Autistic Symptoms in Children and Adolescents with Gender Dysphoria
Journal of Autism and Developmental Disorders
Autistic Symptoms in Children and Adolescents with Gender Dysphoria
Anna I. R. van der Miesen 0 1 2
Annelou L. C. de Vries 0 1 2
Thomas D. Steensma 0 1 2
Catharina A. Hartman 0 1 2
0 Department of Psychiatry, University of Groningen, University Medical Center Groningen , Groningen , The Netherlands
1 Department of Medical Psychology, VU University Medical Center , Amsterdam , The Netherlands
2 Center of Expertise on Gender Dysphoria, VU University Medical Center , PO box 7057, 1007 MB Amsterdam , The Netherlands
3 Anna I. R. van der Miesen
Studies have shown an increase of symptoms of autism spectrum disorder (ASD) in gender dysphoria (GD). Various hypotheses try to explain this possible co-occurrence (e.g., a role of resistance to change, stereotyped behaviors or prenatal testosterone exposure). This study examined ASD symptoms with the Children's Social Behavior Questionnaire (CSBQ) in 490 children with GD compared to 2507 typically developing (TD) and 196 children with ASD. CSBQ total scores of the GD sample were in between scores from the TD and ASD sample. The GD sample showed elevated levels of autistic symptomatology on all subdomains, not only on stereotyped and resistance to change. Further, no gender differences and interaction effects were found on the total CSBQ, making a sole role for prenatal testosterone unlikely.
Autism spectrum disorder; Comorbidity; Co-occurrence; Gender dysphoria; Gender identity disorder
Symptoms of gender dysphoria (GD) as defined in the
DSM-5 are a marked incongruence between one’s
experienced and assigned gender along with a persistent and strong
desire to be of the other gender (APA 2013). The estimated
prevalence rates of GD in adults are 1:10,000–1:20,000
for males and 1:30,000–1:50,000 for females
and a recent meta-analysis of
Arcelus et al.
) reported a prevalence of GD in adults of 4.6:100,000.
Autism spectrum disorder (ASD) consists of problems in
social communication and interaction in addition to
repetitive behavior and specific interests (APA 2013). In children,
the overall prevalence of ASD is estimated at 1%; 1:42 for
boys and 1:189 for girls respectively
(Lai et al. 2014)
current paper will refer to boys/men or girls/women when
assigned gender at birth is male respectively female, which
may be incongruent from the experienced gender in the case
There are several case reports on individuals with both
ASD and GD
(e.g., Landen and Rasmussen 1997; Lemaire
et al. 2014)
. The first systematic study that focused on the
incidence of an ASD diagnosis in children and adolescents
referred to a specialized gender identity clinic (de Vries et al.
2010) reported an ASD rate, by using a diagnostic interview,
of 7.8%. This is higher than expected based on the
prevalence in the general population
(Fombonne 2005; de Vries
et al. 2010)
, although comparison with a clinical control
group was lacking. The study additionally demonstrated an
overrepresentation of ASD diagnoses in boys compared to
girls with a ratio of 3:1 (de Vries et al. 2010).
Three subsequent studies on GD and ASD focused on
symptoms of ASD (instead of an ASD diagnosis) in GD
(Jones et al. 2012; Pasterski et al. 2014;
Skagerberg et al. 2015)
. Pasterski et al. (2014) investigated
adults with GD using the Autism Spectrum Quotient
Woodbury-Smith et al. 2005)
. Utilizing the threshold for a
potential diagnosis, an ASD-rate of 5.5% was found with
no significant gender difference in mean AQ. Jones et al.
(2012) compared adults with GD, typical adults and adults
diagnosed with ASD. While also using the AQ to measure
autistic traits, in this study, the Broader Autistic Phenotype
(BAP) was investigated. The BAP is defined more broadly
than the more circumscribed ASD phenotype as a subclinical
set of traits or characteristics that index familiality to ASD
(Woodbury-Smith et al. 2005)
. 17.5% of the GD sample had
a score above the AQ cut-off for BAP, with, in contrast to
the male–female distribution in ASD, more females with
GD scoring above the cut-off than males with GD.
Skagerberg et al. (2015) measured autistic symptoms in children
and adolescents with GD using the Social Responsiveness
(SRS; Constantino and Gruber 2005)
. The SRS is a
quantitative measure of autistic symptoms and the total score
is divided into three subgroups (severe, mild/moderate and
normal range). Skagerberg et al. found ASD scores that fell,
on average, in the mild/moderate range in the GD sample
and in the normal range in a typical developing (TD) sample.
