Seizure: European Journal of Epilepsy 104 (2023) 6–11

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Seizure: European Journal of Epilepsy

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Review

Identification of autism in cognitively able adults with epilepsy: A narrative

review and discussion of available screening and diagnostic tools
Martina Giorgia Perinelli a, Monique Cloherty b, *
a
Institute of Psychiatry, Psychology and Neuroscience, King’s College London, 16 De Crespigny Park, Denmark Hill, London SE5 8AF, United Kingdom
b
Epilepsy Centre, Clinical Neurosciences Department, Kings College Hospital, 4th Floor Ruskin Wing, Denmark Hill, London SE5 9RS, United Kingdom

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

Keywords: The recent NICE epilepsy Guideline (NG217; 2022) recommends that epilepsy professionals need to be alert to
Adult patients autism when considering mental health presentations, behavioural difficulties and as a marker for referral for
Autism diagnostic tools whole genome sequencing for those patients with epilepsy of unknown cause. However, this relies upon the
Autism screening tools
existence of valid autism screens for people with epilepsy (PWE). We found few studies of autism in cognitively
Autism spectrum disorder
able PWE. This represents an important gap in the literature. We describe different autism screening and
Epilepsy
diagnostic tools; two screening tools have been used specifically for adult PWE who are cognitively able (AQ,
SRS-AS). The AQ is more psychometrically robust, but there may be an overlap between these screening ques­
tions and questions relevant to some psychiatric disorders. Formal gold-standard diagnostic tools (module 4 of
ADOS-2, ADI-R or 3Di or 3Di-Adult) would benefit from studies of their application to cognitively able PWE.
More research is needed to understand the characteristics of autism in cognitively able PWE and to ascertain the
appropriate screening and diagnostic tools for this cohort.

1. Autism and epilepsy
1.1. Historical perspective
The relationship between autism and epilepsy has been studied for
more than fifty years, ever since Kanner’s observations in 1943 of
children with autism, where one child had a history of seizures and an
abnormal EEG [1]. The Diagnostic Statistical Manual – 5th Edition
(DSM-5; [2]) defines autism spectrum disorder as “persistent difficulties
with social communication and social interaction” and “restricted and
repetitive patterns of behaviours, activities or interests” (this includes
sensory behaviour). Symptoms must be present since early childhood, to
the extent that these “limit and impair everyday functioning”. It is
noteworthy that the diagnostic criteria for autism have widened over the
last twenty years and individuals with higher cognitive function and less
severe traits of autism would now be diagnosable under the current
criteria, potentially representing Simon Baron Cohen’s “lost generation”
whose autism may not have been previously detected. We use the term
‘autism’ in this article to refer to both autism and autistic spectrum
disorder (ASD).
Taft and Cohen made observations on the relationship between
infantile spasms and autism [3] and subsequent prevalence studies
showed that a significant proportion of children with infantile spasms
later developed autism [4]. Gillberg and Schaumann [5] highlighted the
close correlation between autism, epilepsy and intellectual disability
[5].
The epilepsy syndrome is a key indicator of the likelihood of co-
existing autism; autism is more frequent in individuals who have a
history of infantile spasms, but less common in those who have some
forms of later-onset epilepsy. This may be due to the developmental
sequelae of seizures early in life, that increase the risk for developing
autism as suggested by Saemundsen and collaborators [6–8]. Strasser,
Downes, Kung, Cross and Haan, [9], in their systematic review of
nineteen studies, found a pooled prevalence autism rate of 6.3% in
people with epilepsy (PWE). Just one year later, Lukmanji et al [10]
showed a median pooled prevalence of 9% but with a range of
0.60-41%. There were methodological differences across studies,
including epilepsy diagnosis, the presence and definition of intellectual
disability, the age at testing, the gender ratio, and the method and
criteria of autism diagnosis, with broadening diagnostic criteria for
autism after 2013. Nevertheless, the studies show an increased preva­
lence of autism in PWE.

