What is the most significant factor that leads to the misdiagnosis of autism spectrum disorder in

the 21st century?

Introduction

In this essay, I aim to explore the factors that cause the misdiagnosis of autism spectrum disorder
(ASD), and investigate the greatest contributor to such a pressing problem, by considering the
following subtopics: Overlapping diagnoses (focusing on psychiatric disorders with the highest
comorbidity rates, anxiety and OCD), Differences between boys and girls, Race and country and
Changes with age. ‘Autism’ in this context is referring to the entire spectrum of ASD, thus including
the whole group of the following disorders: Asperger's syndrome, Rett syndrome, childhood
disintegrative disorder, Kanner's syndrome, and pervasive developmental disorder. ASD is defined
as, “A set of lifelong developmental differences, which affect how someone perceives and processes
information, and responds and learns as they grow up” and “Epidemiological data estimates the
presence of 52 million cases of autism worldwide, affecting around 1-2% of children across the
globe." In the autism population ‘For every two cases of diagnosed autism, there are an additional
two cases of undiagnosed autism’. For the purpose of this project, this essay will investigate how
and to what extent each factor affects the presentation of autism socially, neurologically and
genetically, through research on the frequency and extremity rates of misdiagnosis. ASD
misdiagnosis stems all the way back to 1908 when it was primarily defined as ‘A subset of
schizophrenic patients who were especially withdrawn and self-absorbed’; followed by an American
child psychiatrist, Leo Kanner’s ‘Early infantile autism’ in 1943, which he described in his paper as 11
children who were highly intelligent but displayed a “powerful desire for aloneness” and “an
obsessive insistence on persistent sameness”.’ Due to these historical misconceptions, the scope of
this essay is to focus on misdiagnosis in the 21st century, provided we have now abolished these
myths and discovered the correct classification of autism.

Overlapping Diagnoses

The first factor leading to misdiagnosis is ‘Overlapping diagnoses’. Studies show that adults who
requested their first ASD diagnosis were frequently diagnosed with a range of other psychiatric
disorders, such as anxiety, attention-deficit hyperactivity disorder (ADHD), mood disorders, and
personality disorders. The two main causes of the misidentification of ASD are that it is either
mistaken for another disorder, due to the common nature of how they are expressed, or the
psychiatric disorder exists in comorbidity with autism, thus disguising core ASD symptoms. A pooled
prevalence of 20% for anxiety disorders, 11% for depressive disorders, 9% for OCD, 5% for bipolar
disorders, and 4% for schizophrenia spectrum disorders were found in a recent meta-analysis that
evaluated the prevalence of co-occurring mental health diagnoses in the autism population,
suggesting that such disorders are more common in people with ASD than their neurotypical peers,
thus this essay will explore these particular disorders. An investigation carried out by Tromans and
his colleagues on the prevalence of ASD among the adult psychiatric inpatient population was
conducted in a variety of settings, such as secure forensic and intellectual disability units and a state
psychiatric hospital. Four studies identified in the search concluded that ASD is over-represented and
underdiagnosed within the adult psychiatric community, and the prevalence is estimated at around
2.4-9.9%. The rather significant range in this percentage, however, suggested that further high-
quality research is required in this patient group, as well as developing more effective strategies for
diagnosis, therefore one should remain skeptical of the accuracy of this data. Nevertheless, a rather
extensive selection of methodological approaches was taken, such as screening tests, diagnostic
instruments, and diagnostic criteria, thus this is a reasonably fair outlook. Additionally, this
coexistence greatly confuses the diagnostic picture, as psychiatrists struggle to differentiate between
ASD and the simultaneous condition, or may struggle to identify the ASD conditions at all

Anxiety

Anxiety and autism have many similarities and often co-exist. Anxiety is defined by the NHS as, ‘A
feeling of unease, such as worry or fear that can be mild or severe. It becomes a clinical condition
when experienced for a prolonged period of time and when it has a significant impact on a person’s
life’. The branch of anxiety which is especially associated with autism is social anxiety, which is
‘Characterised by psychological anxiety manifesting before or during social situations, concerns
about negative evaluation and a tendency for avoiding interactions’. The first similarity is the origin
of both disorders, being triggered by a similar combination of biological and environmental
influences. Anxiety is often referred to as an evolutionary response, defined as ‘Nature’s first line of
defence, as the ability to sense potential danger before it strikes, as an evolutionary key to survival’.
Autistic people most likely experience anxiety because of their autism, while anxiety in their
neurotypical peers is usually because of external factors, such as upbringing, however both groups
still similarly experience environmental discomfort, ‘In their day-to-day lives, due to navigating social
and sensory environments that might be difficult or challenging’. An article suggests that both
parties share the following symptoms as a result of this disturbed feeling: restlessness or worry;
churning feeling of the stomach; fast, thumping, or irregular heartbeat; faster breathing; sweating or
hot flushes; nausea; insomnia and panic attacks. Clearly, it is challenging for psychiatrists to
differentiate between ASD and typical anxiety as the causing disorder of these common symptoms
however, the problem is further amplified by the fact that a recent study carried out by the National
Autistic Society found that 47% of autistic people fit into the severe anxiety category, based on the
Generalised Anxiety Disorder (GAD) criteria. However, the same study also suggests that anxiety is
not part of the autistic diagnostic criteria. So while the traits of social anxiety displayed by autistic
people are sufficient enough to fit the GAD criteria, the traits of social anxiety in autism do not aid
the diagnosis of autism. This perhaps suggests that those with autism and social anxiety are very
likely to be diagnosed with anxiety alone, excluding autism, especially because anxiety is not an
indicator of autism, based on the diagnostic criteria. Despite this, significant differences in the
estimated prevalence of anxiety amongst the autistic population in three different sources have
been found, either suggesting 47%, 50%, or 47-79%. This uncertainty in percentages indicates that
distinguishing between autism and anxiety is further challenging, as although a multitude of
methods has been used in each report, the articles disagree with each other. To worsen the
circumstances, anxiety symptoms heighten and increase in severity later on in life, thus if a child was
misdiagnosed with autism in their first diagnosis, while the anxiety inflames, the likelihood of autism
misdiagnosis increases, as it is more difficult to identify underlying autistic traits, so we can conclude
that autism misdiagnosis worsens with age, due to anxiety. Also, people with ASD camouflage their
autistic traits due to the anxiety they feel when perceiving themselves as ‘other’ and alienated from
society, contributing to misdiagnosis, as the autism is masked, yet the anxiety is highlighted by their
awkwardness in society. It can be considered however that anxiety may be a helping hand, when it
exists in comorbidity, in understanding the causes of autism, thus aiding psychiatrists with
identifying autism, and in the future, producing an effective intervention. There are three typical
concepts that often predict anxiety in ASD samples- atypical sensory function, alexithymia, and
intolerance of uncertainty- and these concepts are also a part of the ASD diagnostic criteria. Atypical
sensory function is reported across people with ASD of all ages and levels of severity. In a study, up
to 95% of parents of children with ASD claimed to notice atypical sensory behaviour such as seeming
indifference to pain, avoidance of certain sounds or textures, unusual smelling of objects, seeking
out visual experiences of lights or movement, which are all examples of restricted or repetitive
behaviour. Alexithymia is ‘A condition characterised by a reduced ability to identify and describe
one’s own emotion’, thus a reduced ability to empathise and recognise the emotion of others. For
example, one with alexithymia may be aware they are experiencing an emotion, but struggle to label
the emotion as sadness, anger, or fear. This hypothesis has extensive implications for the study of
autism and may help researchers discover methods to support subgroups of autistic individuals, with
or without, accompanying alexithymia. This is done by noting the presence of elevated levels of
alexithymia in anxiety disorders, and examining its contribution to the emotional symptoms of
anxiety, as it may yield results similar to what it does in autism. Lastly, people with anxiety tend to
experience intolerance of uncertainty (IU), which is characterised by a struggle with ambiguity and is
often recognised as a critical pathway to anxiety in ASD. This is because those with IU insist on
sameness, inflexible adherence to routines, and trouble managing change, which are all behaviours
said to be associated with ASD since the earliest descriptions of the disorder by Leo Kanner, which all
leads to the conclusion that IU plays a central role in the relationship between anxiety in ASD and IU.
Another report from the “Journal of Autism and Developmental Disorders”, agreed with this article,
as Boulter and her colleagues investigated the relationship between IU and anxiety in ASD, in both
parent and child samples, reporting higher scores on the Intolerance of Uncertainty Scale for
Children (IUS-C) and the (Spence Children’s Anxiety Scale (SCAS) in the ASD samples, than the typical
control group. Therefore, if IU is identified, it can be a signal for the presence of ASD too, aiding
diagnosis. There is evidence that all three of these concepts often work together in ASD, as ‘Sensory-
based anxiety is a critical subscale along with subscales for difficulty with uncertainty and
performance anxiety”. So, if a parent observes such behaviours in their child, especially if all three
concepts are identified in coherence, they could be encouraged to sign up for an ASD diagnosis,
considering such atypical sensory functions are on the ASD diagnostic criteria, therefore, in this way,
anxiety leads to the diagnosis of autism instead. However, while this could encourage one to get a
diagnosis, the chances of misdiagnosis are still the same. This is partly because the brain of someone
with anxiety responds very similarly to the brain of someone with ASD when exposed to stimuli. IU
presents itself the same in ASD as it does in anxiety, and the same report from the Journal of Autism
and Developmental Disorders” also confirms that significant relationships between IU and anxiety in
children with ASD, appear to function similarly in children with anxiety, but without ASD. Dr. Green,
assistant professor in the Department of Psychiatry and Biobehavioural Sciences, University of
California, Los Angeles, reported an investigation to compare differences in brain responses,
habituation, and connectivity on exposure to mildly aversive sensory stimuli, comparing samples of
children with both ASD and sensory over-responsivity (SOR), to samples of children with ASD without
SOR, using functional magnetic resonance imagery (fMRI). The same article states that “Sensory
over-responsivity is associated with greater functional impairment in individuals with ASDs, deficits
in social and adaptive skills, and anxiety”. We can be sure that SOR is often a key aspect of social
anxiety, however, for the objective of this report, we will make the assumption SOR is always
associated with anxiety, which means we should remain slightly skeptical of the relevance of these
findings. SOR can be visually detected in everyday life by one’s negative response to stressful stimuli.
In this investigation, participants were exposed to auditory (traffic noises), tactile (scratchy wool
fabric rubbed on the inner arm), and visual stimuli. Psychiatrists would not only struggle to
understand whether the negative response to such stimuli was a sign of anxiety or ASD through
one’s behavioural reaction, but even on a neurological level, the brain’s response to this sensory
overload is the same for both groups. It was found that autistic individuals with SOR, displayed
hyperactivity in primary sensory cortices, the amygdala and limbic areas, as well as brain areas that
are involved in primary sensory processing, emotion regulation, and response to threat. Those with
SOR showed decreased neural habituation to stimuli in sensory cortices and the amygdala.
Overreactivity observed in ASD individuals was most prominent when auditory (traffic noises), tactile
(scratchy wool fabric rubbed on the inner arm) and visual stimuli occurred simultaneously. This
poses two concerns: whether the hyperactivity demonstrated by these brain regions was caused by
the anxiety or the ASD of the individual, and the similarity in increased activity by individuals with
anxiety and ASD when multiple stimuli act simultaneously. Another article that focuses on auditory
sensitivity in adults with ASD only describes almost the exact same response as individuals with
anxiety. In terms of many stimuli at once, “Multiple people talking to each other at once can be
overwhelming”, and in terms of the brain, decreased habituation is shown again, meaning the
brain’s physiological response to a repeated stimulus decreases very slowly or does not reach the
relaxed state at all. 1

