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Traits of autism spectrum disorder in school-aged children with gender dysphoria: A comparison to clinical controls

Authors:

Abstract

Objective: Studies of children with gender dysphoria (GD) have reported an overrepresentation of autism spectrum disorder (ASD) or traits. One limitation of these studies has been the absence of a concurrent comparison group of children referred for other clinical problems. The present study addressed this gap by comparing 61 children referred for GD with 40 children referred for other clinical concerns (age range, 4-12 years). Method: ASD caseness was measured in 2 ways: (a) a Diagnostic and Statistical Manual of Mental Disorders (DSM) diagnosis of ASD or cut-off scores for caseness or (b) dimensionally on 2 standardized measures. Results: Children with GD had a higher proportion with a co-occurring DSM diagnosis of ASD and a higher proportion who met the criterion for caseness on the Social Communications Questionnaire than the clinical controls. In contrast, on the Social Responsiveness Scale, the 2 groups were similar with regard to caseness and traits of ASD. Conclusions: The results of our study showed evidence of both specificity and nonspecificity with regard to ASD traits and caseness. Future research can adopt the principle of multifinality to understand better why only a minority of children with GD have a co-occurring diagnosis of ASD, but the majority does not.
Clinical Practice in Pediatric
Psychology
Traits of Autism Spectrum Disorder in School-Aged
Children With Gender Dysphoria: A Comparison to
Clinical Controls
Jonathan H. Leef, Jessica Brian, Doug P. VanderLaan, Hayley Wood, Katreena Scott, Meng-Chuan
Lai, Susan J. Bradley, and Kenneth J. Zucker
Online First Publication, September 2, 2019. http://dx.doi.org/10.1037/cpp0000303
CITATION
Leef, J. H., Brian, J., VanderLaan, D. P., Wood, H., Scott, K., Lai, M.-C., Bradley, S. J., & Zucker, K. J.
(2019, September 2). Traits of Autism Spectrum Disorder in School-Aged Children With Gender
Dysphoria: A Comparison to Clinical Controls. Clinical Practice in Pediatric Psychology. Advance
online publication. http://dx.doi.org/10.1037/cpp0000303
Traits of Autism Spectrum Disorder in School-Aged Children With
Gender Dysphoria: A Comparison to Clinical Controls
Jonathan H. Leef
The Ontario Institute for Studies in Education of
the University of Toronto
Jessica Brian
Bloorview Research Institute, Holland Bloorview
Kids Rehabilitation Hospital, and
University of Toronto
Doug P. VanderLaan
University of Toronto Mississauga and Centre for
Addiction and Mental Health, Toronto,
Ontario, Canada
Hayley Wood
Toronto District School Board, Toronto, Ontario,
Canada
Katreena Scott
The Ontario Institute for Studies in Education of
the University of Toronto
Meng-Chuan Lai
Centre for Addiction and Mental Health, Toronto,
Ontario, Canada, and University of Toronto
Susan J. Bradley and Kenneth J. Zucker
University of Toronto
Objective: Studies of children with gender dysphoria (GD) have reported an overrep-
resentation of autism spectrum disorder (ASD) or traits. One limitation of these studies
has been the absence of a concurrent comparison group of children referred for
other clinical problems. The present study addressed this gap by comparing 61
children referred for GD with 40 children referred for other clinical concerns (age
range, 4 –12 years). Method: ASD caseness was measured in 2 ways: (a) a
Diagnostic and Statistical Manual of Mental Disorders (DSM) diagnosis of ASD or
cut-off scores for caseness or (b) dimensionally on 2 standardized measures.
Results: Children with GD had a higher proportion with a co-occurring DSM
diagnosis of ASD and a higher proportion who met the criterion for caseness on the
Social Communications Questionnaire than the clinical controls. In contrast, on the
Social Responsiveness Scale, the 2 groups were similar with regard to caseness and
Jonathan H. Leef, Department of Applied Psychology
and Human Development, The Ontario Institute for Studies
in Education of the University of Toronto; Jessica Brian,
Autism Research Centre, Bloorview Research Institute,
Holland Bloorview Kids Rehabilitation Hospital, Toronto,
Ontario, Canada, and Department of Pediatrics, University
of Toronto; Doug P. VanderLaan, Department of Psychol-
ogy, University of Toronto Mississauga, and Child and
Youth Psychiatry, Centre for Addiction and Mental Health,
Toronto, Ontario, Canada; Hayley Wood, Department of
Psychology, Toronto District School Board, Toronto, On-
tario, Canada; Katreena Scott, Department of Applied Psy-
chology and Human Development, The Ontario Institute
for Studies in Education of the University of Toronto;
Meng-Chuan Lai, Centre for Addiction and Mental Health,
Toronto, Ontario, Canada, and Department of Psychiatry,
University of Toronto; Susan J. Bradley and Kenneth J.
Zucker, Department of Psychiatry, University of Toronto.
Elements of this article were presented at the meeting of
the International Academy of Sex Research, Toronto, On-
tario, July 2015.
Correspondence concerning this article should be ad-
dressed to Kenneth J. Zucker, Department of Psychiatry,
University of Toronto, Toronto, ON M5T 1R8, Canada.
E-mail: ken.zucker@utoronto.ca
This document is copyrighted by the American Psychological Association or one of its allied publishers.
This article is intended solely for the personal use of the individual user and is not to be disseminated broadly.
Clinical Practice in
Pediatric Psychology
© 2019 American Psychological Association 2019, Vol. 1, No. 999, 000
ISSN: 2169-4826 http://dx.doi.org/10.1037/cpp0000303
1
traits of ASD. Conclusions: The results of our study showed evidence of both
specificity and nonspecificity with regard to ASD traits and caseness. Future
research can adopt the principle of multifinality to understand better why only a
minority of children with GD have a co-occurring diagnosis of ASD, but the
majority does not.
Implications for Impact Statement
The present study draws specific attention to the overrepresentation of autism
spectrum disorder traits among children referred for gender dysphoria. Children
with gender dysphoria should be screened for a possible autism spectrum disorder
(ASD) and, when warranted, receive a more comprehensive ASD diagnostic as-
sessment to facilitate more holistic clinical care.
Keywords: gender dysphoria, autism spectrum disorder, Social Responsiveness Scale,
Social Communication Questionnaire, multifinality
Supplemental materials: http://dx.doi.org/10.1037/cpp0000303.supp
In recent years, the study of the possible
co-occurrence of gender dysphoria (GD) and
autism spectrum disorder (ASD) in children has
attracted a great deal of clinical interest and
research attention. ASD is a neurodevelopmen-
tal condition characterized by deficits in social
communication accompanied by restricted, re-
petitive interests, and/or behaviors (American
Psychiatric Association [APA], 2013).
1
As
noted by de Vries, Noens, Cohen-Kettenis, van
Berckelaer-Onnes, and Doreleijers (2010), sev-
eral case reports (updated in van der Miesen,
Hurley, & de Vries, 2016) described children
who had both ASD and gender identity dis-
order (GID; or at least traits suggestive of
GID).
2,3
In two ways, empirical research has
attempted to evaluate more systematically the
co-occurrence of ASD/ASD traits in children
referred clinically for GD: (a) For ASD case-
ness, measurement approaches have used
structured diagnostic interview schedules, in-
formation obtained in the course of a clinical
diagnostic assessment, or the use of cut-off
scores from dimensional questionnaires. (b)
For ASD traits, mean scores on standardized
questionnaires are used and compared with
normative data.
