Clinical practice guidelines for diagnosis of autism spectrum disorder in adults and children in the UK: a narrative review

 
Hayes et al. BMC Psychiatry (2018) 18:222
https://doi.org/10.1186/s12888-018-1800-1

 REVIEW                                                                                                                                           Open Access

Clinical practice guidelines for diagnosis
of autism spectrum disorder in adults
and children in the UK: a narrative review
Jennie Hayes* , Tamsin Ford, Hateem Rafeeque and Ginny Russell

  Abstract
  Background: Research suggests that diagnostic procedures for Autism Spectrum Disorder are not consistent across
  practice and that diagnostic rates can be affected by contextual and social drivers. The purpose of this review was
  to consider how the content of clinical practice guidelines shapes diagnoses of Autism Spectrum Disorder in the
  UK; and investigate where, within those guidelines, social factors and influences are considered.
  Methods: We electronically searched multiple databases (NICE Evidence Base; TRIP; Social Policy and Practice; US
  National Guidelines Clearinghouse; HMIC; The Cochrane Library; Embase; Global health; Ovid; PsychARTICLES;
  PsychINFO) and relevant web sources (government, professional and regional NHS websites) for clinical practice
  guidelines. We extracted details of key diagnostic elements such as assessment process and diagnostic tools. A
  qualitative narrative analysis was conducted to identify social factors and influences.
  Results: Twenty-one documents were found and analysed. Guidelines varied in recommendations for use of diagnostic
  tools and assessment procedures. Although multidisciplinary assessment was identified as the ‘ideal’ assessment, some
  guidelines suggested in practice one experienced healthcare professional was sufficient. Social factors in operational,
  interactional and contextual areas added complexity to guidelines but there were few concrete recommendations as to
  how these factors should be operationalized for best diagnostic outcomes.
  Conclusion: Although individual guidelines appeared to present a coherent and systematic assessment process, they
  varied enough in their recommendations to make the choices available to healthcare professionals particularly complex
  and confusing. We recommend a more explicit acknowledgement of social factors in clinical practice guidelines with
  advice about how they should be managed and operationalised to enable more consistency of practice and
  transparency for those coming for diagnosis.
  Keywords: Autism spectrum disorder, Diagnosis, Clinical guideline, Narrative review, Social factors, Diagnostic
  uncertainty, Clinical judgement

Background                                                                             diagnosis may also have symptoms of other conditions
The diagnosis of autism poses particular challenges for                                such as epilepsy, learning disability or sleep disorders, for
healthcare professionals (HCPs) as, in common with other                               example, complicating diagnosis further, with some argu-
neurodevelopmental disorders and most psychiatric disor-                               ing for a de-compartmentalisation of these conditions in
ders, there are no biomarkers utilised in clinical practice                            younger children [5]. The ‘gold standard’ of diagnosis is
[1–3]. In addition, the condition is heterogeneous, with                               considered to be consensus agreement within a
wide ranging levels of severity and symptom expression                                 multi-agency team [6, 7]. However, negotiating consensus
and characteristics common to autism may occur in                                      between HCPs with different training, professional roles,
people with other conditions [4]. Those coming for                                     experience and knowledge can be challenging and time
                                                                                       consuming. Finally, a review of the accuracy, reliability,
* Correspondence: Jennie.Hayes@exeter.ac.uk
                                                                                       validity and utility of reported diagnostic tools and assess-
University of Exeter Medical School, St Luke’s Campus, University of Exeter,           ments found that many diagnostic instruments for autism
Exeter EX1 2LU, UK

                                         © The Author(s). 2018 Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0
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Hayes et al. BMC Psychiatry (2018) 18:222                                                                          Page 2 of 25

lack a high-quality independent evidence base [6]. For ex-        prevalence [17], contrasting with the US where higher
ample, only three instruments - the Autism Diagnostic             SES and parental education is linked to increased likeli-
Observation Schedule (ADOS), Autism Diagnostic Inter-             hood of diagnosis [14, 18]. Research also suggests that
view Revised (ADI-R) and the Childhood Autism Rating              people with autism from Black, Asian and Minority
Scale (CARS) - had a strong supporting evidence base [6].         Ethnic (BAME) communities are less likely to be
   Given the potential challenges, clinical practice guide-       diagnosed with autism or access appropriate services
lines (CPGs) perform an important role in informing HCPs          [19] despite research which shows that behaviours
of best practice. CPGs are ‘systematically developed state-       associated with autism are likely to be consistent across
ments to assist practitioner and patient decisions about ap-      cultures and countries [20].
propriate health care for specific clinical circumstances’ [8].      Prior to diagnosis, social factors can also determine
National CPGs in the UK help to provide evidence-based            who comes forward for diagnosis and who is referred for
recommendations to support Autism Strategies and Action           further assessment. Research examining a longitudinal
Plans [9] and form the guidance framework for HCPs                UK cohort study identified that with the severity of aut-
undertaking assessment and diagnosis of autism in the UK.         istic traits held constant, younger mothers and mothers
In addition to CPGs produced by specialist, government            of first-born children were significantly less likely to have
supported healthcare associations, for example, the               children diagnosed with ASD [21]. In addition, boys
Scottish Intercollegiate Guidelines Network (SIGN) [10],          were more likely to receive a diagnosis than girls, and
professional clinical bodies also publish discipline-specific     maternal depression was linked with a lack of diagnosis
practice parameters or position papers, for example, the          [21]. These findings suggest both cultural and economic
Royal College of Psychiatrists (RCPsych) [11].                    influences impact the diagnostic pathway.

Social factors                                                    Biomarkers in autism diagnosis
Although CPGs aim to inform diagnostic practice, re-              There is a great deal of research that explores the under-
search suggests that diagnostic and assessment procedures         lying neurobiological, genetic, chemical and cognitive
vary in practice [9]. Diagnosis is dependent on observing         factors that may, in future, provide biomarkers which
socially-based behaviours that are arguably not necessarily       could be utilised in autism diagnosis (see [22] for a review
characteristic of the person under assessment but arise           of genetic, metabolic and brain focused biomarkers). For
from two-way social relationships and social context.             example, a recent research study has identified a link be-
Assessment mechanisms include drawing information                 tween damage to proteins in blood plasma and autism
from a range of sources, including clinician observation,         symptoms [23]; while another found shared brain activity
reporting from family members and wider contexts such             between boys diagnosed with ASD and those with
as school or workplace. This means that assessments are           obsessive-compulsive disorder (OCD) which in turn dif-
contextual and inter-relational and symptoms may change           fered from a non-diagnosed control group [24]. However,
according to context or interpersonal relationship, making        it has been argued that the heterogeneous and interactive
different assessment sources potentially contradictory.           nature of autism symptoms makes the identification of
  Some studies show that social factors such as individ-          clinically useful biomarker tests problematic [25]. Further-
ual patient preference, availability of resources or local        more, findings from biomarker research have yet to be
organisational factors can shape diagnostic practice, in,         integrated with clinical practice and none currently have
for example, heart disease [12]. Studies in autism have           enough evidence to support routine clinical use [22]. For
also shown how diagnostic rates can be affected by                the foreseeable future, therefore, these developments are
contextual and social drivers, such as diagnostic re-             unlikely to change diagnostic practice [26].
sources [13] or diffusion of information about autism
through social networks [14]. Where there is diagnostic           Purpose of the review
uncertainty clinicians may ‘upgrade’ to a diagnosis of            Although a few studies have begun to explore health
autism if they believe it would be in the best interests of       professionals’ views of autism diagnosis [16, 27, 28], to
the patient; if the diagnosis would trigger appropriate           our knowledge there are few studies that examine how
services and funding; or counteract the limitations of            clinical guidelines may inform assessment. One excep-
diagnostic tools, particularly in atypical presentations          tion is a recent systematic review of English speaking
[15, 16]. It seems, in practice, clinicians may adopt a           guidelines undertaken by Penner et al. [29] which
pragmatic, practical or functional approach.                      reported that guidelines varied considerably in quality,
                                                                  content and recommendations but included guidelines
Socio-economic and cultural factors                               working across incomparable health systems in different
Research has shown that lower social economic status              countries. We therefore carried out a focussed narrative
(SES) is associated with increased parent-reported                review of guidelines that impact on UK-based practice.
Hayes et al. BMC Psychiatry (2018) 18:222                                                                                           Page 3 of 25

