Of the 19 studies, 12 were concerned with children and adolescents. A summary of all the studies is presented in Tables 1Tables 1 and 22. Abelson28x28Abelson, A.G. The development of gender identity in the autistic child. Child Care Health Dev. 1981;
7: 347
Crossref | PubMed | Scopus (16) | Google ScholarSee all References published the first study on the development of gender identity in children with autism. Gender identity was assessed through the Michigan Gender Identity Test (MGIT)38x38Paluszny, M., Beit-Hallahmi, B., Catford, J.C., Cooley, R., Dull, C., and Guiora, A.Z. Gender identity and its measurement in young children. Compr Psychiat. 1973;
14: 281
Abstract | Full Text PDF | PubMed | Scopus (16) | Google ScholarSee all References in 30 children who had a clinical diagnosis of autism. The MGIT asks children to sort out photos of boys and girls wearing gender-appropriate clothing into categories of boys and girls. The children also are asked to categorize themselves. The study found a significant positive correlation between increasing mental age and the ability to successfully perform the MGIT and, to a lesser degree, increasing chronologic age. A significant positive relation also was shown between the MGIT and the Gesell Question (“Are you a little boy or a little girl?”).39x39Gesell, A., Halverson, H.M., Thompson, H., Ilg, F.L., Costner, B.M., Ames, L.B. et al. The first five years of life: a guide to the study of the preschool child. Harper,
New York; 1940
Google ScholarSee all References Interestingly, three children were unable to answer the Gesell Question while correctly completing the MGIT. This indicates that they were able to identify gender in others, but not in themselves. Although the sample was small, it was the first study to highlight the relation between gender identity and ASD.
Table 1Study Characteristics in Children and Adolescents| Date | Author | Type of study | Patients, n | Recruitment | Diagnostic or screening tools | Results |
|---|
| 1981 | Abelson | Cohort | 30 | Patients with previously established ASD | MGIT, Alpern-Boll Developmental Profile, Gesell Question | Positive correlation between mental age and successful MGIT; positive correlation between MGIT and Gesell Question |
| 2010 | De Vries et al | Cohort | 231 | Children and adolescents referred to gender identity clinic service | Gender dysphoria: clinical assessment via DSM-IV-TR and ICD-10 diagnostic criteria; ASD: initial clinician screening for cases; DISCO-10 | Incidence of 7.8% of ASD in total study; incidence of 4.7% of ASD with gender dysphoria; incidence of 17% of ASD with gender dysphoria NOS |
| 2014 | Di Ceglie et al | Case–control | 347 | Parents of adolescents who were diagnosed with gender dysphoria or a control group without gender dysphoria | Gender dysphoria: clinical assessment via DSM-IV criteria; ASD: EQ and SQ | Mean EQ score of trans-boys and trans-girls was significantly lower than control girls but similar to control boys; mean score on the SQ did not differ between trans participants and controls |
| 2014 | Strang et al | Case note review | 554 | Children and adolescents diagnosed with ASD, ADHD, a neurodevelopment disorder, and controls (with none of the above disorders) and normative data from the CBCL | Gender dysphoria: CBCL; ASD: ADI/ADI-R, ADOS | Incidence of 5.4% of gender variance in ASD; incidence of 4.8% of gender variance in ADHD; incidence of 1.7% of gender variance in neurodevelopment group; incidence of 0.07% of gender variance in controls |
| 2014 | VanderLaan et al | Cohort | 49 | Children with gender dysphoria at gender identity clinic service | SRS, GIQC, Wechsler Intelligence Scale for Children, CBCL | High birth weight predicted increased ASD traits; increased gender nonconformity predicted increased ASD traits; high birth weight and increased gender nonconformity predicted increased ASD traits |
