherr, E. H. (2003). Periventricular heterotopia associated with chromosome 5p anomalies. Neurology, 60(6), 1033–1036.PubMedCrossRefGoogle Scholar
  181. Sipes, M., Matson, J. L., Worley, J. A., & Kozlowski, A. M. (2011). Gender differences in symptoms of autism spectrum disorders in toddlers. Research in Autism Spectrum Disorders, 5(4), 1465–1470.CrossRefGoogle Scholar
  182. Sisk, C. L., & Zehr, J. L. (2005). Pubertal hormones organize the adolescent brain and behavior. Frontiers in Neuroendocrinology, 26(3–4), 163–174.PubMedCrossRefGoogle Scholar
  183. Skuse, D. H., James, R. S., Bishop, D. V., Coppin, B., Dalton, P., Aamodt-Leeper, G., Bacarese-Hamilton, M., Creswell, C., McGurk, R., & Jacobs, P. A. (1997). Evidence from Turner’s syndrome of an imprinted X-linked locus affecting cognitive function. Nature, 387(6634), 705–708.PubMedCrossRefGoogle Scholar
  184. Skuse, D. H., Mandy, W. P., & Scourfield, J. (2005). Measuring autistic traits: heritability, reliability and validity of the social and communication disorders checklist. British Journal of Psychiatry, 187, 568–572.PubMedCrossRefGoogle Scholar
  185. Solomon, M., Miller, M., Taylor, S. L., Hinshaw, S. P., & Carter, C. S. (2012). Autism symptoms and internalizing psychopathology in girls and boys with autism spectrum disorders. Journal of Autism and Developmental Disorders, 42(1), 48–59.PubMedCrossRefGoogle Scholar
  186. Sparks, B. F., Friedman, S. D., Shaw, D. W., Aylward, E. H., Echelard, D., Artru, A. A., Maravilla, K. R., Giedd, J. N., Munson, J., Dawson, G., & Dager, S. R. (2002). Brain structural abnormalities in young children with autism spectrum disorder. Neurology, 59(2), 184–192.PubMedCrossRefGoogle Scholar
  187. Stacy, M. E., Zablotsky, B., Yarger, H. A., Zimmerman, A., Makia, B., & Lee, L. C. (2014). Sex differences in co-occurring conditions of children with autism spectrum disorders. Autism, 18(8), 965–974.PubMedCrossRefGoogle Scholar
  188. Steffenburg, S., Gillberg, C., Hellgren, L., Andersson, L., Gillberg, I. C., Jakobsson, G., & Bohman, M. (1989). A twin study of autism in Denmark, Finland, Iceland, Norway and Sweden. Journal of Child Psychology and Psychiatry, 30(3), 405–416.PubMedCrossRefGoogle Scholar
  189. Stone, J. L., Merriman, B., Cantor, R. M., Yonan, A. L., Gilliam, T. C., Geschwind, D. H., & Nelson, S. F. (2004). Evidence for sex-specific risk alleles in autism spectrum disorder. American Journal of Human Genetics, 75(6), 1117–1123.PubMedPubMedCentralCrossRefGoogle Scholar
  190. Szatmari, P., Paterson, A. D., Zwaigenbaum, L., Roberts, W., Brian, J., Liu, X. Q., Vincent, J. B., Skaug, J. L., Thompson, A. P., Senman, L., Feuk, L., Qian, C., Bryson, S. E., Jones, M. B., Marshall, C. R., Scherer, S. W., Vieland, V. J., Bartlett, C., Mangin, L. V., Goedken, R., Segre, A., Pericak-Vance, M. A., Cuccaro, M. L., Gilbert, J. R., Wright, H. H., Abramson, R. K., Betancur, C., Bourgeron, T., Gillberg, C., Leboyer, M., Buxbaum, J. D., Davis, K. L., Hollander, E., Silverman, J. M., Hallmayer, J., Lotspeich, L., Sutcliffe, J. S., Haines, J. L., Folstein, S. E., Piven, J., Wassink, T. H., Sheffield, V., Geschwind, D. H., Bucan, M., Brown, W. T., Cantor, R. M., Constantino, J. N., Gilliam, T. C., Herbert, M., Lajonchere, C., Ledbetter, D. H., Lese-Martin, C., Miller, J., Nelson, S., Samango-Sprouse, C. A., Spence, S., State, M., Tanzi, R. E., Coon, H., Dawson, G., Devlin, B., Estes, A., Flodman, P., Klei, L., McMahon, W. M., Minshew, N., Munson, J., Korvatska, E., Rodier, P. M., Schellenberg, G. D., Smith, M., Spence, M. A., Stodgell, C., Tepper, P. G., Wijsman, E. M., Yu, C. E., Rogé, B., Mantoulan, C., Wittemeyer, K., Poustka, A., Felder, B., Klauck, S. M., Schuster, C., Poustka, F., Bölte, S., Feineis-Matthews, S., Herbrecht, E., Schmötzer, G., Tsiantis, J., Papanikolaou, K., Maestrini, E., Bacchelli, E., Blasi, F., Carone, S., Toma, C., Van Engeland, H., de Jonge, M., Kemner, C., Koop, F., Langemeijer, M., Hijmans, C., Hijimans, C., Staal, W. G., Baird, G., Bolton, P. F., Rutter, M. L., Weisblatt, E., Green, J., Aldred, C., Wilkinson, J. A., Pickles, A., Le Couteur, A., Berney, T., McConachie, H., Bailey, A. J., Francis, K., Honeyman, G., Hutchinson, A., Parr, J. R., Wallace, S., Monaco, A. P., Barnby, G., Kobayashi, K., Lamb, J. A., Sousa, I., Sykes, N., Cook, E. H., Guter, S. J., Leventhal, B. L., Salt, J., Lord, C., Corsello, C., Hus, V., Weeks, D. E., Volkmar, F., Tauber, M., Fombonne, E., Shih, A., Meyer, K. J., & Consortium, A. G. P. (2007). Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nature Genetics, 39(3), 319–328.PubMedPubMedCentralCrossRefGoogle Scholar
