Journal of Autism and Developmental Disorders

, Volume 45, Issue 6, pp 1742–1750 | Cite as

Autism Spectrum Disorder Risk Factors and Autistic Traits in Gender Dysphoric Children

  • Doug P. VanderLaanEmail author
  • Jonathan H. Leef
  • Hayley Wood
  • S. Kathleen Hughes
  • Kenneth J. Zucker
Original Paper


Gender dysphoria (GD) and autism spectrum disorder (ASD) are associated. In 49 GD children (40 natal males), we examined ASD risk factors (i.e., birth weight, parental age, sibling sex ratio) in relation to autistic traits. Data were gathered on autistic traits, birth weight, parents’ ages at birth, sibling sex ratio, gender nonconformity, age, maternal depression, general behavioral and emotional problems, and IQ. High birth weight was associated with both high gender nonconformity and autistic traits among GD children. Developmental processes associated with high birth weight are, therefore, likely to underlie the GD–ASD link either directly or indirectly. The present study is the first to provide quantitative data bearing on possible mechanisms that lead GD and ASD to co-occur.


Gender dysphoria Autism spectrum disorder Birth weight Parental age Sibling sex ratio 



D.P.V. was supported by a Canadian Institutes of Health Research Postdoctoral Fellowship. We thank two anonymous reviewers for comments on an earlier version of this article.