Therefore, while anxiety may be considered a signpost to autism, many sources also agree with the
idea that anxiety and ASD present themselves very similarly, on a behavioural, physiological, and
neurological level, therefore, making it very challenging to distinguish between the two disorders, as
ASD may be mistaken for anxiety or hidden if it exists in comorbidity, both leading to misdiagnosis.

OCD

OCD, defined by the NHS as, “a common mental health condition where a person has obsessive
thoughts and compulsive behaviours”, is another psychiatric disorder that obstructs autism
diagnosis, due to similarity and comorbidity. A study using meta-analytic techniques, aiming to
investigate the prevalence of OCD amongst a young population (aged <18 years) of ASD individuals,
estimated around 17.4%, based on standardised questionnaires and diagnostic interviews. Given
that the prevalence of OCD in the general population is around 1.6%, it can be deduced that OCD is
more prevalent amongst ASD patients, rather than the general population. Simultaneously, both
disorders share a number of features that leads to the erroneous overdiagnosis of OCD in the ASD
population. These include fixation on routine; ritualised patterns of verbal and non-verbal behaviour;
difficulty managing change and extremely restrictive interests. These common traits make it a
challenge to distinguish between rituals, stereotypes, and adherence to routines in ASD and
obsessions and compulsions in OCD. Despite this, it can be deduced that it is perhaps easier to tell
between OCD and ASD than it is anxiety. A study comparing the repetitive behaviour between
children with OCD and children with ASD, reported that both groups displayed similar levels of
sameness behaviour and repetitive movements, however, children with OCD displayed more of that
repetitive behaviour focused around routines and rituals. At the same time, while both groups
displayed more compulsions and obsessions than the typical control group, OCD reported this more
than ASD. The ASD group demonstrated less sophisticated compulsions and obsessions than those
with OCD. For the ASD group, sameness behaviour remained relatively consistent throughout the
different ages of the sample, however for the OCD group, such behaviour was more prevalent in
younger children. However, although there are reported differences in the behaviours of OCD and
ASD individuals, these disparities are so minor that it is almost equal to the natural variation of the
severity of each disorder we experience in a population, therefore differentiation still remains a
challenge for psychiatrists.

Both ASD and OCD can be inherited, and so they are also similar in the way they originate. American
Behavioural Geneticist, Dr. Smalley, from the Department of Psychiatry, UCLA School of Medicine,
stated in an article that “Autism is familial, as reflected in an empiric sibling recurrence risk of 3%
and pooled monozygotic and dizygotic concordance rates of 64% and 9%, respectively, which are
much greater than the population prevalence”. Very similarly, it has been reported that “Family and
twin studies have demonstrated that OCD is a multifactorial familial condition that involves both
polygenic and environmental risk factors”. Furthermore, another similarity in the way they originate
can be trauma. As well as genetics, environmental factors such as adverse perinatal events,
psychological and neurological trauma may slightly alter the expression of risk genes, and trigger
how OCD manifests itself. Core ASD symptoms may be worsened by trauma or previous stressful life
1
Yuan HL, Lai CYY, Wong MNK, Kwong TC, Choy YS, Mung SWY, Chan CCH.
Interventions for Sensory Over-Responsivity in Individuals with Autism Spectrum
Disorder: A Narrative Review. Children (Basel). 2022 Oct 19
events, even putting the individual at a greater risk of a comorbid psychiatric disorder, such as OCD,
therefore, psychiatrists cannot even differentiate between the two disorders, based on how they
may have originated, such as on genes or trauma, as both OCD and ASD are inherited and can be
triggered by stress.
To complicate matters more, an investigation on the longitudinal and offspring risk of ASD and OCR,
found that parents of 86 individuals with ASD had been previously diagnosed with OCD, in an 18,184
ASD population. Parental OCD increased in incidence rate ratio (IRR) for ASD in their offspring to
1.83. Therefore, not only can parents pass on their OCD to their offspring, parental OCR may
increase the chances of having autistic children, so family history will not help the diagnosis of
autism. Expectedly, the same report states that the risk of inheriting ASD is still highest when the
parents also have ASD, however parental OCD is still second in the chance of passing down ASD, thus
family history will sometimes, but not always help with diagnosing the child, as the condition
inherited is not always the exact same as seen in their parents.