  191. Szatmari, P., Liu, X. Q., Goldberg, J., Zwaigenbaum, L., Paterson, A. D., Woodbury-Smith, M., Georgiades, S., Duku, E., & Thompson, A. (2012). Sex differences in repetitive stereotyped behaviors in autism: implications for genetic liability. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 159B(1), 5–12.PubMedCrossRefGoogle Scholar
  192. Taniai, H., Nishiyama, T., Miyachi, T., Imaeda, M., & Sumi, S. (2008). Genetic influences on the broad spectrum of autism: study of proband-ascertained twins. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 147B(6), 844–849.CrossRefGoogle Scholar
  193. Taylor, B., Jick, H., & Maclaughlin, D. (2013). Prevalence and incidence rates of autism in the UK: time trend from 2004 to 2010 in children aged 8 years. BMJ Open, 3(10), e003219.PubMedPubMedCentralCrossRefGoogle Scholar
  194. Tepest, R., Jacobi, E., Gawronski, A., Krug, B., Möller-Hartmann, W., Lehnhardt, F. G., & Vogeley, K. (2010). Corpus callosum size in adults with high-functioning autism and the relevance of gender. Psychiatry Research, 183(1), 38–43.PubMedCrossRefGoogle Scholar
  195. Thomas, N. S., Sharp, A. J., Browne, C. E., Skuse, D., Hardie, C., & Dennis, N. R. (1999). Xp deletions associated with autism in three females. Human Genetics, 104(1), 43–48.PubMedCrossRefGoogle Scholar
  196. Tsai, L. Y., & Beisler, J. M. (1983). The development of sex differences in infantile autism. British Journal of Psychiatry, 142, 373–378.PubMedCrossRefGoogle Scholar
  197. Tsai, L., Stewart, M. A., & August, G. (1981). Implication of sex differences in the familial transmission of infantile autism. Journal of Autism and Developmental Disorders, 11(2), 165–173.PubMedCrossRefGoogle Scholar
  198. van Rijn, S., Bierman, M., Bruining, H., & Swaab, H. (2012). Vulnerability for autism traits in boys and men with an extra X chromosome (47, XXY): the mediating role of cognitive flexibility. Journal of Psychiatric Research, 46(10), 1300–1306.PubMedCrossRefGoogle Scholar
  199. van Steensel, M. A., Vreeburg, M., Engelen, J., Ghesquiere, S., Stegmann, A. P., Herbergs, J., van Lent, J., Smeets, B., & Vles, J. H. (2008). Contiguous gene syndrome due to a maternally inherited 8.41 Mb distal deletion of chromosome band Xp22.3 in a boy with short stature, ichthyosis, epilepsy, mental retardation, cerebral cortical heterotopias and Dandy-Walker malformation. American Journal of Medical Genetics Part A, 146A(22), 2944–2949.PubMedCrossRefGoogle Scholar
  200. Van Wijngaarden-Cremers, P. J., van Eeten, E., Groen, W. B., Van Deurzen, P. A., Oosterling, I. J., & Van der Gaag, R. J. (2014). Gender and age differences in the core triad of impairments in autism spectrum disorders: a systematic review and meta-analysis. Journal of Autism and Developmental Disorders, 44(3), 627–635.PubMedCrossRefGoogle Scholar
  201. Verma, D., Chakraborti, B., Karmakar, A., Bandyopadhyay, T., Singh, A. S., Sinha, S., Chatterjee, A., Ghosh, S., Mohanakumar, K. P., Mukhopadhyay, K., & Rajamma, U. (2014). Sexual dimorphic effect in the genetic association of monoamine oxidase A (MAOA) markers with autism spectrum disorder. Progress in Neuropsychopharmacology and Biological Psychiatry, 50, 11–20.CrossRefGoogle Scholar
  202. Volkmar, F. R., Szatmari, P., & Sparrow, S. S. (1993). Sex differences in pervasive developmental disorders. Journal of Autism and Developmental Disorders, 23(4), 579–591.PubMedCrossRefGoogle Scholar
  203. Weiss, L. (2011). Fair representation for the fairer sex in autism research. Simons Foundation Spectrum Newsletter, (https://spectrumnews.org/opinion/viewpoint/fair-representation-forthe-fairer-sex-in-autism-research/). Accessed 16 Aug 2011.