Penner et al. suggest that in the face of disparate clinical              process of diagnosis to a greater or lesser extent and for
guidance clinicians should ‘be mindful of local resources                 the purposes of this study all were included under the
and wait times, eligibility requirements for ASD ser-                     term clinical practice guidelines.
vices…and the wishes of families when deciding on how
best to assess for ASD’ [29]. Our narrative review re-                    Identification of CPGs
sponds to this call for a pragmatic approach by investi-                  We did not set out to undertake a comprehensive sys-
gating where, within guidelines, social factors and                       tematic review, as it was not a requirement of our study
influences such as those suggested are considered.                        that we consider risk of bias either within or across
                                                                          studies [30]. However, we took a PRISMA approach to
Method                                                                    our search strategy, borrowing from systematic review
Scoping search                                                            methodology in terms of screening titles and abstracts
A scoping search was undertaken to check there was no                     and data extraction techniques [31]. A systematic search
similar review published. A search was made in the fol-                   was conducted in June 2017 using the following data-
lowing databases; PsychARTICLES; Embase; Global                           bases: NICE Evidence Base; TRIP; Social Policy and
health; HMIC; Ovid (books; medline; journals); Psy-                       Practice; US National Guidelines Clearinghouse; HMIC;
chINFO; Social policy and practice. One relevant article                  The Cochrane Library. In addition, searches were made
was retrieved [29], as discussed above.                                   of government related websites and relevant professional
                                                                          bodies as well as NICE and SIGN. We used the follow-
Inclusion and exclusion criteria                                          ing search terms to search all databases and websites:
Full inclusion and exclusion criteria are in Table 1.                     ‘autism’, ‘diagnosis’, ‘guidance’, ‘statutory’, ‘clinical’, ‘practice’,
Whilst we took a broad approach to CPGs, including,                       ‘guideline’, ‘protocol’, ‘strategy’, ‘policy’, ‘bill’, ‘act’, and ‘par-
for example, journal articles summarizing national CPGs                   ameter’. A full search strategy is in Fig. 1.
and the diagnostic process, as well as national CPGs, the
researchers acknowledge that each of these type of                        Study selection
guidelines have different purposes (see Table 2). How-                    The first reviewer (JH) removed duplicates and screened
ever, we argue that each may have an impact on HCP’s                      titles for relevance. Full text copies of the potentially rele-
                                                                          vant documents were downloaded for screening. The first
Table 1 Inclusion and Exclusion Criteria                                  reviewer screened full text documents and excluded those
Inclusion Criteria                                                        not relevant. The remaining titles were independently
  Documents with guidance-based status for HCPs working in secondary      checked by the clinical specialist (TF) using pre-specified
  care in the UK; or were published papers, aimed at HCPs, with the aim   inclusion/exclusion criteria (outlined in Table 1). Discrep-
  of reviewing CPGs
                                                                          ancies were resolved by discussion, with involvement of a
  Documents related to autism diagnosis and assessment for either         third reviewer (GR). Twenty-eight documents were
  children, adults or both
                                                                          considered for analysis, with seven being withdrawn at full
  Documents produced either by or through government or                   analysis stage. See Fig. 2 for full details.
  professional clinical bodies or published in a journal aimed at HCPs
                                                                             Guidelines from the International Classification of
  Documents related to diagnosis and assessment in UK (England,
  Scotland, Wales and N Ireland)
                                                                          Mental and Behavioural Disorders (Tenth edition)
                                                                          (ICD-10) [32] and the Diagnostic and Statistical Manual
  Documents dated from 2009 (reflecting publication of the first UK
  specific Autism Act) or were the most recent CPG published by a key     of Mental Disorders (Fifth edition) (DSM-5) [33] were
  professional body                                                       considered alongside UK relevant guidelines as they are
                                                                          considered authoritative sources for the definition of
Exclusion Criteria                                                        symptoms utilized in autism diagnosis, as well as other
  Documents related solely to referral, treatment, prognosis or support   neurological conditions.
  services
  Reviews of diagnostic criteria and other academic papers                Data extraction
  Guidelines related to primary care as we were interested in diagnosis   A data extraction framework was created to draw key
  rather than referral                                                    characteristics from the guidelines (year, author, geo-
  Narrative reviews, editorials and opinions                              graphical remit, target audience, age range, range of
  Documents related to parliament or legislature; national or regional    diagnoses covered, age at which symptoms are recog-
  strategies as they are not the primary source for clinicians            nised, diagnostic criteria referred to); as well as key ele-
  Local guidance                                                          ments in the diagnostic process (recommended tools,
  Guidance provided by private providers of diagnostic services
                                                                          role and composition of the multidisciplinary team
                                                                          (MDT), who can diagnose, assessment targets and key
  International professional body guidelines (other than ICD/DSM)
                                                                          features of assessment). This framework was piloted with
Hayes et al. BMC Psychiatry (2018) 18:222                                                                                                  Page 4 of 25

Table 2 Purpose of Diagnostic Guidelines
Type of guideline              General purpose of type of guideline
Diagnostic Criteria            To assist clinicians in the diagnosis of mental conditions by providing descriptions of the main clinical features in
                               each category
National Clinical Guidelines   To offer best practice advice and guidance for professionals and service users and their families
Guidelines from Professional   To offer profession specific advice to clinicians and healthcare professionals in their specialist area
Bodies
Journal Articles               To summarise clinical guidelines in clinician-facing publications to keep clinicians up to date and/or alert them to
                               changes in good practice

four reviewers (JH, GR, RW and DE) in a comparison of                         economic forces – contribute to shaping aspects of the
analysis of three guidelines. The framework was                               diagnostic process including those related to classification,
amended accordingly and is included in Additional file 1.                     the consequences of diagnosis and the process of diagnosis
Data were independently extracted by two reviewers (JH                        itself [36]. Overall, a social model challenges the idea of
and HR) from 21 CPGs and disagreements were resolved                          diagnosis as ‘a moment of clinical purity’ [37] or as a way
by discussion and further checks. Data were tabulated                         simply to identify underlying biological problems. We in-
and analysed.                                                                 cluded factors that were relevant to multidisciplinary work-
                                                                              ing or parental/family influence (the process of diagnosis);
Analysis of social factors                                                    the potential outcomes of diagnosis for the patient and how
A modified form of narrative review, as described by                          HCPs may take this into account (the consequences of
Popay et al. [34] and Ferrari [35], was adopted whereby                       diagnosis); and how issues around classification shape the
data extraction enabled synthesis of key data, whilst also                    diagnostic process such as how borderline cases are dealt
allowing rich narrative description [35]. Narrative review                    with (diagnosis as a category). This was a dynamic process
was selected as it enabled the telling of the ‘story’ of                      whereby data extracts were considered in relation to each
CPGs, and consideration of how guidelines, as a set of                        other via conceptual mapping and clustering [34].
texts, shape diagnosis [34].
  A process of inductive analysis was undertaken based                        Terminology
on social factors and influences. These were defined, for                     For the purposes of this review and in line with the Aut-
the purpose of this review, as contextual factors that in-                    ism Strategy [38] we use the term ‘autism’ throughout.
fluence diagnosis but are not based on symptoms of aut-
ism. We drew from the concept of a social model of                            Results
diagnosis as developed by Jutel and Nettleton [36]. This                      Characteristics of guidelines
model considers how diagnostic classifications and med-                       A total of 236 documents were retrieved, and 21 were
ical diagnoses are socially created and how social forces                     included in the final narrative review (see Table 3 for full
– including technological, professional, cultural and                         list of included documents and guideline characteristics).