Furthermore, both disorders share common treatments and pathophysiology. Antidepressants, such
as selective serotonin reuptake inhibitors, are usually the pharmacological treatment of choice for
most patients with OCD. However, recent studies have shown that such antidepressants may be of
value in the treatment of autism too. As this is a relatively recently established idea, it is vital to
ensure we have enough research to validate this data. In a report, two reviewers search PubMed
and Clinicaltrials.gov for placebo-controlled trials, which evaluated the effectiveness of using
serotonin receptor inhibitors (SRIs) for repetitive behaviours in ASD. Meta-analysis of 5 published
and 1 unpublished trial demonstrated a small but significant effect of SRI for the treatment of
repetitive behaviours in ASD. Therefore, the disorders can not be distinguished between based on
the medicine that may help relieve symptoms, thus it may be confirmed there is a comorbidity in the
way they are treated. However, it is crucial we question the reliability of these trials. There was
found to be significant publication bias in all analyses, and when data was adjusted to reverse the
effect of publication bias, SRI no longer provided a significant treatment for repetitive behaviours.
Therefore, we cannot yet determine whether treatment for OCD and ASD are similar until we
receive timely, transparent, and complete disclosure of trial results. The two disorders are so
closely linked, that there is some pharmacological overlap between them and similar neuroimaging
studies. To account for the portion of autistic patients who exhibit compulsive-like behaviours, a
putative OCD-autistic disorder was created. This hybrid of the two disorders further complicates
diagnosis, as it is an indicator that it is sometimes nearly impossible to assign an individual to one
disorder.

Autism is most likely to be mistaken for OCD if it is a type of ASD that tends to express itself at a later
age. Some may argue this helps the diagnosis of autism in later life, as those with a prior diagnosis of
OCD have an increased risk of being diagnosed with ASD later on. However, although a small
proportion of individuals with OCD may make this transition to ASD as they grow up, the chances of
initial misclassification when younger still exist. These individuals may have presented behavioural
abnormalities, such as repetitive behaviours, in early childhood, which almost mimicked OCD,
however, in later life, when social demands increased beyond their ability, deficits in social
interaction and communication became more prominent. Therefore, misdiagnosis due to OCD is
more common when younger, as there may be a delay in the presentation of prominent ASD
characteristics, thus shifting stress on compulsive behaviours instead.

Although many stereotyped, autistic behaviours which are classified as part of the broader autism
phenotype may resemble compulsive behaviours shown by OCD patients, most of the overlapping
traits still differ psychologically. The first difference is that OCD has an ego-dystonic nature, in which
the thoughts and compulsions experienced and expressed by the individual are not consistent with
their self-perception, leading the patient to resist them. In contrast, ASD patients may find such
repetitive behaviours pleasurable and may demonstrate aggressive reactions if their compulsions
are being stopped. It is considered to be rather challenging to differentiate between the two, based
on psychology alone, particularly if the individual’s language or intelligence is compromised.
Nevertheless, it could be argued the classification criteria for ASD are highly sensitive, thus perhaps
preventing the overdiagnosis of OCD. In fact, in this particular study, patients with a prior OCD onset
in contrast to other patients with ASD, displayed an OCD typical female to male ratio, supporting the
validity of diagnosis, thus perhaps OCD is not as great a contributor to diagnosis, as presumed.
However, limitations in this experiment may play a role in such results. Firstly, this report used
population-based nationwide registers in Denmark, however, OCD is underrepresented in the Danish
national register compared with ASD, thus the comorbidity, longitudinal and familial risks discussed
may not apply to milder cases of OCD. Secondly, individuals not yet diagnosed with ASD may have
shown symptoms of unspecific psychiatric disorders, perhaps resulting in diagnostic
misclassification, which may have affected results.

An article published in “The British Journal of Psychiatry” compares the obsessive-compulsive

behaviours of those with ASD, with such behaviours experienced by people with OCD. In this
method, a group of 40 adults with high-functioning ASD was administered the Yale-Brown
Obsessive-Compulsive Scale and Symptom Checklist. Their symptoms were then compared to a
gender-matched group of 45 adults with a primary diagnosis of OCD. The aim was to compare and
carefully distinguish OCD symptoms from stereotyped ASD behaviours and interests. Amongst the
40 people with ASD, 34 (85%) were male, and 6 (15%) were female. Amongst the 45 people with
OCD, 39 (87%) were male, and 6 (13%) were female. Therefore, is not an indicator or means of
distinction between OCD and ASD, as the male-to-female ratio is almost identical, thus making
differentiation more difficult. However, there were reported differences in the behaviours of the two
groups.

The OCD group reported significantly higher frequencies of somatic obsessions (24%) than the ASD
group (6%). Further analyses were done, comparing the symptoms between the group with ASD plus
a formal diagnosis of OCD with the only OCD group. Somatic obsessions were still higher in the OCD
group (53%) than the ASD plus formal diagnosis of OCD group (10%), therefore, it is evident that
somatic obsessions are most likely a sign of OCD, and misdiagnosis is less likely to occur in its
presence. The OCD group also reported significantly higher frequencies in repeating and checking
compulsions, thus it is easier to identify such behaviours as OCD-related. However, this only makes
the diagnosis of ASD marginally clearer. The differences in percentage for all other symptoms are still
rather similar, which makes differentiating between disorders very challenging most of the time. As
well as this, there are still limitations in the experiment. The OCD sample (mean age=36.6 years) was
significantly older than the ASD sample (mean age=27.9 years), thus it is unclear whether this
affected the results. Also, participants in the ASD group were selected from a specialist clinic that
treats patients with high levels of comorbidity (meaning potential symptoms caused by
accompanying psychiatric disorders were not observed), thus these results may not be applicable to
other ASD clinics.

In conclusion, although OCD may differ from ASD psychologically and very slightly in the
manifestation of obsessions and compulsions, their mostly similar behaviours, high comorbidity
rates, inheritance natures, and similar pharmacological treatment all lead to OCD being a rather
large contributor to the misdiagnosis of ASD.
Differences between boys and girls

Differences between the way ASD presents itself in girls, by contrast to its manifestation in boys,
lead to autism commonly misdiagnosed in girls. The male-to-female ratio for autism prevalence has
been an ongoing discussion, as initially in “Leo Kanner’s 1943 study of a small group of autistic
children, there were four times as many boys as girls” with autism. Years later in 2007, Professor
Traolach Brugha and his group aimed to estimate the prevalence of adults with autism in households
across England, by leading a multidisciplinary team in a two-phase epidemiological survey (7,641
screening and 618 diagnostic interviews). They found a prevalence of 1.8% of males diagnosed with
autism but only 0.2% of females. However, another source argues that the difference in diagnosis
rates is exaggerated, and a recent meta-analysis of prevalence studies analysed fifty-four studies,
with 13,784,284 participants, of whom 53,712 had ASD, 43,972 being boys and 9,740 being girls. Of
children meeting the criteria for ASD, the true male: female ratio was not 4:1 as commonly assumed,
but actually 3:1. This analysis is reliable as the studies screened the general population, to identify all
the autistic people present, rather than only looking at studies that ascertained participants with a
pre-existing ASD condition. Regardless of this slightly lower ratio, the difference in diagnosis rates for
males and females with ASD is still a large problem across the global population.