Caseness
de Vries et al. (2010) conducted the only
study that utilized a semistructured diagnostic
interview schedule. It began with a sample of
108 Dutch children (Mage, 8.06 years). Based
on initial clinical impression, 11 children
(10.1%) were “suspected” of having ASD. Sub-
sequently, the mothers of these 11 children were
administered the Dutch version of the Diagnos-
tic Interview for Social and Communication
Disorders (DISCO-10; Wing, 1999). Of these
11 children, 7 (6.4% of the total sample) met the
DISCO-10 criteria for ASD (i.e., Diagnostic
and Statistical Manual of Mental Disorders-
Fourth Edition [DSM–IV] and International Clas-
sification of Diseases-10th Revision [ICD-10]
Pervasive Developmental Disorders [PDD]).
4
1
In this article, we use the noun “children” to mean those
who are 12 years of age or younger.
2
We have elected to use the diagnostic term gender
identity disorder when referring to studies that used the
DSM–III and DSM–IV and gender dysphoria when referring
to studies using the DSM–5. In the studies reviewed, the
diagnosis of gender identity disorder/gender dysphoria was
based on clinical assessment data, using the DSM–III,
DSM–III–R,DSM–IV,DSM–5, or ICD-9.
3
Three studies that had mixed samples of children and
adolescents can be found in the online supplemental material.
4
Of interest to the authors, de Vries et al. reported that only
one of the children who met the criteria for ASD had been
given a DSM–IV–TR diagnosis of GID (1.9% of the total
sample who met the criteria for GID, total N52) whereas the
remaining six children had a diagnosis of Gender Identity
Disorder Not Otherwise Specified (GIDNOS; 13.3% of the
total sample who met the criteria for GIDNOS, total N45).
de Vries et al. concluded that, collapsing across these two
diagnostic categories, the 6.4% ASD co-occurrence was higher
than the base rate of ASD in the general population.
2 LEEF ET AL.
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Two studies used clinical diagnostic informa-
tion obtained in the course of an assessment. In
the United Kingdom, Holt, Skagerberg, and
Dunsford (2016) reported that, of 41 children
(age range, 5–11 years), 7 (17.1%) were judged
to have ASD (or a query thereof). Becerra-
Culqui et al. (2018; M. Goodman, personal
communication, December 10, 2018) used elec-
tronic medical record data from three U.S. Kai-
ser-Permanente health care system sites to iden-
tify children (age range, 3–12 years) who had
received an ICD-9 diagnosis equivalent to GID/
GD. Of 230 birth-assigned boys, 14 (6.1%) had
an ASD diagnosis but none of the 148 birth-
assigned girls had an ASD diagnosis. For the
birth-assigned boys, prevalence ratios showed
that this percentage was higher than matched
reference groups of boys and girls seen for any
other reason. A third study relied on a standard-
ized questionnaire to estimate ASD caseness.
van der Miesen, de Vries, Steensma, and Hart-
man (2018; A. I. R. van der Miesen, personal
communication, December 30, 2018 and Janu-
ary 1, 2019) used the Children’s Social Behav-
ior Questionnaire (CSBQ) and found that, for
309 children (age range, 6 –12 years), 13.9%
were classified as “suggestive” for caseness
compared with 4.6% of 1,707 nonreferred con-
trols. For children referred for ASD (total N
134), the percentage who met the criterion for
caseness was 61.9%.
3
ASD Traits
Unfortunately, studies that have assessed for
traits of ASD using standardized questionnaires
have utilized mixed samples of children and
adolescents, which are summarized in online
supplemental material.
3
Two Canadian studies
from one clinic used child samples only.
VanderLaan et al. (2015) and Zucker et al.
(2017) examined two items on the Child Behav-
ior Checklist (CBCL) or Teacher’s Report Form
(TRF; Achenbach & Rescorla, 2001) that they
conceptualized as related to circumscribed pre-
occupations or intense interests: Item 9 (“Can’t
get his/her mind off certain thoughts; obses-
sions”) and Item 66 (“Repeats certain acts over
and over; compulsions”). On both the CBCL
(n524) and the TRF (n386), Item 9 was
endorsed more frequently by mothers or teach-
ers of children referred for GD compared with
same-sex siblings (included only in the CBCL
sample) and the referred and nonreferred chil-
dren from the CBCL/TRF standardization sam-
ples and, for Item 66, more frequently when
compared with siblings and nonreferred chil-
dren, but not referred children.
Methodological and Interpretive
Limitations
In appraising these studies, several method-
ological and interpretive limitations should be
considered. In de Vries et al. (2010), it could be
argued that the presence of an ASD diagnosis was
underestimated because the formal DISCO-10
was administered only for those children for
whom the clinician suspected a co-occurring
ASD. The data for mixed samples of children and
adolescents are potentially problematic because
estimates of caseness should take into account the
well-known finding that milder cases of ASD
might not be diagnosed until later in development
(APA, 2013), particularly in females (Mandy &
Lai, 2017).
With the exception of VanderLaan et al.
(2015), Zucker et al. (2017), and Becerra-
Culqui et al. (2018), an important limitation of
these studies was the absence of a comparison
group of children referred for other clinical
problems. Regarding Becerra-Culqui et al., the
comparison group consisted of children referred
either for mental health or physical health rea-
sons. Thus, it is unclear whether the apparent
elevation in an ASD diagnosis or traits is spe-
cific to children referred for GD as opposed to
being characteristic of clinical populations in
general (see, e.g., Pine, Guyer, Goldwin, Tow-
bin, & Leibenluft, 2008). Thus, a central aim of
the present study was to address this method-
ological limitation by comparing the presence
of an ASD diagnosis and ASD traits in school-
age children referred for GD with a clinical
control group as well as a comparative analysis
of ASD traits in general population samples and
among children referred for ASD. Accordingly,
we consider the specificity question (Garber &
Hollon, 1991) for the first time with regard to
children referred for GD using well-validated
standardized questionnaires. If the evidence fa-
vors nonspecificity, it would call for a more
nuanced theoretical model for understanding
the putative link between ASD and GD.
3GENDER DYSPHORIA AND AUTISM SPECTRUM DISORDER
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Method
Participants
There were two groups of children: clinic-
referred for GD and a clinical comparison (CC)
group referred for other reasons. The GD group
consisted of 61 patients (45 birth-assigned boys;
16 birth-assigned girls; M7.97 years;
range 4.08 –12.95) seen for an assessment
between 2009 and 2015 at the Gender Identity
Service within the Child, Youth, and Family
Program at the Centre for Addiction and Mental
Health (CAMH) in Toronto, Canada. Of these
61 patients, 48 participated upon entry into the
clinical service; the remaining 13 participated at
the time of a follow-up assessment (Minter-
val 3.22 years; SD 1.5; range
1.00 –5.80). Twelve additional children were
not included in the present study because they
were under 4 years of age (n5) and, there-
fore, outside the age range for the ASD mea-
sures used, the family chose not to complete the
clinical assessment (n6), or the parent did
not have sufficient English proficiency to an-
swer the relevant questionnaires (n1). Based
on clinical assessment, the patients in the GD
group met either the DSM–IV–TR (n44) or
DSM–5 (n17) criteria for GID/GD (93.4%)
or GIDNOS (6.6%). Three of the children had a
co-occurring disorder of sex development
(DSD). Before the time of the baseline assess-
ment, 9 (14.8%) children had socially transi-
tioned from their birth-assigned gender to their
experienced gender. At the time of the assess-
ment, no children with GD were receiving hor-
monal treatment to suppress their pubertal de-
velopment.