No significant difference between boys and girls with GD
was found. Only one study examined risk factors for ASD
in children with GD. This study used the SRS to measure
ASD symptoms and found that 44.9% scored in the severe or
(VanderLaan et al. 2015a)
et al. used the Gender Identity Questionnaire for Children
to measure gender nonconformity
(Johnson et al. 2004)
coded for putative risk factors for ASD of advanced
parental age, high male:female-sibling sex ratio and high birth
weight. It was found that only high birth weight, but not
the other risk factors, was associated with both high gender
nonconformity and autistic traits among children with GD.
While these aforementioned studies examined ASD
symptoms in GD samples, only two studies of children
(Janssen et al. 2016; Strang et al. 2014)
, and one study of
adults (Dewinter et al. 2017) took the converse approach and
investigated GD symptoms within an ASD population.
Children with ASD were compared to non-referred controls and
were asked for feelings of gender variance by one item of
the Child Behavior Checklist (CBCL): “Wishes to be of the
(Achenbach and Rescorla 2001)
. Strang et al.
(2014) found that children with ASD were 7.59 times more
likely to express gender variance compared to their typically
developing peers, and the gender variance occurred equally
in boys and girls. Janssen et al. (2016) found that children
with ASD were 7.76 times more likely to express gender
variance than children from the non-referred comparison
group, with no significant difference between boys and girls.
In the study in adults with ASD, Dewinter et al. found that
in both men and women 0.9% identified as those opposite of
their assigned gender at birth. About 22% of women and 8%
of the men with ASD reported some gender non-conforming
feelings. As no reference data were available, no
statistical comparisons with estimates from the general population
could be made
(Dewinter et al. 2017)
Thus, although specific findings and methodology
differ somewhat from one study to the other, almost all found
increased symptoms of ASD in individuals with GD and
vice versa. Several hypotheses have been put forward to
understand these findings
(for an overview see van der
Miesen et al. 2016)
. In the theory of the extreme male brain
(EMB), it is posited that individuals with ASD demonstrate
an extreme of the typical male pattern of behaviors and
cognitions originating from high levels of fetal testosterone
. Fetal levels of testosterone are also
suggested to be related to (symptoms of) GD, especially in
assigned girls at birth, explaining their male identity and
behavior. Findings of the study of Jones et al. (2012)
supported the prediction of the EMB that females with GD
would show more autistic traits than males with GD. Apart
from the EMB theory, it has been hypothesized that one
specific subdomain of the cluster B repetitive or obsessive
symptoms of the autistic spectrum, i.e., rigidity or
resistance to change, might specifically contribute to this
(APA 2013; de Vries et al. 2010)
typical gender identity development, young children
demonstrate more rigidity than older children with respect to
gender identity but after age 5 years this rigidity generally
(Ruble et al. 2007)
. It is hypothesized that
individuals with ASD might not reach a certain level of
flexibility in gender development necessary to deal with gender
variant feelings, which might lead to the overrepresentation
of ASD in GD
(de Vries et al. 2010)
. Others have suggested
a link between obsessions in GD and ASD
(Gallucci et al.
2005; Parkinson 2014; VanderLaan et al. 2015b; Williams
et al. 1996)
. For example, in a case report about an assigned
male at birth, it was suggested that stereotyped cross-gender
behavior (pre-occupation with feminine cross-dressing and
bright and shiny objects) might be attributed to these
(Williams et al. 1996)
VanderLaan et al. (2015
investigated these intense interests and obsessions in
children with GD. Compared to their non GD siblings, boys
with GD showed more obsessional interests in both
genderrelated and non-gender related subjects. It was suggested
that the clinical presentation of GD might arise because of
the contribution of obsessional cross-gender interests
stemming from ASD.
described two young men
with ASD and the wish for medical gender reassignment
treatment. In both cases, feelings of GD desisted and it was
cautioned that apparent GD might actually be a transient
obsessive preoccupation related to ASD. Another
possibility might be that social impairments in individuals with GD
are not actual ASD symptoms but stem from stress due to
sexual minority status and stigma
(Baams et al. 2013; Holt
et al. 2014; Skagerberg et al. 2015)
In summary, studies found an overrepresentation of
(symptoms of) ASD in individuals with GD and vice versa
but so far have focused either on symptom levels of ASD
in adults with GD
(Jones et al. 2012; Pasterski et al. 2014)
or autistic symptoms in children and adolescents without
the use of a control sample with ASD (Skagerberg et al.
2015) or focused only on ASD diagnoses
(de Vries et al.