| 2015 | VanderLaan et al | Case–control | Gender referred (n = 534), siblings (n = 419), non-gender referred (n = 1,201) | Children referred to gender identity clinic service and their siblings, children referred for obsessional interests | CBCL: questions 9 and 66 (related to obsessionalism) | Significant increase in obsessionalism in boys and girls referred to gender identity clinic service compared with all other groups |
| 2015 | Skagerberg et al | Case–control | 166 parents | Parents of children presenting with gender dysphoria | SRS, case note review for previous diagnosis of ASD, clinical assessment of gender dysphoria | No significant difference in mean SRS scores between case and control; no significant difference in mean SRS subscale scores between case and control |
| 2015 | Kaltiala-Heino et al | Cohort | 47 | Children under care of a gender identity clinic service | Case note review for previous diagnosis of ASD, clinical assessment of gender dysphoria | 26% of those who had experienced gender dysphoria had previous diagnosis of ASD |
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Table 2Study Characteristics of Case Studies| Date | Author | Age (y) | Symptoms | Natal gender | Comorbidity | Impression |
|---|
| 1996 | Williams et al | 5 and 3 | Gender dysphoria and diagnosed ASD | Male | Younger child degree of developmental delay | Queried manifestation of ASD or gender dysphoria |
| 1997 | Landén and Rasmussen | 14 | Gender dysphoria symptoms from 8 y old and diagnosed ASD | Female | OCD | Transsexualism as result of ASD and/or OCD but possibly independent disorders; perhaps manage as transsexualism |
| 2002 | Mukaddes | 10 and 7 | Gender dysphoria symptoms and diagnosed ASD | Male | None stated | Persistent gender identity at 4-year follow-up |
| 2003 | Perera et al | 9 | Gender dysphoria symptoms and diagnosed ASD | Female | OCD | Continuation of OCD symptoms and lessening of gender dysphoria during follow-up |
| 2005 | Kraemer et al | 35 | Gender dysphoria symptoms with diagnosed ASD | Male | None stated | Gender dysphoria developed secondary to adopting male emotional and cognitive traits owing to ASD rather than co-occurrence; gender dysphoria treated |
| 2005 | Galluci et al | 41 | Gender dysphoria symptoms with diagnosed ASD | Male | OCD | Queried whether secondary to comorbidity of OCD in ASD and gender dysphoria secondary to obsessive thoughts or gender dysphoria |
| 2014 | Lemaire et al | 23 | Gender dysphoria symptoms and requesting cross sex hormones and genital reconstructive surgery; diagnosed with ASD | Female | Borderline IQ | Gender dysphoria but also suggested treatment with psychotherapy before consideration of cross sex hormones and/or surgery |
| 2014 | Jacobs et al | 29 and 20 | Gender dysphoria with diagnosed ASD | Male | None stated | Treatment with cross sex hormones; however, struggled to present in recognizable female role; queried a struggle with theory of mind |
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In 2010, De Vries et al12x12De Vries, A.L., Noens, I.L., Cohen-Kettenis, P.T., van Berchelaer-Onnes, I.A., and Doreleijers, T.A. Autism spectrum disorders in gender dysphoric children and adolescents. J Autism Dev Disord. 2010;
40: 930
Crossref | PubMed | Scopus (161) | Google ScholarSee all References undertook a cohort trial to determine the co-occurrence of GID, as defined in the ICD-10,5x5World Health Organisation. The ICD-10 classification of mental and behaviour disorders. 10th ed. World Health Organisation,
Geneva; 1992
Google ScholarSee all References and ASD, according to the DSM-IV-TR.7x7American Psychiatric Association. Diagnostic and statistical manual of mental disorders (fourth edition, text revision). American Psychiatric Association,
Washington DC; 2000