* Corresponding author.
E-mail address: Monique.cloherty1@nhs.net (M. Cloherty).

https://doi.org/10.1016/j.seizure.2022.11.004
Received 9 June 2022; Received in revised form 4 November 2022; Accepted 6 November 2022
Available online 26 November 2022
1059-1311/Crown Copyright © 2022 Published by Elsevier Ltd on behalf of British Epilepsy Association. This article is made available under the Elsevier license
(http://www.elsevier.com/open-access/userlicense/1.0/).
M.G. Perinelli and M. Cloherty
PWE who have autism and intellectual disability can usually access
support through their learning disability service. However, a cohort that
has been historically neglected, are those who are cognitively more able.
They may fall between services; not cognitively disabled enough to meet
criteria for learning disability services from which they might benefit
and/or not having severe mental health difficulties to access to their
community mental health team (CMHT). Having a diagnosis of autism
may provide access to appropriate services or charities, greater under­
standing of the self and by others and so that reasonable adjustments are
made in service provision. However, identification relies upon the ex­
istence of valid autism screens for PWE.
1.2. Epilepsy and autism
It has been established that PWE with intellectual disability are more
likely to have autism. In a meta-analysis of twenty-four reports from
Amiet and collaborators [11], the prevalence of epilepsy was 21% in
patients with autism and intellectual disability, and 8% in people
without intellectual disability. Based on a systematic review of
twenty-one studies [12], a wider gap was noted, with an autism prev­
alence of 38.9% in the epilepsy population with intellectual disability
and 5.2% in those without intellectual disability. As these studies were
conducted before the broader DSM-5 diagnostic criteria of 2013, the
prevalence may well be higher in those diagnosed after 2013.
There is a dearth of studies analysing adult PWE with an IQ>80 who
have autism or features of autism [13], despite this population being
more ‘at risk’ than the general population [11]. Wakeford, Hinvest, Ring,
and Brosnan [14], examined autism traits in people with and without
epilepsy, neither of whom had been formally diagnosed with autism.
Autism traits such as difficulties in social skills, mental flexibility,
imagination, attention to detail and difficulties with communication
were surveyed by the Autism Spectrum Disorder Quotient (AQ; [15]). The
ability to make accurate social inferences was estimated using the
Intuitive Physics Test [16]. The Adult Eyes Task-Revised [16] was used to
assess the ability to correctly recognize facial expressions of emotion
from eyes. PWE produced higher scores than people without epilepsy,
suggesting they had more autism traits. There was no difference be­
tween the two groups on the Intuitive Physics Test and the Adult Eyes
Task-Revised tests. The authors [14] argue that this suggests that PWE
may have symptoms that resemble features of autism but with a
different aetiology.
The study was limited by the small sample size and use of only one
scale for measurement of autism characteristics (i.e., the AQ). The
follow-up study by Wakeford, Hinvest, Ring and Brosnan [17] evaluated
PWE using the Social Responsiveness Scale-Shortened (SRS-S) as a measure
of social ability and the Repetitive Behaviour Scale-Revised (RBS-R) as a
measure of restricted repetitive behaviours [18]. The results obtained
were consistent with the 2014 study [14]. PWE without a formal diag­
nosis of autism had a higher score on the SRS-S, indicating more diffi­
culties, compared to the control group. Moreover, they had more
difficulties with social responsiveness (as derived by SRS-S scores)
during self-perceived seizure activity. Repetitive behaviours on the
RBS-R were unimpaired. However, neither study thoroughly evaluated
autism with formal diagnostic tools such as the ADOS [19] and ADI-R
[20]. These tools are considered the “gold standard” in diagnostic
assessment for autism, particularly when combined with clinical judg­
ment. It is of interest that the PWE did not exhibit sameness, restricti­
ve/rigid and repetitive behaviours, suggesting that PWE may represent a
different phenotype. As the authors suggest, further studies are needed
to examine psychosocial factors and autism traits using different
screening and diagnostic tools on a large sample of PWE [17].
People with PWE frequently experience psychiatric disorders
including anxiety, depression, and obsessive-compulsive disorder (OCD)
[21]. Seizure location, and living with uncertainty and disability may
contribute [21]. Stigmatization, social isolation, and loneliness may be
confounders of autism diagnosis, due to their chronic effects on
7
Seizure: European Journal of Epilepsy 104 (2023) 6–11
communication and social interaction [22].
Females with epilepsy have been reported to have a higher rate of
autism [23] although this may be related to them being more likely to
have intellectual disability [23]. Other epilepsy syndrome factors that
may increase the risk of autism are focal epilepsy [24], presence of a
genetic syndrome [25] and the severe epileptic encephalopathies [26].
A timely and accurate diagnosis of autism is crucial to enabling PWE
to receive appropriate treatment and support [27]. It is imperative that
clinicians have access to appropriate screening tools to flag whether
further referral for diagnostic assessment is required. However, to date,