. A focus on diagnosis is less sensitive to the presence
of subthreshold or mild autistic symptoms, which may be
highly relevant in this group. As with regard to underlying
mechanisms, two hypotheses have been posited. Some prior
results supported the theory of the EMB
(Jones et al. 2012)
although other findings did not
(de Vries et al. 2010;
Pasterski et al. 2014; Skagerberg et al. 2015; Strang et al. 2014)
Others have suggested overlap particularly on the subdomain
of rigidity or repetitive and obsessive behaviors of the
(APA 2013; de Vries et al. 2010; Gallucci et al.
2005; Parkinson 2014; VanderLaan et al. 2015b; Williams
et al. 1996)
or only in the social domain
(Holt et al. 2014)
Therefore, in a large sample of children and adolescents
with GD, we examined the presence of autistic symptoms
in children and adolescents with GD and compared these to
symptom levels in typically developing (TD) children and
adolescents and children and adolescents with ASD. We
expected to find, first, higher levels of autistic symptoms
in children and adolescents with GD than in TD
developing children and adolescents. Second, we predicted that
symptoms of specific subdomains (stereotyped behavior or
obsessions) of the autistic spectrum would be particularly
elevated in this sample. Third, we tested whether gender
differences that could support the EMB theory exist in our
sample by investigating gender differences and the
interactions by gender between the groups with respect to ASD
symptoms in children and adolescents with GD compared
to their TD peers.
Participants and Procedure
The current study included a total of 3245 participants. A
sample of children and adolescents with GD (N = 542) were
investigated and compared to two groups from a Dutch
normative study: children and adolescents with ASD (N = 196)
and TD children and adolescents (N = 2507)
(Hartman et al.
Between March 2005 and December 2012, the 542
children and adolescents with GD were consecutively referred
to the Center of Expertise on Gender Dysphoria of the VU
University Medical Center in Amsterdam and included in
the study. Children and parents had various sessions with
a trained psychologists and/or psychiatrists and filled out
(de Vries and Cohen-Kettenis 2012)
IQ in the GD sample was 99.53
(SD = 14.61; Wechsler 1997;
Wechsler et al. 2002)
. At the time of the study, the DSM-5
criteria for GD were not published yet. Diagnosis was made
based on the DSM-IV-TR criteria for Gender Identity
Disorder (GID; APA 2000). As GD is currently considered to
be the preferred terminology, we use the term GD instead
of GID. Fifty-two participants were unable to complete
the diagnostic protocol, and did therefore not participate
in this study. Reasons for drop out were severe
interfering psychosocial problems or desistance of GD symptoms.
This resulted in a total group of 490 participants with GD
(mean age = 11.1, SD = 3.73), 248 boys (mean age = 10.1,
SD = 3.79) and 242 girls (mean age = 12.1, SD = 3.39).
Included participants did not differ from not included
participants with regard to age (χ2 = 2.698, p = 0.259) and IQ
(F = 0.23, p = 0.631). However, significantly more boys were
not included than girls (χ2 = 12.89, p = 0.001). The ethical
committee approved this study and all parents gave
written informed consent as well as all adolescents above age
The first comparison group consisted of 2507 TD
children and adolescents (mean age = 10.1, SD = 3.73), 1248
boys (mean age = 10.2, SD = 3.72) and 1259 girls (mean
age = 10.1, SD = 3.73). This normative sample was recruited
between June 1996 and December 2000 from primary and
secondary schools in the Netherlands
(Hartman et al. 2015)
Caregivers of these children were approached through
randomly selected schools.
The second comparison group consisted of 196 children
and adolescents (mean age = 10.8, SD = 3.08), 100 boys
(mean age = 10.8, SD = 2.96) and 96 girls (mean age = 10.7,
SD = 3.23) with an ASD diagnosis. This group was clinically
referred for diverse behavioural, emotional and
developmental problems between June 1996 and December 2000 to a
child and adolescent psychiatry clinic in the Netherlands
(Hartman et al. 2006)
. Child and adolescent psychiatrists
made the DSM-IV classifications after their diagnostic
(Hartman et al. 2006)
. These procedures included
clinical interviews, in which caregivers described the present
functioning of their children and the developmental history.
Play sessions with children provided additional information
and staff officials provided information about the children’s
behavior at school.