Crossref | Google ScholarSee all References The sample was comprised of children (n = 108) and adolescents (n = 96) who were referred to a national gender identity clinic in the Netherlands and were clinically diagnosed with GID by a senior clinician. The study found that the prevalence of ASD in children with GID was 1.9% (n = 1) and 13% (n = 6) for those with GID not otherwise specified (NOS; disorders of gender identity that are not classifiable as a specific GID).7x7American Psychiatric Association. Diagnostic and statistical manual of mental disorders (fourth edition, text revision). American Psychiatric Association,
Washington DC; 2000
Crossref | Google ScholarSee all References Interestingly, in six of the children, their gender dysphoria alleviated at 1-year follow-up, which is fitting with previously published data.40x40Zucker, K.J. and Bradley, S.J. Gender identity disorder and psychosexual problems in children and adolescents. Guilford,
New York; 1995
Google ScholarSee all References, 41x41Cohen-Kettenis, P. and Pfäfflin, F. Transgenderism and intersexuality in childhood and adolescence. Sage,
Thousand Oaks, CA; 2003
Google ScholarSee all References, 42x42Wallien, M.S.C. and Cohen-Kettenis, P.T. Psychosexual outcomes of gender dysphoric children. J Am Acad Child Adolesc Psychiatry. 2008;
47: 1413
Abstract | Full Text | Full Text PDF | PubMed | Scopus (247) | Google ScholarSee all References The study also found that the prevalence of ASD in all assessed adolescents was 9.4% (n = 9), 6.5% in those with GID (n = 5), and 37.5% (n = 3) for those with GID NOS. The study concluded that the combined prevalence of ASD within the combined sample was 7.8% (n = 16), 4.7% (n = 6) in those with GID, and 17.0% (n = 9) in GID NOS. This is significantly higher than the prevalence of ASD in the general population as previously reported.15x15Bloomberg, S.J., Bramlet, M.D., Kogan, M.D., Schieve, L.A., Jones, J.R., and Lu, M.C. Changes in prevalence of parent-reported autism spectrum disorder in school-aged U.S. children 2007–2012. Natl Health Stat Rep. 2013;
65: 1
PubMed | Google ScholarSee all References, 43x43Fombonne, E. Epidemiology of autistic disorder and other pervasive developmental disorders. J Clin Psychiatry. 2005;
66: 3
PubMed | Google ScholarSee all References De Vries et al12x12De Vries, A.L., Noens, I.L., Cohen-Kettenis, P.T., van Berchelaer-Onnes, I.A., and Doreleijers, T.A. Autism spectrum disorders in gender dysphoric children and adolescents. J Autism Dev Disord. 2010;
40: 930
Crossref | PubMed | Scopus (161) | Google ScholarSee all References used a well-validated diagnostic tool for ASD, the Diagnostic Interview for Social and Communication Disorder.44x44Wing, L., Leekam, S.R., Libby, S.J., Gould, J., and Larcombe, M. The diagnostic interview for social and communication disorders: background, inter-rater reliability and clinical use. J Child Psychol Psychiatry. 2002;
43: 307
Crossref | PubMed | Scopus (361) | Google ScholarSee all References However, patients were selected for further examination with the Diagnostic Interview for Social and Communication Disorder only if the clinician suspected a diagnosis; therefore, possible cases could have been missed by the researchers.
Some researchers have examined specific psychological functions that are characteristic of ASD. For instance, Di Ceglie et al35x35Di Ceglie, D., Skagerberg, E., Baron-Cohen, S., and Auyeung, B. Empathising and systemising in adolescents with gender dysphoria. Opticon. 2014;
16: 1
Google ScholarSee all References set out to explore systemizing and empathizing (two psychological constructs related to ASD) in adolescents with gender dysphoria attending their clinical service. They asked parents of the trans adolescents and of a cis (non-trans) control group to complete the adolescent EQ and SQ. They found that the mean EQ score of trans-girls and trans-boys was significantly lower than that of control cis girls but similar to that of control cis boys. With regard to the SQ, there was no difference between the trans participants and controls. The study is limited by the small sample (n = 35) and poor sampling methods (ie, trans people were recruited from only one clinical service), which makes the study non-generalizable.