The first cause is how autism presents itself differently in females compared to males. In a podcast,
Dr. Ann Ozsivadijan, an independent clinical psychologist, a researcher at Kings' College London, and
a principal clinical psychologist at the Evelina London Children's Hospital stated that there are three
main differences between the female and male expression of ASD. The first area of difference is
social motivation - a series of research studies conducted by Dr. Felicity Sedgewick, Senior Lecturer
in Psychology education at the University of Bristol, and Dr. Vivian Hill, Professor of Psychology and
Human Development at University College London Institute of Education, in 2015, found that boys
with ASD form different friendships to non-autistic boys, caused by their relatively lower social
motivation. On the other hand, girls tend to have similar motivation to form relationships as their
non-autistic peers. Due to this, it could be argued that it is harder to identify a girl with autism as her
social motivation is of the same level as a typical person. However, Dr. Ann also states that girls still
find larger groups challenging to deal with, thus autistic traits are not entirely masked. Another key
difference stated is that while boys with ASD tend to have interests in areas more stereotypically
associated with ASD, such as mechanics, girls were interested in more socially-motivated
preoccupations, such as social media, to display their interests in religions, animals, movies, and pop
culture. Girls also tend to present with fewer repetitive or stereotyped behaviours, such as flapping
or spinning. Linking back to the previous factor of ‘Overlapping Diagnoses’ it could be argued that
because such repetitive behaviours are associated with OCD, misdiagnosis of ASD caused by
mistaking it for other psychiatric disorders is less common in females, however, more research
would need to be carried out on this to be able to understand further effects of female
camouflaging.

Camouflaging is defined as “behavioural adaptations that individuals with autism spectrum disorder
(ASD), especially females, use to mask symptoms during social situations”. It is more commonly
found in females with ASD, that a woman’s observed behaviour is considerably better than their
actual ability, and stems from traditional, societal expectations of women to remain sensible and
undisturbed. An investigation carried out on the ‘Female Camouflage Effect’, using a computerised
ADOS-2 (Diagnostic Observational Schedule- Second Edition), and a test of sex/gender difference,
assessed a group of 33 high-functioning Polish girls and boys, aged 5-10, with a formal diagnosis of
ASD. They participated in two demonstration activities of Module 3 of ADOS-2, and Polish versions of
the Eyes and Faces test. During the demonstration activities, the girls tended to use more vivid
gestures. During the Faces test, girls made significantly more mistakes than boys. However, the same
source states that in a Social Communication Questionnaire, completed by the parents, it was
reported that the current communication skills displayed by the boys were significantly better than
the girls. A common autistic trait is a social anxiety (as discussed above) and awkwardness, which
was presented in this study more by the girls, therefore, the idea of female camouflaging is not
consistent, and perhaps is not always the cause of ASD misdiagnosis in girls.

Another investigation backed this study, as it explores a new kind of camouflage based on language
differences. It considers the different meanings behind filling pauses in conversations with UH or
UM. UM is typically used to signal longer pauses, and is perhaps a sign of greater communicative
sophistication than UH. In this study, 65 school-aged children participated, with average IQ, and
speech samples from the Autism Diagnostic Observation Schedule were transcribed, time-aligned,
and had their filled pauses marked. Results showed higher UM ratios for girls than boys, while girls
used UH less often than boys across both diagnostic groups. Large-scale, cross-linguistic studies of
spoken and written language show that the frequency of how often these filler words used in
different groups vary based on their demographic. It is said that UM is used more often by women,
educated individuals, and younger generations however, UH is used more commonly by men, less
educated individuals, and older generations. When used by girls with ASD, it normalises the way
they sound to their typical peers and can be taken as a form of ‘linguistic camouflaging,
distinguishing them from boys with ASD, and because the diagnostic criteria are male-biased,
increasing the chances of misdiagnosis. However, it is important to consider the limitations of this
experiment, perhaps weakening this argument. The main inhibition of the accuracy of our results is
that sex differences in the use of filled pauses have never been studied in individuals with ASD. As
females have higher UM ratios than males, slight sex differences in the diagnostic groups could lead
to inaccurate results. In this experiment, there were 10% of girls in the ASD group, but 30% of girls in
the typical group. The reason why the UM ratio was higher in the typical group than in the ASD
group, may have been caused by the fact there was a higher percentage of girls in the typical group.
Regardless of this, however, this limitation does not take away from the fact that UM is more
prevalent in females, and perhaps it proves it even further, thus linguistic camouflaging is still a
cause of misdiagnosis of ASD in females.

A different source highlights a significant second idea that accounts for the discrepancies in
diagnosis. The theory proposed is the ‘Female Protective Effect’ (FPE), which is greatly discussed in
psychiatric research to understand the biased ratio. It suggests that females are ‘protected’ from
autism because greater environmental and/or genetic risk is required for females to express the
same degree of autistic characteristics as men. Many scientists explain that this protection is caused
by the female autism phenotype. This is defined as ‘a female-specific manifestation of autistic
strengths and difficulties, which fits imperfectly with the current, male-biased conceptualisations of
ASD’. This phenotype is expressed through higher social motivation, lower tendencies to
externalising behaviours such as hyperactivity or impulsivity, and a higher vulnerability to anxiety,
depression, and eating disorders. Furthermore, this phenotype means females consistently score
lower on measures of repetitive or stereotyped behaviours, agreeing with Dr. Ann, from the podcast
earlier. However, most studies aiming to investigate the gender differences in core diagnostic social
and communication symptoms have been inconclusive, and there is never a definite answer as to
whether females experience more or less social difficulties as males (there are always varying results
or limitations), leading us to question if this female autism phenotype is as distinct to male
phenotype as we predict. Furthermore, reports question whether females really do present less
repetitive behaviours than men, or if female-typical repetitive behaviours do not register on current
measurement tools. However, this could lead to the argument that diagnostic tools were produced
with built-in male bias, thus the repetitive behaviours of females are not picked up by them, leading
to further misdiagnosis in females. In fact, a different report agrees that ‘All autism measures were
designed and validated using predominantly male samples’, thus female-typical repetitive and
stereotyped behaviour, may not be captured by current measures. Despite this, the final weakness
of the phenotype argument is that most investigations exploring the phenotype, select participants
who are already in autism clinics. This, therefore, excludes the candidates most relevant to the
study- females, who have been misdiagnosed by clinical practices because their ASD is an expression
of the female autism phenotype. Therefore, not enough is known about the female phenotype, and
the way in which It manifests, therefore, we cannot be certain to what extent it affects the
misdiagnosis of autism.

In terms of genetics, certain findings suggest there may be a higher genetic threshold for ASD in
females relative to men. Firstly, there is a higher rate of ASD recurrence in families of female
probands than in families of male probands. Also within those families of female probands, there are
higher rates of autistic traits. Secondly, many different reports have found that autistic females carry
a higher mutational burden, including a higher frequency of copy number variants (CNVs). An
experiment aiming to investigate the large biological network of genes affected by rare de novo
(which are the most unique form of rare genetic variation due to their extremely low incidence )
CNVs in autism, found that female genes, on average, have stronger connections with other genes
that are in the identified network. This is because the genes affected by de novo CNVs in females are
significantly more important for the overall cluster score. This leads to the idea that stronger genetic
perturbations are required for the autism phenotype to be expressed in females, in a way that can
be detected by male-biased diagnostic tools. The stronger perturbations are caused by two
mechanisms: CNVs encompassing a larger pool of genes linked to ASD and CNVs intersecting
individual genes that produce an impact that is increasingly deleterious when disrupted. A different
study agrees that females who do not meet the current diagnostic criteria, may have a lower genetic
risk, or display genetic variations that have not yet been associated with autism. In this way, not only
is ASD protected by females, in the way they choose to act in society, but it is also genetically
protected, in a way females cannot choose.