very few autism screens are validated in adult PWE. This paper will
describe the different screening and diagnostic tools that may be
considered.
2. Screening tools
2.1. Autism-Spectrum and Quotient (AQ; 28])
This is a self-rating questionnaire, published in 2001 by Simon
Baron-Cohen and his colleagues at the Autism Research Centre in Cam­
bridge, UK. The original extended version of the AQ includes fifty
questions divided into five subscales, each consisting of ten items that
investigate “domains of cognitive strengths and difficulties related to autism:
communication, social skills, imagination, attention to detail and attention
switching” [29]. Individuals respond to each of the items with one of four
choices: ‘definitely agree’, ‘slightly agree’, ‘slightly disagree’, and
‘disagree’. Responses are scored using a binary system [29]. The original
fifty item questionnaire takes ten minutes to complete while the
abbreviated version (AQ10) which retains the predictive validity, takes
two to five minutes. It is also available translated into several languages.
In a systematic review of the literature, Baghdadli, Russet and Mot­
tron [30] reviewed diagnostic and screening tools for autism in adult
patients without intellectual disability, analysing eighteen studies to
verify the validity of this tool. The internal consistency was analysed
using Cronbach’s alpha, to measure the reliability and to verify the
reproducibility over time of the results that psychometric tests provide.
In general, high-reliability values are to be considered for those from
0.70 upwards.
Sensitivity and specificity were assessed using the Quality Assessment
of Diagnostic Accuracy Studies (QUADAS-2) and the Consensus-based
Standards for the selection of health Measurement Instruments (COS­
MIN) checklist. They found evidence for internal consistency and
satisfactory test-retest reliability (r>0.70). The same values were also
verified for the shortened version of ten items (AQ-10).
Frequently used by general practitioners and brief to use, a disad­
vantage of the AQ-10 is the items may overlap between different
neurological or mental health disorders [30]. Furthermore, the scoring
is printed on the questionnaire; if patients can view this, it can bias their
responses. Nonetheless, the Wakeford [14] study found this a valuable
screening tool in adult PWE.
2.2. Ritvo Autism Asperger Diagnostic Scale - Revised (RAADS-R)
Ritvo et al. [31,32]. This questionnaire was originally a scale con­
sisting of 80 items measuring symptoms based on the DSM-4-TR and
ICD-10 [33]. This must be administered with the clinician [31] and takes
up to thirty minutes to complete. The authors report that RAADS-R is a
highly specific (100%) and sensitive (97%) instrument, useful as an
adjunct clinical diagnostic tool [31]. These results were confirmed by
further studies conducted in Sweden [34] and ten years later in France
[35].
Picot and collaborators [35] argue that as with any screening tool,
this instrument may give rise to false positives of autism and may not
discriminate enough from those with comorbid psychiatric disorders.
They argue that further studies are needed to assess the sensitivity and
specificity of the RAADS-R those with other psychiatric DSM-5
M.G. Perinelli and M. Cloherty
diagnoses such as obsessive-compulsive-disorder (OCD), social anxiety
disorder, severe personality disorder, and schizophrenia.
The same results were verified for the Ritvo Autism Asperger Diagnostic
Scale- 14 Screen (RAADS-14) [30]. The RAADS-14 has proven to be a
good screening tool as it maps onto the full version of RAADS-R, takes
less than five minutes to complete and is easy to score. However, as with
the full RAADS-R, no studies have analysed this tool in PWE.
2.3. Sensory Reactivity Scale (SR-AS)
Elwin et al. [36]. This self-report questionnaire surveys sensory
reactivity [36]. It reports good internal consistency and discriminatory
power, accurately distinguishing patients with autism from controls.
The authors comment that they did not acquire enough data to make
accurate conclusions regarding test-retest reliability. Accordingly, as the
authors suggest, due to the relatively small standardisation sample of
162, further studies are needed to establish the validity and reliability of
the SR-AS, with a greater number of patients in different clinical settings
[36].
2.4. Reading the Mind in the Eyes Test [16]
This cognitive test measures the ability to recognize facial expres­
sions from the eyes. Consisting of thirty-six black and white photos of
peoples’ faces, there are four possible answers: panicked, arrogant,
jealous or hateful, with only one being correct [16]. Farrant and col­
leagues [37] showed that PWE who also exhibit autism traits, demon­
strated an impairment of facial emotion recognition. The intellectual
ability of participants was not stated, which may have been a contrib­
utory factor in recognising complex emotions. It varies in its completion
time, taking from two to twenty minutes to complete, with people with
autism generally taking longer to complete the test.
2.5. Gazefinder [38]
Reduced eye gaze has been noted in adults with autism [39]. Gaze­
finder is purported to be a clinical supplementary measure to distinguish
autism; in the 2016 study Gazefinder measured the percentage of eye
fixation time allocated to objects or people depicted in movies, in
twenty-six patients with autism and thirty-five age-matched males with
typical development. The participants’ eye positions were examined