Most of the literature is concerned with the presence of ASD among referrals at a gender identity clinic, so Strang et al37x37Strang, F.J., Kenworthy, L., Dominska, A., Sokoloff, J., Kenealy, E.L., Berl, M. et al. Increased gender variance in autism spectrum disorders and attention deficit hyperactivity disorder. Arch Sex Behav. 2014;
43: 1525
Crossref | PubMed | Scopus (55) | Google ScholarSee all References set out to examine gender variance among children (n = 554) and adolescents (n = 147) who were primarily diagnosed with a range of neurodevelopment disorders, including ASD. A chart review was conducted and ASD was measured using the Autism Diagnostic Interview45x45Le Couteur, A., Rutter, M., Lord, C., Rios, P., Robertson, S., Holdgrafer, M. et al. Autism Diagnostic Interview: a standardized investigator-based instrument. J Autism Dev Disord. 1989;
19: 363
Crossref | PubMed | Scopus (759) | Google ScholarSee all References or Autism Diagnostic Interview–Revised,46x46Lord, C., Rutter, M., and Le Couteur, A. Autism Diagnostic Interview–Revised: a revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders. J Autism Dev Disord. 1994;
24: 659
Crossref | PubMed | Scopus (5473) | Google ScholarSee all References which is a detailed parent interview of developmental history and autism symptoms. The Autistic Diagnostic Observation Schedule47x47Lord, C., Rutter, M., DiLavore, P., and Risi, S. Autism Diagnostic Observation Schedule. ADOS Manual. Western Psychological Services,
Los Angeles; 2002
Google ScholarSee all References also was used; this tool is a structured play and conversational interview to elicit symptoms of ASD. Higher scores indicate greater autism. The findings showed that compared with controls, children and adolescents with ASD were 7.59 times more likely to express gender variance. However, the CBCL was used to assess gender variance, which might have limited the findings because this tool is a parent checklist used to detect emotional and behavioral problems. This study would have benefited from using a more specific measurement of gender dysphoria (eg, Utrecht Gender Dysphoria Scale).
VanderLaan et al29x29VanderLaan, D.P., Leef, J.H., Wood, H., Hughes, S.K., and Zucker, K.J. Autism spectrum disorder risk factors and autistic traits in gender dysphoric children. J Autism Dev Disord. 2015;
6: 1742
Crossref | Scopus (27) | Google ScholarSee all References went on to try to establish predictive factors for ASD traits in children (n = 49) diagnosed with gender dysphoria. The parents of the children were asked to complete the SRS,34x34Constantino, J.N. and Gruber, C.P. Social Responsiveness Scale (SRS). Western Psychological Services,
Los Angeles, CA; 2005
Google ScholarSee all References which requires parents to rate social awareness, social cognition, social communication, social motivation, and repetitive behaviors of their child. It is a validated tool and differentiates among mild ASD, high functioning ASD, and severe autism. Gender nonconformity was assessed using the Gender Identity Questionnaire for Children,48x48Johnson, L.L., Bradley, S.J., Birkenfeld-Adams, A.S., Kuksis, M.A.R., Maing, D.M., Mitchell, J.N. et al. A parent-report gender identity questionnaire for children. Arch Sex Behav. 2005;
33: 105
Crossref | Scopus (74) | Google ScholarSee all References which also is a parent report questionnaire. The study found that gender nonconformity and high birth weight were, independently and combined, a predictive factor for increased ASD traits. Limiting these findings was the reliance on parent report questionnaires, which are not diagnostic tools. Another study using the SRS33x33Skagerberg, E., Di Ceglie, D., and Carmichael, P. Brief report: autistic features in children and adolescents with gender dysphoria. J Autism Dev Disord. 2015;
45: 2628
Crossref | PubMed | Scopus (30) | Google ScholarSee all References compared the responses of 166 parents of children presenting with gender dysphoria to a previously established SRS mean.49x49Wigham, S., McConachie, H., Tandos, J., Le Couteur, A., and Gateshead Millennium Study Core Team. The reliability and validity of the Social Responsiveness Scale in a UK general child population. Res Dev Disabil. 2012;
33: 944
Crossref | PubMed | Scopus (34) | Google ScholarSee all References This study found that 54.2% of children and adolescents in the study scored in the mild to moderate and severe range, indicating difficulties in social behavior. No difference was found in autistic features between natal girls and boys. The investigators concluded that the large number of participants who showed an indication of ASD reflects the poor specificity of the SRS when used with individuals who present with symptoms of gender dysphoria.