The Children’s Social Behaviour Questionnaire (CSBQ) was
used to investigate symptoms of ASD and was completed
by parents or caregivers
(Hartman et al. 2006, 2015)
CSBQ consists of 49 items on a 3-point Likert scale
regarding different symptoms of ASD and has six subscales:
1. The tuned subscale assesses the extent of situation
appropriate behavior and emotions. This subscale
contains of 11 items and an example is “Does not know
when to stop”. Higher scores represent child
characteristics such as being overly stubborn or persistent
2. The social subscale measures responses to social
contact, social needs and initiation of contact. This subscale
includes 12 items, for example: “Lives in a world of
his/her own”. Children who have a high score on this
subscale show less reciprocal behavior and less social
3. The orientation subscale assesses orientation in activity,
time and place. This subscale consists of eight items.
Examples of items are: “Does things without realizing
the aim” and “Gets lost easily”. Children who have a
high score on this subscale lack the overview of
activities and situations.
4. The understanding subscale measures the ability to
understand social information with respect to the use of
language and communication. This subscale contains
seven items. An example of an item is: “Does not
5. The stereotyped subscale assesses the occurrence of
stereotyped movements and atypical responses to
information from the senses. This subscale includes eight items,
for instance: “Smells objects” and “Sways to and fro”.
Children who have a high score on this subscale are for
example very sensitive to certain sounds or other input
to the senses and make unusual movements with their
hands and body.
6. The change subscale represents aspects related to the
feeling of fear and resistance to change. This subscale
consists of three items and an example is: “Opposes
changes”. Children with a high score on this subscale
react strongly to new situations and stick to routines.
The reliability and validity of the CSBQ were considered
good and included estimates for test–retest, internal, and
inter-rater reliability, and for validity with criterion measures
(e.g. theory of mind, diagnostic outcome)
(de Bildt et al.
2009; Hartman et al. 2006, 2015)
. Although the CSBQ is
not a diagnostic instrument, a threshold total CSBQ score
of 38 or higher was indicated as suggestive for a possible
DSM classification of ASD which corresponds to the 96.5th
percentile in the current TD sample
(Luteijn et al. 2002)
First, between group differences were analyzed using
multivariate general linear modelling (GLM) on the six scales
of the CSBQ simultaneously. Second, a multivariate GLM
analysis with assigned gender at birth and a gender by
group interaction as additional predictors was used to
identify possible gender differences. These multivariate tests
were followed up by univariate GLM analyses per subscale
of the CSBQ. Cohen’s d was used to measure effect sizes
between the GD group and comparison groups
. An effect size of 0.80 or larger was considered as
large, 0.50–0.79 as medium, and 0.20–0.49 as small, and an
effect size smaller than 0.20 as negligible. For subscales that
differed among the groups, post-hoc t tests were applied to
further characterize the scores of the GD group relative to
normative TD behavior as well as to the scores typical for
children diagnosed with ASD.
Children and Adolescents with Gender Dysphoria
Versus Comparison Groups
Table 1 shows the mean total CSBQ (sub-)scores per
sample. On average, the scores of the children and adolescents
with GD were all in between the scores of TD children
and adolescents and those diagnosed with ASD. A
multivariate GLM analysis with group as a fixed factor and the
CSBQ subscales as the dependent measures showed an
overall difference using Pillai’s Trace (F= 689.68; df = 7;
p < 0.001). Subsequent univariate GLM analyses for the total
CSBQ, and the CSBQ subscales separately, indicated that
groups differed from each other on the total CSBQ scale
(F = 587.15; df = 2; p < 0.001) as wel as on all subscales (all
six univariate p values < 0.001). Post-hoc analysis showed
that children and adolescents with GD had significantly
higher mean scores on all subscales as well as on the total
CSBQ in comparison with the TD sample. In addition,
children and adolescents with GD had significantly lower
scores than those diagnosed with ASD on the total CSBQ
score and on all subscales. In terms of effect sizes, these
differences tended to be large when comparing scores of GD
with those of children and adolescents diagnosed with ASD
(mean Cohen’s d across subscales: 1.00; see further Table 1
for effect sizes per subscale) and medium when scores of
children and adolescents with GD were compared to those
of TD children and adolescents (mean Cohen’s d across
Gender Differences Within Children and Adolescents with Gender Dysphoria Versus Comparison Groups
On the CSBQ total scale the aforementioned effect of group
was confirmed, and there was no main effect of assigned
gender at birth nor a group by gender interaction effect. Results
of a multivariate GLM analysis on the six CSBQ subscale
scores with these predictors also confirmed the
aforementioned described group effect. In addition, there was a main
effect of assigned gender at birth (F= 5.42; df = 7; p < 0.001)
and a group by gender interaction effect (F= 8.78; df = 14;
p < 0.001) for the multivariate analysis of the six CSBQ
GD children and adolescents with gender dysphoria, TD typically developing children and adolescents, ASD children and adolescents with ASD,
CSBQ Children’s Social Behaviour Questionnaire
aAdditional post-hoc analyses comparing the sample with gender dysphoria with the typically developing and ASD sample demostrated that on
all subscales as well as on the total score, children and adolescents with gender dysphoria had a significantly higher score than typically
developing children and a significantly lower score than children with ASD
bdf = 2
cEffect sizes Cohen’s d: 0.80 or higher is a large effect size, 0.50–0.79 a medium effect size and 0.20–0.49 small. Effect sizes less than 0.20 are
dTuned behavior not optimally changed to the situation, Social reduced social interest and contact, Orientation orientation problems, in
activity, place of time, Understanding difficulties in understanding social information, Stereotyped stereotyped behavior, Change fear or resistance to
subscale scores. Subsequent univariate analyses indicated
that the group by gender interaction effects were present on
the subscales social, orientation, stereotyped and change, as
illustrated in Fig. 1, specifically 1a, 1b, 1c and 1d. Group by
gender interactions were not found on the subscales tuned
(p = 0.802) and understanding (p = 0.752) (Fig. 1e, f).
