Skip to main content
SpringerLink
Log in

A Review of the Role of Female Gender in Autism Spectrum Disorders

  • Original Paper
  • Published:
Journal of Autism and Developmental Disorders Aims and scope Submit manuscript

Abstract

This paper reviews the literature exploring gender differences associated with the clinical presentation of autism spectrum disorders (ASD). The potentially mediating effect of comorbid psychopathology, biological and neurodevelopmental implications on these gender differences is also discussed. A vastly heterogeneous condition, while females on the lower-functioning end of the spectrum appear to be more severely affected, an altered clinical manifestation of the disorder among high-functioning females may consequently result in many being un or misdiagnosed. To date, there is strong bias in the literature towards the clinical presentation of ASD in males. It is imperative that future research explores gender differences across the autism spectrum, in order to improve researchers’, clinicians’ and the publics’ understanding of this debilitating disorder.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Similar content being viewed by others

References

  • American Psychiatric Association. (1994). Diagnostic and statistical manual of mental disorders—Text revision. Washington, DC: American Psychiatric Association.

    Google Scholar 

  • Amiet, C., Gourfinkel-An, I., Bouzamondo, A., Tordjman, S., Baulac, M., Lechat, P., et al. (2008). Epilepsy in autism is associated with intellectual disability and gender: Evidence from a meta-analysis. Biological Psychiatry, 64(7), 577–582.

    Article  PubMed  Google Scholar 

  • Amr, M., Raddad, D., El-Mehesh, F., Mahmoud, E. H., & El-Gilany, A. H. (2011). Sex differences in Arab children with Autism spectrum disorders. Research in Autism Spectrum Disorders, 5(4), 1343–1350.

    Article  Google Scholar 

  • Andersson, G., Gillberg, C., & Miniscalo, C. (2012). Pre-school children with suspected autism spectrum disorders: Do girls and boys have the same profile. Research in Developmental Disabilities, 34, 413–422.

    Article  PubMed  Google Scholar 

  • Angst, J., Gamma, A., Gastpar, M., Lépine, J. P., Mendlewicz, J., & Tylee, A. (2002). Gender differences in depression. European Archives of Psychiatry and Clinical Neuroscience, 252(5), 201–209.

    Article  PubMed  Google Scholar 

  • Attwood, T. (2007). The complete guide to asperger’s syndrome. London: Jessica Kingsley Publishers.

    Google Scholar 

  • Auyeung, B., Baron-Cohen, S., Ashwin, E., Knickmeyer, R., Taylor, K., Hackett, G., et al. (2009). Fetal testosterone predicts sexually differentiated childhood behavior in girls and in boys. Psychological Science, 20(2), 144–148.

    Article  PubMed  Google Scholar 

  • Avner, P., & Heard, E. (2001). X-chromosome inactivation: Counting, choice and initiation. Nature Reviews Genetics, 2(1), 59–66.

    Article  PubMed  Google Scholar 

  • Aylward, E. H., Minshew, N. J., Field, K., Sparks, B. F., & Singh, N. (2002). Effects of age on brain volume and head circumference in autism. Neurology, 59(2), 175–183.

    Article  PubMed  Google Scholar 

  • Badcock, C. (2011). The imprinted brain: How genes set the balance between autism and psychosis. Epigenomics, 3(3), 345–359.

    Article  PubMed  Google Scholar 

  • Balogh, R., Brownell, M., Ouellette-Kuntz, H., & Colantonio, A. (2010). Hospitalisation rates for ambulatory care sensitive conditions for persons with and without an intellectual disability—A population perspective. Journal of Intellectual Disability Research, 54(9), 820–832.

    Article  PubMed  Google Scholar 

  • Banach, R., Thompson, A., Szatmari, P., Goldberg, J., Tuff, L., Zwaigenbaum, L., et al. (2009). Brief report: Relationship between non-verbal IQ and gender in autism. Journal of Autism and Developmental Disorders, 39(1), 188–193.

    Article  PubMed  Google Scholar 

  • Baron-Cohen, S., Knickmeyer, R. C., & Belmonte, M. K. (2005). Sex differences in the brain: Implications for explaining autism. Science, 310(5749), 819–823.

    Article  PubMed  Google Scholar 

  • 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.

    Article  PubMed  Google Scholar 

  • Bauminger, N., & Kasari, C. (2000). Loneliness and friendship in high functioning children with autism. Child Development, 71(2), 447–456.

    Article  PubMed  Google Scholar 

  • Beacher, F., Minati, L., Baron-Cohen, S., Lombardo, M., Lai, M. C., Gray, M., et al. (2012). Autism attenuates sex differences in brain structure: A combined voxel-based morphometry and diffusion tensor imaging study. American Journal of Neuroradiology, 33(1), 83–89.

    Article  PubMed  Google Scholar 

  • Begeer, S., Mandell, D., Wijnker-Holmes, B., Venderbosch, S., Rem, D., Stekelenburg, F., et al. (in press). Sex differences in the timing of identification among children and adults with autism spectrum disorders. Journal of Autism and Developmental Disorders. doi:10.1007/s10803-012-1656-z.