 Fig. 1 Full Search Strategy
Hayes et al. BMC Psychiatry (2018) 18:222                                                                  Page 5 of 25

 Fig. 2 Study selection flow diagram

The documents studied are grouped into four types: a)          Of those, two guidelines were international but key to
International Diagnostic Criteria (n = 2); b) National         diagnostic practice in the UK (ICD-10 and DSM-5),
Clinical Guidelines (n = 5); c) Journal articles that          five related to the UK as a whole, five to England and
summarize National Clinical Guidelines and the diag-           Wales, one to Scotland, two to Northern Ireland and
nostic process, published in key clinical journals (n = 10);   one to outside the US and Canada (and therefore in-
d) Guidelines from professional bodies (n = 4). It should      cluded the UK). Five guidelines did not specify a geo-
be noted that journal articles, in some cases, are de-         graphical remit but were published in the UK in
signed to give an update rather than a full guideline          clinician-facing journals. All guidelines were aimed at
therefore the lack of detail in some areas should not ne-      HCPs, with six aimed at particular specialist roles
cessarily be seen as a weakness.                               that included psychiatrists, psychologists, speech and
  Of the 21 guidelines considered, six dealt with diagno-      language therapists, community practitioners and
sis of adults, seven with children and eight with all ages.    paediatricians.
Hayes et al. BMC Psychiatry (2018) 18:222                                                                                                    Page 6 of 25

Table 3 Key characteristics of guidelines
Title          Year Author(s)       Publisher/        Geographical    Target             Age        Range of         Diagnostic        Age at which
                                    Journal           remit           audience           range      diagnoses        criteria          symptoms are
                                                                                                    covered          referred to       recognised
DIAGNOSTIC CRITERIA
The ICD-10     1993 N/A             World Health      International   Clinical,          All ages   Pervasive        N/A               Before age of
Classification                      Organisation                      educational                   development                        3 years
of Mental and                                                         and service                   disorders                          (childhood
Behavioural                                                           use                                                              autism); after age
Disorders:                                                                                                                             3 (atypical
clinical de-                                                                                                                           autism).
scriptions and
diagnostic
guidelines
[32]
Diagnostic      2013 N/A            American          International   Clinicians,        All ages   Autism           N/A               During 2nd year
and Statistical                     Psychiatric                       students,                     Spectrum                           of life (12–
Manual of                           Association                       practitioners,                Disorder                           24 months) or
Mental                                                                researchers                                                      earlier than
Disorders                                                                                                                              12 months if
(Fifth Edition)                                                                                                                        developmental
[33]                                                                                                                                   delays are severe
NATIONAL CLINICAL GUIDELINES
NICE Autism 2011 National           National          England and     Healthcare         From       Pervasive        ICD-10 or         May be
in under 19 s:   Collaborating      Institute for     Wales           professionals      birth up   developmental    DSM-IV            uncertainty
recognition,     Centre for         Health and                                           to         disorder (PDD)                     before
referral and     Women’s and        Care                                                 19 years                                      24 months, or
diagnosis        Children’s         Excellence                                                                                         with
(NICE CG128)     Health             (NICE)                                                                                             developmental
[39]                                                                                                                                   age of less than
                                                                                                                                       18 months
Six Steps of   2011 Regional        Health and        Northern        Health care        Up to      Autism           ICD-10, DSM-      Pre-school.
Autism Care         Autistic        Social Care       Ireland         and education      the age    spectrum         IV, NICE, SIGN,   Language delay
for children        Disorder        Board                             professionals,     of         disorder         NZ Guide-         by the age of
and young           Network for                                       parents, carers,   18 years                    lines, NHS        two years.
people in           Northern                                          service users                                  Map of
Northern            Ireland                                           and providers.                                 Medicine
Ireland
(RASDN) [44]
Autism        2012 National         National          England and     Health and    Adults   Autism                  N/S             N/A
Spectrum           Collaborating    Institute for     Wales           social care   aged 18 spectrum                 *ICD-10
Disorder in        Centre for       Health and                        providers and and over disorders               specified in
adults:            Mental Health    Care                              commissioners                                  full version of
diagnosis and                       Excellence                                                                       CG142 [62]
management                          (NICE)
(NICE CG142)
[9]
Autism Adult 2013 Regional          Health and        Northern        Professionals,     Adults   Autism             DSM-5 and         N/S
Care Pathway      Autistic          Social Care       Ireland         adults and         from age spectrum           ICD-10, NICE
(RASDN) [54]      Spectrum          Board                             families           18       disorders          guidance
                  Disorder                                                                                           CG142.
                  Network
Assessment,   2016 N/A              Scottish          Scotland        Healthcare         Whole      Autism           ICD-10 and        Autism can be
diagnosis and                       Intercollegiate                   professionals      age        spectrum         DSM-5             reliably
interventions                       Guidelines                                           range      disorder                           diagnosed
for autism                          Network                                                                                            between the
spectrum                                                                                                                               ages of 2–3.
disorders: A
national
clinical
guideline
(SIGN 145)
[10]
Hayes et al. BMC Psychiatry (2018) 18:222                                                                                          Page 7 of 25

Table 3 Key characteristics of guidelines (Continued)
Title            Year Author(s)       Publisher/      Geographical   Target          Age        Range of    Diagnostic       Age at which
                                      Journal         remit          audience        range      diagnoses   criteria         symptoms are
                                                                                                covered     referred to      recognised
GUIDELINES FROM PROFESSIONAL BODIES
RCSLT (Royal     2005 N/A             Royal College UK               Speech and      Children   Autism      ICIDH-2 (for     N/S
College of                            of Speech and                  language        and        spectrum    general
Speech and                            Language                       therapists      adults     disorder    clinical
Language                              Therapists                                                            assessment)
Therapists
Clinical
Guidelines
(Autism) [41]a
Good practice 2014 Royal College Royal College UK                    Psychiatrists   Adults   Autism        ICD-10, DSM-     N/S
in the             of            of Psychiatrists                    working with    from age               5, NICE, 2012.
management         Psychiatrists                                     adults of at    18
of autism                                                            least normal
(including                                                           intellectual
Asperger                                                             ability
syndrome) in
adults
(RCPych
CR191) [11]
Autism           2016 Stuart-         British         UK             Psychologists   All ages   Autism      ICD-10 and       Both diagnostic
Spectrum              Hamilton,       Psychological                                             Spectrum    DSM-5, NICE,     manuals consider
Disorders:            Dillenburger,   Society                                                   Disorder    2011.            ASD indicators to
Guidance for          Hood &                                                                                                 be present by the
Psychologists         Austin                                                                                                 age of 36 months
(BPS) [40]b                                                                                                                  although some
                                                                                                                             children can be
                                                                                                                             identified under
                                                                                                                             the age of
                                                                                                                             24 months.
BMJ Best         2017 Parr            British Medical Outside US     Medical         All ages   Autism      DSM-IV, DSM-     More than 80%
Practice              &Woodbury-      Journal         and Canada     Practitioners              Spectrum    5 & ICD-10.      of children with
online                Smith                                                                     Disorder    NICE, SIGN,      ASD show clear
resource [43]                                                                                               AACAP, AAP,      behavioural signs
                                                                                                            NZ ASD           by the age of
                                                                                                            guideline,       24 months, some
                                                                                                            AAN              indicators in 12–
                                                                                                                             18 months
JOURNAL ARTICLES
Diagnosis and 2011 Blenner,           British Medical N/S            General         Children   Autism      DSM-IV TR or     N/S
management         Reddy &            Journal                        clinicians                 Spectrum    ICD-10
of autism in       Augustyn                                                                     Disorder
childhood
[47]
Diagnosis and 2012 Carpenter          Advances in     N/S            Those         All ages     Autism      DSM-IV TR or N/S
assessment in                         Mental Health                  designing and              Spectrum    ICD-10. Gill-
autism                                and                            providing                  Disorder    berg’s for AS.
spectrum                              Intellectual                   diagnostic                             There are
disorders [48]                        disabilities                   services                               others but
                                                                                                            few use them
                                                                                                            (Kopra et al.,
                                                                                                            2008; Chiap-
                                                                                                            pedi et al.,
                                                                                                            2010).
Autism           2013 Garland,        Advances in     UK             Psychiatrists   Adults     Autism      ICD-10 and       To satisfy ICD-10
spectrum              O’Rourke &      Psychiatric                                               Spectrum    DSM-5, NICE      criteria for child-
disorder in           Robertson       Treatment                                                 Disorders                    hood autism, im-
adults: clinical                                                                                                             pairments must
features and                                                                                                                 manifest before
the role of                                                                                                                  the age of
the                                                                                                                          3 years
psychiatrist
[49]
Hayes et al. BMC Psychiatry (2018) 18:222                                                                                                  Page 8 of 25