Figure 1 and a within-group post-hoc t tests revealed that
the interaction arose because in the GD sample, boys had
a lower social mean score than girls (see Table 2 for mean
scores for boys and girls separately for the three groups on
all (sub-)scales, test results, and effect sizes), indicating
somewhat less reciprocated social behavior and social
interest for girls with GD compared to boys with GD (t = −1.70;
df = 488; p = 0.089; d = −0.15) whereas in the TD group,
boys had a higher social mean score than girls, indicating
less reciprocated behavior and less social interest for TD
boys (t = 6.61; df = 2505; p < 0.001; d = 0.26). By
comparison, boys diagnosed with ASD scored almost similar as girls
with ASD (t = 0.23; df = 194; p = 0.811; d = 0.03). Thus, on
the social scale, the higher scores of girls with GD compared
to boys with GD were atypical compared to normative
gender differences in the TD population.
Table 2 and Fig. 1 show that on the orientation subscale
in children and adolescents with GD, boys had more
orientation problems than girls. A post hoc t test revealed that this
was a significant difference (t= 2.09; df = 488; p = 0.037;
d = 0.18). In TD children and adolescents, boys had also
more orientation problems than girls (t = 6.31; df = 2505;
p < 0.001; d = 0.25). In contrast, in children and adolescents
diagnosed with ASD, girls had more orientation problems
than boys (t = −1.93; df = 194; p = 0.054; d = 0.28). The
gender differences in children and adolescents with GD were
thus like those in TD children and adolescents but differed
from children and adolescents with ASD.
Figure 1 shows that on the stereotyped scale in the GD
group, boys showed more stereotyped behaviors and sensory
sensitivity than girls and a post-hoc t test showed that this
was a significant difference (t= 6.57; df = 488; p < 0.001;
d = 0.71). This also held for the TD group (t = 4.34;
df = 2505; p < 0.001; d = 0.18), although the gender
difference on stereotyped was more pronounced in GD than in TD
children and adolescents (d = .71 vs. d = .18). Conversely,
in children diagnosed with ASD, girls and boys had
equivalent scores on the stereotyped subscale (t = −0.32; df = 194;
p = 0.746; d = −0.05).
Figure 1 illustrates that in children and adolescents with
GD, girls and boys had similar scores on resistance to
change (t = −1.09; df = 488; p = 0.275; d = 0.10). This was
similar in the ASD group (t = −0.49; df = 194; p = 0.620;
d = 0.07). In contrast, in TD children and adolescents, boys
showed more resistance to change than girls (t = 2.84;
df = 2505; p = 0.004; d = 0.11). Thus, gender differences in
children and adolescents with GD in resistance to change
were not present, comparable to the absence of differences
in those diagnosed with ASD, in contrast to boys scoring
higher than girls in TD children and adolescents.
In summary, the gender by group interaction effects
indicated that, relative to TD children and adolescents, gender
Fig. 1 CSBQ mean scores on the six ASD domains in boys and girls with GD compared with TD children and children diagnosed with ASD
differences within the GD group were atypical on the social
(GD girls higher than GD boys), stereotyped (GD boys
substantially higher than GD girls), and resistance to change
(no differences between GD boys and GD girls vs. TD boys
higher than TD girls) scales. This variable pattern for GD
boys and GD girls explains the absence of effects of assigned
gender at birth on the total CSBQ score.