  • Bejerot, S., Eriksson, J. M., Bonde, S., Carlström, K., Humble, M. B., & Eriksson, E. (2012). The extreme male brain revisited: Gender coherence in adults with autism spectrum disorder. The British Journal of Psychiatry, 201(2), 116–123.

    Article  PubMed  Google Scholar 

  • Billstedt, E., Gillberg, I. C., & Gillberg, C. (2007). Autism in adults: Symptom patterns and early childhood predictors. Use of the DISCO in a community sample followed from childhood. Journal of Child Psychology and Psychiatry and Allied Disciplines, 48(11), 1102–1110.

    Article  Google Scholar 

  • Bishop, D. V. M., Jacobs, P. A., Lachlan, K., Wellesley, D., Barnicoat, A., Boyd, P. A., et al. (2011). Autism, language and communication in children with sex chromosome trisomies. Archives of Disease in Childhood, 96(10), 954–959.

    Article  PubMed  Google Scholar 

  • Blatt, J., Deal, A. M., & Mesibov, G. (2010). Autism in children and adolescents with cancer. Pediatric Blood & Cancer, 54(1), 144–147.

    Article  Google Scholar 

  • Bloom, M. S., Houston, A. S., Mills, J. L., Molloy, C. A., & Hediger, M. L. (2010). Finger bone immaturity and 2D:4D ratio measurement error in the assessment of the hyperandrogenic hypothesis for the etiology of autism spectrum disorders. Physiology & Behavior, 100(3), 221–224.

    Article  Google Scholar 

  • 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.

    Article  PubMed  Google Scholar 

  • 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.

    Article  PubMed  Google Scholar 

  • Bolton, P., Macdonald, H., Pickles, A., Rios, P., Goode, S., Crowson, M., et al. (1994). A case-control family history study of autism. Journal of Child Psychology and Psychiatry and Allied Disciplines, 35(5), 877–900.

    Article  Google Scholar 

  • Brugha, T. S., McManus, S., Bankart, J., Scott, F., Purdon, S., Smith, J., et al. (2011). Epidemiology of autism spectrum disorders in adults in the community in England. Archives of General Psychiatry, 68(5), 459–466.

    Article  PubMed  Google Scholar 

  • Bruining, H., Swaab, H., Kas, M., & van Engeland, H. (2009). Psychiatric characteristics in a self-selected sample of boys with Klinefelter syndrome. Pediatrics, 123(5), e865–e870.

    Article  PubMed  Google Scholar 

  • 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.

    Article  PubMed  Google Scholar 

  • Chakrabarti, S., & Fombonne, E. (2005). Pervasive developmental disorders in preschool children: Confirmation of high prevalence. American Journal of Psychiatry, 162(6), 1133–1141.

    Article  PubMed  Google Scholar 

  • Chapman, E., Baron-Cohen, S., Auyeung, B., Knickmeyer, R., Taylor, K., & Hackett, G. (2006). Fetal testosterone and empathy: Evidence from the empathy quotient (EQ) and the “reading the mind in the eyes” test. Social Neuroscience, 1(2), 135–148.

    Article  PubMed  Google Scholar 

  • Charman, T., Pickles, A., Simonoff, E., Chandler, S., Loucas, T., & Baird, G. (2006). IQ in children with autism spectrum disorders: Data from the special needs and autism project (SNAP). Psychological Medicine, 1(1), 1–9.

    Google Scholar 

  • Cheslack-Postava, K., & Jordan-Young, R. M. (2012). Autism spectrum disorders: Toward a gendered embodiment model. Social Science and Medicine, 74(11), 1667–1674.

    Article  PubMed  Google Scholar 

  • Cohen, I. L., Tsiouris, J. A., Flory, M. J., Kim, S.-Y., Freedland, R., Heaney, G., et al. (2010). A large scale study of the psychometric characteristics of the IBR modified overt aggression scale: Findings and evidence for increased self-destructive behaviors in adult females with autism spectrum disorder. Journal of Autism and Developmental Disorders, 40(5), 599–609.

    Article  PubMed  Google Scholar 

  • Constantino, J. N., Zhang, Y., Frazier, T., Abbacchi, A. M., & Law, P. (2010). Sibling recurrence and the genetic epidemiology of autism. The American Journal of Psychiatry, 167(11), 1349–1356.

    Article  PubMed  Google Scholar 

  • Courchesne, E., Carper, R., & Akshoomoff, N. (2003). Evidence of brain overgrowth in the first year of life in autism. JAMA: The Journal of the American Medical Association, 290(3), 337–344.

    Google Scholar 

  • Courchesne, E., Karns, C. M., Davis, H. R., Ziccardi, R., Carper, R. A., Tigue, Z. D., et al. (2001). Unusual brain growth patterns in early life in patients with autistic disorder: An MRI study. Neurology, 57(2), 245–254.

    Article  PubMed  Google Scholar 

  • 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.

    Article  Google Scholar 

  • Danielsson, S., Gillberg, I. C., Billstedt, E., Gillberg, C., & Olsson, I. (2005). Epilepsy in young adults with autism: A prospective population based follow up study of 120 individuals diagnosed in childhood. Epilepsia, 46(6), 918–923.