Despite this, other sources argue that perhaps the male-to-female ratio for autism prevalence is so
high because autism is genetically more likely to occur in men. The X chromosome may be seen as a
proposed source of the protected factor, with a protective gene expressed on the paternal X
chromosome for females, which increases the threshold for autism expression, relative to males.
Furthermore, environmental factors, such as in vitro exposure to medication, may interact with
genetic risks to further increase the chance of autism in males, which in turn increases the FPE
theory in women, and justifies the misdiagnosis in females.

Hormones also play a role in the etiology of ASD and the gender differences observed in the
prevalence of ASD. These are explained in the ‘Extreme Male Theory’, which proposes that
androgens and related sex hormones, such as testosterone, which are more common in males, may
underlie many stereotyped autistic behaviours. Characteristics associated with autism are also
proposed to represent typical male characteristics, such as high levels of systemising abilities,
difficulties empathising with others and reduced ability to express emotion. On the other hand,
those with lower levels of androgens or testosterone, such as females, are protected against autistic
characteristics. However, the same source suggests that this theory is associated with foetal and
early developmental androgen levels, which have a very limited relationship with autism diagnosis.
Another experiment emphasises the idea that it is prenatal exposure to testosterone that affects
foetal brain maturation, as well as postnatal cognition and behaviour in animal studies. In this study,
78 girls, aged 10, were assessed on pragmatic language skills, using a pragmatic language score (PLS),
and correlated with testosterone levels in the umbilical cord blood. They found that the greater the
free androgen index (FAI), the greater the pragmatic language difficulties experienced by the girls.
Thus, prenatal exposure to testosterone is linked to a greater prenatal expression of autistic traits.
Therefore, this experiment demonstrates how masculine hormones contribute to a greater
prevalence of men with autism.

In conclusion, while the male-to-female ratio for autism prevalence may be exaggerated or uncertain
in many reports, ranging from 2:1 to 16:1, it is undoubtedly more frequently diagnosed in men, due
to camouflaging, the female autism phenotype, the protective X chromosome, the Female Protective
Theory, the Extreme Male Theory and lastly androgens/hormones, which all lead to a higher
probability of the under-recognition of autism in females, and thus differences between boys and
girls is a relatively large contributor to the misdiagnosis of autism in women.

Race and Country

The prevalence of autism varies around the world, and the aim of this chapter is to explore the key
reasons why certain countries have a lower autism prevalence than others, based on three main
factors: environmental, cultural, and socioeconomic status. Reports have found that under-
identification and delayed diagnosis of ASD has appeared consistently in minority racial groups,
leading to hindered access to interventions. In fact, Black/African American children are less likely to
have an evaluation for ASD by 3 years of age than non-Hispanic While children. There are many
mechanisms that cause such disparities, associated with lack of access to care, stigma, implicit and
explicit clinical bias, and developmental literacy. In particular, a study focused on the effect of racial
bias in standardised diagnostic assessments, in terms of timing and accuracy for an ASD diagnosis in
different racial groups. The reference standardised measure of ASD, used globally, is the Autistic
Diagnostic Observation Schedule, Second Edition (ADOS-2), which is a semi-structured observational
measure, providing specific probes for evaluating communications, social interaction, and
repetitive/restricted behaviours (RRBs). There was found to be a small but significant item-level bias
for race and ethnicity, highlighting the need to reevaluate norms and operational definitions
commonly used in diagnostic criteria. Thus, one cause of the low prevalence of autism in certain
racial and ethnic groups is innate bias in ADOS-2.

More research has been done on the varying factors that affect autism prevalence in different
countries, and it has been found that one of the main reasons why prevalence is higher in more
developed countries is that parents are more eager to obtain a diagnosis for their child’s difficulties,
given they are aware there are additional services available, which they can access, and receive
special care. On the other hand, developing countries do not have such a selection of healthcare
support and instead focus more on culture and social normalities. A particular study focused on Iran,
representing a less developed country. Iranian culture forms a negative aura around disability, and
parents prefer their children to attend schools for ordinary developing pupils, rather than being
referred to a special needs school. Due to this stigma, autism, as well as any other developmental
difficulties, may be underreported, despite parents or teachers being aware of the problems, to
ensure children attend typical lessons and fit social standards. To further exacerbate the problem,
screening tools used in Iran heavily depend on parental reports, and there is usually limited time and
opportunity for assessors themselves to interact with and observe the child, thus a more
sophisticated, consensus decision cannot be formed, and the frequency of misdiagnoses increases
even more. Another reason for lower prevalence rates is that children with disabilities in developing
countries, tend to have been diverted away from educational services at a younger age, and so are
excluded from the screening for pupils to enrol for elementary school, thus these autistic children
are left out of reports. Furthermore, for severely affected children, or perhaps children experiencing
a comorbid disorder, mortality rates are higher, and so the ASD prevalence in the national
population would be reduced.

Another reason for the lower prevalence, is that developing countries experience a lack of education
and therefore understanding of ASD, and how to diagnose it, perhaps leading them to be more
tolerant of behaviours that would otherwise be viewed as ‘abnormal’ in Western countries. An
Iranian child could present the same symptoms in clinical assessments as an American child,
however, the Iranian child would be misdiagnosed, while the American would receive additional
care. Comparing this to a different study focused on the period of time between a parent’s initial
recognition of unusual behaviour, and the eventful diagnosis, a similar outcome was found.
Researchers have found that this sequence of initial symptom recognition, help-seeking and initial
diagnosis varies within a culture, and across ethnic groups, and the aim is to investigate how and
why it does this. The report highlights the importance of accurate diagnosis, which, like Iran, is
unlikely as it is all dependent on the observing family member’s ability to identify problematic
behaviours. It has been found that autism researchers have almost entirely neglected families of
ethnic minorities and to further understand the diagnostic gap between the Western and non-
Western world, data from 95 families of autistic children in India, was taken to assess how long it
took parents to initially notice symptoms, and then compare this to Western results. Results from
the India sample ranged from about 3 months to 6 years, while studies from the West reported 14.9
to 19.1 months. This allows for the conclusion that parents of autistic children in developing
countries recognise symptoms significantly later than parents in Western countries, perhaps
explained by the lack of education and focus on social normalities above, as well as the negligence
experienced by autism researchers, all leading to a greater rate of misdiagnosis in less developed
countries.

Despite this, there are a few complications in the argument. It states that ‘India has by far the largest
literature on the disorder’. Since 1962, over 50 articles and chapters on infantile autism in Indian
publications, by Indian authors, suggest that the diagnosis of the disorder is well-understood.
However, there is also evidence that the understanding of autism in India is still developing, and,
even as recently as 1987, autism was being referred to as ‘childhood schizophrenia’. Also, a different
chapter on child mental health expressed the presence and role of psychosocial stressors in the
etiology of autism, however, recent articles have proved there are actually biological explanations.
Thus, a variety of research does not always result in accurate research, and ‘several researchers
claim that autism in places such as India is rare or nonexistent, or if present, then not reported’.
Therefore, the literature is still neglecting developing countries and no descriptions of cases of
autism amongst the indigenous populations of developing countries are reported.

On the other hand, a different report argues that there appear to be actual differences in the
behavioural symptoms between a Western and a non-Western group of children. It compared the
behavioural symptoms displayed by 40 African Americans in the United States, and 40 Kenyan
individuals with ASD, controlled for age and gender, using the Gilliam Autism Rating Scale (GARS),
the Autism Behaviour Checklist (ABC), and a Developmental History Questionaire (DHQ). Results
showed a clear trend that Kenyans have more problems with all behavioural symptoms of autism
than Americans. At ages 3-7, Kenyans showed fewer problems on the ABC, and as they grew to 8-12,
they showed fewer problems with social interaction on the GARS. However, as they reached ages 8-
21, for both Americans and Kenyans, behavioural symptoms increased. Overall, it was found that
symptoms increased with age for Kenyans but displayed a negative relationship with age for African
Americans. This means that if Kenyans show more prominent autistic traits as they get older, autism
diagnosis is more likely to be delayed. More research is required to explain these findings, however,
the time taken for the manifestation of the autism phenotype varies between cultural groups, and
so, for Kenyans, the delay in manifestation may lead to a delayed diagnosis.