Table 3 Key characteristics of guidelines (Continued)
Title           Year Author(s)         Publisher/       Geographical     Target           Age         Range of        Diagnostic     Age at which
                                       Journal          remit            audience         range       diagnoses       criteria       symptoms are
                                                                                                      covered         referred to    recognised
Recognising,    2012 Howlett &         Every Child      England and      Professionals    Children    Autism          NICE           The core autism
referring and        Richman           Journal          Wales            working with     and                                        behaviours are
diagnosing                                                               children and     young                                      typically present
autism [45]                                                              young people     people                                     in early
                                                                                                                                     childhood; but
                                                                                                                                     features can
                                                                                                                                     appear different
                                                                                                                                     with age or
                                                                                                                                     change with
                                                                                                                                     circumstances
Autism [50]     2013 Lai,              The Lancet       N/S              N/S              All ages    Autism or the   DSM-5, ICD-    N/S
                     Lombardo &                                                                       autism          10
                     Baron-Cohen                                                                      spectrum
Autism [51]     2009 Levy, Mandell The Lancet           N/S              N/S              N/S but     Autism          DSM-IV and     Parents often
                     & Schultz                                                            primarily   Spectrum        ICD-10         aware from age
                                                                                          talks       Disorder                       18 months, a
                                                                                          about                                      diagnosis is often
                                                                                          children                                   not made until
                                                                                                                                     2 years after the
                                                                                                                                     initial expression
                                                                                                                                     of parental
                                                                                                                                     concern.
Autism        2009 O’Hare              Archives of      N/S but          Paediatricians   Children    Autism          ICD-10 and     N/S
spectrum                               Disease in       relates                           and         Spectrum        DSM-IV, SIGN
disorder:                              Childhood:       primarily to                      young       Disorder
diagnosis and                          Education and    SIGN                              people
management                             Practice         guidelines
[53]                                   Edition
Recognition, 2012 Pilling, Baron- British Medical England and            N/S              Adults      Autism          N/S            N/S
referral,         Cohen,          Journal         Wales
diagnosis,        Megnin-
and               Viggars, Lee &
management        Taylor
of adults with
autism:
summary of
NICE
guidance [58]
Autism          2011 Reynolds          Community        UK               Community        Children    Autism          ICD-10, DSM-   N/S
Spectrum                               Practitioner                      practitioners                Spectrum        IV
Disorders in                                                                                          Disorder
childhood: a
clinical
update [46]
The NICE      2014 Wilson,             Advances in      England and      Health care      All adults Autism           N/S            N/S
guideline on       Roberts,            Mental Health    Wales            professionals,              spectrum
recognition,       Gillan, Ohlsen,     and                               service                     disorder
referral,          Robertson &         Intellectual                      managers,
diagnosis and      Zinkstok            Disabilities                      service users,
management                                                               practitioners
of adults on
the autism
spectrum [52]
a
Pre 2009 but constitutes current guideline in use from RCSLT
b
Currently under review but represents the most recent published guideline from BPS

  Guidelines acknowledged that there is variation in rates                     Definitions of autism
of identification, assessment criteria and practice [9]; that                  Definitions of autism in ICD-10 and DSM-5 differed.
there is increasing demand for diagnostic services [39]; and                   ICD-10 took a categorical approach with a definition of
that increased awareness of autism is likely to lead to a rise                 Pervasive Development Disorders that included
in people presenting for assessment [40].                                      sub-diagnoses within it; whilst DSM-5 used the overarching
Hayes et al. BMC Psychiatry (2018) 18:222                                                                    Page 9 of 25

dimensional concept of Autism Spectrum Disorder. Some          Narrative review of social factors
inconsistencies were present related to the differences in     We used three inter-related elements as an organising
classification in ICD-10 and DSM-5, therefore, for example,    framework to describe the social factors identified in
Rett’s Syndrome and Asperger’s Syndrome were                   clinical guidelines: operational, interactional and con-
sub-diagnoses of Pervasive Development Disorders in            textual. These factors do not stand alone from each
ICD-10, but were encompassed in the overarching diagno-        other, indeed, they appear to have a dynamic and
sis of Autism Spectrum Disorder in DSM-5 [32, 33]. Defini-     inter-dependent relationship, however, organising them
tions of autism in all other guidelines considered in this     provides a way to map their range and scope (see Fig. 3).
study were broadly consistent with the idea of a ‘spectrum’.
   Most guidelines (n = 14) referred to symptom criteria       Operational factors
from both ICD-10 and the (then) current version of             Operational factors included how different assessment
DSM (DSM-IV up to 2012 and DSM-5 from 2013), with              processes impact on the diagnostic decision, such as
eight guidelines recommending that HCPs should use             which tools and processes are engaged and when; what
the current version of DSM or ICD criteria for diagnosis.      constitutes an assessment; and whether the decisions
Exceptions were NICE CG142, which was based on                 take place as part of diagnosis or formulation. Table 4
ICD-10, [9]; Royal College of Speech and Language              outlines some of these operational factors.
Therapists (RCSLT) [41], which drew on the Inter-
national Classification of Functioning, Disability and         The assessment process
Health (ICIDH-2) for general clinical assessment [42];         One guideline suggested that clinical practice varies
and journal articles describing NICE guidelines which          greatly [43] and we found this to be mirrored in CPGs
made no mention of DSM/ICD (n = 3).                            with a wide range of potential assessment processes in-
   Overall, therefore, the guidelines were mixed in their      cluded. DSM-5 recommended that a diagnostic assess-
recommended sources for symptom criteria due to the            ment should include gathering multiple sources of
current differences in the two classification systems.         information from clinician’s observations, caregiver

 Fig. 3 Social factors in clinical guidelines
Hayes et al. BMC Psychiatry (2018) 18:222                                                                      Page 10 of 25