    Article  PubMed  Google Scholar 

  • de Vries, A. L. C., Noens, I. L. J., Cohen-Kettenis, P. T., van Berckelaer-Onnes, I. A., & Doreleijers, T. A. (2010). Autism spectrum disorders in gender dysphoric children and adolescents. Journal of Autism and Developmental Disorders, 40(8), 930–936.

    Article  PubMed  Google Scholar 

  • 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, 788–797.

    Article  PubMed  Google Scholar 

  • Edens, A. C., Lyons, M. J., Duron, R. M., Dupont, B. R., & Holden, K. R. (2011). Autism in two females with duplications involving Xp11.22-p11.23. Developmental Medicine and Child Neurology, 53(5), 463–466.

    Article  PubMed  Google Scholar 

  • Fombonne, E. (1999). The epidemiology of autism: A review. Psychological Medicine, 29(4), 769–786.

    Article  PubMed  Google Scholar 

  • Fombonne, E. (2003). Epidemiological surveys of autism and other pervasive developmental disorders: An update. Journal of Autism and Developmental Disorders, 33(4), 365–382.

    Article  PubMed  Google Scholar 

  • Fombonne, E. (2009). Epidemiology of pervasive developmental disorders. Pediatric Research, 65(6), 591–598.

    Article  PubMed  Google Scholar 

  • Gabis, L., Pomeroy, J., & Andriola, M. R. (2005). Autism and epilepsy: Cause, consequence, comorbidity, or coincidence? Epilepsy & Behavior, 7(4), 652–656.

    Article  Google Scholar 

  • Giarelli, E., Wiggins, L. D., Rice, C. E., Levy, S. E., Kirby, R. S., Pinto-Martin, J., et al. (2010). Sex differences in the evaluation and diagnosis of autism spectrum disorders among children. Disability & Health Journal, 3(2), 107–116.

    Article  Google Scholar 

  • Giedd, J. N., Blumenthal, J., Jeffries, N. O., Castellanos, F. X., Liu, H., Zijdenbos, A., et al. (1999). Brain development during childhood and adolescence: A longitudinal MRI study. Nature Neuroscience, 2, 861–862.

    Article  PubMed  Google Scholar 

  • Gillberg, I. C., Rastam, M., Wentz, E., & Gillberg, C. (2007). Cognitive and executive functions in anorexia nervosa ten years after onset of eating disorder. Journal of Clinical & Experimental Neuropsychology: Official Journal of the International Neuropsychological Society, 29(2), 170–178.

    Article  Google Scholar 

  • 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.

    Article  PubMed  Google Scholar 

  • Goin-Kochel, R. P., Abbacchi, A., Constantino, J. N., & Autism Genetic Resource Exchange Consortium. (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.

    Google Scholar 

  • Gong, X., Bacchelli, E., Blasi, F., Toma, C., Betancur, C., Chaste, P., et al. (2008). Analysis of X chromosome inactivation in autism spectrum disorders. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics: the Official Publication of the International Society of Psychiatric Genetics, 147B(6), 830–835.

    Article  Google Scholar 

  • Hackler, J. (1986). Treatment of compulsive eating disorders in an autistic girl by combining behavior therapy and pharmacotherapy. Case report. Zeitschrift fur Kinder- und Jugendpsychiatrie, 14(3), 220–227.

    PubMed  Google Scholar 

  • Hallmayer, J., Cleveland, S., Torres, A., Phillips, J., Cohen, B., Torigoe, T., et al. (2011). Genetic heritability and shared environmental factors among twin pairs with autism. Archives of General Psychiatry, 68(11), 1095–1105.

    Article  PubMed  Google Scholar 

  • Hara, H. (2007). Autism and epilepsy: A retrospective follow-up study. Brain and Development, 29(8), 486–490.

    Article  PubMed  Google Scholar 

  • 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.

    Article  PubMed  Google Scholar 

  • Hofvander, B., Delorme, R., Chaste, P., Nydén, A., Wentz, E., Stahlberg, O., et al. (2009). Psychiatric and psychosocial problems in adults with normal-intelligence autism spectrum disorders. BMC Psychiatry, 9, 35.

    Article  PubMed  Google Scholar 

  • Holtmann, M., Bölte, S., & Poustka, F. (2007). Autism spectrum disorders: Sex differences in autistic behavior domains and coexisting psychopathology. Developmental Medicine and Child Neurology, 49(5), 361–366.

    Article  PubMed  Google Scholar 

  • Horovitz, M., Matson, J. L., & Sipes, M. (2011). Gender differences in symptoms of comorbidity in toddlers with ASD using the BISCUIT-Part 2. Developmental Neurorehabilitation, 14(2), 94–100.

    Article  PubMed  Google Scholar 

  • Ingudomnukul, E., Baron-Cohen, S., Wheelwright, S., & Knickmeyer, R. (2007). Elevated rates of testosterone-related disorders in women with autism spectrum conditions. Hormones and Behavior, 51(5), 597–604.

    Article  PubMed  Google Scholar 

  • Kao, H. T., Buka, S. L., Kelsey, K. T., Gruber, D. F., Porton, B., Kao, H. T., et al. (2010). The correlation between rates of cancer and autism: An exploratory ecological investigation. PLoS ONE, 5(2), e9372.