5
The CC group consisted of 40 patients (28
boys; 12 girls; M9.48 years; range
6.49 –12.93) recruited between January 2014
and December 2015. Patients in the CC group
were eligible to participate if they were assessed
at the CAMH for primary referral concerns
other than GD or ASD (e.g., mood/anxiety;
behavior problems) within 6 months or less
before recruitment. One CC child had a co-
occurring DSD. We aimed to match CC partic-
ipants to the children in the GD group by age
and birth-assigned sex, but were not entirely
able to do so, given the age ranges seen in the
other services, which typically did not see chil-
dren younger than 6 years of age. After poten-
tial participants were identified from a service-
wide database, the attending clinician asked the
family for permission to contact them. Of 107
eligible participants, permission to contact the
family was given for 65 (60.1%) families. Of
these, 46 families (70.1%) agreed to participate,
of which 40 (86.9%) completed the study; the
remaining six families did not complete the
study for various reasons (e.g., “too busy,” etc.).
Parents from the CC group completed the mea-
sures on site or at home and were paid $20 for
their participation. For both groups, the parent-
completed measures were predominantly the
mothers. In the few instances in which by the
mother was not available, we used information
from the father (n2) or a grandmother (n1).
Measures and Procedure
The study protocol was approved by the
CAMH Research Ethics Board (Protocol No.
228 –2012 and 089–2013) and the University of
Toronto (Protocol No. 00036384). For the GD
group, data for this study were collected as part
of a clinical chart review; hence, ethical ap-
proval was obtained for this anonymized chart
review without the need to obtain informed
consent from parents. For the CC group, a par-
ent (or, in one instance, a grandparent) read and
signed a consent form.
DSM diagnosis of ASD. For each partici-
pant, the presence of an ASD diagnosis (PDD in
DSM–IV–TR or ASD in DSM–5) was recorded
from the patient’s clinical file. The diagnosis
was based on clinical interview information ob-
tained in the course of an assessment, made by
either a child psychiatrist or a child psycholo-
gist. In the GD group, this diagnosis may have
been given by another mental health profes-
sional before the assessment or it may have
been given by an attending clinician in the Gen-
der Identity Service. In the CC group, this di-
agnosis may have been given by the attending
clinician after the child was seen for an assess-
ment (even though the child had not been re-
ferred for a concern about ASD).
Social Responsiveness Scale. The SRS
(Constantino & Gruber, 2005) for children 4 –18
years of age is a 65-item parent-report question-
5
More information about the clinic to which the children
were referred can be found in the online supplemental
material.
4 LEEF ET AL.
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naire designed to screen for ASD traits. Each
item was rated on a 4-point scale ranging from
0(not true)to3(always true) and summed to a
total severity Tscore (SRS Total) and as well as
five subscales: Social Awareness, Social Cog-
nition, Social Communication, Social Motiva-
tion, and Autistic Mannerisms. The SRS has
excellent sensitivity and specificity rates when
comparing children with an ASD to unaffected
children (Constantino & Gruber, 2005, 2012).
The SRS has been widely used, with a number
of studies providing evidence of its discriminant
and convergent validity (e.g., Bölte, Poustka, &
Constantino, 2008; Duvekot, van der Ende,
Verhulst, & Greaves-Lord, 2015). However,
there is ongoing debate regarding reduced spec-
ificity rates when using non-ASD clinical com-
parison groups (Kaat & Farmer, 2017; Moul,
Cauchi, Hawes, Brennan, & Dadds, 2015). SRS
Tscores 60 are considered to be in the clinical
range (Constantino & Gruber, 2005). The SRS
was scored using norms for birth-assigned sex.
Social Communication Questionnaire. The
Social Communication Questionnaire (SCQ; Rut-
ter, Baily, & Lord, 2003) is a parent-completed
rating scale of behaviors and symptoms associ-
ated with ASD, with good sensitivity (.71) and
specificity (.71) in distinguishing between ASD
versus nonspectrum diagnoses. It consists of 40
items, scored as present or absent, drawn from
the Autism Diagnostic Interview-Revised
(ADI-R; Rutter, Le Couteur, & Lord, 2003),
which is one of the gold-standard diagnostic
measures used in research and clinical settings.
We used the Lifetime version of the SCQ,
which spans the child’s entire developmental
history, with a subset of items focusing on a
critical age range (4 –5 years). Rutter, Bailey,
et al. (2003) suggested that the Lifetime ver-
sion is most useful for screening and diagno-
sis. In the current study, data for the SCQ
were available for 46 children in the GD
group (birth-assigned boys, n33; birth-
assigned girls, n13), and for 39 children in
the CC group (boys, n27; girls, n12).
While a clinical cut-off score of 15 is recom-
mended by the SCQ developers, the current
study used Corsello et al.’s (2007) cut-off
of 12, which has been shown to have higher
sensitivity (.82) in distinguishing ASD versus
nonspectrum diagnoses (although it reduces
specificity to .56). It has been noted that some
have argued that a cut-off score of 12 might
even be conservative, particularly for birth-
assigned females with ASD (Schanding,
Nowell, & Goin-Kochel, 2012).
Child Behavior Checklist. The CBCL was
used to assess psychiatric vulnerabilities in gen-
eral that might impact parental ratings of social
communication skills. The CBCL has a three-
factor structure (Internalizing, Externalizing,
Mixed). Of the 118 items, each was rated on a
0 –2 point scale for frequency of occurrence,
where 0 not true and 2 very true or often
true. The CBCL was scored using norms for
birth-assigned sex.
Symptom Checklist-90-Revised. The Symp-
tom Checklist-90-Revised (SCL-90 –R; Deroga-
tis, 1994) is a self-report symptom inventory for
adults. The SCL-90 –R contains 90 items de-
signed to screen for psychiatric symptoms
across nine domains (e.g., Depression, Anxi-
ety). Each item was rated on a 5-point scale
indicating how much the respondent was dis-
tressed by the problem over the past 7 days,
from 0 (not at all)to4(extremely). Given that
there is a relationship between parental SCL-
90 –R symptoms and ratings of their child on
the SRS (e.g., Bennett et al., 2012), we used this
measure as a potential control variable in the
case that there were between-groups difference.
For this study, we analyzed the Global Severity
Index (GSI), which is the best single metric of
symptomatology (combining the number of
symptoms endorsed and their intensity).
6
Analytic Plan
Preliminary analyses examined between-
groups differences on the demographic vari-
ables across the two groups. We then tested
for between-groups differences on the CBCL,
and on the three metrics pertaining to ASD.
Both nonparametric and parametric statistics
were used as appropriate. Effect size analyses
utilized p
2or Cohen’s d.
Results
Sample Characteristics
Online supplemental material Table 2 shows
the demographic data for the GD and CC
6
A parent-completed dimensional measure to assess gen-
der nonconformity can be found in the online supplemental
material (Table 1).
5GENDER DYSPHORIA AND AUTISM SPECTRUM DISORDER
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groups. There were no significant between-
groups differences with regard to the sex ratio,
ethnicity, parents’ marital status, or adoption
status. For age, a 2 (Sex) 2 (Group) analysis
of variance (ANOVA) revealed a significant
main effect of Group, with the GD group
younger than the CC group. For social class, a 2
(Sex) 2 (Group) ANOVA revealed a signif-
icant main effect of Sex, with parents of birth-
assigned girls reporting lower social class than
the parents of birth-assigned boys. For the SCL-
90 –R GSI, a 2 (Sex) 2 (Group) ANOVA
revealed a significant main effect of Sex, with
parents of birth-assigned girls reporting a higher
GSI than the parents of birth-assigned boys.
