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Available online at

ScienceDirect
www.sciencedirect.com

Review article

Clinical characteristics and problems diagnosing autism spectrum

disorder in girls
H. Young a,*, M.-J. Oreve b, M. Speranza b
a
Service universitaire de psychiatrie de l’enfant et de l’adolescent, centre hospitalier de Versailles, université Paris-Sud, 177, rue de Versailles, 78150 Le
Chesnay, France
b
Service universitaire de psychiatrie de l’enfant et de l’adolescent, unité de recherche EA4047 HANDIReSP, unité PEDIATED, centre hospitalier de Versailles,
faculté des sciences de la santé, université de Versailles Saint-Quentin-en-Yvelines, 177, rue de Versailles, 78150 Le Chesnay, France

A R T I C L E I N F O A B S T R A C T

Article history: Background: Autism is a neurodevelopmental disorder with various clinical presentations. It has been
Received 16 May 2018 historically considered a male disorder. An increasing number of authors stress the existence of sex/
Accepted 30 June 2018 gender bias in prevalence and the need to define sex/gender differences in the clinical presentation.
Available online xxx
Review: Recently, an increasing number of authors have studied the impact of sex/gender on autism’s
clinical presentation. The sex ratio of four boys to one girl commonly reported in literature is questioned.
Keywords: Sociocultural and familial influences can impact female clinical presentation as well as the way the
Autism spectrum disorder
difficulties of girls with autism are perceived. Issues of autism diagnostic instruments such as sex/gender
Gender
Sex
bias are also studied since they have an impact on the access to diagnosis for girls. Clinical variability is a
Diagnosis part of autism spectrum disorder, but some traits appear to be more specific of the female phenotype:
Prevalence existence of a ‘‘camouflage’’ phenomenon and less unusual play or restricted interests.
Discussion: Better understanding and diagnosis of females with autism is required to ensure the access to
the support and treatment they need. Professionals must apprehend the sex/gender clinical differences
to prevent the frequent misdiagnosis or missed diagnosis of females with autism.
Conclusion: Pursuing research on sex/gender differences seems necessary to ensure appropriate support
and diagnosis of undiagnosed females.
C 2018 Elsevier Masson SAS. All rights reserved.

1. Background Few studies explore phenotypic differences of ASD between

Autism, or autism spectrum disorder (ASD), make up a
heterogeneous group of neurodevelopmental disorders. ASD is
characterized by deficits in socialization and communication as
well as restricted interests and repetitive or stereotyped behaviors
beginning in infancy or the toddler years (before 3 years of age).
Since the initial case series described by Kanner (1943) and
Asperger (1944), it has always been considered as predominantly
present in males. There are few studies exploring the relationship
between gender and ASD. They tend to explore various themes
such as genetics, hormonology [1] (testosterone for example), the
‘‘female protective effect’’ (girls should need a greater etiologic
load to manifest autistic behavioral impairments [2]), as well as
female prevalence of ASD and sensitivity to the female phenotype
in the assessment tools [3].
* Corresponding author.
E-mail address: H.Younga*heloiseyoung@wanadoo.fr (H. Young).
males and females, and the findings are not always related in a
straightforward manner. ASD is known to have an impact on
socioprofessional insertion and quality of life. An increasing
number of studies suggest a delayed diagnosis in females with
ASDs. A delay in care for ASD patients is known to be related to
more developmental difficulties. Therefore, it appears necessary to
study the female phenotype of ASD [4–7].
2. Methods
We searched PubMed for all articles published until August
2017 using search terms ‘‘sex OR gender OR females AND autism.’’
Then we screened all articles for relevance along with publications
identified via additional literature reviews. A total of 170 articles
on ASD symptomatology and diagnosis of girls and boys were
extensively reviewed.

https://doi.org/10.1016/j.arcped.2018.06.008
0929-693X/ C 2018 Elsevier Masson SAS. All rights reserved.