    Article  PubMed  Google Scholar 

  • Kim, Y. S., Leventhal, B. L., Koh, Y. J., Fombonne, E., Laska, E., Lim, E. C., et al. (2011). Prevalence of autism spectrum disorders in a total population sample. American Journal of Psychiatry, 168, 904–912.

    Article  PubMed  Google Scholar 

  • Knickmeyer, R. C., & Baron-Cohen, S. (2006). Topical review: Fetal testosterone and sex differences in typical social development and in autism. Journal of Child Neurology, 21(10), 825.

    Article  PubMed  Google Scholar 

  • Knickmeyer, R., Baron-Cohen, S., Raggatt, P., Taylor, K., & Hackett, G. (2006a). Fetal testosterone and empathy. Hormones and Behavior, 49(3), 282–292.

    Article  PubMed  Google Scholar 

  • 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.

    Article  PubMed  Google Scholar 

  • Knickmeyer, R. C., Wheelwright, S., Hoekstra, R., & Baron-Cohen, S. (2006b). Age of menarche in females with autism spectrum conditions. Developmental Medicine and Child Neurology, 48(12), 1007–1008.

    Article  PubMed  Google Scholar 

  • Kopp, S., Berg Kelly, K., & Gillberg, C. (2010). Girls with social and/or attention deficits: A descriptive study of 100 clinic attenders. Journal of Attention Disorders, 14(2), 167–181.

    Article  PubMed  Google Scholar 

  • Kopp, S., & Gillberg, C. (1992). Girls with social deficits and learning problems: Autism, atypical Asperger syndrome or a variant of these conditions. European Child and Adolescent Psychiatry, 1(2), 89–99.

    Article  Google Scholar 

  • 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.

    Article  PubMed  Google Scholar 

  • Koyama, T., Kamio, Y., Inada, N., & Kurita, H. (2009). Sex differences in WISC-III profiles of children with high-functioning pervasive developmental disorders. Journal of Autism and Developmental Disorders, 39(1), 135–141.

    Article  PubMed  Google Scholar 

  • Kozlowski, A. M., Matson, J. L., & Rieske, R. D. (2012). Gender effects on challenging behaviors in children with autism spectrum disorders. Research in Autism Spectrum Disorders, 6, 958–964.

    Article  Google Scholar 

  • Kraemer, B., Delsignore, A., Gundelfinger, R., Schnyder, U., & Hepp, U. (2005). Comorbidity of Asperger syndrome and gender identity disorder. European Child and Adolescent Psychiatry, 14(5), 292–296.

    Article  PubMed  Google Scholar 

  • Kyrkou, M. (2005). Health issues and quality of life in women with intellectual disability. Journal of Intellectual Disability Research, 49(10), 770–772.

    Article  PubMed  Google Scholar 

  • Lai, M. C., Lombardo, M. V., Pasco, G., Ruigrok, A. N. V., Wheelwright, S. J., Sadek, S. A., et al. (2011). A behavioral comparison of male and female adults with high functioning autism spectrum conditions. PLoS ONE, 6(6), e20835.

    Article  PubMed  Google Scholar 

  • 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.

    Article  PubMed  Google Scholar 

  • Landen, M., & Rasmussen, P. (1997). Gender identity disorder in a girl with autism—A case report. European Child and Adolescent Psychiatry, 6(3), 170–173.

    Article  PubMed  Google Scholar 

  • Landén, M., Wålinder, J., & Lundström, B. (1996). Prevalence, incidence and sex ratio of transsexualism. Acta Psychiatrica Scandinavica, 93(4), 221–223.

    Article  PubMed  Google Scholar 

  • Lee, N. R., Wallace, G. L., Adeyemi, E. I., Lopez, K. C., Blumenthal, J. D., Clasen, L. S., et al. (2012). Dosage effects of X and Y chromosomes on language and social functioning in children with supernumerary sex chromosome aneuploidies: Implications for idiopathic language impairment and autism spectrum disorders. Journal of Child Psychology and Psychiatry, 53(10), 1072–1081.

    Article  PubMed  Google Scholar 

  • Lemon, J. M., Gargaro, B., Enticott, P. G., & Rinehart, N. J. (2011). Brief Report: Executive functioning in autism spectrum disorders: A gender comparison of response inhibition. Journal of Autism and Developmental Disorders, 41(3), 352–356.

    Article  PubMed  Google Scholar 

  • Levy, D., Ronemus, M., Yamrom, B., Lee, Y., Leotta, A., Kendall, J., et al. (2011). Rare de novo and transmitted copy-number variation in autistic spectrum disorders. Neuron, 70(5), 886–897.

    Article  PubMed  Google Scholar 

  • Lichtenstein, P., Carlström, E., Råstam, M., Gillberg, C., & Anckarsäter, H. (2010). The genetics of autism spectrum disorders and related neuropsychiatric disorders in childhood. American Journal of Psychiatry, 167(11), 1357–1363.

    Article  PubMed  Google Scholar 

  • Loat, C., Haworth, C., Plomin, R., & Craig, I. (2008). A model incorporating potential skewed X inactivation in MZ girls suggests that X linked QTLs exist for several social behaviors including autism spectrum disorder. Annals of Human Genetics, 72(6), 742–751.