history and self-report (where possible). National guide-        tools without specifically recommending any particular
lines, although providing far greater detail, tended to          instrument(s), although regular references were made to
include these areas and additionally suggested various other     ADOS (n = 13), ADI-R (n = 11), DISCO (n = 9) and 3di
detailed assessments such as gathering wider functional/as-      (n = 6). The NICE guideline for children and young
sessment information [10]; using documentary evidence,           people emphasised use of DSM/ICD criteria rather than
assessing risks, and assessment of challenging behaviour         tools; the NICE guideline for adults did the opposite [9,
[9]; assessing for co-conditions [9, 39]; physical examination   39]. Overall, findings concurred with Penner et al. in
[39]; comprehensive educational assessment [44]; assess-         that guidelines varied substantially in their recommenda-
ment of communication, neuropsychological functioning,           tions for use of diagnostic tools [29].
motor and sensory skills, and adaptive functioning [10].
Professional guidelines added other factors such as compre-      Diagnosis and formulation
hensive cognitive assessment [40] and impact of individual’s     There were differences in the way guidelines described
mental health [41], accounts of relationships in different       the relationship between, or referred to, diagnosis,
settings [11] and observation in school or another setting       assessment, profiling, needs assessment and wider
[43]. Journal articles tended to reflect national guidelines     formulation. All guidelines encompassed the concept of
and varied in the level of detail outlined for assessment fac-   a wider (needs related) assessment but few explicitly sep-
tors. Two articles gave little detail of assessment processes    arated out these processes or discussed how this related
but one referred readers directly to NICE guidelines for fur-    to a diagnostic assessment. One exception to this was
ther detail [45] and the other was aimed at community            the Regional Autistic Spectrum Disorder Network
practitioners who would be more likely to be involved in re-     (RASDN) children’s guideline, which separated the diag-
ferral than diagnosis [46]. Articles also included assessment    nostic from the formulation process, describing the
of co-occuring conditions (e.g. [47–52]) and a physical or       latter as including examination of the person’s wider
medical examination (e.g. [47, 50]). Additional assessment       environment:
areas included assessment of specific domains such as fam-
ily stressors and coping abilities [47]. In one guideline [48]     ‘The outcome of the formulation should be to
it was suggested that some clinicians bypass ICD/DSM cri-          understand an individual in a more global holistic way
teria and instead undertake:                                       rather than merely in terms of signs and symptoms,
                                                                   as in the case of diagnosis’ [44].
  ‘…testing for specific underlying difficulties such as
  lack of theory of mind or lack of central coherence              The RCPsych guideline suggested that diagnosis is
  and then using these to decide the presence of the             only one component of the wider multidisciplinary exer-
  behavioural criteria’ [48].                                    cise [11]. Some guidelines did not mention formulation
                                                                 but suggested a profile of strengths, abilities and weak-
  The RCSLT guideline [41] differed from most by sug-            nesses should be carried out alongside a diagnostic
gesting consideration of theories relating to the triad of       assessment (e.g. [10, 39]). Adult guidelines from RASDN
social impairments, such as executive functioning defi-          separated out a diagnostic assessment from a full needs
cits, motivation, memory and central coherence, as well          assessment [54]; NICE guidelines for adults considered
as social interaction and communication. However, some           comprehensive assessment to include diagnostic,
(e.g. [40]) suggested cognitive or neuropsychological            needs and risk assessment [9]; whilst the full chil-
testing whilst SIGN guidelines stated that such assess-          dren’s guidelines similarly brought together the diag-
ments are ‘useful for individual profiling but are not           nostic and needs elements under ‘autism diagnostic
diagnostic instruments’ [10]. This anomaly may reflect           assessment’, explaining that:
the specialist role of SLTs in the diagnostic process.
  Overall, we would concur with a reflection in one                ‘..the label of autism does not constitute a complete
guideline, which noted how the HCP may be faced with               diagnostic assessment and a profile of the child or
‘possible uncertainty as to where to go next in their in-          young person’s strengths and weaknesses is also
vestigation framework as this could be potentially enor-           essential. This requires a multidisciplinary team which
mous’ [53].                                                        has the skills to undertake the assessments necessary
                                                                   for profiling’ [55].
Diagnostic tools
Recommendations about the use of diagnostic tools were              Operationally, therefore, there were contradictions
mixed. One third of the guidelines (n = 7) did not specify       between guidelines about what constitutes the diagnostic
any particular tool for diagnostic assessment. Other             process, how it should be structured and which diagnos-
CPGs tended to suggest the consideration of a range of           tic tools should be used.
Table 4 Key diagnostic recommendations
CPG         Recommended tools              MDT recommended                         MDT membership                           Assessment targets            Key features of assessment
DIAGNOSTIC CRITERIA
ICD-10      N/S                            N/S                                     N/S                                      N/S                           Diagnose on the basis of behavioural
(1993) [32]                                                                                                                                               features
DSM-5       No specific tool               N/S                                     N/S                                      N/S                           Careful clinical history & summary of
(2013) [33]                                                                                                                                               social, psychological & biological
                                                                                                                                                          factors.
                                                                                                                                                          Multiple sources of information:
                                                                                                                                                          • clinician’s observations
                                                                                                                                                          • caregiver history
                                                                                                                                                          • self-report (where possible)
                                                                                                                                                          Clinical judgement
                                                                                                                                                                                                    Hayes et al. BMC Psychiatry (2018) 18:222

NATIONAL CLINICAL GUIDELINES
NICE        No specific tool recommended   Autism team members should carry        Autism team made up of                   Start the autism diagnostic   Seek report from the pre-school or
CG128                                      out assessment (short version). A       Paediatrician &/or Child & Adolescent    assessment within 3 months    school; gather additional health or
(2011) [39]                                diagnosis can be made by a single       Psychiatrist, SLT, Clinical &/or         of referral. Follow up        social care information. Include in
                                           experienced HCP; profile of strengths   Educational Psychologist & access to     appointment within 6 weeks    every autism diagnostic assessment:
                                           & weaknesses is essential, and          paediatrician/paediatric neurologist,    of assessment.                • questions about parent/carer/child’s
                                           requires MDT [55] (full version).       Child & Adolescent Psychiatrist,                                         concerns
                                                                                   Educational Psychologist, Clinical                                     • details of the child’s experiences of
                                                                                   Psychologist, OT, if not in team. Also                                   home life, education and social care
                                                                                   consider specialist health visitor or                                  • developmental history, focusing on
                                                                                   nurse, specialist teacher or social                                      developmental and behavioural
                                                                                   worker.                                                                  features
                                                                                                                                                          • assessment (through interaction
                                                                                                                                                            with and observation of the child or
                                                                                                                                                            young person) of social and
                                                                                                                                                            communication skills and
                                                                                                                                                            behaviours
                                                                                                                                                          • medical history, including prenatal,
                                                                                                                                                            perinatal and family history, and
                                                                                                                                                            past and current health conditions
                                                                                                                                                          • physical examination
                                                                                                                                                          • consideration of the differential
                                                                                                                                                            diagnosis
                                                                                                                                                          • systematic assessment for
                                                                                                                                                            conditions that may coexist with
                                                                                                                                                            autism
                                                                                                                                                          • development of a profile of the
                                                                                                                                                            child’s or young person’s strengths,
                                                                                                                                                            skills, impairments and needs that
                                                                                                                                                            can be used to create a needs-
                                                                                                                                                            based management plan, taking
                                                                                                                                                            into account family and educational
                                                                                                                                                            context
                                                                                                                                                          • communication of assessment
                                                                                                                                                            findings to the parent/carer/child
                                                                                                                                                                                                        Page 11 of 25
Table 4 Key diagnostic recommendations (Continued)
CPG          Recommended tools                       MDT recommended                          MDT membership                            Assessment targets              Key features of assessment
RASDN       No specific tool                         The use of MDT approach is               Involving at least two disciplines:       Referral screened within        Step one: Initial directed
(2011) [44]                                          necessary                                paediatrician; child psychiatrist; SLT,   5 days. Info provided within    conversation.
                                                                                              OT, clinical psychologist; specialist     4 weeks. 13 weeks to first      Step two: Integrated multidisciplinary
                                                                                              health visitor; mental health             appointment. Feedback           team assessment (leads to diagnosis/
                                                                                              practitioner (CAMHS); social worker;      within 4 weeks, report within   non-diagnosis) includes:
                                                                                              nurse; ed. psych. Teacher; other          6 weeks of formulation.         • medical history inc: birth history,
                                                                                              trained professionals                                                       family history, & general medical
                                                                                                                                                                          concerns
                                                                                                                                                                        • developmental history focusing on
                                                                                                                                                                          developmental & behavioural
                                                                                                                                                                          concerns
                                                                                                                                                                        • observational assessment of the
                                                                                                                                                                                                                 Hayes et al. BMC Psychiatry (2018) 18:222

                                                                                                                                                                          child/young person
                                                                                                                                                                        • further assessment/observations in
                                                                                                                                                                          another setting (school/home)
                                                                                                                                                                        • physical exam in some groups
                                                                                                                                                                        • specific assessments may be
                                                                                                                                                                          required, e.g. SLT assessment
                                                                                                                                                                        • educational assessment
                                                                                                                                                                        Step three: Integrated MDT
                                                                                                                                                                        formulation (leads to wider
                                                                                                                                                                        understanding of difficulties)
                                                                                                                                                                        Step four: family feedback and care
                                                                                                                                                                        planning
NICE         Identification: Consider AQ-10 (with-   Comprehensive assessment should          Specialist autism team made up of:        N/S                             During a comprehensive assessment,
CG142        out LD); Brief assessment (with LD).    be team based (short version). At a      Clinical Psychologists, Nurses, OTs,                                      enquire about and assess the
(2012) [9]   Diagnosis and assessment: AAA in-       minimum by a qualified clinician         Psychiatrists, Social Workers, SLTs,                                      following:
             cluding AQ and EQ; ADI-R; ADOS-G;       usually a clinical psychologist,         Support Staff                                                             • core autism signs and symptoms
             ASDI; RAADS-R (without LD). ADOS-G;     psychiatrist or neurologist [62] (full                                                                               that have been present in
             ADI-R (with LD); DISCO, ADOS-G, ADI-    version).                                                                                                            childhood and continuing into
             R                                                                                                                                                            adulthood
                                                                                                                                                                        • early developmental history, where
                                                                                                                                                                          possible
                                                                                                                                                                        • behavioural problems
                                                                                                                                                                        • functioning at home, in education
                                                                                                                                                                          or in employment
                                                                                                                                                                        • past and current physical and
                                                                                                                                                                          mental disorders
                                                                                                                                                                        • other neurodevelopmental
                                                                                                                                                                          conditions
                                                                                                                                                                        • hyper- and/or hypo-sensory sensitiv-
                                                                                                                                                                          ities and attention to detail.
                                                                                                                                                                        Direct observation of core autism
                                                                                                                                                                        signs and symptoms especially in
                                                                                                                                                                        social situations.
                                                                                                                                                                        Assess for possible differential
                                                                                                                                                                        diagnoses and coexisting disorders
                                                                                                                                                                        Assess risks; Develop care plan,
                                                                                                                                                                        provide health passport, consider
                                                                                                                                                                                                                     Page 12 of 25
Table 4 Key diagnostic recommendations (Continued)
CPG         Recommended tools                     MDT recommended                     MDT membership                         Assessment targets            Key features of assessment
                                                                                                                                                           24 h crisis management plan; Assess
                                                                                                                                                           challenging behaviour
                                                                                                                                                           Consider further investigations on
                                                                                                                                                           individual basis
RASDN       Screening: GADS, GARS-2, AASQ,        Diagnosis must be team based &      At least two of: clinical psychology   Final report to be provided   As an absolute minimum, elements 2,
(2013) [54] ASAS, NAS, AQ-10 History: ADI-R,      draw on a range of professionals.   (core), psychiatry, SLT, LD/MH         within 6 weeks of             3 & 4 must be included in the
            DISCO, ASDI, RAADS-R;                                                     nursing; OT, other appropriately       assessment.                   assessment.
            Direct assessment: ASIT, HSST, SSQ,                                       trained professionals.                                               1. Neurodevelopmental history,
            Observation: ADOS-G                                                                                                                            corroborated via relative/family;
                                                                                                                                                           2. Direct autism specific assessment
                                                                                                                                                           with individual;
                                                                                                                                                           3. Observational recording of
                                                                                                                                                                                                     Hayes et al. BMC Psychiatry (2018) 18:222