It is important to emphasize that these gender by group
interaction effects occur on top of the main effects of group.
As reported for our GLM analyses, and as illustrated in
Fig. 1, it holds for boys and girls with GD alike that,
compared to TD children and adolescents, their ASD symptoms
are higher, and compared to children and adolescents
diagnosed with ASD, their ASD symptoms are substantially
Boys and Girls with Gender Dysphoria Versus
Typically Developing Boys and Girls: Cross Gender
To compare GD boys with TD girls and TD boys, and GD
girls with TD boys and TD girls, as has been done in earlier
studies to investigate aspects of the EMB theory
al. 2012; Pasterski et al. 2014)
, we additionally provide
within and cross-gender effect sizes in Table 3.
Confirming the analyses, post-hoc t tests revealed that on all scales,
GD boys scored higher than TD girls (p < 0.001) and TD
boys (p < 0.001), and GD girls scored higher than TD boys
(p < 0.001) and TD girls (p < 0.001).
Applying a Dichotomous Cut‑off for Suggestive ASD
Finally, as in previous studies
(Joneset al. 2012; Pasterski
et al. 2014)
, we applied a dichotomous cut-off in order to
generate a tentative estimate of ASD in children and
adolescents with GD relative to an estimate in the normative
population sample. 14.5% of children and adolescents with
GD had a threshold score of 38 or higher, potentially
suggestive of an ASD diagnosis, compared to 3.5% in our
normative sample. No differences were found between the number
of GD boys and GD girls above this threshold (χ2 = 55.89;
p = 0.808).
As hypothesized, children and adolescents with GD had,
on average, more autistic symptoms compared to TD
children and adolescents but less autistic symptoms compared
to children and adolescents with ASD. Although the CSBQ
is a questionnaire for screening and not a diagnostic
instrument, applying the recommended cut-off indicating that
further diagnostic research is warranted for a possible clinical
diagnosis for ASD
(Luteijn et al. 2002)
, the prevalence was
14.5%, which is approximately four times higher than the
3.5% in the normative sample and also higher than the
current prevalence estimate of 1% in the general population
et al. 2014)
. Thus, as in other studies, an
over-representation of symptoms of ASD in children and adolescents with
GD was confirmed
(Jones et al. 2012; Pasterski et al. 2014;
Skagerberg et al. 2015)
However, contrary to our second hypothesis, children and
adolescents with GD not only had more stereotyped behavior
and resistance to change but also more difficulties in social
interest and reciprocity, tuning to social situations,
orientation problems and the understanding of social language
compared to TD children and adolescents. This is partly
in line with the study of
VanderLaan et al. (2015
suggested that specifically intense obsessional interests are
one of the hypothesized mechanisms underlying the
possible GD-ASD co-occurrence. Our results point to several
subdomains of the autistic spectrum that might be involved
in this possible association, including social and
communication difficulties as suggested earlier by Strang et al. (2014)
VanderLaan et al. (2015
a). Indeed, in clinical practice,
we know that adolescents with ASD who have always felt
‘strange’ or ‘different’ compared to their peers may attribute
this “strangeness” to having feelings of GD
(de Vries and
. Yet, their feelings of being
different may possibly have a broader background than GD. It
must additionally be noted that our finding that rigidity and
repetitive and obsessive behaviors do not take precedence
over the other ASD domains does not necessarily imply that
these behaviors are not the primary contributing factors to
the genesis of GD.
The third hypothesis, the EMB theory
, which predicts more ASD symptomatology in girls
with GD compared to boys with GD, was not supported
with respect to the total CSBQ score where we did not find
significant differences between boys and girls nor a gender
by group interaction. Rather, it was found that both girls
and boys with GD scored significantly higher than TD
boys and girls. While for girls with GD and ASD, a high
level of prenatal androgen exposure could contribute to the
co-occurrence, for boys the co-occurrence of GD and ASD
remains unexplained by this theory. There is one study in
adults with ASD that showed that women have increased
masculine behavioral characteristics compared to control
women while men with ASD showed increased feminine
(Bejerot and Eriksson 2014)
. The authors
hypothesized that a more masculinized development in women
and a more feminized development in men might
contribute to the co-occurrence of ASD and GD. An MRI study in
the brain might support this notion as it showed attenuated
normative gender differences in white matter tracts in ASD
(Beacher et al. 2011)
. The same lack of expected white
matter gender differences might be present in children
with GD, suggesting that the sex dimorphic development
of the brains in both conditions is diminished, but this is
currently speculative. In conclusion, we found no gender
differences in our study on the total CSBQ, both boys and
girls with GD scored higher than TD boys and we found
mixed interaction effects which were not all consistent
with the EMB theory.