    Article  PubMed  Google Scholar 

  • Lord, C., & Schopler, E. (1985). Brief report: Differences in sex ratios in autism as a function of measured intelligence. Journal of Autism and Developmental Disorders, 15(2), 185–193.

    Article  PubMed  Google Scholar 

  • Lord, C., Schopler, E., & Revicki, D. (1982). Sex differences in autism. Journal of Autism and Developmental Disorders, 12(4), 317–330.

    Article  PubMed  Google Scholar 

  • Lugnegard, T., Hallerback, M. U., & Gillberg, C. (2011). Psychiatric comorbidity in young adults with a clinical diagnosis of Asperger syndrome. Research in Developmental Disabilities, 32(5), 1910–1917.

    Article  PubMed  Google Scholar 

  • Lutchmaya, S., Baron-Cohen, S., Raggatt, P., Knickmeyer, R., & Manning, J. T. (2004). 2nd to 4th Digit ratios, fetal testosterone and estradiol. Early Human Development, 77(1–2), 23–28.

    Article  PubMed  Google Scholar 

  • 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, 1304–1313.

    Article  PubMed  Google Scholar 

  • Manning, J. T., Baron-Cohen, S., Wheelwright, S., & Sanders, G. (2001). The 2nd to 4th digit ratio and autism. Developmental Medicine and Child Neurology, 43(3), 160–164.

    PubMed  Google Scholar 

  • Manning, J. T., Scutt, D., Wilson, J., & Lewis-Jones, D. I. (1998). The ratio of 2nd to 4th digit length: a predictor of sperm numbers and concentrations of testosterone, luteinizing hormone and oestrogen. Human Reproduction, 13(11), 3000–3004.

    Article  PubMed  Google Scholar 

  • Marco, E. J., & Skuse, D. H. (2006). Autism-lessons from the X chromosome. Social Cognitive and Affective Neuroscience, 1(3), 183–193.

    Article  PubMed  Google Scholar 

  • Matson, J. L., & Nebel-Schwalm, M. S. (2007). Comorbid psychopathology with autism spectrum disorder in children: An overview. Research in Developmental Disabilities, 28(4), 341–352.

    Article  PubMed  Google Scholar 

  • Matson, J. L., & Shoemaker, M. (2009). Intellectual disability and its relationship to autism spectrum disorders. Research in Developmental Disabilities, 30(6), 1107–1114.

    Article  PubMed  Google Scholar 

  • Matsuo, M., Muroya, K., Kosaki, K., Ishii, T., Fukushima, Y., Anzo, M., et al. (1999). Random X inactivation in a girl with duplication Xp11. 21–p21. 3: Report of a patient and review of the literature. American Journal of Medical Genetics, 86(1), 44–50.

    Article  PubMed  Google Scholar 

  • Mattila, M. L., Kielinen, M., Linna, S. L., Jussila, K., Ebeling, H., Bloigu, R., et al. (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 & Adolescent Psychiatry, 50(6), 583–592. e511.

    Google Scholar 

  • Mayes, S. D., & Calhoun, S. L. (2011). Impact of IQ, age, SES, gender, and race on autistic symptoms. Research in Autism Spectrum Disorders, 5(2), 749–757.

    Article  Google Scholar 

  • McLennan, J. D., Lord, C., & Schopler, E. (1993). Sex differences in higher functioning people with autism. Journal of Autism and Developmental Disorders, 23(2), 217–227.

    Article  PubMed  Google Scholar 

  • Milne, E., White, S., Campbell, R., Swettenham, J., Hansen, P., & Ramus, F. (2006). Motion and form coherence detection in autistic spectrum disorder: Relationship to motor control and 2:4 digit ratio. Journal of Autism and Developmental Disorders, 36(2), 225–237.

    Article  PubMed  Google Scholar 

  • Mouridsen, S. E., Rich, B., & Isager, T. (2010). Sibling sex ratio of individuals diagnosed with autism spectrum disorder as children. Developmental Medicine and Child Neurology, 52(3), 289–292.

    Article  PubMed  Google Scholar 

  • Mukaddes, N. M. (2002). Gender identity problems in autistic children. Child: Care, Health & Development, 28(6), 529–532.

    Google Scholar 

  • Murphy, O., Healy, O., & Leader, G. (2009). Risk factors for challenging behaviors among 157 children with autism spectrum disorder in Ireland. Research in Autism Spectrum Disorders, 3(2), 474–482.

    Article  Google Scholar 

  • Nagarajan, R. P., Patzel, K. A., Martin, M., Yasui, D. H., Swanberg, S. E., Hertz-Picciotto, I., et al. (2008). MECP2 promoter methylation and X chromosome inactivation in autism. Autism Research: Official Journal of the International Society for Autism Research, 1(3), 169–178.

    Article  Google Scholar 

  • Nicholas, J. S., Charles, J. M., Carpenter, L. A., King, L. B., Jenner, W., & Spratt, E. G. (2008). Prevalence and characteristics of children with autism-spectrum disorders. Annals of Epidemiology, 18(2), 130–136.