Despite this, a report focusing on the prevalence and characteristics of ASD among children, aged 8,
whose parents lived in Autism and Developmental Disabilities Monitoring (ADDM) Network sites.
The ADDM Network reported a decreasing frequency of racial and ethnic disparities in ASD
prevalence in 2016, describing there to be no reported difference between ASD prevalence in non-
Hispanic White and non-Hispanic Black children, aged 8. Despite this, other disparities still exist in
the same way, such that Black children with ASD are more likely to experience intellectual disability
than White children with ASD. Also, Black children were still found to be evaluated at a later age
than White children. However, opposing many preconceptions, this report found that the overall
ASD prevalence among Hispanic children was lower than among Black and White children. Thus,
Black children experience worse behavioural problems associated with ASD and receive a later
diagnosis, relative to White children, both of which agree with the previous report that Kenyans
receive a delayed diagnosis. However, in this case, opposing typical preconceptions, the overall ASD
prevalence among Hispanic children was lower than among Black and White children, suggesting the
highest frequency of misdiagnosis in the Hispanic community.

Another report agrees with this argument, suggesting that children of Hispanic descent have the
lowest prevalence of ASD, while Whites tend to have the highest prevalence. However, there is very
limited data available investigating the relationship between ASD prevalence and ethnicity, and the
only evidence we have explores the diversity in the United States, comparing children of Hispanic
descent with White children only. Therefore, ASD prevalence globally may not be lowest in the
Hispanic community, however, it can definitely be assumed to be amongst the lowest prevalences.
Despite this, a much-discussed increase in ASD prevalence has been observed, caused by the
broadening of the diagnostic criteria, to fit those previously missed, and the refinement of diagnostic
methodology. This increase in prevalence has been observed worldwide, thus we can deduce this
refinement in diagnostic procedures was not carried out locally, but on a global level, therefore,
perhaps the effect of race and country on ASD misdiagnosis has been reduced.

In conclusion, while there has been reported to be biased in the primary, most-used diagnostic tool,
ADOS-2, providing the delayed diagnosis of Black children, two other reports suggest the
manifestation of the autism phenotype in Black people is delayed, and autistic characteristics are
only observed later on in life. Also, multiple variations in several reports regarding the country or
ethnic group most frequently affected by diagnostic bias prevent the possibility of an accurate
conclusion to be formed, however, it can be deduced that Hispanic children are highly likely to
receive an ASD misdiagnosis, as supported by multiple studies. While more research is needed to be
carried out on the reasons for differences in ASD prevalences between countries, it is almost certain
that cultural practices, such as trying to abide by societal normalities in Iran, and a lack of
understanding of ASD behaviours in less developed countries, especially those reliant on initial
parental recognition, all contribute to a relatively large degree to the misdiagnosis of autism.

Changes with age

Autism is a lifelong condition, however, most studies of the disorder focus on a particular moment of
an autistic individual’s life, rather than considering its fluctuations or progressions across the entire
lifespan. The reason for this is that research on one person for such a prolonged amount of time
would be expensive and require large amounts of effort from both family and researchers sides. In
this chapter, different reports will be compared, which focus on a particular age range, to conclude
whether ASD changes with age, and how the chances of misdiagnosis may fluctuate with age.

One study followed the pattern of ASD severity from early childhood to early adolescence, aiming to
plot longitudinal trajectories of severity from ages 2 to 15. It was hypothesised that a small group of
the participants may show marked changes in ASD severity over time, showing the highest mean
baseline and rate of growth in verbal IQ (VIQ). 1026 assessments were collected longitudinally
throughout this entire period, and standardised ADOS severity scores were applied to them. Patients
included 345 clinic referrals and research participants with at least one of the best estimated ASD
clinical diagnoses and repeated ADOS, VIQ, and nonverbal IQ scores. The results showed that over
80% of the participants were assigned to rather persistent high or moderately high-severity classes,
however, two classes displayed slight variations, one increasing in severity, and the other
decreasing. The VIQ was found the be the most significant predictor of the severity classes. Linguistic
abilities were, therefore, seen to increase in most classes from ages 2 to 15, except in the worsening
class. Adaptive behaviour declined in all but the improvising class, suggesting that in most cases,
autistic people become less able to camouflage their autism with age. From this study, we can
discern that despite verbal IQ increasing with age, in most other aspects, camouflaging autistic traits
becomes increasingly challenging with age, thus the misdiagnosis of autism is perhaps less likely to
occur in older people, as their autistic phenotype is expressed to a higher degree.

A different study agrees with the idea that autism is more prominent as an individual grows older, in
which the demographic and cognitive profile of adults seeking an ASD diagnosis was explored. A
group of adults was referred to a specialist diagnostic centre and their possibly autistic
characteristics were observed. In this group, 100 individuals received an ASD diagnosis, and 46 did
not. Demographic differences were noted between the groups, the main one being a higher self-
rated severity of ASD traits than non-ASD individuals. This means that as age increases, ratings of
ASD traits heighten. However, as well as this, better cognitive performance was observed, which
may be seen to mask certain autistic characteristics, such as intellectual disabilities, disagreeing with
the previous study that the ability to camouflage autistic traits decreases with age, and instead
makes the diagnosis of ASD more difficult with age. However, the same study stated that the
improvement of general cognitive ability and the development of coping strategies do not
necessarily reduce ASD traits but alter their effects slightly. Therefore, again, as age increases, the
misdiagnosis of autism is perhaps less likely.

Now that autism in adulthood has been explored, it is important to look at the changes in autism
throughout childhood, as this is where the majority of development occurs in an individual. In an
experiment to examine the stability of ASD diagnoses made at ages 2 to 9 years, standardised
methodological approaches were taken such as a parent interview (Autism Diagnostic Interview-
Revised [ADI-RI]), an observational scale (ADOS), and independent clinical diagnoses made at age 2,
and then later at 9, and compared using standardised criteria produced by a clinical research team.
Initial concerns should be reported by parents in the very first few years of life because the unusual
pattern of development caused by autism begins in infancy or toddler years, characterised by deficits
in three key areas: reciprocal social interaction, communication, and restricted/repetitive
behaviours. However, it has been found that diagnosis of autism is rarely this simple in toddlers, and
several intervention projects have reported diagnostic changes and abnormal levels of improvement
in a substantial minority of young children with autism. Alternatively, other reports have found little
diagnostic change and fewer marked improvements. Reasons provided for such conflicting results,
thus far, are diagnostic instability or the lack of age-appropriate diagnostic criteria for very young
children.
Another report suggests that autism can be diagnosed in individuals before age 3 and signs of autism
remain constant, even as they become older children, thus chances of misdiagnosis remain constant
from birth to late childhood. This was seen in an investigation, comprising 28 children referred with
a preliminary diagnosis of ASD under the age of 3, and was consistently examined from a
neuropsychiatric point of view, and followed up for several months to several years. In 75% of the
cases, ASD was confirmed several years after their preliminary diagnosis. This means that in most
cases, the neurological background of a child, aged 3, with ASD remains constant as they grow older,
thus ASD does not change with age, and so age is not a contributor to the misdiagnosis of autism.