  1. Abel, K. M., Dalman, C., Svensson, A. C., Susser, E., Dal, H., Idring, S., et al. (2013). Deviance in fetal growth and risk of autism spectrum disorder. American Journal of Psychiatry, 170, 391–398. doi: 10.1176/appi.ajp.2012.12040543.CrossRefPubMedGoogle Scholar
  2. Achenbach, T. M. (1991). Manual for the child behavior checklist/4-18 and 1991 profile. Burlington, VT: University of Vermont Department of Psychiatry.Google Scholar
  3. Alanko, K., Santtila, P., Harlaar, N., Witting, K., Varjoen, M., Jern, P., et al. (2010). Common genetic effects of gender atypical behavior in childhood and sexual orientation in adulthood: A study of Finnish twins. Archives of Sexual Behavior, 39, 81–92. doi: 10.1007/s10508-008-9457-3.CrossRefPubMedGoogle Scholar
  4. Alley, C. S., Gillberg, C., & Wilson, P. (2014). Neurobiological abnormalities in the first few years of life in individuals later diagnosed with autism spectrum disorder: A review of recent data. Behavioural Neurology. doi: 10.1155/2014/210780.
  5. American Psychiatric Association. (2013). Diagnostic and statistical manual of mental disorders (5th ed.). Arlington, VA: Author.CrossRefGoogle Scholar
  6. Avidime, O. M., Avidime, S., Olorunshola, K. V., & Dikko, A. A. U. (2011). Anogenital distance and umbilical cord testosterone level in newborns in Zaria, Northern Nigeria. Nigerian Journal of Physiological Sciences, 26, 23–28.PubMedGoogle Scholar
  7. Bennett, T., Boyle, M., Georgiades, K., Georgiades, S., Thompson, A., Duku, E., et al. (2012). Influence of reporting effects on the association between maternal depression and child autism spectrum disorder behaviors. Journal of Child Psychology and Psychiatry, 53, 89–96. doi: 10.1111/j.1469-7610.2011.02451.x.CrossRefPubMedGoogle Scholar
  8. Blanchard, R., Zucker, K. J., Bradley, S. J., & Hume, C. S. (1995). Birth order and sibling sex ratio in homosexual male adolescents and probably prehomosexual feminine boys. Developmental Psychology, 31, 22–30. doi: 10.1037/0012-1649.31.1.22.CrossRefGoogle Scholar
  9. Blanchard, R., Zucker, K. J., Cavacas, A., Allin, S., Bradley, S. J., & Schachter, D. C. (2002). Fraternal birth order and birth weight in probably prehomosexual feminine boys. Hormones and Behavior, 41, 321–327. doi: 10.1006/hbeh.2002.1765.CrossRefPubMedGoogle Scholar
  10. Blumberg, S. J., Bramlet, 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: 2007–2012. National Health Statistics Reports, 65, 1–11.PubMedGoogle Scholar
  11. Carlsen, S. M., Jacobsen, G., & Romundstad, P. (2006). Maternal testosterone levels during pregnancy are associated with offspring size at birth. European Journal of Endocrinology, 155, 365–370. doi: 10.1530/eje.1.02200.CrossRefPubMedGoogle Scholar
  12. Chasson, G. S., Timpano, K. R., Greenberg, J. L., Shaw, A., Singer, T., & Wilhelm, S. (2011). Shared social competence impairment: Another link between the obsessive-compulsive and autism spectrums? Clinical Psychology Review, 31, 653–662. doi: 10.1016/j.cpr.2011.02.006.CrossRefPubMedGoogle Scholar
  13. Constantino, J. N., & Gruber, C. P. (2005). Social responsiveness scale. Los Angeles: Western Psychological Services.Google Scholar
  14. Côté, K., Blanchard, R., & Lalumière, M. L. (2003). The influence of birth order on birth weight: Does the sex of preceding siblings matter? Journal of Biosocial Science, 35, 455–462. doi: 10.1017/S0021932003004553.CrossRefPubMedGoogle Scholar
  15. de Vries, A. L. C., Noens, I. L., Cohen-Kettenis, P. T., van Berckelaer-Onnes, I. A., & Doreleifers, T. A. (2010). Autism spectrum disorders in gender dysphoric children and adolescents. Journal of Autism and Developmental Disorders, 40, 930–936. doi: 10.1007/s10803-010-0935-9.CrossRefPubMedCentralPubMedGoogle Scholar
  16. Derogatis, L. R. (1994). Symptom checklist-90-R. Minneapolis: National Computer Systems Inc.Google Scholar
  17. Dodds, L., Fell, D. B., Shea, S., Armson, B. A., Allen, A. C., & Bryson, S. (2011). The role of prenatal, obstetric and neonatal factors in the development of autism. Journal of Autism and Developmental Disorders, 41, 891–902. doi: 10.1007/s10803-010-1114-8.CrossRefPubMedGoogle Scholar
  18. Fombonne, E. (2005). Epidemiology of autistic disorder and other pervasive developmental disorders. Journal of Clinical Psychiatry, 66(Supplement 10), 3–8.PubMedGoogle Scholar
  19. Fukumoto, A., Hashimoto, T., Mori, K., Tsuda, Y., Arisawa, K., & Kagami, S. (2011). Head circumference and body growth in autism spectrum disorders. Brain and Development, 33, 569–575. doi: 10.1016/j.braindev.2010.09.004.CrossRefPubMedGoogle Scholar
  20. Gayle, H. D., Yip, R., Frank, M. J., Nieburg, P., & Binkin, N. J. (1988). Validation of maternally reported birth weights among 46,637 Tennessee WIC program participants. Public Health Reports, 103, 143–147.PubMedCentralPubMedGoogle Scholar