    Article  PubMed  Google Scholar 

  • Nordahl, C. W., Lange, N., Li, D. D., Barnett, L. A., Lee, A., Buonocore, M. H., et al. (2011). Brain enlargement is associated with regression in preschool-age boys with autism spectrum disorders. Proceedings of the National Academy of Sciences, 108(50), 20195–20200.

    Article  Google Scholar 

  • Nydén, A., Hjelmquist, E., & Gillberg, C. (2000). Autism spectrum and attention–deficit disorders in girls. Some neuropsychological aspects. European Child and Adolescent Psychiatry, 9(3), 180–185.

    Article  PubMed  Google Scholar 

  • Odent, M. (2010). Autism and anorexia nervosa: Two facets of the same disease? Medical Hypotheses, 75(1), 79–81.

    Article  PubMed  Google Scholar 

  • Park, S., Cho, S. C., Cho, I. H., Kim, B. N., Kim, J. W., Shin, M. S., et al. (2012). Sex differences in children with autism spectrum disorders compared with their unaffected siblings and typically developing children. Research in Autism Spectrum Disorders, 6(2), 861–870.

    Article  Google Scholar 

  • Pickles, A., Starr, E., Kazak, S., Bolton, P., Papanikolaou, K., Bailey, A., et al. (2000). Variable expression of the autism broader phenotype: Findings from extended pedigrees. Journal of Child Psychology and Psychiatry, 41(4), 491–502.

    Article  PubMed  Google Scholar 

  • 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.

    Article  PubMed  Google Scholar 

  • Posserud, M. B., Lundervold, A. J., Steijnen, M. C., Verhoeven, S., Stormark, K. M., & Gillberg, C. (2008). Factor analysis of the autism spectrum screening questionnaire. Autism, 12(1), 99–112.

    Article  PubMed  Google Scholar 

  • Qiao, Y., Liu, X., Harvard, C., Hildebrand, M., Rajcan Separovic, E., Holden, J., et al. (2008). Autism associated familial microdeletion of Xp11. 22. Clinical genetics, 74(2), 134–144.

  • Ramocki, M. B., Peters, S. U., Tavyev, Y. J., Zhang, F., Carvalho, C., Schaaf, C. P., et al. (2009). Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome. Annals of neurology, 66(6), 771–782.

    Article  PubMed  Google Scholar 

  • Råstam, M. (2008). Eating disturbances in autism spectrum disorders with focus on adolescent and adult years. Clinical Neuropsychiatry, 5, 31–42.

    Google Scholar 

  • 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.

    Article  PubMed  Google Scholar 

  • Reiss, A. L., Abrams, M. T., Singer, H. S., Ross, J. L., & Denckla, M. B. (1996). Brain development, gender and IQ in children. A volumetric imaging study. Brain, 119(5), 1763–1774.

    Article  PubMed  Google Scholar 

  • Robinson, E. B., Lichtenstein, P., Anckarsäter, H., Happé, F., & Ronald, A. (in press). Examining and interpreting the female protective effect against autistic behavior. Proceedings of the National Academy of Sciences.

  • 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, 156(3), 255–274.

    Article  Google Scholar 

  • Ross, J. L., Roeltgen, D. P., Kushner, H., Zinn, A. R., Reiss, A., Bardsley, M. Z., et al. (2012). Behavioral and Social Phenotypes in Boys With 47, XYY Syndrome or 47, XXY Klinefelter syndrome. Pediatrics, 129(4), 769–778.

    Article  PubMed  Google Scholar 

  • Russell, G., Steer, C., & Golding, J. (2011). Social and demographic factors that influence the diagnosis of autistic spectrum disorders. Social Psychiatry and Psychiatric Epidemiology, 46(12), 1283–1293.

    Article  PubMed  Google Scholar 

  • Ruta, L., Ingudomnukul, E., Taylor, K., Chakrabarti, B., & Baron-Cohen, S. (2011). Increased serum androstenedione in adults with autism spectrum conditions. Psychoneuroendocrinology, 36, 1154–1163.

    Article  PubMed  Google Scholar 

  • Sanders, S. J., Hus, V., Luo, R., Murtha, M. T., Moreno-De-Luca, D., Chu, S. H., et al. (2011). Multiple recurrent de novo CNVs, including duplications of the 7q11. 23 Williams syndrome region, are strongly associated with autism. Neuron, 70(5), 863–885.

    Article  PubMed  Google Scholar 

  • Schumann, C. M., Barnes, C. C., Lord, C., Courchesne, E., Schumann, C. M., Barnes, C. C., et al. (2009). Amygdala enlargement in toddlers with autism related to severity of social and communication impairments. Biological Psychiatry, 66(10), 942–949.

    Article  PubMed  Google Scholar 

  • Schumann, C. M., Bloss, C. S., Carter Barnes, C., Wideman, G. M., Carper, R. A., Akshoomoff, N., et al. (2010). Longitudinal magnetic resonance imaging study of cortical development through early childhood in autism. The Journal of Neuroscience, 30(12), 4419–4427.

    Article  PubMed  Google Scholar 

  • Schwarz, E., Guest, P. C., Rahmoune, H., Wang, L., Levin, Y., Ingudomnukul, E., et al. (2011). Sex-specific serum biomarker patterns in adults with Asperger’s syndrome. Molecular Psychiatry, 16, 1213–1220.