Please cite this article in press as: Young H, et al. Clinical characteristics and problems diagnosing autism spectrum disorder in girls.
Archives de Pédiatrie (2018), https://doi.org/10.1016/j.arcped.2018.06.008
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3. Diagnosis problems
3.1. ASD and gender
Most of the research on ASD has been conducted with
predominantly male samples. Our current understanding of the
pathogenesis and clinical presentation of ASD is therefore about
males with autism. Most studies use sex as a variable to control and
not as a specific independent aspect of ASD that needs to be studied
[8]. General population studies show that male and female brains
are distinctive in their way of functioning: distinctive neurological
physiology as well as distinctive cognitive profiles [9]. Despite
these differences, to reduce experimental variability, studies on
autistic behaviors mostly include males [8].
3.2. ASD prevalence
Estimated prevalence of ASD is 1% and about 1 in 68 [10]. The
mean male:female ratio most frequently found in the literature is
4:1 [10]. This ratio is not the same within the spectrum. In Asperger
autism, the sex ratio the most commonly encountered is 8–14:1.
When cognitive impairment is taken into account, the sex ratio
usually reported is lower: 2:1 (IQ < 70) to 1.3:1 (IQ < 50), even if
some studies show no association between cognitive impairment
and sex [11]. Two epidemiological studies [11,12] conducted in the
general population found some very different sex ratios. These
results were obtained by a two-step screening: use of the Autism
Spectrum Screening Questionnaire (ASSQ) first and then both the
Autism Diagnostic Interview Revised (ADI-R) and the Autism
Diagnostic Observation Schedule (ADOS). This screening allowed
Mattila et al. [11] to study the ASD prevalence in a population of
5484 8-year-old Finnish children. They found a male:female ratio
of 1.8:1 for ASD and 1.7:1 for high-functioning ASD. Kim et al. [12]
found a very similar male:female ratio of 2.5:1 when studying the
ASD prevalence in 55,266 7- to 12-year-old South Korean children.
Whatever the pathology in which a gender is known to be
predominant, there is a need to mention the possible existence of
bias in the diagnosis or in the sampling [13]. Thompson et al. [14]
have shown the existence of sampling bias while analyzing
qualitatively 392 articles on autism. In these studies, 80% of the
patients were males, 5% of the studies (20 studies) analyzed
variables considering gender/sex, and three studied the differences
in male and female intellectual quotients. Moreover, the vast
majority of samples were extracted from health clinics.
Our current understanding of ASD is based on male-centered
research [14]. The results presenting a different sex ratio than the
classical 4:1 male:female ratio may show that some recent studies
might have identified women with ASD more efficiently, particu-
larly in the absence of intellectual disability [7]. Therefore, it seems
essential to understand the various factors influencing the
diagnosis of ASD in females [7,8].
3.3. Sociocultural influences on ASD diagnosis
Until recently, the influence of sociocultural factors on genetics
has not been widely studied, whereas they can have an impact on
phenotypic variations between males and females [6]. Some
authors suggest that familial and sociocultural factors have an
influence on the clinical presentation and on the diagnosis of
females with ASD, in particular when there is no intellectual
disability (IQ > 70). ASD symptoms in females could then be less
clearly recognized because of their differences with so-called
typical ASD [3,6,15].
The diagnosis of ASD is based on the evaluation by healthcare
professionals, using the ADI-R, which is based on an interview with
both parents, and on the ADOS, which is based on observation.
Please cite this article in press as: Young H, et al. Clinical characteristics and problems diagnosing autism spectrum disorder in girls.
Archives de Pédiatrie (2018), https://doi.org/10.1016/j.arcped.2018.06.008
It appears that the diagnosis of ASD depends on different
factors: parents’perceived difficulties in their child, the way those
difficulties are understood by healthcare professionals, symptoms
exhibited by the patient, and finally the initial orientation toward a
specialized consultation. This initial orientation can be made by
parents, teachers, and healthcare professionals. The diagnosis and
more importantly, the care of females with ASD depend on the
representations of each actor of this initial orientation of how a girl
with ASD should behave.
3.3.1. Parents
Parents’ expectations concerning girls and boys commonly
differ. Accordingly, they will not have the same education and will
act differently. For example, the way a mother talks to her daughter
with a large number of emotional references reinforces social
abilities and empathy [6]. Games and play are widely influenced by
parents: a girl is going to be encouraged to play girls’ games (such
as dolls) and cooperative pretense play [16]. Parents of ASD
children expect from girls more social behaviors than from boys.
Therefore, the clinical presentation of girls could be influenced by
parenting education (pretense play, games with peers, empathy,
social interactions). Moreover, this could have an influence on
seeking healthcare (lack of social interactions considered as
shyness).
3.3.2. Teachers
School is frequently responsible for the first orientation to