  21. Gofin, R., Neumark, Y. D., & Adler, B. (2000). Birthweight recall by mothers of Israeli children. Public Health, 114, 161–163. doi: 10.1038/ Scholar
  22. Gómez-Gil, E., Esteva, I., Almaraz, M. C., Pasaro, E., Segovia, S., & Guillamon, A. (2010). Familiality of gender identity disorder in non-twin siblings. Archives of Sexual Behavior, 39, 546–552. doi: 10.1007/s10508-009-9524-4.CrossRefPubMedGoogle Scholar
  23. Haugen, M., Brantsæter, A. L., Winkvist, A., Lissner, L., Alexander, J., Oftedal, B., et al. (2014). Associations of pre-pregnancy body mass index and gestational weight gain with pregnancy outcome and postpartum weight retention: A prospective observational cohort study. BMC Pregnancy and Childbirth, 14, 201. doi: 10.1186/1471-2393-14-201.CrossRefPubMedCentralPubMedGoogle Scholar
  24. Heylens, G., De Cuypere, G., Zucker, K. J., Schelfaut, C., Elaut, E., Vanden Bossche, H., et al. (2012). Gender identity disorder in twins: A review of the case report literature. Journal of Sexual Medicine, 9, 751–757. doi: 10.1111/j.1743-6109.2011.02567.x.CrossRefPubMedGoogle Scholar
  25. Johnson, L. L., Bradley, S. J., Birkenfeld-Adams, A. S., Kuksis, M. A. R., Maing, D. M., Mitchell, J. N., et al. (2004). A parent-report Gender Identity Questionnaire for Children. Archives of Sexual Behavior, 33, 105–116. doi: 10.1023/B:ASEB.0000014325.68094.f3.CrossRefPubMedGoogle Scholar
  26. Jones, R. M., Wheelright, S., Farrell, K., Martin, E., Green, R., Di Ceglie, D., et al. (2012). Brief report: Female-to-male transsexual people and autistic traits. Journal of Autism and Developmental Disorders, 42, 301–306. doi: 10.1007/s10803-011-1227-8.CrossRefPubMedGoogle Scholar
  27. Kirchengast, S., & Hartmann, B. (2013). Maternal obesity affects newborn somatometrices and vital parameters in a gender typical manner—Evidence for the male disadvantage hypothesis? Collegium Antropologicum, 4, 1057–1063.Google Scholar
  28. Knickmeyer, R., Baron-Cohen, S., Fane, B. A., Wheelwright, S., Mathews, G. A., Conway, G. S., et al. (2006). Androgens and autistic traits: A study of individuals with congenital adrenal hyperplasia. Hormones and Behavior, 50, 148–153. doi: 10.1016/j.yhbeh.2006.02.006.CrossRefPubMedGoogle Scholar
  29. Knickmeyer, R. C., Wheelright, 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, 1028–1035. doi: 10.1007/s10803-007-0475-0.CrossRefPubMedGoogle Scholar
  30. Kondrashov, A. (2012). The rate of mutation. Nature, 488, 467–468. doi: 10.1038/488467a.CrossRefPubMedGoogle Scholar
  31. Lamminmäki, A., Hines, M., Kuiri-Hänninen, T., Kilpeläinen, L., Dunkel, L., & Sankilampi, U. (2012). Testosterone measured in infancy predicts subsequent sex-typed behavior in boys and in girls. Hormones and Behavior, 61, 611–616. doi: 10.1016/j.yhbeh.2012.02.013.CrossRefPubMedGoogle Scholar
  32. Landén, M., & Rasmussen, P. (1997). Gender identity disorder in a girl with autism–A case report. European Child and Adolescent Psychiatry, 6, 170–173. doi: 10.1007/BF00538990.CrossRefPubMedGoogle Scholar
  33. Lundström, S., Haworth, C. M. A., Carlström, E., Gillberg, C., Mill, J., Rastam, M., et al. (2010). Trajectories leading to autism spectrum disorders are affected by paternal age: Findings from two nationally representative twin studies. Journal of Child Psychology and Psychiatry, 51, 580–586. doi: 10.1111/j.1469-7610.2010.02223.x.CrossRefGoogle Scholar
  34. 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, 289–292. doi: 10.1111/j.1469-8749.2009.03368.x.CrossRefPubMedGoogle Scholar
  35. O’Sullivan, J. J., Pearce, M. S., & Parker, L. (2000). Parental recall of birth weight: How accurate is it? Archives of Disease in Childhood, 82, 202–203. doi: 10.1136/adc.82.3.202.CrossRefPubMedCentralPubMedGoogle Scholar
  36. Parkinson, J. (2014). Gender dysphoria in Asperger’s syndrome: A caution. Australasian Psychiatry, 22, 84–85. doi: 10.1177/1039856213497814.CrossRefPubMedGoogle Scholar
  37. Parner, E. T., Baron-Cohen, S., Lauritsen, M. B., Jørgensen, M., Schieve, L. A., Yeargin-Allsopp, M., et al. (2012). Parental age and autism spectrum disorders. Annals of Epidemiology, 22, 143–150. doi: 10.1016/j.annepidem.2011.12.006.CrossRefPubMedGoogle Scholar
  38. Pasterski, V., Gilligan, L., & Curtis, R. (2014). Traits of autism spectrum disorders in adults with gender dysphoria. Archives of Sexual Behavior, 43, 387–393. doi: 10.1007/s10508-013-0154-5.CrossRefPubMedGoogle Scholar
  39. Robinow, O. (2009). Paraphilia and transgenderism: A connection with Asperger’s disorder? Sexual and Relationship Therapy, 24, 143–151. doi: 10.1080/14681990902951358.CrossRefGoogle Scholar
  40. Sandin, S., Hultman, C. M., Kolevzon, A., Gross, R., MacCabe, J. H., & Reichenberg, A. (2012). Advancing maternal age is associated with increasing risk for autism: A review and meta-analysis. Journal of the American Academy of Child and Adolescent Psychiatry, 51, 477–486. doi: 10.1016/j.jaac.2012.02.018.CrossRefPubMedGoogle Scholar