Findings of the study have made us consider that the
developmental pathway of co-occurring GD and ASD
(symptoms) is different in boys and girls. The different
interaction effects on different subdomains of ASD for assigned
gender at birth might support this idea. Specifically, in our
study, within the GD group, only on the stereotyped (and
orientation subscale; but the effect size was negligible), a
gender difference such that boys with GD scored
substantially higher than girls with GD (gender differences also
substantial in comparison to normative gender differences in TD
children and adolescents) was found. Possibly, this reflects a
different underlying etiologic contributory factor for GD and
ASD in boys and girls related to over-responsivity to
stimuli. A study in adults with ASD reporting on sensory
overresponsivity to stimuli showed differences from TD adults
for each sensory domain
(proprioception, vision, hearing,
smell, taste and touch; Tavassoli et al. 2014)
interests of boys with ASD and GD are often of a feminine origin
(e.g., glitter and soft clothing) and might be correlated with
a need for specific sensory input or processing
(Tateno et al.
. As sensory processing is suggested as a key feature in
(Ben-Sasson et al. 2007)
a shared contributory factor
for boys with both GD and ASD might be a
neurodevelopmental over or under-responsivity to sensory stimuli. Future
studies should therefore investigate (problems with) sensory
processing in individuals with GD.
Next to (symptoms of ASD) leading to GD, the converse
has been suggested as well. Skagerberg et al. (2015)
hypothesized for example that in a sample of children and
adolescents with GD the increased rate of autistic symptoms might
have stemmed from the GD itself by GD causing social
difficulties as people with GD can be subject to high levels
of bullying and stigma
(Holt et al. 2014)
. However, while
this hypothesis could perhaps explain the reported increased
social problems, it does not explain the elevations on the
remaining subdomains of the ASD spectrum. It should
additionally be stressed that the social problems assesed with
the CSBQ are not the more general and common social
problems that occur in many psychiatric conditions; they
are rather specific for ASD (e.g., “doesn’t understand jokes”;
“frequently says things that are not relevant to the
conversation”; “barely knows the difference between strangers and
familiar people, for example, readily goes with strangers”).
Additionally, as suggested by
VanderLaan et al. (2015
there might be shared underlying mechanisms involved.
For example, high birthweight may be a marker of shared
mechanisms underlying both GD and ASD.
The limitations of the current study are fourfold. First,
although our focus was specifically on symptom levels and
not on an ASD diagnosis, we need to emphasize that the
CSBQ (or any other questionnaire) does not provide an ASD
diagnosis. The CSBQ is used for charting the
heterogeneous problem profile that characterizes ASD but cannot be
used for a formal diagnostic classification of ASD which
requires extensive interviewing and observation
et al. 2006)
. In this light, the 14.5% prevalence rate
estimate based on the rough threshold level indicating a
possible ASD diagnosis (but not with false positives filtered
out as yet) is likely to be too high; see in particular the
study which reported an ASD diagnosis of 7.8%, as based
on diagnostic interviews
(de Vries et al. 2010)
nonetheless applied this cut-off in keeping with prior studies,
which also provided a rough estimate
(Jones et al. 2012;
Pasterski et al. 2014)
and with the aim to emphasize the
heterogeneity within GD with regard to the presence of ASD
symptomatology. Second, although children and adolescents
with GD show an increased amount of autistic symptoms
compared to TD peers, no conclusion with regard to causal
or time-related pathways can be drawn because the study
was cross-sectional. The aforementioned discussion should
thus be interpreted as an exploration of possible pathways
that are currently highly speculative in light of our own
findings, as well as the broader literature. Third, the use of a
clinical comparison group other than focused on ASD could
have improved the study design. For example, it is possible
that not only elevated ASD levels but also elevated ADHD
levels occur in GD samples (Strang et al. 2014). In
addition, as increased symptom levels of ASD are also found in
some other clinical populations such as in individuals with
(Pine et al. 2008)
, future studies should therefore
include other referred control groups. In line with adding
another clinical control group, it should be mentioned that
even though the CSBQ is a well validated instrument
Bildt et al. 2009; Hartman et al. 2006, 2015)
, there is some
discussion on whether screening-instruments for ASD in
general are specific enough when applied to other clinical
(Havdahl et al. 2016)
and therefore might
overrate the ASD prevalence. Another limitation is that the data
of the normative sample were collected around 10 years
earlier than those from the participants with GD. However,
participants with GD who had been collected earlier differed not
significantly with respect to their CSBQ scores compared to
those who have been referred later. This finding assured that
the recent increase in reported prevalence rates of ASD was
not present in our sample with GD when using the CSBQ.