using infrared light. The group of patients with autism gazed less at eyes
in human face stimuli than the control group. From the analyses carried
out in this research, Gazefinder results measure the single gaze fixation
pattern. However, it does not predict the degree of social deficit. Further
studies are necessary, because, although it has high sensitivity and
specificity, Gazefinder measures only a part of the wide range of autism
traits. Furthermore, patients with psychiatric disorders may also have
low gaze fixation. It will be necessary to examine Gazefinder in PWE
who present with autism traits and different mental psychiatric condi­
tions to identify its specificity.
2.6. Adult Social Behaviour Questionnaire (ASBQ)
Kan et al. [40]. This questionnaire is adapted from the Children Social
Behaviour Questionnaire, and is designed to quantitatively measure
autism traits in adult patients. It consists of ‘self’ and ‘other’ reports for
relatives, friends, or people who know the patient well. The forty-four
questions are in line with DSM-5 criteria for the diagnosis of autism
and shows good discrimination properties [30]. However, Horwitz,
Schoevers, Ketelaars, Kan et al [40] comment that diagnostic validity
was limited, as the gold standard module 4 of the ADOS-2 was not used
to reliably identify autism. However, it presents good data on structural
validity and intermediate internal consistency. As pointed out in the
study: “as a questionnaire it is not intended for purposes of diagnostic
classification on its own, but rather as one of the sources to assist clinicians in
8
Seizure: European Journal of Epilepsy 104 (2023) 6–11
the diagnostic and assessment process of ASD in adults” [40]. We did not
find studies of its use with adult PWE.
2.7. Adult Repetitive Behaviours Questionnaire-2 (RBQ-2A; [18])
This self-report screening questionnaire consists of 20 items derived
from the Diagnostic Interview for Social and Communication Disorders
(DISCO; [41]). It surveys one of the core diagnostic features of autism;
that of restricted and repetitive behaviours. It is divided into insistence
on sameness, such as finding comfort in routines and consistency and
repetitive motor behaviours. It takes five to ten minutes and is suitable
for those with average or higher intelligence. Barrett and collaborators
[18] found that those with autism scored higher than the control group.
A good internal consistency was confirmed, and the results obtained
supported its diagnostic capabilities with further validity confirmed
[42]. However, clinical experience suggests people with psychiatric
conditions such as anxiety and obsessive-compulsive disorder (OCD)
may score higher on this scale. Further research is required to examine
its validity in PWE and its discriminative properties with psychiatric
conditions.
2.8. The Social Responsivenes Scale for Adults (SRS-A; [43])
This questionnaire surveys social responsiveness and social behav­
iour in individuals aged 19 to 89 and can be used as a self or other report.
It comprises 65 items related to five domains: social awareness, social
information processing, capacity for reciprocal social communication, social
anxiety/avoidance, and autistic preoccupations and mannerisms. In subse­
quent studies conducted in 2012 and 2014 by Bölte and Takei, the values
of sensitivity and specificity were satisfactory, over 0.80. In the Wake­
ford study [17] the shortened version of the scale (SRS-AS) was used to
verify autism features in PWE, with higher scores found in PWE than in
controls. More validation studies in adult PWE are needed.
3. Diagnostic tools
3.1. Adult Asperger Assessment (AAA [44])
This face-to-face interview consists of four Sections (A–D), each
describing a group of autism features presented in the DSM-4. Section A
of the AAA is “Qualitative impairment in social interaction”; Section B is
“Restricted, repetitive and stereotyped patterns of behaviour, interests and
activities”; Section C, “Qualitative impairments in verbal or non-verbal
communication”, and Section D, “Impairments in imagination”. Each
area is probed by the clinician, in order to collect a range of examples
from self and/or other report. It also includes two self-report question­
naires: The Autism Spectrum Quotient (AQ) and the Empathy Quotient
(EQ). In a systematic review of the literature ([30] its validity is
confirmed with a sensitivity =of 0.92 and a specificity = 1.00. We could
not find application of this tool to PWE in the literature.
3.2. Autism Diagnostic Observation Schedule 2/ module 4 (module 4 of
ADOS-2) [45]
Considered to be the gold standard to reliably identify autism, the
ADOS is an observational face-to-face assessment involving the clinician
spending time interacting with the patient. It requires specific training
and attendance at reliability coding sessions. It can take an hour or just
over to complete. Kupper, Stroth, and collaborators [46] described the
tool as follows: “the ADOS is a standardized semi-structured diagnostic
observational schedule (interview and interaction between the patient and the
clinician) designed to assess important social-communicative behaviours as
well as stereotypic and repetitive behavioural features”. The ADOS includes
four different modules for different age and language levels. For each
module, there is a diagnostic algorithm for the classification of autism or
non-autism [46]. Baghdadli, Russet and Mottron [30] reported that
M.G. Perinelli and M. Cloherty Seizure: European Journal of Epilepsy 104 (2023) 6–11