    Article  PubMed  Google Scholar 

  • Schwichtenberg, A. J., Young, G. S., Sigman, M., Hutman, T., & Ozonoff, S. (2010). Can family affectedness inform infant sibling outcomes of autism spectrum disorders? Journal of Child Psychology and Psychiatry and Allied Disciplines, 51(9), 1021–1030.

    Article  Google Scholar 

  • Sebat, J., Lakshmi, B., Malhotra, D., Troge, J., Lese-Martin, C., Walsh, T., et al. (2007). Strong association of de novo copy number mutations with autism. Science, 316(5823), 445–449.

    Article  PubMed  Google Scholar 

  • Shinawi, M., Patel, A., Panichkul, P., Zascavage, R., Peters, S. U., & Scaglia, F. (2009). The Xp contiguous deletion syndrome and autism. American Journal of Medical Genetics Part A, 149(6), 1138–1148.

    Article  Google Scholar 

  • Simonoff, E., Pickles, A., Charman, T., Chandler, S., Loucas, T., & Baird, G. (2008). Psychiatric disorders in children with autism spectrum disorders: prevalence, comorbidity, and associated factors in a population-derived sample. Journal of the American Academy of Child and Adolescent Psychiatry, 47(8), 921–929.

    Article  PubMed  Google Scholar 

  • 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.

    Article  Google Scholar 

  • Skuse, D. H. (2000). Imprinting, the X-chromosome, and the male brain: Explaining sex differences in the liability to autism. Pediatric Research, 47(1), 9–16.

    Article  PubMed  Google Scholar 

  • Skuse, D., James, R., Bishop, D., Coppin, B., Dalton, P., Aamodt-Leeper, G., et al. (1997). Evidence from Turner’s syndrome of an imprinted X-linked locus affecting cognitive function. Nature Reviews Genetics, 387, 705–708.

    Google Scholar 

  • 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, 48–59.

    Article  PubMed  Google Scholar 

  • Southgate, L., Tchanturia, K., & Treasure, J. (2008). Information processing bias in anorexia nervosa. Psychiatry Research, 160(2), 221–227.

    Article  PubMed  Google Scholar 

  • Sparks, B., Friedman, S., Shaw, D., Aylward, E., Echelard, D., Artru, A., et al. (2002). Brain structural abnormalities in young children with autism spectrum disorder. Neurology, 59(2), 184–192.

    Article  PubMed  Google Scholar 

  • Stiver, R. L., & Dobbins, J. P. (1980). Treatment of atypical anorexia nervosa in the public school: An autistic girl. Journal of Autism and Developmental Disorders, 10(1), 67–73.

    Article  PubMed  Google Scholar 

  • Szatmari, P., Georgiades, S., Bryson, S., Zwaigenbaum, L., Roberts, W., Mahoney, W., et al. (2006). Investigating the structure of the restricted, repetitive behaviours and interests domain of autism. Journal of Child Psychology and Psychiatry, 47(6), 582–590.

    Article  PubMed  Google Scholar 

  • Szatmari, P., Liu, X. Q., Goldberg, J., Zwaigenbaum, L., Paterson, A. D., Woodbury-Smith, M., et al. (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.

    Article  PubMed  Google Scholar 

  • Szatmari, P., MacLean, J. E., Jones, M. B., Bryson, S. E., Zwaigenbaum, L., Bartolucci, G., et al. (2000). The familial aggregation of the lesser variant in biological and nonbiological relatives of PDD probands: A family history study. Journal of Child Psychology and Psychiatry, 41(5), 579–586.

    Google Scholar 

  • Talebizadeh, Z., Bittel, D. C., Veatch, O. J., Kibiryeva, N., & Butler, M. G. (2005). Brief report: Non-random X chromosome inactivation in females with autism. Journal of Autism and Developmental Disorders, 35(5), 675–681.

    Article  PubMed  Google Scholar 

  • 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, 147(6), 844–849.

    Article  Google Scholar 

  • Tepest, R., Jacobi, E., Gawronski, A., Krug, B., Moller-Hartmann, W., Lehnhardt, F. G., et al. (2010). Corpus callosum size in adults with high-functioning autism and the relevance of gender. Psychiatry Research, 183(1), 38–43.

    Article  PubMed  Google Scholar 

  • 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.

    Article  PubMed  Google Scholar 

  • Tsai, L., & Beisler, J. (1983). The development of sex differences in infantile autism. The British Journal of Psychiatry, 142(4), 373.

    Article  PubMed  Google Scholar 

  • 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.

    Article  PubMed  Google Scholar 

  • Tsakanikos, E., Underwood, L., Kravariti, E., Bouras, N., & McCarthy, J. (2011). Gender differences in comorbid psychopathology and clinical management in adults with autism spectrum disorders. Research in Autism Spectrum Disorders, 5(2), 803–808.

    Article  Google Scholar 

  • Turk, J., Bax, M., Williams, C., Amin, P., Eriksson, M., & Gillberg, C. (2009). Autism spectrum disorder in children with and without epilepsy: Impact on social functioning and communication. Acta Paediatrica, 98(4), 675–681.