7
Child Behavior Checklist
CBCL Tscores were analyzed using a series
of 2 (Sex) 2 (Group) ANCOVAs, with age
covaried. As shown in online supplemental ma-
terial Table 3, there was no significant main
effect for Group on any of the CBCL variables.
The supplement also describes other CBCL
findings.
ASD: Caseness
Table 1 shows the percentage of children in
each group who had a DSM ASD diagnosis,
as well as clinical range scores on the SRS
(mild, moderate, or severe) and the SCQ total
score. For the GD group, 21.3% (12 birth-
assigned boys and 1 birth-assigned girl) had a
clinical diagnosis of ASD. In nine patients,
the diagnosis was made for the first time in
the course of the assessment for gender dys-
phoria; in the four other patients, the diagno-
sis had been made by another clinician, before
the referral for gender dysphoria. None of the
patients in the CC group had an ASD diag-
nosis (p.004). On the SCQ, the findings
were similar: for the GD group, 21.7% (all
birth-assigned boys) had a clinical range
score compared with one (2.5%) in the CC
group (p.021). In contrast, on the SRS, no
significant differences were found between
the proportion of patients in each group who
scored in the clinical range (i.e., 60) for the
Total score (mild, moderate, or severe) or on
any of the five subscales (data not shown; see
Leef, 2018, Table 10).
ASD: Traits
As shown in Table 2, a 2 (Sex) 2 (Group)
ANCOVA for the SRS Total Tscore (with
age covaried) revealed a significant main ef-
fect for Sex. Birth-assigned girls had, on av-
erage, a significantly higher score (M69.
34, SD 14.59) than birth-assigned boys
(M56.94, SD 11.87). A series of 2
(Sex) 2 (Group) ANCOVAs, controlling
for age, were also conducted for the five SRS
subdomains. For each subdomain, a main ef-
fect of Sex was also found. On average, the
birth-assigned girls had a significantly higher
score than the birth-assigned boys. For the
Social Cognition subdomain, there was also a
Sex Group interaction (see Table 2). Ef-
fects remained when social class and SCL-
90 –R GSI were also covaried (data not shown;
see Leef, 2018, Table 11).
Table 2 also shows that a 2 (Sex) 2
(Group) ANCOVA, controlling for age, re-
vealed a significant main effect of group for the
SCQ Total score, with the GD group scoring
significantly higher than the CC group. Because
of the significant sex difference found for social
class and SCL-90 –R GSI (online supplemental
material Table 2), these ANCOVAs were re-
peated with social class and SCL-90 –R GSI
also covaried. The main effect for Group re-
mained significant, F(1, 75) 5.18, p.026,
p
2.06, and there was also a main effect for
Sex, F(1, 75) 5.86, p.018, which indicated
that the birth-assigned boys, on average, had a
higher SCQ Total score than the birth-assigned
girls (M6.54 vs. 4.72).
8
Online supplemental material Figures 1 and 2
depict how raw scores obtained in the present
study on the SRS and SCQ compared with
published scores for nonreferred and ASD sam-
ples (Bölte et al., 2008; Mulligan, Richardson,
Anney, & Gill, 2009; Rutter, Bailey, et al.,
2003). For the SRS, it can be seen that both the
GD group and the CC group had, on average,
scores that fell in between nonreferred children
and children referred for an ASD assessment. A
7
Additional information on sample characteristics is de-
scribed in the online supplemental material.
8
These results were not altered when age and social class
were co-varied (data available from the corresponding au-
thor upon request).
6 LEEF ET AL.
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similar pattern was found for the SCQ, but the
pattern was less pronounced.
Caseness and ASD Traits
For the GD group only, we analyzed the SRS
and SCQ measures as a function of whether
there was a clinical diagnosis of ASD. Because
there was only 1 birth-assigned girl with GD
with a diagnosis of ASD, we did not include sex
as a between-subjects factor. The two sub-
groups (positive or negative for ASD) did not
differ significantly with regard to age at assess-
ment, IQ, and parent’s social class and marital
status. As shown in Table 3, children with a
clinical diagnosis of ASD had, on average,
higher scores than those who did not on the SRS
Total score and on all five subscales: three were
statistically significant. Children with a clinical
diagnosis of ASD also had a significantly higher
score than those who did not on the SCQ (Co-
hen’s dranged from 0.33 to 1.13).
9,10
Correlational Analyses
For both the GD and CC groups, the SRS
Total Tscore and the SCQ Total score were
significantly correlated (r.40 and .44, re-
spectively). For both groups, the SRS Total T
score was significantly correlated with all
three CBCL metrics (rs ranged from .43–.70);
however, the correlations between the SCQ
Total scores and the three CBCL metrics were
less strongly related (rs ranged from .14 –.42).
For both the GD group and CC group, the
SCL-90 –R GSI was positively correlated
with the SRS Total Tscore, the SCQ Total
Score, and the three CBCL metrics (rs ranged
from .09 –.49), of which four were statisti-
cally significant.
11
Discussion
The primary aim of our study was to compare
the occurrence of ASD caseness and the degree/
number of ASD traits between children referred
for GD and children referred for other clinical
concerns. Depending on the metric analyzed,
we found evidence for both specificity and non-
specificity with regard to ASD caseness or
traits. Specificity was found for three metrics:
the percentage of children referred for GD with
a co-occurring clinical diagnosis of ASD was
significantly higher than in the CC group (21.3
vs. 0.0%) and the same was found for the per-
centage with a clinical range score on the SCQ
9
We removed the 13 GD children with a co-occurring
ASD diagnosis and re-ran our primary analyses on the SRS
(for the total score and the five subscales) and the SCQ. On
the SRS, the results were quite similar to the data reported
in Table 2. On the SCQ, which is the more conservative
metric, the between-groups difference remained significant
(data available from the corresponding author upon re-
quest).
10
Social transition status (yes or no) was not significantly
correlated with parent-report on the three CBCL measures,
the six SRS dimensional measures, and the SCQ total score,
with age at assessment partialled out.
11
The correlation matrix for these data is in the online
supplemental material (Table 4).
Table 1
Clinical ASD Diagnosis and Clinical Cut-Off Scores on the Social
Responsiveness Scale and the Social Communication Questionnaire as a
Function of Group
Group
GD CC
Variable (N 61) (N40)
2
(1) p
ASD diagnosis 13 (21.3%) 0 (0.0%) 7.98 .004 .311
SRS clinical range total Tscore
Mild (T60–65) 30 (49.2%) 21 (52.5%) 1ns—
Moderate (T66–75) 23 (37.7%) 14 (35.0%) 1ns—
Severe (T76) 8 (13.1%) 6 (15.0%) 1ns—
SCQ clinical cut-off
a
10 (21.7%) 1 (3.3%) 5.29 .021 .26
Note.GDgender dysphoria; ASD autism spectrum disorder; SCQ Social Commu-
nications Questionnaire; CC clinical comparison; SRS Social Responsiveness Scale.
a
SCQ available for 46 GD children and 39 clinical controls.
7GENDER DYSPHORIA AND AUTISM SPECTRUM DISORDER
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(21.7 vs. 3.3%). In addition, on the SCQ, the
children with GD had, on average, a higher total
score than the CC group. In contrast, on the
SRS, the two groups did not differ significantly
with regard to the percentage that had clinical
range scores or on the dimensional scores.