A different study aimed to understand the effect of IQ and age on the ability of children with ASD.
164 participants were analysed, all ages 3 to 15 years old. In the early years of life, 67% of children
have the normal motor and delayed speech milestones. Verbal IQ scores were lower than non-verbal
IQ scores during preschool years. By school age, verbal IQ scores and non-verbal IQ scores were the
same. Visual reasoning exceeded graphomotor scores for all children and surpassed IQ for most.
School-aged children with low IQs, performed relatively poorly in math, spelling, and writing scores,
however, reading with done relatively well. For school-aged children with high IQs, reading, math,
and spelling scores were relatively average, and writing was done poorly. They found that as age
increased, so did IQ, which means that over time, autistic children become brighter, and brighter
children receive a later diagnosis. Considering, most children expressed more prominent linguistic
and cognitive problems earlier in their lives, it could perhaps be deduced that ASD is easier identified
at a younger age, as when they grow up, their troubles with the school are fluctuating, overall they
become brighter, and ASD is made more difficult to identify. Therefore, while the previous report
suggests misdiagnosis of autism does not increase with age, this study disagrees, suggesting the
opposite.

To further complicate the argument, in the book “How to raise a happy autistic child”, Jessie
Hewitson includes a direct quote from Dr. Hertz-Picciotto, environmental epidemiologist, best
known for her studies on autism, who states that ‘Few professionals will diagnose a child under two,
but faced with a child showing symptoms at 18 months to two and a half years, a decent one will at
least use words like “we need to keep an eye on his social communication”’. Not only does this book
suggest that ASD likelihood of misdiagnosis in children is dependent on the experience and extent of
knowledge shown by the psychiatrist, but also the level of training done by nursery staff, to spot SEN
(special educational needs) in the child.

An alternative way of predicting whether autism changes with age and thus the likelihood of
misdiagnosis, is analysing how brain volume may fluctuate as age increases. It has been found that
“ASD individuals have increased total brain volume (TBV)”, and so investigating how this may change
with time, could be an indicator of how autism progresses. An experiment was done, aiming to
understand the effects of age on brain volume and head circumference in autism. The idea was that
brain weight, head circumference and MRI brain volume are all increased in autistic children,
however, studies of brain size in autistic adults have presented conflicted results. It has been
hypothesised that this enlarging of the brain is a feature of brain development during the younger
ages of autism, however, during the maturation process, the size returns relatively back to normal.
The study involved 67 participants, ranging in age from 8 to 46, with ASD, whose total brain volumes
were measured from 1.5-mm coronal MRI scans, as well as head circumference. Results showed that
brain volumes for children, 12 years old or younger, with ASD, were significantly larger than the
typically developing control group, however, the brain volumes for those with ASD over 12, did not
differ from the control group. Head circumferences of both younger and older groups were larger
than the control groups, however, this only further confirms that individuals with ASD had enlarged
brain volumes when younger. Therefore, accelerated brain growth in the early life of an autistic child
compared to a typically developing child may be a significant indicator of autism, therefore autism is
less likely to be misdiagnosed when assessed at a younger age. However, the same study also
suggests that in adults, although the brain volume appears normal, similar to that of their typical
peers, there appears to be a slight decrease in brain volume for these individuals at the same time
that their typical peers present increasing brain volume with age. Therefore, autism changes with
age, on a neurological level, and predictions can be formed on whether one has autism, based on
the fact that younger children with ASD have enlarged brain volumes, and adults with ASD have
decreased brain volumes. Therefore, the misdiagnosis of autism is not caused by age as it can be a
useful indication of the disorder.

In conclusion, age does not have a significant impact on the misdiagnosis of autism. In terms of
diagnosing older people, while some reports suggest the autism phenotype is expressed to a higher
degree in adolescents and adults, as their adaptive behaviour, and ability to camouflage their ASD
traits decreases, others suggest that general cognitive abilities and development of coping
strategies, a form of camouflaging, is also observed, thus autism is harder to diagnose as age
increases. In regards to diagnosing younger children, while some reports suggest diagnostic
instability and the lack of diagnostic criteria suitable for very young children, another report suggests
the ease of diagnosing children from ages less than 3 through to late childhood, justified by a further
investigation that signs of ASD are obvious in preschoolers, due to delayed speech milestones. The
only factor which does not provide conflicting conclusions is how the size of brain volume correlates
to misdiagnosis. Many sources agree on the same fact that in younger children, enlarged brain
volume is observed, however, this decreases with age, so perhaps it can be concluded that
misdiagnosis of autism increases with age, as on a neurological level, symptoms return to ‘normal’ as
an individual grows older.

Discussion

There has been a multitude of hypotheses made by scientific researchers, aiming to explain the
difficulty experienced by psychiatrists to identify ASD, which is apparent considering the breadth of
studies and experiments which have been used in this EPQ. The method used for drawing a strong
conclusion will be collecting data that provides evidence for the certain factor causing reported
misdiagnosis in real life, or a factor that has been reported by many or a variety of studies as a
prominent contributor. In terms of anxiety, the National Autistic Society posed a strong argument
that nearly half of the autistic population fit into the severe anxiety unit. Furthermore, the
prevalence of the three predictors of anxiety (atypical sensory function, alexithymia, and IU) poses
an interesting argument that although their existing in coherence is an obvious sign of ASD, it does
not take away from the fact that ASD can still be misdiagnosed for anxiety, due to their similar visual
symptoms and similar neurological responses, in terms of how an individual with SOR responds to
mildly aversive sensory stimuli. Therefore, anxiety is a rather strong candidate as we see it play its
role in misdiagnosis in real-life events, and the argument of the three concepts of anxiety being a
signpost for the diagnosis of ASD was abolished by multiple contradictions.

Comparing anxiety with OCD, what first stands out is the higher prevalence of individuals with
anxiety amongst the ASD population, as while OCD shows 17.4%, anxiety shows 47%. Therefore, it
can be concluded that misdiagnosis due to comorbid disorders is greater caused by anxiety.
Furthermore, while distinguishing between the similar traits of neurotypical anxiety and anxiety in
ASD is extremely difficult, there is a way of differentiating between traits of OCD and ASD, based on
the fact that people with OCD present relatively more compulsions and obsessions than autistic
people, and neurotypical OCD differs psychologically to autistic OCD. A way in which anxiety and
OCD relate is that both can be inherited or worsened by external factors, such as trauma, which is
similar to the way anxiety and obsessive behaviours in ASD can be worsened, therefore, as they both
originate in similar ways, they both equally contribute to the misdiagnosis of autism. Lastly, OCD and
comorbid OCD share the same pharmacological treatment, however, this is outweighed by the real-
life evidence that over 30% more ASD individuals suffer from comorbid anxiety than OCD, followed
by the fact that anxiety and ASD are much more similar and challenging to tell apart than OCD and
ASD, therefore, anxiety is a greater contributor to the misdiagnosis of ASD than OCD.

Before diving into the analytic aspect of this data, it is important to acknowledge the vast amount of
research and reports that were available discussing the effect of gender on the misdiagnosis of
autism, perhaps already indicating its importance on the matter. Almost all reports included in this
subtopic were found to support the idea that the misdiagnosis of ASD is more common in females.
Although there are variations in the male-to-female ratio of ASD prevalence, every ratio suggests
that the proportion of men with ASD is significantly higher than women. Due to a large array of
theories on how autism presents itself differently in females, regarding the female autism
phenotype, camouflaging, female protective theory, extreme male theory, improved linguistic
ability, a protective gene expressed across the X chromosome for women, and the role of
testosterone in the presentation of ASD characteristics, it can be concluded, due to the very small
number of against arguments, that gender differences is a massive cause of the misdiagnosis of
autism.