Table 1
Screening instruments.
Screening Instruments Authors Strengths Weaknesses Use in adult Methods of assessment
PWE?

Autism-Spectrum Quotie (AQ
and AQ-10)
Ritvo Autism Asperger Diagnostic
Scale – Revised (RAADS-R
and RAADS-14)
Sensory Reactivity Scale (SR-
AS)
Adult Social Behaviour
Questionnaire (ASBQ)
Adult Repetitive Behaviours
Questionnaire-2 (RBQ-2A)
The Social Responsiveness Scale
for Adults (SRS-A)
[28] High internal consistency and test-retest Possible overlapping between Yes Self-report questionnaire
reliability. autism and other neurological or (2–5 min)
Valuable screening tool in adult patients with psychiatric conditions
epilepsy without intellectual disability Scoring on the patient form may
Available in several languages bias responses
AQ10 is brief
[32, Good reliability and diagnostic validity in Autism misdiagnoses and the No Interaction with the
31] different populations (Sweden and French) questions may overlap with patient (30 min of
psychiatric disorders assessment)
[36] High internal consistency (0.96), accurately Test-retest reliability data needed No Questionnaire –
distinguishes between patients with autism and informant 15–20 min
other comorbid mental disorders
[40] In line with the DSM-5 diagnostic system; Good Not clear if it reliably maps onto No Questionnaire 5-10 min
data on structural validity and internal autism diagnosis
consistency; good discrimination properties
[18] Good internal consistency and diagnostic Low discrimination properties No Questionnaire 5-10 min
validity between autism and OCD or
anxiety disorder
[43] High sensitivity and specificity; satisfactory Moderate evidence for test-retest Yes – shortened Questionnaire 10 min
diagnostic data; reliability. version SRS-S shorter version 5 min
Low discrimination properties.