When we compared the SRS and SCQ dimen-
sional ratings with that of two referent groups (a
normative sample and a sample of children with
a diagnosis of an ASD), it was clear that both
the children referred for GD and the CC group
had intermediate scores (online supplemental
material Figures 1 and 2).
The results of our study were consistent with
the prior empirical literature pointing to an
overrepresentation of ASD caseness and ASD
traits among children referred for GD. For ex-
ample, our percentage of clinician-diagnosed
ASD (21.3%) was similar to the clinical file
data pertaining to ASD reported by Holt et al.
(2016) (17.1%) and the percentage who met the
criterion for caseness on the SCQ (21.7%) was
similar to the percentage reported by Shumer,
Reisner, Edwards-Leeper, and Tishelman
(2016) using the Asperger Syndrome Diagnos-
tic Scale (23.1%). On the SRS, the percentage
of children in the clinical range (49.2%) was
similar to the findings of Skagerberg, Di Ceglie,
and Carmichael (2015) and Akgül, Ayaz,
Yildirim, and Fis (2018): 54.2 and 68.0%, re-
spectively. The SRS dimensional data for ASD
traits were very clear in demonstrating non-
specificity, which is consistent with data show-
ing that children referred for GD have, on av-
erage, a wide range of behavioral and emotional
problems similar to children referred for other
clinical problems (Zucker, Wood, & Vander-
Laan, 2014). That the CC group also had rela-
tively high levels of SRS traits was also consis-
tent with prior studies (e.g., Bölte et al., 2008,
Table 3; Pine et al., 2008). Although the SRS as
a dimensional measure may well be a reason-
Table 2
Parent Ratings on the Social Responsiveness Scale and the Social Communication Questionnaire as a
Function of Group
Group
GD CC
Variable (N 61) (N 40) F(1, 97) pp
2
SRS T-scores M(SD)
Total score 59.97 (13.68) 61.43 (13.77) 1
a
ns —
Boys 57.51 (11.87) 56.96 (12.10)
Girls 66.87 (16.33) 71.83 (11.99) 17.77
b
.001 .15
Social awareness 55.97 (10.97) 54.18 (11.25) 1
a
ns —
Boys 53.69 (10.73) 51.71 (10.74) 12.69
b
.001 .12
Girls 62.38 (9.17) 59.92 (10.69)
Social cognition 55.64 (12.93) 57.47 (13.69) 2.27
a
ns —
Boys 54.47 (12.54) 52.36 (10.49) 15.06
b
.001 .13
Girls 58.94 (13.84) 69.42 (13.10) 5.15
c
.025 .05
Social communication 58.13 (12.87) 59.75 (12.71) 1
a
ns —
Boys 55.42 (11.27) 56.50 (12.48) 15.22
b
.001 .14
Girls 65.75 (14.35) 67.33 (10.06)
Social motivation 58.46 (13.28) 60.75 (14.33) 1.39
a
ns —
Boys 56.84 (11.98) 56.75 (13.16) 10.86
b
.001 .10
Girls 63.00 (15.94) 70.08 (12.92)
Autistic mannerisms 64.00 (15.11) 65.00 (15.31) 1
a
ns —
Boys 62.89 (14.35) 60.39 (13.23) 8.85
b
.004 .08
Girls 67.13 (17.15) 75.75 (14.88)
SCQ total score 6.91 (4.85) 4.72 (3.25) 4.72
a
.033 .056
M(SD)
Boys 7.69 (5.27) 4.90 (3.62) 2.48
b
.119 —
Girls 5.14 (3.23) 4.33 (2.30)
Note.GDgender dysphoria; CC clinical comparison; SRS Social Responsiveness Scale; SCQ Social
Communications Questionnaire. SCQ available for 46 GD and 39 CC patients.
a
Fvalue for main effect for group.
b
Fvalue for main effect for sex.
c
Fvalue for Sex Group interaction.
8 LEEF ET AL.
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able screening tool for ASD, it appears to share
more variance than the SCQ in relation to more
general behavioral and emotional problems (in-
dicating nonspecificity to ASD), as judged by
the correlations with the CBCL reported on in
online supplemental material Table 4, consis-
tent with the argument advanced by Turban and
van Schalkwyk (2018).
The results for the clinical diagnosis of ASD
should, of course, be viewed with some caution.
The diagnosis (or lack thereof) was made by
different clinicians (and there was no overlap
among the clinicians who evaluated the children
referred for GD and the clinicians who evalu-
ated the CC group) and it was not possible to
have two clinicians independently make a judg-
ment about the presence or absence of ASD in
either group. However, it is important to note
that, within the group of children referred for
GD, those with a clinical diagnosis of ASD had
significantly higher scores on both the SCQ and
the SRS (ratings unknown to the clinician) than
for those children without a co-occurring ASD
diagnosis, which provides some support for the
concurrent validity of the clinical diagnosis.
From a theoretical perspective, how might
our data inform an understanding of the putative
co-occurrence of GD and ASD caseness and
traits? It is unlikely that GD predisposes a child
to develop ASD. In contrast, it has been sug-
gested that at least some characteristics of ASD
(e.g., the propensity to develop intense interests
or obsessions) could predispose a child to de-
velop GD if the contents of such interests/
obsessions become focused on gender-related
behaviors and cognitions (VanderLaan et al.,
2015; for other possibilities, see van der Miesen
et al., 2016). Such a focus is open to both
clinical and theoretical interpretation. On the
one hand, an intense interest per se can be con-
sidered normative (see, e.g., DeLoache, Simcock,
& Macari, 2007) and, in the case of some individ-
uals with ASD an example of neurodiversity
linked to gender diversity (van Schalkwyk, 2018);
on the other hand, when an interest slides into an
obsession that impairs social functioning, it is
more likely to be viewed as a cause for clinical
concern (Baron-Cohen & Wheelwright, 1999).
Without longitudinal data, the temporal rela-
tionship between GD and ASD cannot be read-
ily discerned and the requisite data sets are
likely to be very difficult to obtain. There are,
however, other methodological approaches that
might be informative. If, for example, one
started with the theoretical premise that the tem-
poral relationship is one in which the develop-
ment of ASD precedes the development of GD,
one could use the principle of multifinality (Cic-
chetti & Rogosch, 1996) in trying to identify
factors that differentiate children with ASD who
develop GD from those who do not.
Quite recently, the putative link between GD
and ASD has been challenged, for a host of
methodological reasons (Turban & van Schalk-
wyk, 2018; for rejoinders, see Strang, Janssen,
et al., 2018; van der Miesen, Cohen-Kettenis, &
de Vries, 2018). Indeed, it has even been argued
that at least some traits of ASD in children with
Table 3
Parent Ratings on the Social Responsiveness Scale and the Social Communication Questionnaire as a
Function of an ASD Clinical Diagnosis for the Children With Gender Dysphoria
ASD clinical diagnosis
Yes No
Variable (N 13) (N 48) tpCohen’s d
SRS T-scores M(SD)
Total score 67.08 (10.36) 58.04 (13.92) 2.17 .034 .73
Social awareness 60.23 (11.12) 54.81 (10.75) 1.60 ns .49
Social cognition 63.77 (12.10) 53.44 (12.35) 2.68 .009 .84
Social communication 61.23 (10.05) 57.29 (13.50) 1 ns .33
Social motivation 63.54 (12.13) 57.08 (13.35) 1.57 ns .50
Autistic mannerisms 74.69 (12.25) 61.10 (14.58) 3.07 .003 1.00
SCQ total score M(SD)
a
11.13 (4.54) 6.03 (4.48) 2.91 .006 1.13
Note. ASD autism spectrum disorder; SCQ Social Communications Questionnaire; SRS Social Responsiveness
Scale.
a
For the SCQ, the N/cell are 8 and 38, respectively.