Despite these limitations, the presence of the large sample
of individuals with GD, the ASD scores of whom could be
firmly anchored relative to the score profile of TD children
and adolescents as well as of children and adolescents
diagnosed with ASD, are important assets of this study. There
is now more evidence for an increase in symptoms of ASD
in samples with GD that calls for further study into
possible involved etiological factors. Second, the present study
was able to differentiate between multiple domains of ASD,
showing that elevated ASD symptoms in children and
adolescents with GD are not restricted to one subdomain, as
has been previously suggested
(e.g. de Vries et al. 2010;
Williams et al. 1996)
. A third important asset of our study
is that the ASD scores of boys and girls in the TD and ASD
norm groups could be used to interpret gender differences
in GD. For example, on the social and change subscales, we
showed that although both boys and girls with GD had much
milder problems than boys and girls with ASD, there was
an absence of gender differences in individuals with GD as
observed in individuals with ASD, where this gender
difference is normative in TD children.
Finally, focusing on relevant future research steps as well
as the broader clinical implications, additional research is
needed to provide guidelines for clinical management of
individuals with GD and (symptoms of) ASD. In most cases,
the diagnostic procedure is complex as it is often difficult
to a priori distinguish between GD as a separate condition
and a pre-occupation applying to ASD
Strang et al. (2016) provided a first clinical guideline for
adolescents with GD and ASD based on expert opinions.
However, in terms of treatment, it is unknown whether the
effective medical gender reassignment treatment for GD in
(de Vries et al. 2014)
is suitable for
individuals with co-occurring ASD. As long as such
evidence and specific clinical management protocols are not
available, diagnosis and treatment of co-occurring GD and
ASD will remain highly demanding. It might be helpful, as
van Schalkwyk et al. (2015
) to be attentive
to the development of gender in children with ASD from
an early age as there is evidence that children with ASD
develop a gender identity
but it is unkown
if their gender development might follow a different pattern
or timeline. For example, the hypothesis, as suggested by
van Schalkwyk et al. (2015
), that gender related concerns
might represent a potential developmental process in which
individuals with ASD are delayed in their gender identity
development compared to typically developing
individuals, emphasizes the further need for longitudinal research
in individuals with ASD and (symptoms of) GD. Clinically,
caregivers should provide help exploring the gender
narrative of individuals with ASD
(Strang et al. 2016)
In conclusion, we demonstrated more autistic
symptoms in children and adolescents with GD compared to TD
children and adolescents. However, we found less
autistic symptoms compared to children and adolescents with
ASD, illustrating the heterogeneity among GD in relation
to the presence of ASD symptoms. All subdomains of the
spectrum of ASD were increased; the possible association
between ASD and GD can thus not be attributed to one
subdomain of the spectrum, such as rigidity or intense
interests. Our study found no significant differences in CSBQ
total score between boys and girls with GD, and diverging
gender differences on the subdomains of ASD, which are
not all consistent with the EMB theory. It is essential that
healthcare workers actively look out not only for rigidity and
obsessions, but take account of the complete spectrum of
ASD symptoms whenever assessing and treating
individuals with GD.
Author Contributions AM conceived of the study, participated in its
design and coordination, performed the statistical analyses,
interpretation of the data and drafted the manuscript. AV conceived of the
study, participated in its design and coordination, interpretation of the
data and helped to draft the manuscript. TS participated in the design
and coordination of the study and helped to draft the manuscript. CH
participated in the design of the study, performed the statistical
analyses, interpretation of the data and helped to draft the manuscript. All
authors read and approved the final manuscript.
Compliance with Ethical Standards
Conflict of interest The authors declare that they have no conflict of
Ethical Approval All procedures performed in studies involving human
participants were in accordance with the ethical standards of the
institutional and/or national research committee and with the 1964 Helsinki
declaration and its later amendments or comparable ethical standards.
This article does not contain any studies with animals performed by
any of the authors. Informed consent was obtained from all individual
participants included in the study.
Open Access This article is distributed under the terms of the Creative
Commons Attribution 4.0 International License
(http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use,
distribution, and reproduction in any medium, provided you give appropriate
credit to the original author(s) and the source, provide a link to the
Creative Commons license, and indicate if changes were made.
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