specialized consultation as social difficulties are mostly first
identified at school. Therefore, teachers are key actors of the
diagnosis of ASD.
During school, the subtlety of girls’ difficulties makes them less
recognized [17,18]. Girls with ASD show fewer problematic
behaviors than boys (ADHD, hostility) [19,20]. During class, they
behave more discreetly, which is considered shyness [9,21], and
therefore do not draw attention.
Two studies [22,23] investigating ASD children’s behaviors on
the playground highlighted a biased representation on the part of
teachers. Teachers expect the same behaviors from girls as boys.
Whereas boys with ASD mostly stay alone during recess, girls often
have friends of the same age to take care of them. Therefore, they
are not as alone as boys on the playground and social deficits can be
masked. The camouflaging of symptoms often seen in girls with
ASD, by using the example of their peers in games and social
interactions, makes their recognition all the more difficult [23].
3.3.3. Doctors
Girls do not always show behaviors identified as typical of ASD
in the general population [3]. This might alter the health trajectory
as well as the capacity of the clinician to diagnose ASD. When a
disorder is considered as occurring more often in one sex than the
other, a risk of diagnosis bias exists [13], maintained by today’s
state of knowledge under-riding medical studies.
It has been shown that three factors are related to the precocity
of diagnosis: being male, having an intellectual disability (IQ < 70)
and the existence of a developmental regression [24]. Various
studies have highlighted that in the absence of intellectual
disability or of problematic behaviors, girls with ASD are less
likely than boys to be diagnosed, even in the presence of the same
level of difficulties [5,9,25,26]. Moreover, diagnosis is often
delayed [4,25]. Some authors add that doctors would be more
likely to exclude the diagnosis of ASD in the presence of another
pathology, particularly intellectual disability [25]. Intellectual
disability is then considered as the only diagnosis, even though
ASD symptoms are present. In this situation ASD behaviors are
considered as being a consequence of intellectual disability and not
a comorbidity. This kind of logic is not found for boys [5]. Therefore,
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the vision and formation of healthcare professionals, teachers, and
the general population on the clinical presentation of girls with
ASD should be broadened to ensure better identification and
diagnosis [6,27].
3.4. Classification and diagnostic tools
Autistic traits are homogenously distributed in the general
population [7] and ASD is at the extremities. We know that in the
general population, the distribution of autistic traits differs
between men and women. Therefore, the definition of the limits
of autism should take that difference into account. In clinical
practice, diagnoses cannot depend only on a statistical threshold.
The necessity of a diagnosis is also based on the existence of
functional impairments, suffering, and the need for care.
Classifications (DSM and ICD) and clinical tools (ADI-R and
ADOS in particular) have been based on Kanner and Asperger’s
descriptions. Therefore, their sensitivity concerns mostly the male
phenotype of ASD [28]. Researchers’ and clinicians’ main criticism
of the ADI-R and ADOS concerns the fact the sex has not been taken
into account in the development or the validation of these tools
[29]. If females present symptoms that are not included in the
diagnosis algorithms of ASD, those symptoms cannot be identified
and the diagnosis cannot be made [30]. Beggiato et al. [31] showed
that four items of the ADI-R show a significant difference between
boys and girls: the variety of facial expressions used to
communicate, pretense play, restricted interests, and unusual
preoccupations. The first two are good at discriminating the
difference considering sex. As those items seem to influence the
score of the algorithm and consequently of ASD, the application of
corrective factors related to the sex of the subject could improve
the sensitivity of the ADI-R to the female phenotype [31]. Kopp and
Gillberg [3] stress the lack of sensitivity of the ADOS to female
issues. This is strengthened by another study [32], which showed a
lower sensitivity of the ADOS (2 and 3) than the CARS regarding the
identification of girls with ASD and in comparison with boys. Since
the ADOS depends on clinical observations, a camouflage of
symptoms, which can be seen with girls, can explain this lack of
sensitivity. These tools seem to underestimate the symptomatic
severity of girls with ASD. Their reliability and sensitivity can
therefore be debated [3,33].
4. Clinical specificities of the female phenotype of ASD
4.1. Female phenotype
It is currently said that there are more girls with ASD who
present intellectual disability than a high level of functioning
(Table 1). Recent literature reports studying the link between sex
and ASD, focusing on women with ASD without intellectual
Table 1
Few characteristics of the ASD (autism spectrum disorders) female phenotype.
Domains
Social interaction
Communication
Restricted, repetitive patterns of behavior, interests,
or activities (RRBIs)
Please cite this article in press as: Young H, et al. Clinical characteristics and problems diagnosing autism spectrum disorder in girls.