9GENDER DYSPHORIA AND AUTISM SPECTRUM DISORDER
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This article is intended solely for the personal use of the individual user and is not to be disseminated broadly.
GD are artifactual secondary to nonsupportive
social environments (Turban, 2018). However,
this is a hypothesis that requires empirical test-
ing. In our view, we believe that the data from
the present study support the continued explo-
ration of the link, but one that will require more
nuance in identifying the factors that account
for the co-occurrence when it is present (e.g., in
the identification of third factors common to
both). For example, among a large sample of
children and adolescents with ASD but no co-
occurring diagnosis of GD (n48,730), Hisle-
Gorman et al. (2019) found that 5.7% had a
diagnosed intellectual disability. In contrast,
among children and adolescents with both ASD
and GD (n32), 9.4% had a diagnosed intel-
lectual disability. Perhaps the higher rate of
intellectual disability in the latter group is re-
lated to a more concrete and binary manner of
thinking about gender expression and gender
identity.
From a front-line clinical perspective (particu-
larly in resource-limited settings), we would rec-
ommend as a starting point the use of a screening
measure such as the SCQ (perhaps supplemented
with the SRS or the CSBQ). In the case of the
SCQ, evidence for putative caseness would then
call for the implementation of one of the gold-
standard assessment measures to confirm the di-
agnosis, such as the Autism Diagnostic Observa-
tion Schedule-2 (Lord et al., 2012) and the ADI-R
or the Developmental, Dimensional and Diagnos-
tic Interview (3Di) for ASD (Skuse et al., 2004).
Although there are now preliminary clinical
guidelines for adolescents with GD and ASD
(Strang, Meagher, et al., 2018), there are no
formal (or even provisional) guidelines for the
clinical management of children with both GD
and ASD. Thus, for children who have both
diagnoses, the front-line clinician needs to con-
sider how the varied therapeutic approaches that
have been discussed in relation to gender dys-
phoria proper may translate when working with
children who also have ASD (see the edited
volume by Drescher & Byne, 2012). Suppose,
for example, one wanted to advocate a watchful
waiting or wait-and-see approach with regard to
the gender dysphoria, with the assumption that
the long-term psychosexual trajectory is unclear
(Menvielle, Tuerk, & Perrin, 2005). It is possi-
ble, for example, that children with a co-
occurring ASD would have a harder time toler-
ating uncertainty (Di Ceglie, 2018) because of
their proneness to both cognitive and affective
rigidity. If this is indeed the case, advocates of
watchful waiting would have to implement ther-
apeutic strategies for helping such youngsters
cope better with such uncertainty. Alternatively,
it could be argued that because the watchful
waiting approach typically supports children
exploring their gender identity and expression,
it may result in a reduction of their rigidity and
allow for an improvement in the social skill
deficits that characterize ASD. In a broader
sense, both parents (see, e.g., Kuvalanka, Ma-
han, McGuire, & Hoffman, 2018) and the front-
line clinician need to recognize that the nature
of the association between GD and ASD is far
from clear and that this conceptual uncertainty
carries with it constraints on how one decides
what would constitute best-practice.
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Received July 2, 2018
Revision received July 10, 2019
Accepted July 23, 2019
13GENDER DYSPHORIA AND AUTISM SPECTRUM DISORDER
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... Erste klinische empirische Studien, darunter zwei Kohortenstudien (Becerra-Culqui et al., 2018;de Vries, Noens, Cohen-Kettenis, van Berckelaer-Onnes & Doreleijers, 2010) sowie fünf Chart-Reviews (Holt, Skagerberg, & Dunsford, 2016;Kaltiala-Heino, Sumia, Työläjärvi, & Lindberg, 2015;Leef et al., 2019;Nahata, Quinn, Caltabellotta, & Tishelman, 2017;Spack et al., 2012) untersuchten, wie häufi g GD und ASS gemeinsam in klinischen, auf GD spezialisierten Einrichtungen vorlagen. Zusammenfassend lag die Prävalenz von ASS bei Kindern und Jugendlichen mit GD zwischen 4.7 und 26 %. ...
... Zusammenfassend lag die Prävalenz von ASS bei Kindern und Jugendlichen mit GD zwischen 4.7 und 26 %. Die Schätzungen hingen davon ab, ob in den Zentren ausschließlich Fälle mit einer Diagnose für GD (de Vries et al., 2010;Leef et al., 2019;Nahata et al., 2017;Spack et al., 2012) oder auch subklinische Manifestationen (sogenannte Gendervarianz) miteinbezogen wurden (Becerra-Culqui et al., 2018;Holt et al., 2016;Kaltiala-Heino et al., 2015). ...
... Im Vergleich zu anderen international publizierten Prävalenzraten der ASS an klinischen Stichproben von Kindern und Jugendlichen mit GD (4.7 bis 26 %, vgl. Becerra-Culqui et al., 2018;de Vries et al., 2010;Holt et al., 2016;Kaltiala-Heino et al., 2015;Leef et al., 2019;Nahata et al., 2017;Spack et al., 2012) war die Prävalenz von ASS in der Hamburger Spezialsprechstunde niedriger. Eine mögliche Erklärung für solche Unterschiede könnte das "extreme" Geschlechterverhältnis der hier untersuchten Stichprobe sein. ...
Article
Zusammenfassung. Fragestellung: Aktuelle Studien weisen auf ein erhöhtes gemeinsames Auftreten von Geschlechtsdysphorie (GD) und Autismus-Spektrum-Störungen (ASS) hin. Diese Studie soll Aufschluss über die klinische Prävalenz von ASS bei Kindern und Jugendlichen in einer deutschen Spezialsprechstunde für GD sowie über personen- und behandlungsbezogene Merkmale bei vorliegender Doppeldiagnose (GD, ASS) geben. Methodik: Angaben zum Zuweisungsgeschlecht, Alter, Diagnosen (GD, ASS) und Behandlungsstatus von 680 Kindern und Jugendlichen (Zeitraum: 2013 bis 2018) wurden erfasst. Die Häufigkeit von ASS-Diagnosen (F84.0, F84.1, F84.5, F84.8 oder F84.9, gesichert und ASS-Verdacht) wurde innerhalb der Stichprobe mit GD-Diagnose (gesichert: F64.0, F64.2; Verdacht: F64.8, F64.9; n = 579) ausgewertet. Personen- und behandlungsbezogene Merkmale wurden vergleichend zwischen 18 Kindern und Jugendlichen mit Doppeldiagnose und 40 Kindern und Jugendlichen mit GD-, aber ohne ASS-Diagnose ausgewertet. Ergebnisse: Die klinische Prävalenz von ASS bei vorliegender GD-Diagnose lag unter Einschluss der Verdachtsfälle bei 3.1 %. Kinder und Jugendliche mit einer Doppeldiagnose erhielten signifikant häufiger eine GD-Verdachtsdiagnose und wurden signifikant seltener körpermedizinisch behandelt als Jugendliche ohne ASS-Diagnose. Schlussfolgerungen: Obwohl die gemeinsame Prävalenz von GD und ASS in dieser Untersuchung geringer als in anderen internationalen Sprechstunden ausfiel, sprechen die Zahlen für ein erhöhtes gemeinsames Auftreten der Phänomene. Die Behandlungsergebnisse verdeutlichen, dass eine ASS-Diagnose die Diagnostik bei GD sowie die Indikation somatischer, geschlechtsangleichender Maßnahmen erschweren kann.