                                                                                                                                                           assessment sessions;
                                                                                                                                                           4. Clinical judgement.
                                                                                                                                                           May also include; standardized
                                                                                                                                                           measure of adaptive functioning;
                                                                                                                                                           assessment of language &
                                                                                                                                                           communication skills; functional
                                                                                                                                                           assessment of problematic behaviour;
                                                                                                                                                           full needs assessment
SIGN 145 Identification: AQ-10 Diagnosis and      MDT … should be considered as the Experienced professionals                N/S                           • History taking (informant interview):
(2016) [10] Assessment: E.g. ADI-R, DISCO, 3di,   optimum approach                                                                                           prenatal, perinatal & developmental
            CARS, CARS-2, ADOS-G. NAPC and                                                                                                                   history; description of the current
            RCPsych guides.                                                                                                                                  problems experienced; family
                                                                                                                                                             history; description of who is in
                                                                                                                                                             family; coexisting conditions and
                                                                                                                                                             differential diagnoses
                                                                                                                                                           • Clinical observation/assessment
                                                                                                                                                             (individual assessment/interview):
                                                                                                                                                             directly observe & assess the
                                                                                                                                                             individual’s social & communication
                                                                                                                                                             skills and behaviour
                                                                                                                                                           • Contextual and functional
                                                                                                                                                             information from a variety of
                                                                                                                                                             settings and people
                                                                                                                                                           • Profile of the individual’s strengths
                                                                                                                                                             and difficulties: communication,
                                                                                                                                                             cognitive, neuropsychological and
                                                                                                                                                             adaptive functioning; motor and
                                                                                                                                                             sensory skills
                                                                                                                                                           • Biomedical investigations on an
                                                                                                                                                             individual basis when clinically
                                                                                                                                                             relevant
                                                                                                                                                           • Assessment of mental health needs,
                                                                                                                                                             wellbeing and risk should be
                                                                                                                                                             considered
                                                                                                                                                                                                         Page 13 of 25
Table 4 Key diagnostic recommendations (Continued)
CPG         Recommended tools                       MDT recommended                        MDT membership                           Assessment targets     Key features of assessment
GUIDELINES FROM PROFESSIONAL BODIES
RCSLT       N/S                                     Should always be multidisciplinary &   This may include SLT, child              N/S                    During assessment, consideration
(2005) [41]                                         multi-agency to achieve optimum        psychology, child psychiatry, clinical                          must be given to the triad of social
                                                    benefit.                               psychology, paediatrician, EdPsych.,                            impairments, as well as theories
                                                                                           OT & teacher                                                    relating to the triad, for example
                                                                                                                                                           sensory sensitivity and integration;
                                                                                                                                                           intersubjectivity; executive
                                                                                                                                                           functioning deficits; motivation;
                                                                                                                                                           memory and central coherence.
                                                                                                                                                           • Joint attention
                                                                                                                                                           • Readiness & ability to focus & shift
                                                                                                                                                             attention
                                                                                                                                                                                                     Hayes et al. BMC Psychiatry (2018) 18:222

                                                                                                                                                           • Social interaction
                                                                                                                                                           • Use of communicative strategies
                                                                                                                                                           • Evaluation of child’s play
                                                                                                                                                           • Info about learning potential
                                                                                                                                                           • Impact of individual’s mental health
RCPsych     Identification: AQ, RAADS-R. RPsych     NICE advocates multidisciplinary       MDT usually includes psychology &        N/S                    • Speak with informant
(2014) [11] Guide. Questionnaires: ASAS, GARS,      exercise, but psychiatrists might be   nursing as core membership                                      • Take neurodevelopmental history
            GARS-2, SCQ, SRS-2, AQ, AQ-10,          expected to diagnose                                                                                   • Consider obtaining early health
            RAADS-R, SCDS, ABC. Diagnostic in-      straightforward cases & be alert to                                                                      records
            terviews: ADI-R, ADOS-2, DISCO, 3Di,    indications for a more specialist                                                                      Might include assessment for;
            AAA, RPsych Guide, PDD-MRS, ASDI,       assessment.                                                                                            cognitive ability, functional ability,
            CARS-2, HBS, WADIC Assessment for                                                                                                              coexistent neurodevelopmental
            associated dev disabilities: AQ, EQ,                                                                                                           disabilities, coexistent psychiatric
            SQ, Faces test, eyes test, Faux Pas                                                                                                            disorders, mental capacity, risk of
            Recognition Test, SSQ, Dewey’s Social                                                                                                          harm/offending, medical problems
            Stories, Adult/Adolescent sensory                                                                                                              Wherever possible, it is essential that
            profile                                                                                                                                        the clinician gets accurate accounts
                                                                                                                                                           of relationships in different settings
                                                                                                                                                           (e.g. at work & at home), particularly
                                                                                                                                                           where they might be more
                                                                                                                                                           demanding for that individual.
BPS (2016) e.g. ADOS, ADI, DISCO, ADI-R             It is recommended that assessment      At least one psychologist, in addition It is recommended that   The taking of a developmental
[40]                                                is multidisciplinary.                  to other relevant personnel, such as assessment is timely.      history with carers as well as
                                                                                           OTs, mental health workers etc.                                 observation across different settings.
                                                                                                                                                           Information from a range of sources.
                                                                                                                                                           Psychologists contribution to
                                                                                                                                                           identification and assessment may
                                                                                                                                                           include:
                                                                                                                                                           • Assessment of protective factors,
                                                                                                                                                             strengths and abilities
                                                                                                                                                           • Assessment of associated mental
                                                                                                                                                             health issues
                                                                                                                                                           • Comprehensive developmental and
                                                                                                                                                             family history
                                                                                                                                                           • Assessment of learning styles
                                                                                                                                                           • Assessment of strengths and of
                                                                                                                                                             barriers to learning
                                                                                                                                                                                                         Page 14 of 25
Table 4 Key diagnostic recommendations (Continued)
CPG        Recommended tools                      MDT recommended                          MDT membership                         Assessment targets             Key features of assessment
                                                                                                                                                                 • Assessment of environmental
                                                                                                                                                                   conditions for learning
                                                                                                                                                                 • Functional behavioural assessment
                                                                                                                                                                 • Assessment of social
                                                                                                                                                                   communication style
                                                                                                                                                                 • Assessment of the needs of families.
                                                                                                                                                                 • Comprehensive cognitive
                                                                                                                                                                   assessment, which may include
                                                                                                                                                                   psychometrics if deemed necessary
BMJ         Screening: CHAT, M-CHAT               Diagnosis should be confirmed or         Paediatricians, child psychiatrists,    N/S                           A combination of:
(2017) [43] Parental questionnaires: SCQ, CAST,   made by an appropriately trained         adult psychiatrists or psychologists, &                               • neurodevelopmental history
            CARS; for adults, the SRS, ASQ.       professional, ideally working as part    other professionals
                                                                                                                                                                                                           Hayes et al. BMC Psychiatry (2018) 18:222