Archives de Pédiatrie (2018), https://doi.org/10.1016/j.arcped.2018.06.008
3
disability, stress that women with ASD intellectual disability are
not sufficiently diagnosed. Some authors show that subtle
differences exist between male and female phenotypes in the
symptomatology, which can have an impact on the identification
of difficulties, even when the patients have the same level of ASD
severity [7,27].
Today, the literature seems to show similarities in the clinical
presentation of boys and girls at preschool age [2,33,34]. Pheno-
typical differences seem to appear particularly during primary and
middle school, as they begin adolescence. Adolescence is a period
of vulnerability for girls with ASD because of the new challenges
related to puberty and relationships with peers becoming more
complex [35].
During primary school, girls have as many difficulties in social
interactions and communication as boys [26,27]. They nonetheless
show less obvious autistic behaviors in the interpersonal context
[15], interpersonal difficulties, and externalized problems [27]. Their
pretense play is also relatively preserved [23,36]. Even though girls
seem to have the same type of social communication deficit, it
appears that their social motivation and desire to be appreciated by
peers is greater than it is for boys [7,8,21]. They also demonstrate a
better socioemotional reciprocity (nonverbal communication,
appropriate facial communication, offering comfort). A key notion
in the female phenotype of ASD is the ‘‘camouflage.’’ Considering the
same level of severity at the ADI-R during adulthood, women show
their autistic symptoms less (on the ADOS) but perceive them more
than men [15,22,26]. They try to hide their deficits with a great deal
of energy and show great determination to learn social and societal
norms and nuances [17,22]. This camouflage can be of two types:
active (use of strategies to mask their difficulties, copying peers, and
overcoming social communication deficits typical of ASD to ‘‘seem
normal’’ and maintain friendships) or passive (spontaneous
mimicking of behaviors such as accents) [17]. Peer groups play an
important part in this camouflage because they allow them to
develop friendships by helping them structure behaviors. These
friendships allow them to strengthen their ability to interact and
empathize [6].
Comorbidities are commonly associated with ASD; however, the
results reported in the literature diverge. They find more [17,26,37],
less [36], or the same level of internalized problems [15] in girls as in
boys. Those divergences could be the consequence of methodologi-
cal problems such as lack of statistical power related to small
samples, a wide age range, and modifications in clinical tools and
diagnosis criteria due to the evolution of diagnostic classification.
Women frequently have an anteriority of multiple diagnoses:
anxiety, anorexia nervosa, depression, and emergence of personality
disorder. Due to the camouflage of their deficits, girls and women
often experiment periods of distress [6,37]. These periods are related
to the repetition of negative societal reactions to their behaviors
despite the great efforts that can be executed to compensate their
Symptoms seen more in girls
Better conscience of the necessity of social interaction [17]
Desire to interact with others [18]
Passivity commonly perceived as shyness [18]
Tendency to mimic people [22]
Tendency to camouflage difficulties by developing compensation strategies [22]
One or few friends [7]
Usually being taken care of by peers at elementary school and bullied during middle school [6]
Tendency to be directive with peers during play [7]
Better imagination but repetitive and controlled pretense play with a lack of reciprocity [23]
RRBIs concern more people than objects, therefore they can be less recognized [6]
Fewer RRBIs [9,11,16,20,22]
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deficits (difficulties understanding the subtlety of nonverbal
communication leading to inadequate behaviors). Therefore, girls
can be more at risk of developing internalized problems (anxiety,
depression, somatic symptoms) [26,38], especially because they do
not have access to the support they need [22]. A recent study [19]
showed that ASD should be sought in presence of a high level of
emotional or behavioral disorder in girls (more than for boys).
4.2. Focus: restricted, repetitive patterns of behavior, interests, or
activities
At school age and during adolescence, it appears that between
girls and boys there are more differences in repetitive patterns of
behavior, interests, or activities (RRBIs) than in social communi-
cation [20,35]. Numerous authors show less frequent RRBIs in girls
than in boys [7,15,27,30,36,39] without it being related to IQ
[39]. Another hypothesis discussed is that girls and boys have the
same level of RRBIs but differences in the type of RRBI. Interests of
children with ASD might differ with sex. Therefore, a boy with ASD
may be passionate about maps, trains, and pipelines, a girl can be
focused on animals, dolls, or singers, which can be more difficult to
identify as RRBIs [3,7,18,23,28]. Girls also show fewer interests for
parts of objects and rituals [18].
A way to identify correctly a RRBI in an interest that can seem
typical of girls is to question its quality and intensity. Asking ‘‘Is
this activity causing social or academic problems?’’ or ‘‘Is this
activity allowing investment in other activities?’’ or ‘‘What
happens when you prevent her from doing this activity?’’ can