... In a later study of 61 clinic referred, gender diverse CYP (45 AM; 16 AF; M = 7.97 years; range = 4.08-12.95), Leef et al (2019) found a main effect of sex on the Social Responsiveness Scale 2nd Edition (SRS-2) total scores and for each subdomain, whereby AF participants scored higher than AM participants. Some scholars have argued that high scores on AS screening tools within this clinical population may reflect social impairments that arise due to factors including emotional and behavioural difficulty, minority stress and poor peer relationships (Turban 2018;Turban and Schalkwyk 2018;Skagerberg et al. 2015). ...
... Prior study has demonstrated good psychometric properties and cross-cultural validity of this measure (Frazier et al. 2014). The SRS-2 has been used to measure 'features of AS' in studies investigating the co-occurrence of AS and GD in young people (Leef et al. 2019;Skagerberg, Ceglie and Carmichael 2015). ...
... Whilst not in the clinical range, consistent with prior empirical studies of clinic referred, gender diverse CYP (Leef et al. 2019;Skagerberg et al. 2015), participants in this cohort were rated as having a higher cut off of social impairment on the SRS-2, compared to general population samples of a similar age. For instance, adolescents in the present sample scored higher than those recruited to the SRS-2 standardisation study in the United States (US), whereby school age cis-males (n = 493) and cis-females (n = 518) obtained a mean score of 33.6 (SD = 25.2) and 29.0 (SD = 23.7) ...
Article
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Literature has documented inflated rates of features associated with autism spectrum (AS) in clinic referred, gender diverse young people. This study examined scores on the Social Responsiveness Scale, Second Edition (SRS-2) over time in a group of clinic referred, gender diverse adolescents accessing gonadotropin-releasing hormone analogues (GnRHa) to supress puberty. Primary caregivers of 95 adolescents presenting to the Gender Identity Development Service (GIDS) completed the SRS-2 prior to receiving endocrine input (mean age: 13.6 ± SEM: 0.11) and after approximately one year of accessing GnRHa (mean age: 14.6 ± SEM: 0.13). No significant differences in SRS-2 scores over time and between birth assigned sex were found. No interactions between time and birth assigned sex were established for SRS-2 subscales or total scores.
... Data relating to children and adolescents is more abundant than that available for adults. Three studies conducted medical record reviews to examine past diagnosis of ASD in their cohorts, with variable results ranging from 5 to 26% of children and adolescents referred to a gender clinic (Kaltiala-Heino et al. 2015;Leef et al. 2019;Nahata et al. 2017). The most reliable study used clinical assessment and the Diagnostic Interview for Social and Communication Disorders version 10 (DISCO-10) to identify diagnoses of ASD in 204 children and adolescents referred to a gender clinic in the Netherlands (de Vries et al. 2010). ...
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Autism spectrum disorders (ASD) and attention-deficit hyperactivity disorder (ADHD) can compromise health and may be more prevalent amongst individuals with gender dysphoria (GD). Symptoms such as attention or social difficulties can impact assessment of GD, understanding of health information, and engagement in clinical care. To ensure neurodevelopmental conditions are adequately considered in gender health services, we aimed to systematically review the literature examining the prevalence of ASD and ADHD amongst individuals with GD. In this systematic review based on the PRISMA guidelines. MEDLINE and PsycINFO databases were searched for studies examining the prevalence of ASD and/or ADHD in individuals with GD or investigated the rate of GD in cohorts with ASD or ADHD. All English peer-reviewed publications were included. The search strategy identified 179 studies. After applying exclusion criteria, a total of 30 studies were identified, 22 studies which examined the prevalence of ASD or ADHD in people with GD. A further 8 studies examined the reverse; prevalence of GD in people with ASD. The few studies employing diagnostic criteria for ASD suggest a prevalence of 6–26% in transgender populations, higher than the general population, but no different from individuals attending psychiatry clinics. Few studies examine prevalence of ADHD. Low-level evidence exists to suggest a link between ASD and GD. Further population-based and controlled studies using diagnostic criteria for ASD and ADHD are required.
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Since the establishment of the first transgender clinic in the United States in 2007, over sixty clinics associated with children’s hospitals have opened across the nation and are seeing very young children and adolescents with a diagnosis of gender dysphoria (GD). Once known as gender identity disorder, GD has been redefined by the latest version of the Diagnostic and Statistical Manual of Mental Disorders, fifth edition ( DSM-5) not as a mental illness but as the distress experienced by individuals related to their biological sex. The widely accepted practice of gender-affirming therapy (GAT) to treat a vulnerable population despite the associated health risks, the lack of supportive scientific evidence for the pharmacological and surgical interventions, along with the unqualified claim that these interventions will decrease the rate of suicide in these individuals presents a significant bioethical dilemma. The growing trend of GD not only impacts the individuals diagnosed but also society, culture, and the integrity of the profession of medicine. This article utilizes the five-box method, an ethical decision-making framework, to address the implications of the proposed treatment. Once applied, it becomes clear that the hormonal and surgical approaches used are not scientifically or ethically justified. The patient’s autonomy and preferences should be respected, yet constrained, if there exists a considerable risk to the well-being of the individual without proven benefits. The quality of life of those receiving this treatment has not been shown to be significantly improved long term, and the mental, physical, and spiritual health of individuals with GD is not thoroughly addressed in these clinics. The important social and contextual factors, on both microcosmic and macrocosmic scales, are minimized in favor of promoting an ideology. Ultimately, Catholic moral teaching reveals that this widely recommended treatment violates the body–soul union, disregards the principle of totality and integrity, and debases the dignity of humanity. Summary This article examines GAT, the paradigm used in treating individuals identifying as transgender, through the lens of an EDMF. Each stage of this widely proposed treatment - social affirmation, pubertal blockade, administration of cross-sex hormones, and sex reassignment surgery - poses harms and risks that are not fully disclosed to minors and families, creating a bioethical dilemma. Dialogue utilizing science and reasoning must be encouraged to assist individuals who experience a gender identity that rejects their biological sex. This approach would also contribute to the well-being of society.
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Objective: Research addressing the co-occurrence of autism (and/or neurodiversity) and gender-diversity (A/ND-GD) has been conducted largely without the perspectives and voices of the A/ND-GD community. Including A/ND-GD community advocates as research partners may be a critical next step for advancing research initiatives on the co-occurrence given the apparent complexity and alterity of the A/ND-GD experience. Method: Consistent with the community-based participatory research (CBPR) model we propose herein, our authorship team includes a partnership between clinician researchers and diverse A/ND-GD community collaborators. Multiple facets of the A/ND-GD lived experience are examined, including through narratives provided by our A/ND-GD community partners. Results: Based on our experience conducting A/ND-GD-related research and our lived experience as A/ND-GD self-advocates, we highlight challenges in this line of research, including risks of conducting studies without the involvement of the A/ND-GD community. And given that many A/ND-GD youth present with gender-related urgency during the teen years, we provide a developmental framework for how CBPR-informed methods may enrich our understanding of the care needs of these young people and provide context for the apparent heterogeneity in their gender needs and trajectories over time. Conclusions: Integrating CBPR methodologies in A/ND-GD research initiatives has the potential to optimize the relevance of the research questions asked and the interpretation and contextualization of study findings.