  204. Werling, D. M., & Geschwind, D. H. (2013a). Sex differences in autism spectrum disorders. Current Opinion in Neurology, 26(2), 146–153.PubMedPubMedCentralCrossRefGoogle Scholar
  205. Werling, D. M., & Geschwind, D. H. (2013b). Understanding sex bias in autism spectrum disorder. Proceedings of the National Academy of Sciences of the United States of America, 110(13), 4868–4869.PubMedPubMedCentralCrossRefGoogle Scholar
  206. Werling, D. M., & Geschwind, D. H. (2015). Recurrence rates provide evidence for sex-differential, familial genetic liability for autism spectrum disorders in multiplex families and twins. Molecular Autism, 6, 27.PubMedPubMedCentralCrossRefGoogle Scholar
  207. Werling, D. M., Lowe, J. K., Luo, R., Cantor, R. M., & Geschwind, D. H. (2014). Replication of linkage at chromosome 20p13 and identification of suggestive sex-differential risk loci for autism spectrum disorder. Molecular Autism, 5(1), 13.PubMedPubMedCentralCrossRefGoogle Scholar
  208. Worley, J. A., & Matson, J. L. (2011). Psychiatric symptoms in children diagnosed with an autism spectrum disorder: an examination of gender differences. Research in Autism Spectrum Disorders, 5(3), 1086–1091.CrossRefGoogle Scholar
  209. Yeargin-Allsopp, M., Rice, C., Karapurkar, T., Doernberg, N., Boyle, C., & Murphy, C. (2003). Prevalence of autism in a US metropolitan area. JAMA, 289(1), 49–55.PubMedCrossRefGoogle Scholar
  210. Yu, J., He, X., Yao, D., Li, Z., Li, H., & Zhao, Z. (2011). A sex-specific association of common variants of neuroligin genes (NLGN3 and NLGN4X) with autism spectrum disorders in a Chinese Han cohort. Behavioral and Brain Functions, 7, 13.PubMedPubMedCentralCrossRefGoogle Scholar
  211. Zettergren, A., Jonsson, L., Johansson, D., Melke, J., Lundström, S., Anckarsäter, H., Lichtenstein, P., & Westberg, L. (2013). Associations between polymorphisms in sex steroid related genes and autistic-like traits. Psychoneuroendocrinology, 38(11), 2575–2584.PubMedCrossRefGoogle Scholar
  212. Zhao, X., Leotta, A., Kustanovich, V., Lajonchere, C., Geschwind, D. H., Law, K., Law, P., Qiu, S., Lord, C., Sebat, J., Ye, K., & Wigler, M. (2007). A unified genetic theory for sporadic and inherited autism. Proceedings of the National Academy of Sciences of the United States of America, 104(31), 12831–12836.PubMedPubMedCentralCrossRefGoogle Scholar
  213. Ziats, M. N., & Rennert, O. M. (2013). Sex-biased gene expression in the developing brain: implications for autism spectrum disorders. Molecular Autism, 4(1), 10.PubMedPubMedCentralCrossRefGoogle Scholar
  214. Zwaigenbaum, L., Bryson, S. E., Szatmari, P., Brian, J., Smith, I. M., Roberts, W., Vaillancourt, T., & Roncadin, C. (2012). Sex differences in children with autism spectrum disorder identified within a high-risk infant cohort. Journal of Autism and Developmental Disorders, 42(12), 2585–2596.PubMedCrossRefGoogle Scholar

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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