Regarding race and country, a particularly balanced argument was proposed here, in comparison to
gender differences. Beginning with diagnostic bias found in ADOS-2, which has been supported by
multiple other scientific reports, therefore this is a strong argument. Furthermore, two sources have
found that a lack of education in lower-income countries, leads to the misdiagnosis of autism,
especially in countries where a diagnosis is reliant on parental observations, as concerns culture and
societal standards overtake medical concerns, due to a lack of education and healthcare in these
countries, proposing a strong argument that developing countries contribute to the problem.
However, the argument becomes slightly less promising in regards to the most affected ethnic
group, because while some reports suggest Black children are least likely to diagnose, some suggest
there is no difference between the diagnosis of Black and White children, and two others suggest
Hispanic children are most likely to be misdiagnosed. Perhaps, more research is needed to be done
comparing the prevalence of autism across different ethnic groups, however, what can be
concluded, providing it has been backed up with a selection of strong, reliable evidence, is that the
misdiagnosis of autism is most likely in individuals from less developed countries.

For autism changing with age, again the varying studies, and contradicting information provided,
lead us to remain sceptical of how impactful age is on the problem. Studies in support of age being a
factor of misdiagnosis include, misidentification is most likely to occur when during childhood, as
individuals with ASD can more easily mask their atypical traits, which was supported by another
report suggesting ratings of ASD traits heightened with age. Another study for misdiagnosis found
that there is diagnostic instability and a lack of age-appropriate diagnostic criteria for young children,
therefore, backing the first two reports in a slightly different manner. All three of these reports
coincide with each other, linked by the idea that misdiagnosis of ASD is most common in young
children. On the other hand, two other studies found that autism is easier diagnosed at a younger
age, one suggesting even before the age of 3, and another explaining this is due to more obvious
complications in development in preschoolers, especially in areas of delayed speech. Lastly, a report
on brain volume in younger children with ASD supported the idea that ASD is easier identified at a
younger age, due to one of the most obvious symptoms of ASD being enlarged brain volume.
Comparing this chapter with the previous one, it follows a similar trend that some arguments are
backed up with lots of reliable data, however, others are rather contradictory. We cannot conclude
whether parents or children are easier to diagnose with ASD, due to the fact that there is a
multitude of reports suggesting either that ASD is more frequently misdiagnosed in children, or
others alternatively in adults. What we can conclude, as this argument has appeared more than once
in many other reports, is that ASD is easier diagnosed in children, on a neurological level, due to
enlarged brain volume, therefore this factor overall is a relatively smaller contributor to the
misdiagnosis of ASD, as we were only able to form one definite conclusion.

In conclusion, gender differences in ASD are the most significant factor which contributes to the
misdiagnosis of autism, as it was proposed with the least number of against arguments, and each
supporting theory appeared frequently, in multiple different reports, and a variety of sources, such
as podcasts, books, and Scholarly articles.

BIBLIOGRAPHY AND SOURCE EVALUATION

Works cited

All of the sources I have cited range from Scholarly articles, to NHS websites, to books and podcasts
as I feel a broad range of sources is vital for a thorough and all-seeing essay. All the sources are
either peer-reviewed or written by a highly-qualified author, thus I can be assured of their reliability.

Key: Name of author, website name, the title of the source, the date the source was published, URL
of the source, followed by evaluation of the source.

Scholarly Article/ Websites:

NHS, Great Ormond Street Hospital. (Feb, 2017). Web. Available from:
https://www.gosh.nhs.uk/conditions-and-treatments/conditions-we-treat/autism/ - very reliable as
Great Ormond Street is a part of the NHS Foundation Trust, and the NHS is UK’s national health
service, therefore this website is renowned and used all over the nation for reliable and
thoroughly-researched information. It is committed to the highest editorial and ethical standards
in the provision of all its content and related services. There is no need for bias in this website, as
it is not aiming to promote a specific idea, and it is a non-profit website, thus the information
provided is accurate and trustworthy.

Hahler, EM., Elsabbagh, M. SpringerLink. Autism: A Global Perspective. Curr Dev Disord Rep. (28 Dec,
2014). Web. Available from: https://link.springer.com/article/10.1007/s40474-014-0033-3#citeas –
is most likely very reliable as it is a peer-reviewed scholarly article, therefore, it includes high-
quality, scientific research. Eva-Maria Hahler and Mayada Elsabbahg, the authors of this article,
both work in the department of Psychiatry, Faculty of Medicine, at McGill University, Montreal,
Canada, therefore, they are well-experienced in the field of autism, thus their work is reliable.
They have both also published other articles, regarding the topic of autism, thus this article most
likely includes accurate information. The other author, Mayada Elsabbagh. Despite it not entirely
agreeing with other articles, suggesting alternative percentage for the prevalence of autism in the
global population, it overall fits the ranges provided in these articles, thus being the most
trustworthy percentage available.

Lewis, Laura Foran. The Nurse Practioner, Mental Health Matters. Identifying autism spectrum
disorder in undiagnosed adults. (Sept, 2018). Web. Available from:
https://journals.lww.com/tnpj/Citation/2018/09000/Identifying_autism_spectrum_disorder_in.3.as
px - This is a peer-reviewed scholarly article, thus is most likely reliable. Although it is not very
well-known the author, Laura Foran Lewis, is an assistant professor at the University of Vermont,
Department of Nursing, Burlington. In fact, she received the 2022 Best of the Journal of Obstetric,
Gynecologic, and Neonatal Nursing award for her article “Exploring the birth stories of women on
the autism spectrum”, therefore her articles are highly credible. I have also taken a statistic on the
prevalence of misdiagnosed cases of autism, which other articles and websites online seem to
closely agree with. Furthermore, the author disclosed no financial relationships related to this
article, therefore, it is not biased and the information is most likely accurate and reliable.

Sole-Smith, V. Parents. The history of autism. (23 Feb, 2018). Web. Available from:
https://www.parents.com/health/autism/the-history-of-autism/ - This article is less reliable as it is
not a scholarly article, and is less renowned. In fact, it states that all content on this website,
including medical opinion and any other health-related information, is for informational purposes
only and should not be considered to be a specific diagnosis or treatment plan for any individual
situation. Use of this site and the information contained herein does not create a doctor-patient
relationship. While this is true for almost all articles, it justifies the fact that perhaps the
information on this website has been adapted for exaggeration or awareness purposes. This is also
an award-winning online resource due to it being trustworthy, empathetic, and including
supportive information and inspiration for families. It aims to create an encouraging and upbeat
tone, thus we must remain sceptical of how accurate and scientific the information is. The author,
Virginia Sole-Smith, has published books of her own, however, these have been outside the field
of autism, and instead on body image and fatphobia, again aiming to create an inspirational tone.
Nevertheless, the information included in this article in my essay was useful, and the works of Leo
Kanner, which are highly documented all over the web, and other articles support this
information.

Fusar-Poli, L., Brondino, N. Politi, P. et al. Springer Link. Missed Diagnoses and misdiagnoses of adults
with autism spectrum disorder. (6 Sept, 2022). Web. Available from:
https://link.springer.com/article/10.1007/s00406-020-01189-w - This is a peer-reviewed article,
therefore, includes high-quality, scientific research. The language written in the article is
sophisticated and written to a high standard, therefore, seems very reliable. It was published fairly
recently, in 2020, therefore, the data seems up-to-date and therefore, very applicable to the time
frame of this essay. Laura Fusar-Poli, one of the authors works in the Department of Clinical and
Experimental Medicine, Psychiatry Unit, University of Catania, Catania, Italy, and as this article is
greatly concerned with experimental procedures and analysing data, her occupation seems greatly
linked to this article, therefore, the information is reliable.

NHS. Overview- Generalised anxiety disorder in adults. (5 Oct, 2022). Web. Available:
https://www.nhs.uk/mental-health/conditions/generalised-anxiety-disorder/overview/ - similar to
the Great Ormond Street website, this is the NHS website itself, and as it is UK’s national health
service, it is very renowned and used all over the nation for reliable and thoroughly-researched
information. It is committed to the highest editorial and ethical standards in the provision of all its
content and related services. There is no need for bias in this website, as it is not aiming to
promote a specific idea, and it is a non-profit website, thus the information provided is accurate
and trustworthy.