More recently, VanderLaan et al36x36VanderLaan, D.P., Postema, L., Wood, H., Singh, D., Fantus, S., Hyun, J. et al. Do children with gender dysphoria have intense/obsessional interests?. J Sex Res. 2015;
52: 213
Crossref | PubMed | Scopus (28) | Google ScholarSee all References recruited children referred to a gender identity clinic, their siblings, and children referred for intense or obsessional interests. Questions 9 (obsession) and 66 (compulsion) were used from the CBCL, which is used as a method for identifying problematic behavior in children. A significant increase in obsession was noted in boys and girls referred to a gender identity clinic compared with the three other groups. In addition, a significant increase in compulsion was found for boys and girls referred to a gender identity clinic compared with their siblings and non-gender clinic referred children. This study has a very good level of participants, including children referred to a gender identity clinic (n = 534), their siblings (n = 419), and non-gender clinic referred children (n = 1,201), but relies on only two questions about obsession, which might limit the validity of the findings.
Another recent study reported an overrepresentation of severe adolescent developmental disorders in children under the care of a Finnish gender identity clinic for 2 years.30x30Kaltiala-Heino, R., Sumia, M., Työläjärvi, M., and Lindberg, N. Two years of gender identity service for minors: overrepresentation of natal girls with severe problems in adolescent development. Child Adolesc Ment Health. 2015;
9: 9
Crossref | Scopus (47) | Google ScholarSee all References Twelve children (26%) in their total sample had previously been diagnosed with ASD according to a psychiatric case note review. No re-establishment of the diagnosis of ASD was made, which limits the validity of the findings.
There also have been several case studies describing ASD in children and adolescents with gender dysphoria. For example, Williams et al21x21Williams, P.G., Allard, A., and Sears, L. Case study: cross-gender preoccupations in two male children with autism. J Autism Dev Disord. 1996;
26: 635
Crossref | PubMed | Scopus (52) | Google ScholarSee all References discussed “cross-gender preoccupation” in two natal autistic boys (5 and 3 years old). These children showed more interest in feminine toys than in masculine toys and enjoyed cross-dressing. For the eldest, after a 1-year follow-up, the cross-dressing and preference for feminine toys remained, despite improvement in their psychological function. The investigators believed this was a likely manifestation of the children’s autism, but did query GID. A year later Landén and Rasmussen22x22Landén, M. and Rasmussen, P. Gender identity disorder in a girl with autism—a case report. Eur Child Adolesc Psychitry. 1997;
6: 170
Crossref | PubMed | Google ScholarSee all References reported the case of a 14-year-old natal girl with a diagnosis of ASD and obsessive compulsive disorder (OCD) who at 8 years of age started to claim to be a boy. The child presented with clear gender dysphoric symptoms and these continued at follow-up. Mukaddes23x23Mukaddes, N.M. Gender identity problems in autistic children. Child Care Health Dev. 2002;
24: 529
Crossref | Scopus (45) | Google ScholarSee all References described two natal boys with a diagnosis of high functioning autism who showed persistent gender identity incongruence that continued throughout a 4-year follow-up period. Perera et al24x24Perera, H., Gadambanathan, T., and Weerasiri, S. Gender identity disorder presenting in a girl with Asperger's disorder and obsessive compulsive disorder. Ceylon Med J. 2003;
48: 57
Crossref | PubMed | Google ScholarSee all References reported the case of a 20-year-old natal woman who had been followed since 9 years of age with diagnoses of Asperger syndrome and OCD and who presented with GID. They reported a continuation of the OCD symptoms but a lessening of the GID symptoms at follow-ups.
Overall, the literature in children and adolescents with gender dysphoria and ASD is very limited and relies primarily on case reports. Although case studies can provide an in-depth discussion about the complex interplay between ASD and symptoms of gender dysphoria (and in some cases other disorders), they are limited by the fact that they cannot be generalized. Nevertheless, robust studies conducted in this area suggest that the prevalence rates of ASD in children and adolescents with symptoms of gender dysphoria are considerably higher than in the general population.