allow one to judge the quality of this interest and identify its
atypicality if necessary [6]. The underidentification of girls with
ASD can therefore be related to these atypical and subtle feminine
presentations in addition to symptoms that can be less severe than
for boys [3,5,7,22,28]. Frequently, in order to be diagnosed, girls/
women with ASD need to present behavioral problems, develop-
mental difficulties, or mental health problems at the same time
[19,25].
5. Discussion
Whatever the sex or the age, there is a negative impact on the
quality of life of people with ASD compared to the general
population. Quality of life must be improved, which depends on a
better identification of ASD symptoms. To allow access to the
support and care they need, better identification of girls and
women with ASD is essential, requiring therefore, acknowledge-
ment of the bias responsible for this misdiagnosis or missed
diagnosis. The relation between biases in sampling and diagnostic
criteria is important. Results concerning male samples lead to the
development and modification of diagnostic criteria that empha-
size the underestimation of the disorder for the sex considered as
less prevalent [13]. Some authors argue that new diagnostic
criteria, more sensitive to sex differences, may be necessary
[7,19]. Others argue that the main point is a better understanding
by professionals of the specificities of women’s behaviors given
that differences in the identification of symptoms between girls
and boys may be due to the way they are explored rather than the
way they are measured [8,20].
One way to improve the diagnostic sensitivity and to identify
the suffering related to compensation mechanisms could be to
carry out a self-evaluation for adolescents and adults. This self-
administered questionnaire, which could be proposed before or
after a consultation, could explore difficulties of everyday life [6],
which can be ignored because of the camouflage phenomenon.
These difficulties can be a poor understanding of social codes,
isolation, and the feeling of being bullied by peers, etc.
Please cite this article in press as: Young H, et al. Clinical characteristics and problems diagnosing autism spectrum disorder in girls.
Archives de Pédiatrie (2018), https://doi.org/10.1016/j.arcped.2018.06.008
Social deficits can be seen in various disorders such as ASD,
anxiety disorders, and emerging personality disorder. Therefore, in
some situations where social difficulties cannot be to attributed
ASD with certainty, one must retrace the developmental history to
understand whether they are explained better by ASD (lack of
social reciprocity, difficulties in regulating feelings, etc.) or by
another diagnosis. It seems necessary to explore further the
camouflaging that has been reported in various studies [17]. Self-
evaluation may be a good way to recognize it better, measure it, in
order to provide patients with the necessary care. Moreover, it
seems important to identify those girls/women who are not
diagnosed because of this camouflage to determine their long-term
progression and the support they need [8]. Variability in the
clinical presentation is part of ASD symptomatology. Therefore,
phenotypical differences between men and women do not allow
establishing a definition of clinical subtypes related to sex.
Nonetheless, professionals must know how to better identify
women with ASD (without intellectual disability) to allow a better
diagnosis. The delay in diagnosis, concerning especially girls with
ASD and a high level of functioning can cause academic problems,
problems with peer relationships, and internalized problems
[4]. An early diagnosis can reduce family stress and the
establishment of adapted care [4,40]. One must nonetheless be
careful not to pathologize women/girls with autistic traits without
intellectual disability but with no problems in everyday life [7].
6. Conclusion
It appears that various elements are implicated in the apparent
male predominance in ASD: methodological bias with predomi-
nantly masculine samples in studies on ASD, clinical tools based on
the male phenotype, and clinical differences between girls and
boys influenced by sociocultural and familial factors [6]. We need
to keep in mind that certain women (possibly those with an
IQ > 70 with no behavioral problems) are experiencing a delay in
diagnosis, errors in the diagnosis, or are not identified at all
[6]. Moreover, recent literature concerning girls/women with ASD
is centered on women with an IQ > 70. Therefore, there is very
little information on girls/women with an IQ < 70 or those who are
immediately under the diagnosis threshold. It is important to keep
in mind that a male bias can persist even with increased vigilance
or with the adjustment of diagnostic criteria because the way
female phenotype and errors in diagnosis influence the sex bias is
not known.
Pursuing explorations is imperative to identify the female
population in need of support. Moreover, a better understanding of
the influence of the biological sex of phenotypical presentation
could help research on ASD biology [8]. Finally, the first step is for
professionals to understand that ASD presents differently in boys
and girls. We need to search more but it is there. The fact that it is
not obvious does not mean it is not severe [9].
Disclosure of interest
The authors declare that they have no competing interest.
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