internal consistency and discriminant validity for module 4 of the
ADOS-2 were satisfactory; however, these data are limited as only the
COSMIN checklist was used.
There have been several analytical studies of the module 4 of the
ADOS-2 ([47,48]). Nevertheless, sensitivity and specificity appear to
vary depending on the studies and methodologies used to verify its
validity. To date, no studies have addressed this tool in adults PWE and
verifying its use with adult PWE will be essential.
3.3. The Autism Diagnostic Interview Revised (ADI-R; [49])
The ADI-R is a structured informant interview, obtaining a full range
of past and current information to diagnose autism. It requires specific
training and can take 1-2 h to complete. It was designed to be used in
conjunction with the Autism Diagnostic Observation Schedule 2 (ADOS-
2). The ADI-R focuses on the systematic and standardized observation of
behaviours rarely found in non-clinical subjects, and mainly on three
areas of functioning: language and communication, mutual social
interaction, stereotypical behaviours and narrow interests. The ADI-R is
divided into an interview protocol and five algorithms, which can be
used at different ages and is recommended by the NICE No. CG142
autism guidelines (2012) “To aid more complex diagnosis and assessment
for adults, consider using a formal assessment tool, such as: ADI-R”. Further
validation studies in adult PWE are required.
3.4. The Asperger Syndrome (High Functioning Autism) Diagnostic
Interview (ASDI) [50]
The ASDI is a brief structured interview for informants. It consists of
twenty open-ended questions divided into six broader areas of autism
characteristics. The clinician needs to have a comprehensive develop­
mental and clinical history of the patient to conduct the interview. A
study conducted by Gillberg, and collaborators [50] reported: that
“inter-rater reliability and test-retest stability may be excellent, with kappa’s
exceeding 0.90 in both instances” [50]. This is a shorter interview than
others, Further validation studies are needed in adult PWE.
3.5. Developmental, Dimensional and Diagnostic Interview (3Di; [51])
and the adult version 3Di-adult; [52])
The 3Di is a standardized, diagnostic tool which can be used face-to-
face or as a telephone interview. It is an informant report to identify
autism in children and adolescents and it has an adult version 52]. It is a
collaborative interview to clarify responses and requires specific

Table 2
Diagnostic instruments.
Diagnostic Instruments Authors Strengths Weaknesses Use in Methods of assessment
adult
PWE?

Adult Asperger Assessment
(AAA)
Autism Diagnostic Observation
Schedule Module 4 (ADOS-4)
The Autism Diagnostic Interview
Revised (ADI-R)
The Asperger Syndrome (High
functioning autism)
Diagnostic Interview (ASDI)
Developmental, Dimensional
and Diagnostic Interview (3Di
and 3Di-Adult)
[44] Two self -questionnaire AQ and Empathy Quotient; Low discrimination properties No Questionnaire and in
high sensitivity and specificity between autism and comorbid interview with the patient (3
psychiatric conditions h of direct interview)
[45] Consist of different level for age and language; good Sensitivity and specificity No Interview and interaction
discrimination properties between autism and variability with the patient (1 hr or just
other psychiatric conditions; good internal over)
consistency
[49] Observation of behaviours that are difficult to find Overlapping properties between No Interview with the patient (1-
in non-clinical subjects; suitable for those without autism and comorbid psychiatric 2 h of assessment)
intellectual disability conditions
[50] Good inter-rater reliability and good diagnostic Overlapping properties between No Informant structured
validity autism and comorbid psychiatric interview (30 min)
conditions
[51,52] Excellent test-retest reliability and validity; good Translation and validation in No Interview with the patient (1
discrimination properties other cultures needed h)