                                                                                                                                                                 • standardised interview, &
            Diagnosis and Assessment: eg ADOS-    of MDT                                                                                                         • observational assessment
            G, ADI-R; 3di; DISCO                                                                                                                                 Gather information about functioning
                                                                                                                                                                 in more than one environment; A full
                                                                                                                                                                 neurological examination including
                                                                                                                                                                 measurement of head circumference
                                                                                                                                                                 is routinely performed in all children.
JOURNAL ARTICLES
Blenner et Screening: CHAT, PDDST, STAT,          Paediatric neurologists,                 N/S                                    N/S                            Comprehensive evaluation that
al (2011)  CHAT-23, M-CHAT, ITC, SCQ.             developmental & behavioural                                                                                    includes
[47]       Diagnosis: ADOS.                       paediatricians, child psychiatrists or                                                                         • lifetime & family history
                                                  psychologists, or, ideally, MDT.                                                                               • review of medical & educational
                                                                                                                                                                   records
                                                                                                                                                                 • behavioural observation
                                                                                                                                                                 • physical examination
                                                                                                                                                                 • administration of standardised
                                                                                                                                                                   instruments such as the autism
                                                                                                                                                                   diagnostic observation schedule
                                                                                                                                                                 • cognitive & adaptive assessment
                                                                                                                                                                 • review of established DSM or ICD
                                                                                                                                                                   diagnostic criteria
                                                                                                                                                                 • Assessment of specific domains,
                                                                                                                                                                   such as communication skills,
                                                                                                                                                                   sensory and motor problems, and
                                                                                                                                                                   family stressors and coping abilities
                                                                                                                                                                 • Look for causes & co-occuring con-
                                                                                                                                                                   ditions (further tests)
Carpenter Screening: ASDASQ, AQ and EQ,           Diagnosis can be made by one           N/S                                      Labour intensive - up to 8 h   Three elements (judged against
(2012) [48] AAA. AQ-10, RAADS-R. RCPsych          clinician. Wider assessment requires                                            to make & document             criteria of ICD-10 or DSM-4):
            guide.                                a team. A variety of professionals can                                          diagnosis.                     • interview with person
            Observation: PDD-MRS (with ID);       diagnose.                                                                                                      • observation
            ADOS-G.                                                                                                                                              • interview with an informant
            Interview: ADI-R, DISCO, 3Di.                                                                                                                        Some clinicians bypass the criteria &
            AAA to provide structure.                                                                                                                            test, for example, theory of mind,
                                                                                                                                                                 central coherence.
                                                                                                                                                                 Consider possible co-morbidities
                                                                                                                                                                                                               Page 15 of 25
Table 4 Key diagnostic recommendations (Continued)
CPG         Recommended tools                      MDT recommended                          MDT membership                       Assessment targets             Key features of assessment
                                                                                                                                                                Holistic assessments needs to be
                                                                                                                                                                structured around:
                                                                                                                                                                • Need for social support and for help
                                                                                                                                                                  with employment
                                                                                                                                                                • Sensory and processing difficulties
                                                                                                                                                                • Medical issues
                                                                                                                                                                • Neuro-psychiatric conditions
                                                                                                                                                                • Practical skills, including motor
                                                                                                                                                                  difficulties
                                                                                                                                                                • Social interaction skills
                                                                                                                                                                • Emotional understanding (of self
                                                                                                                                                                  and others) and personal coping
                                                                                                                                                                                                         Hayes et al. BMC Psychiatry (2018) 18:222

                                                                                                                                                                  strategies
                                                                                                                                                                • Interests and preoccupations
                                                                                                                                                                • Sexual interests and future desires
                                                                                                                                                                • Insight and future desires and
                                                                                                                                                                  motivation
                                                                                                                                                                • Psychiatric concerns
                                                                                                                                                                • Other behaviours that may get
                                                                                                                                                                  person into contact with the law
                                                                                                                                                                • Support for carers
Garland et Screening: AQ-50, AQ-10                 When mental health difficulties also Outlines psychiatrist’s role.            Enough time should be set      • History of presenting complaint
al. (2013) Diagnosis: ADI-R, ADOS = G, RCPsych     exist, the expertise of the wider MDT                                         aside                          • Psychiatric history
[49]       Diagnostic Interview Guide              is likely to be engaged.                                                                                     • Family history
                                                                                                                                                                • Medical history
                                                                                                                                                                • Developmental history
                                                                                                                                                                • Personal & social history
                                                                                                                                                                • Mental state examination
                                                                                                                                                                • Assess for comorbid disorders inc.
                                                                                                                                                                  neurodevelopment disorders
                                                                                                                                                                • Physical assessment
                                                                                                                                                                • Functional level assessment
                                                                                                                                                                • Assess risk
                                                                                                                                                                • Assessment of care & support needs
                                                                                                                                                                • Consideration of need in areas of
                                                                                                                                                                  education & employment
Howlett & No specific tool                         If the local autism team does not        Minimum, paediatrician &/or child & Timely & appropriate. Follow    Should provide detailed
Richman                                            have the skills to assess these          adolescent psychiatrist, SLT & clinical up appointment within six   developmental profile. Based on NICE
(2011) [45]                                        children themselves, they should         &/or Ed.Psych. Other professionals … weeks of assessment            guidance.
                                                   liaise with professionals who are able   specialist health visitor, nurse,
                                                   to do so                                 specialist teacher, social worker
Lai et      Screening: CHAT, ESAT, M-CHAT, ITC,    Assessment needs to be                   N/S                                  N/S                            • Interview with the parent or
al.......   Q-CHAT, STAT (for young children);     multidisciplinary                                                                                              caregiver
(2013) [50] SCQ, SRS, SRS-2, CAST, ASSQ, AQ (for                                                                                                                • Interaction with the individual
            older children and adolescents); AQ,                                                                                                                • Collection of information about
            RAADS-R (FOR ADULTS). Diagnosis                                                                                                                       behaviour in community settings
            and assessment: ADI-R, DISCO, 3Di                                                                                                                   • Cognitive assessments
            (for structured interview); ADOS,                                                                                                                   • Medical examination
                                                                                                                                                                                                             Page 16 of 25

                                                                                                                                                                • Co-occurring conditions
Table 4 Key diagnostic recommendations (Continued)
CPG          Recommended tools                     MDT recommended                     MDT membership                          Assessment targets   Key features of assessment
             ADOS-2, CARS, CARS-2 (observational
             measure).
Levy et al SCREENING: Q-CHAT, M-CHAT, FYI,        These assessments should be          The MDT should include clinicians                            • Use ICD or DSM criteria
(2009) [51] ECI-4, CSI-4, SCQ, ASDS, KADI, AQ-    multidisciplinary                    skilled in speech & language therapy,                        • Core and comorbid symptoms,
            Child, A (AUTISM) ABC (autism),                                            occupational therapy, education,                               cognition, language, & adaptive,
            PDDRS, PDD-MRS, DBC, DBC-ES,                                               psychology, & social work.                                     sensory, & motor skills.
            PDDBI, ABC (aberrant), CCC, SRS, RBS-                                                                                                   • Review of caregiver concerns,
            R, SCDC. Diagnosis and assessment:                                                                                                        descriptions of behaviour, medical
            PIA-CV, DISCO, ADI-R, 3Di. CHAT,                                                                                                          history, & questionnaires.
            STAT, AOSI, ADOS, CARS                                                                                                                  • Include stage 1 data.
                                                                                                                                                    • Observations across settings
                                                                                                                                                                                               Hayes et al. BMC Psychiatry (2018) 18:222