    Article  PubMed  Google Scholar 

  • van Rijn, S., Swaab, H., Aleman, A., & Kahn, R. S. (2008). Social behavior and autism traits in a sex chromosomal disorder: Klinefelter (47XXY) syndrome. Journal of Autism and Developmental Disorders, 38(9), 1634–1641.

    Article  PubMed  Google Scholar 

  • Vazna, A., Musova, Z., Vlckova, M., Novotna, D., Dvorakova, L., Hrdlicka, M., et al. (2010). FMR1 gene expansion, large deletion of Xp, and skewed X inactivation in a girl with mental retardation and autism. American Journal of Medical Genetics Part A, 152(5), 1273–1277.

    Article  Google Scholar 

  • 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.

    Article  PubMed  Google Scholar 

  • Wentz, E., Lacey, J. H., Waller, G., Rastam, M., Turk, J., & Gillberg, C. (2005). Childhood onset neuropsychiatric disorders in adult eating disorder patients. A pilot study. European Child and Adolescent Psychiatry, 14(8), 431–437.

    Article  PubMed  Google Scholar 

  • Whitehouse, A. J. O., Hickey, M., Stanley, F. J., Newnham, J. P., & Pennell, C. E. (2011). Brief report: a preliminary study of fetal head circumference growth in autism spectrum disorder. Journal of Autism and Developmental Disorders, 41(1), 122–129.

    Article  PubMed  Google Scholar 

  • Wilke, M., Krageloh-Mann, I., & Holland, S. K. (2007). Global and local development of gray and white matter volume in normal children and adolescents. Experimental Brain Research, 178(3), 296–307.

    Article  Google Scholar 

  • Wilkinson, K. M. (1998). Profiles of language and communication skills in autism. Mental Retardation and Developmental Disabilities Research Reviews, 4(2), 73–79.

    Article  Google Scholar 

  • Williams, P. G., Allard, A. M., & Sears, L. (1996). Case study: Cross-gender preoccupations with two male children with autism. Journal of Autism and Developmental Disorders, 26(6), 635–642.

    Article  PubMed  Google Scholar 

  • Williams, J. G., Allison, C., Scott, F. J., Bolton, P. F., Baron-Cohen, S., Matthews, F. E., et al. (2008). The childhood autism spectrum test (CAST): Sex differences. Journal of Autism and Developmental Disorders, 38(9), 1731–1739.

    Article  PubMed  Google Scholar 

  • Wing, L. (1981). Sex ratios in early childhood autism and related conditions. Psychiatry Research, 5(2), 129–137.

    Article  PubMed  Google Scholar 

  • 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.

    Article  Google Scholar 

  • Young, D. J., Bebbington, A., Anderson, A., Ravine, D., Ellaway, C., Kulkarni, A., et al. (2008). The diagnosis of autism in a female: Could it be Rett syndrome? European Journal of Pediatrics, 167(6), 661–669.

    Article  PubMed  Google Scholar 

  • Zhao, X., Leotta, A., Kustanovich, V., Lajonchere, C., Geschwind, D. H., Law, K., et al. (2007). A unified genetic theory for sporadic and inherited autism. Proceedings of the National Academy of Sciences, 104(31), 12831–12836.

    Article  Google Scholar 

  • Zucker, K. J., & Lawrence, A. A. (2009). Epidemiology of gender identity disorder: Recommendations for the standards of care of The World Professional Association for Transgender Health. International Journal of Transgenderism, 11(1), 8–18.

    Article  Google Scholar 

  • Zucker, N. L., Losh, M., Bulik, C. M., LaBar, K. S., Piven, J., & Pelphrey, K. A. (2007). Anorexia nervosa and autism spectrum disorders: Guided investigation of social cognitive endophenotypes. Psychological Bulletin, 133(6), 976–1006.

    Article  PubMed  Google Scholar 

Download references

Acknowledgments

Paul B. Fitzgerald has received equipment for research from Medtronic Ltd, MagVenture A/S and Brainsway Ltd. He has undertaken research with funding and equipment from Cervel Neurotech. He is supported by a NHMRC Practitioner Fellowship. Peter G. Enticott is supported by a NHMRC Clinical Research Fellowship.

Author information

Authors and Affiliations

  1. Monash Alfred Psychiatry Research Centre, The Alfred and Central Clinical School, Monash University, Level 4, 607 St Kilda Rd, Melbourne, VIC, 3004, Australia

    Melissa Kirkovski, Peter G. Enticott & Paul B. Fitzgerald

Authors
  1. Melissa Kirkovski
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Peter G. Enticott
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Paul B. Fitzgerald
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Melissa Kirkovski.

Electronic supplementary material

Below is the link to the electronic supplementary material.

Supplementary material 1 (PDF 314 kb)

Rights and permissions

Reprints and permissions

About this article

Cite this article

Kirkovski, M., Enticott, P.G. & Fitzgerald, P.B. A Review of the Role of Female Gender in Autism Spectrum Disorders. J Autism Dev Disord 43, 2584–2603 (2013). https://doi.org/10.1007/s10803-013-1811-1

Download citation

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10803-013-1811-1

Keywords

Search

Navigation