9
M.G. Perinelli and M. Cloherty
training. It can take from thirty minutes to an hour to complete. It is
recommended to use alongside a specific diagnostic tool such as the
module 4 of the ADOS-2. Studies in 2004 [51], in 2018 [52], and
confirmed in 2020 [53] showed good test-retest reliability, current
validity and discriminative power. This diagnostic tool has never been
used in PWE. As reported by Mandy et al [52] the “Translation and
validation of the 3Di-Adult in other cultures will provide a reliable, valid, and
resource-efficient way in helping the lost generation of adults with ASD who
are currently lacking a formal diagnosis and therefore appropriate treatment”
[52].
Tables 1 and 2 show tools for cognitively able PWE with strengths,
weaknesses and relevant studies.
4. Integration and critical analysis
The gold standard tools for screening and formally diagnosing autism
in cognitively able adult patients reported in the NICE (CG142; 2012)
[54] guidelines are the Autism Spectrum Quotient (AQ), the Ritvo Autism
Asperger Diagnostic Scale-Revised (RAADS-R), the Adult Asperger Assess­
ment (AAA), the Autism Diagnostic Observation Schedule 2 Module 4
(module 4 of the ADOS-2), the Autism Diagnostic Interview-Revised
(ADI-R), and the Asperger Syndrome (High functioning Autism) Diagnostic
Interview (ASDI). We could only find studies using the AQ with adult
PWE. It should be noted that the AQ is a screen for autism symptoms and
is not formally diagnostic. Other tools that may be useful are the Sensory
Reactivity Scale (SR-AS), the Reading the Mind in the Eyes Test, the Adult
Social Behaviour Questionnaire (ASBQ), the Adult Repetitive Behaviour
Questionnaire-2 (RBQ -2A), the Social Responsiveness Scale for Adults
(SRS-A) and the Developmental, Dimensional and Diagnostic Interview
(3Di- and 3Di-Adult). Of these, the Social Responsiveness Scale (shortened
version SRS-AS) described specific use in adult PWE, but further
research is needed. To date, the formal gold standard diagnostic tools
(module 4 of the ADOS-2, ADI-R or 3Di or 3Di- Adult) would benefit
from being applied specifically to cognitively able PWE to check their
feasibility and acceptability.
Considering the strong association epilepsy and autism can have
with psychiatric disorders such as anxiety and depression, screening and
diagnostic tools must be capable of discriminating between these con­
ditions. Of the tools we identified, the Sensory Reactivity Scale (SR-AS),
the Adult Social Behaviour Questionnaire (ASBQ), the Autism Diagnostic
Observation Schedule 2 Module 4 (module 4 of the ADOS-2) and the
Developmental, Dimensional and Diagnostic Interview (3Di) have been
found to accurately discriminate between ASD and other comorbid
psychiatric disorders. Further studies are needed to examine the test-
retest reliability of the Sensory Reactivity Scale, the diagnostic validity
of the Adult Social Behaviour Questionnaire (ASBQ), and sensitivity and
specificity of the module 4 of the ADOS-2.
5. Limitations
This narrative review is limited in its search of only English and
Italian articles. Few studies examine autism in cognitively able PWE,
and the studies used small, heterogeneous populations and different
methods. Importantly this also prohibits stratifying results by clinical
characteristics.
6. Conclusion
Cognitively able PWE may represent a patient cohort that has been
historically neglected from a diagnosis of autism but the high rate of
psychiatric conditions in PWE may be confounders for diagnosis. Ac­
curate identification relies on the existence of valid autism screens for
use with PWE. We identified two screening tools used with cognitively
able PWE (AQ, SRS-AS). The AQ is more psychometrically robust but
there may be an overlap between these screening questions and ques­
tions relevant to some psychiatric disorder, other screening tools such as
10
Seizure: European Journal of Epilepsy 104 (2023) 6–11
the RAADS-14 may be valuable and validation of their use in PWE is
needed. Formal gold standard diagnostic tools (module 4 of the ADOS-2,
ADI-R or 3Di or 3Di-Adult) would benefit from studies of their appli­
cation to cognitively able PWE. More research is needed to shed light on
the characteristics of autism in cognitively able PWE and to validate
appropriate screening and diagnostic tools in this cohort.
Funding
This research did not receive any specific grant from funding
agencies in the public, commercial, or not-for-profit sectors
Declaration of Competing Interest
The authors whose names are listed immediately below certify that
they have NO affiliations with or involvement in any organization or
entity with any financial interest (such as honoraria; educational grants;
participation in speakers’ bureaus; membership, employment, consul­
tancies, stock ownership, or other equity interest; and expert testimony
or patent-licensing arrangements), or non-financial interest (such as
personal or professional relationships, affiliations, knowledge or beliefs)
in the subject matter or materials discussed in this manuscript.
Acknowledgments
The authors are extremely grateful for the support of Dr Lina Nashef
Consultant Neurologist from the Neurology Department, Kings College
Hospital for insightful discussions about the project and for many useful
suggestions.
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