                                                                                                                                                    • Cognitive, communication, & ASD-
                                                                                                                                                      specific assessment
                                                                                                                                                    • Medical assessment
                                                                                                                                                    • Differential diagnosis
O’Hare      Screening: M-CHAT, NAPC Checklist      A multidisciplinary diagnostic      Paediatricians are essential members.   N/S                  • Direct clinical structured
(2009) [53] Diagnosis: ADOS-G, SRS                 approach is recommended                                                                            observations
                                                                                                                                                    • Critical that information is gathered
                                                                                                                                                      from different settings, outwith the
                                                                                                                                                      clinic – there are structured
                                                                                                                                                      questionnaires for parents/teachers
                                                                                                                                                    • Physical exam and other specialist
                                                                                                                                                      tests as required
Pilling et   Identification: AQ-10.                N/S                                 N/S                                     N/S                  Inquire about & assess the following:
al. (2012)                                                                                                                                          • Core autism signs & symptoms
[58]                                                                                                                                                • Early developmental history
                                                                                                                                                    • Behavioural problems
                                                                                                                                                    • Functioning at home, education,
                                                                                                                                                      employment
                                                                                                                                                    • Past & current physical & mental
                                                                                                                                                      disorders
                                                                                                                                                    • Other neurodevelopmental
                                                                                                                                                      conditions
                                                                                                                                                    • Neurological disorders (for example,
                                                                                                                                                      epilepsy)
                                                                                                                                                    • Communication difficulties
                                                                                                                                                    • Hypersensory &/or hyposensory
                                                                                                                                                      sensitivities & attention to detail
                                                                                                                                                    • Carry out direct observation of core
                                                                                                                                                      autism signs & symptoms especially
                                                                                                                                                      in social situations
                                                                                                                                                    • Functional analysis
Reynolds No specific tool                          N/S                                 N/S                                     N/S                  Observed behaviours with patient
(2011) [46]                                                                                                                                         presenting symptoms from ‘Triad of
                                                                                                                                                    Impairments’: social interaction, social
                                                                                                                                                    communication, social imagination
             Identification: AQ-10                 Should be carried out by MDT         N/S                                    N/S
                                                                                                                                                                                                   Page 17 of 25

                                                   consisting of professionals who have
Table 4 Key diagnostic recommendations (Continued)
CPG          Recommended tools                        MDT recommended                           MDT membership                           Assessment targets    Key features of assessment
Wilson et    Diagnosis and assessment: ADI-R;         experience in diagnosing autism                                                                          A comprehensive assessment of
al (2013)    ADOS-G. AAA, ADI-R, ADOS-G, ASDI,        (from NICE).                                                                                             autism should involve an assessment
[52]         RAADS-R (without ID). ADI-R and                                                                                                                   of
             ADOS-G (with ID). DISCO, ADI-R, or                                                                                                                • core autism signs and symptoms
             ADOS-G.                                                                                                                                           • early developmental history, where
                                                                                                                                                                 possible, and in the absence of an
                                                                                                                                                                 informant written information, such
                                                                                                                                                                 as school reports may be used
                                                                                                                                                               • behavioural problems
                                                                                                                                                               • functioning at home, in education,
                                                                                                                                                                 or in employment
                                                                                                                                                               • past and current physical and
                                                                                                                                                                                                          Hayes et al. BMC Psychiatry (2018) 18:222

                                                                                                                                                                 mental disorders
                                                                                                                                                               • other neurodevelopmental
                                                                                                                                                                 conditions
                                                                                                                                                               • neurological disorders (e.g. epilepsy)
                                                                                                                                                               • sensory processing and sensory
                                                                                                                                                                 sensitivity issues
                                                                                                                                                               Assess coexisting mental health
                                                                                                                                                               disorders. Risk assessment. Functional
                                                                                                                                                               analysis for challenging behaviour
Key OT Occupational Therapist, SLT Speech and Language Therapist, HCP Healthcare professional, MDT Multidisciplinary team, Ed.Psych Educational Psychologist
                                                                                                                                                                                                              Page 18 of 25
Hayes et al. BMC Psychiatry (2018) 18:222                                                                     Page 19 of 25

Interactional factors                                         the person or family may disagree with or be reluctant to
Interactional factors related to how the dialogue between     accept a diagnosis or, alternatively desire one [46] and be
HCPs and between HCPs and families impacts on the             determined on a particular outcome, which can lead to
assessment process. These include how consensus is            misleading results [11]. Carpenter asserted that some
reached, how disagreement is resolved and how the             people may begin to see diagnosis as a desirable outcome
views of the person and family are integrated into the        and pre-prepare answers based on structured interviews
decision-making process.                                      published on the internet [48]. The potential for disagree-
                                                              ment or desire for diagnosis, therefore, may impact on the
Multidisciplinary assessment versus single practitioner       interaction with the person or their family. So, although the
assessment                                                    relationship with the patient/family is considered within
Where specified, all guidelines advocated for diagnosis       CPGs, there is little guidance as to how HCPs might deal
to take place within a multidisciplinary setting with vari-   with patient/family desire or disagreement.
ous guidelines suggesting this was ‘necessary’ [44], the
‘optimum approach’ [10] or ‘ideal’ [43] (See Table 4).        Contextual factors
Some suggested (n = 4) that an appropriately trained and      There were factors related to the way in which HCPs inter-
experienced single professional is sufficient to diagnose     pret symptoms in different settings, how diagnostic thresh-
in particular cases, but to be alert for indications for a    olds are judged against criteria and included considerations
more specialist assessment [11] and with access to            around the impact and consequences of a diagnosis.
multidisciplinary support if required [48].
   Despite this almost universal recommendation, the ex-      Interpreting needs
tended version of NICE children’s guidelines (and cited       All national guidelines (n = 5) outlined the requirement to
by SIGN [10] and Carpenter [48]) questioned the evi-          consider the needs, preferences and values of the individ-
dence base for multidisciplinary assessment reporting a       ual and their family and/or support them to communicate
study [56] that showed moderate agreement between an          their needs and concerns. Most guidelines (n = 17) de-
individual HCP and an MDT in making a diagnosis, but          scribed elements of diagnosis that relate to either family
stating that it was a low quality study [55]. These guide-    environment, family needs and concerns, circumstances,
lines also suggested in practice that a diagnosis can be      relationships, functioning, experiences in different set-
made by a single experienced HCP but that a compre-           tings, contextual information or level of support needs.
hensive profile of the patient requires a multidisciplinary   Many guidelines reflected the need to consider assessment
approach [55]. SIGN guidelines also cited research [57]       of support required. Enquiries should be made about how
which demonstrates that parents value a multidisciplin-       symptoms impact on function within the family, at home,
ary assessment [10].                                          school or work [9, 39, 47, 54, 58]. Overall, therefore, there
   None of the guidelines in this review dealt with how       was a focus not only on the assessment of symptoms, and
HCPs come to a consensus within a multi-disciplinary          the way in which these affect the daily life of the person
context, although Northern Ireland guidelines recom-          and their family, but the wider environmental and social
mended that training should include the promotion of          context of the person and the way in which they are sup-
collaborative and innovative working [44] and that clini-     ported, or not, by that context.
cians must understand the profession specific roles and
responsibilities of the overall team [44, 54].                Masking and social context
   Therefore, most guidelines referred to MDTs as best        Some guidelines (n = 6) reported the difficulties of diag-
practice, but lacked recommendations about how roles          nosing autism when compensation strategies may ‘mask’
within MDTs are negotiated, how disagreement is re-           difficulties in some contexts, particularly as an adult
solved (other than second opinion outside the team); or       [33], and in girls [50] where autism may go unrecog-
how teams should work together, a factor that is ac-          nised. Some suggested that individuals may come for-
knowledged by NICE adults guideline [9].                      ward for diagnosis when their circumstances change
                                                              and/or stressors increase (e.g. [10, 45, 54]). Some guide-
Interaction with the person and their family                  lines (n = 5) noted that cultural differences will exist in
Many guidelines (n = 9) outlined the importance of keep-      norms for social interaction or that cultural variations
ing the person/family informed and involved throughout        can deliver misleading signs and symptoms. DSM-5 sug-
the process or recommended a person-centred approach.         gested that the boundaries between normality and path-
Some described the relationship with the person coming        ology differ between cultures and the level at which
for diagnosis and their family as a partnership (e.g. NICE    experience may become problematic may differ [33].
adult guideline [9]) or as person-centred (e.g. RASDN adult      SIGN suggested that those with autism may not have
guideline [54]). Some guidelines (n = 6) acknowledged that    met ‘normal’ adult milestones in work, relationships or
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