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Recently, there has been increased attention to a putative relationship between Autism Spectrum Disorder (ASD) and gender dysphoria, the Diagnostic and Statistical Manual of Mental Disorders, 5th Edition (DSM-5) diagnosis for those whose gender assigned at birth does not match their gender identity. Studies have shown an over-representation of ASD symptoms among transgender youth. These studies, however, have used scales that are non-specific for ASD. These ASD symptoms may represent social deficits that are secondary to social stress and deprivation, as transgender youth suffer high rates of peer and family rejection. These social deficits may not represent true ASD and may be reversible as patients are affirmed in their gender identities and social stress is reduced.
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Over the years I have found a number of metaphors which have helped me to deal with particular dynamics in therapeutic work or with group and institutional conflicts involving the Gender Identity Development Service at the Tavistock Centre. This nationwide service, which is for young people with atypical gender identity development and their families, was established in 1989. In this paper I describe some of these metaphors in relation to the particular problems or conflicts which had stimulated their appearance in my mind. The emergence of these metaphors links the vicissitudes of atypical gender identity development to issues regarding symbolisation or symbolic thinking. Metaphors such as ‘working at the edge’ or ‘navigating between Scylla and Charybdis’ allow the professional to hold on to multiple perspectives and to maintain a certain degree of ambiguity in situations in which the interpersonal dynamics can be experienced as rigid and deterministic. The emergence of metaphors can then be perceived by the professional with a sense of relief and freedom of thinking. In this paper, metaphors are linked to: the model of care developed; the therapeutic stance; and the aims, risks and pressures experienced by the professional in this area of work. The association between gender dysphoria in some young people and autistic spectrum features is explored. The paper emphasises the importance of responding flexibly to individual differences and of recognising complexity.
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Objective: We aimed to examine the autistic traits and executive functions that may require clinical attention in children and adolescents with gender dysphoria (GD). Method: The study sample consisted of 25 patients with GD, and 50 controls (aged 5-17 years). The instruments were Social Responsiveness Scale (SRS), and the Behavior Rating Inventory of Executive Function (BRIEF). Results: The GD (mean age: 11.56±4.15 years) and control (mean age: 11.42±3.91 years) groups were similar with respect to age and sex; around 50% of the GD group (n=13) and control groups were male (n=26). The BRIEF metacognitive index (t= 7.023, p<0.001), behavioral regulation index (t= 6.340, p<0.001), and global executive composite (t= 7.268, p<0.001) scores were significantly higher in the GD group when compared with the controls. Similarly, mean SRS scores were significantly higher in the GD group (t= 4.978, p<0.001). The GD group had statistically significant higher BRIEF global scores even after controlling for SRS-key autism scores (p<0.001). Conclusion: Young people with GD had relatively more disturbed behavior related to executive functions and social impairment associated with autistic traits when compared with their control counterparts. Although preliminary, our results may indicate a possible neurodevelopmental background for individuals with GD.
Article
Purpose: While gender dysphoria (GD) and autism spectrum disorder (ASD) are generally identified in isolation, research on individuals who are gender-referred or have autism suggests a possible overrepresentation of ASD in persons with GD and GD in persons with ASD. We investigated diagnosed GD in patients formally diagnosed with ASD and matched controls in the Military Health System. Methods: We performed a retrospective case-cohort study of GD diagnoses in children aged 2-18 years with and without ASD utilizing health care records from 2000 to 2013. Cases were formally diagnosed with ASD and matched to five controls by date of birth, gender marker, and enrollment time. Outpatient visits for GD were identified by relevant International Classification of Diseases, Ninth Revision codes. Logistic regression analysis determined odds ratios (ORs) and 95% confidence intervals (95% CIs) of GD diagnoses by ASD. Results: A total of 48,762 children with diagnosed ASD were identified, and each matched to five controls, for a total of 292,572 children. Cases and controls were each 80% assigned male at birth. The median end age of included children was 11.6 years. Of included children, 66 (0.02%) had diagnosed GD. Children with ASD were over four times as likely to be diagnosed with a condition indicating GD (OR 4.38 [95% CI 2.64-7.27], p < 0.001) compared with matched controls. Conclusion: This study corroborates previous research indicating an overrepresentation of GD in children with ASD. Further research is needed to understand the association and to demonstrate approaches to providing optimal care to these children.
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In their Translations article in the January issue of the Journal, Turban and van Schalkwyk provide a critical evaluation of the recently published literature on co-occurring gender dysphoria (GD) and autism spectrum disorder (ASD).¹ In addition, they refer to this flux in interest as part of a larger increase in publications on transgender people, which are mostly reviews and do not contain new data. Given the low-grade evidence in this field for most clinical recommendations,² good-quality research is of great relevance. We support the debate on the GD-ASD literature and acknowledge that translations of the findings to the lay press such as “Do transgender children just have autism?” are not helpful. Also, we agree with many of the limitations brought forward by the authors and acknowledge that, at present, sound underlying evidence for a GD−ASD link is lacking. However, we believe that some nuance in argumentation could help forward the debate of this clinically important topic.
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Turban and van Schalkwyk assert in their Translations article, “‘Gender Dysphoria’ and Autism Spectrum Disorder: Is the Link Real?,”¹ that an over-representation of autism spectrum disorder (ASD) in gender dysphoria is unsupported based on current evidence. They suggest that increases on ASD-related measures in transgender and gender-diverse groups are likely due to the nonspecificity of ASD screening tools (ie, false positives). They posit that findings of apparent ASD increases in gender-diverse youth might stem from “environmental factors related to social deprivation,” namely “a high prevalence of minority stress, poor peer relationships, and familial non-acceptance.” They suggest that in this context these social characteristics “could represent a reversible condition, because these patients do not have the intrinsic social cognitive deficits that underlie ASD.”
Article
Background: Understanding the magnitude of mental health problems, particularly life-threatening ones, experienced by transgender and/or gender nonconforming (TGNC) youth can lead to improved management of these conditions. Methods: Electronic medical records were used to identify a cohort of 588 transfeminine and 745 transmasculine children (3-9 years old) and adolescents (10-17 years old) enrolled in integrated health care systems in California and Georgia. Ten male and 10 female referent cisgender enrollees were matched to each TGNC individual on year of birth, race and/or ethnicity, study site, and membership year of the index date (first evidence of gender nonconforming status). Prevalence ratios were calculated by dividing the proportion of TGNC individuals with a specific mental health diagnosis or diagnostic category by the corresponding proportion in each reference group by transfeminine and/or transmasculine status, age group, and time period before the index date. Results: Common diagnoses for children and adolescents were attention deficit disorders (transfeminine 15%; transmasculine 16%) and depressive disorders (transfeminine 49%; transmasculine 62%), respectively. For all diagnostic categories, prevalence was severalfold higher among TGNC youth than in matched reference groups. Prevalence ratios (95% confidence intervals [CIs]) for history of self-inflicted injury in adolescents 6 months before the index date ranged from 18 (95% CI 4.4-82) to 144 (95% CI 36-1248). The corresponding range for suicidal ideation was 25 (95% CI 14-45) to 54 (95% CI 18-218). Conclusions: TGNC youth may present with mental health conditions requiring immediate evaluation and implementation of clinical, social, and educational gender identity support measures.