  41. Schagen, S. E. E., Delemarre-van de Waal, H. A., Blanchard, R., & Cohen-Kettenis, P. T. (2012). Sibling sex ratio and birth order in early-onset gender dysphoric adolescents. Archives of Sexual Behavior, 41, 541–549. doi: 10.1007/s10508-011-9777-6.CrossRefPubMedCentralPubMedGoogle Scholar
  42. Strang, J. F., Kenworthy, L., Dominska, A., Sokoloff, J., Kenealy, L. E., Berl, M., et al. (2014). Increased gender variance in autism spectrum disorders and attention deficit hyperactivity disorder. Archives of Sexual Behavior. doi: 10.1007/s10508-014-0285-3.PubMedGoogle Scholar
  43. Tomeo, C. A., Rich-Edwards, J. W., Michels, K. B., Berkey, C. S., Hunter, D. J., Frazier, A. L., et al. (1999). Reproducibility and validity of maternal recall of pregnancy-related events. Epidemiology, 10, 774–777.CrossRefPubMedGoogle Scholar
  44. Van Lieshout, R. J. (2013). Role of maternal adiposity prior to and during pregnancy and cognitive and psychiatric problems in offspring. Nutrition Reviews, 71, s95–s101. doi: 10.1111/nure.12059.CrossRefPubMedGoogle Scholar
  45. VanderLaan, D. P., Blanchard, R., Wood, H., & Zucker, K. J. (2014a). Birth order and sibling sex ratio of children and adolescents referred to a gender identity service. PLoS One, 9, e90257. doi: 10.1371/journal.pone.0090257.CrossRefPubMedCentralPubMedGoogle Scholar
  46. VanderLaan, D. P., Forrester, D. L., Petterson, L. J., & Vasey, P. L. (2013a). The prevalence of fa’afafine relatives among Samoan gynephilic men and fa’afafine. Archives of Sexual Behavior, 42, 353–359. doi: 10.1007/s10508-012-0015-7.CrossRefPubMedGoogle Scholar
  47. VanderLaan, D. P., Postema, L., Wood, H., Singh, D., Fantus, S., Hyun, J., et al. (2014b). Do children with gender dysphoria have intense/obsessional interests? Journal of Sex Research,. doi: 10.1080/00224499.2013.860073.Google Scholar
  48. VanderLaan, D. P., Vokey, J. R., & Vasey, P. L. (2013b). Is transgendered male androphilia familial in non-Western populations? The case of a Samoan village. Archives of Sexual Behavior, 42, 361–370. doi: 10.1007/s10508-012-0037-1.CrossRefPubMedGoogle Scholar
  49. VanderLaan, D. P., & Zucker, K. J. (in press). Gender dysphoria in children and adolescents. In M. H. Ebert, J. F. Leckman, & I. Petrakis (Eds.), Current diagnosis and treatment psychiatry 3rd edition. California: McGraw-Hill.Google Scholar
  50. Wallien, M. S. C., Quilty, L. C., Steensma, T. D., Singh, D., Lambert, S. L., Leroux, A., et al. (2009). Cross-national replication of the Gender Identity Interview for Children. Journal of Personality Assessment, 91, 545–552. doi: 10.1080/00223890903228463.CrossRefPubMedGoogle Scholar
  51. Wechsler, D. (2003). WISC-IV technical and interpretive manual. San Antonio, TX: Psychological Corporation.Google Scholar
  52. 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, 635–642. doi: 10.1007/BF02172352.CrossRefPubMedGoogle Scholar
  53. Zucker, K. J. (2008). Children with gender identity disorder: Is there a best practice? [Enfants avec troubles de l’identité sexuée: y-a-t-il une pratique la meilleure?]. Neuropsychiatrie de l’Enfance et de l’Adolescence, 56, 358–364. doi: 10.1016/j.neurenf.2008.06.003.CrossRefGoogle Scholar
  54. Zucker, K. J., Bradley, S. J., Kuksis, M., Pecore, K., Birkenfeld-Adams, A., Doering, R. W., et al. (1999). Gender constancy judgements in children with gender identity disorder: Evidence for a developmental lag. Archives of Sexual Behavior, 28, 475–502. doi: 10.1023/A:1018713115866.CrossRefPubMedGoogle Scholar
  55. Zucker, K. J., Green, R., Coates, S., Zuger, B., Cohen-Kettenis, P. T., Zecca, G. M., et al. (1997). Sibling sex ratio of boys with gender identity disorder. Journal of Child Psychology and Psychiatry, 38, 543–551. doi: 10.1111/j.1469-7610.1997.tb01541.x.CrossRefPubMedGoogle Scholar
  56. Zucker, K. J., & Lawrence, 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, 8–18. doi: 10.1080/15532730902799946.CrossRefGoogle Scholar
  57. Zucker, K. J., Wood, H., & VanderLaan, D. P. (2014). Models of psychopathology in children and adolescents with gender dysphoria. In B. P. C. Kreukels, T. D. Steensma, & A. L. C. de Vries (Eds.), Gender dysphoria and disorders of sex development: Progress in care and knowledge (pp. 171–192). New York: Springer.CrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media New York 2014

Authors and Affiliations

  • Doug P. VanderLaan
    • 1
    Email author
  • Jonathan H. Leef
    • 1
  • Hayley Wood
    • 1
  • S. Kathleen Hughes
    • 1
  • Kenneth J. Zucker
    • 1
    • 2
  1. 1.Gender Identity Service, Child, Youth, and Family Services, Beamish Family WingCentre for Addiction and Mental HealthTorontoCanada
  2. 2.Department of PsychiatryUniversity of TorontoTorontoCanada

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