Post on 29-Nov-2020
REVIEW Open Access
Clinical practice guidelines for diagnosisof autism spectrum disorder in adultsand children in the UK: a narrative reviewJennie Hayes* , Tamsin Ford, Hateem Rafeeque and Ginny Russell
Abstract
Background: Research suggests that diagnostic procedures for Autism Spectrum Disorder are not consistent acrosspractice and that diagnostic rates can be affected by contextual and social drivers. The purpose of this review wasto consider how the content of clinical practice guidelines shapes diagnoses of Autism Spectrum Disorder in theUK; 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; USNational Guidelines Clearinghouse; HMIC; The Cochrane Library; Embase; Global health; Ovid; PsychARTICLES;PsychINFO) and relevant web sources (government, professional and regional NHS websites) for clinical practiceguidelines. We extracted details of key diagnostic elements such as assessment process and diagnostic tools. Aqualitative 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 diagnostictools and assessment procedures. Although multidisciplinary assessment was identified as the ‘ideal’ assessment, someguidelines 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 tohow these factors should be operationalized for best diagnostic outcomes.
Conclusion: Although individual guidelines appeared to present a coherent and systematic assessment process, theyvaried enough in their recommendations to make the choices available to healthcare professionals particularly complexand confusing. We recommend a more explicit acknowledgement of social factors in clinical practice guidelines withadvice about how they should be managed and operationalised to enable more consistency of practice andtransparency for those coming for diagnosis.
Keywords: Autism spectrum disorder, Diagnosis, Clinical guideline, Narrative review, Social factors, Diagnosticuncertainty, Clinical judgement
BackgroundThe diagnosis of autism poses particular challenges forhealthcare professionals (HCPs) as, in common with otherneurodevelopmental disorders and most psychiatric disor-ders, there are no biomarkers utilised in clinical practice[1–3]. In addition, the condition is heterogeneous, withwide ranging levels of severity and symptom expressionand characteristics common to autism may occur inpeople with other conditions [4]. Those coming for
diagnosis may also have symptoms of other conditionssuch as epilepsy, learning disability or sleep disorders, forexample, complicating diagnosis further, with some argu-ing for a de-compartmentalisation of these conditions inyounger children [5]. The ‘gold standard’ of diagnosis isconsidered to be consensus agreement within amulti-agency team [6, 7]. However, negotiating consensusbetween HCPs with different training, professional roles,experience and knowledge can be challenging and timeconsuming. Finally, a review of the accuracy, reliability,validity and utility of reported diagnostic tools and assess-ments found that many diagnostic instruments for autism
* Correspondence: Jennie.Hayes@exeter.ac.ukUniversity of Exeter Medical School, St Luke’s Campus, University of Exeter,Exeter EX1 2LU, UK
© The Author(s). 2018 Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, andreproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link tothe Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver(http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
Hayes et al. BMC Psychiatry (2018) 18:222 https://doi.org/10.1186/s12888-018-1800-1
lack a high-quality independent evidence base [6]. For ex-ample, only three instruments - the Autism DiagnosticObservation Schedule (ADOS), Autism Diagnostic Inter-view Revised (ADI-R) and the Childhood Autism RatingScale (CARS) - had a strong supporting evidence base [6].Given the potential challenges, clinical practice guide-
lines (CPGs) perform an important role in informing HCPsof best practice. CPGs are ‘systematically developed state-ments to assist practitioner and patient decisions about ap-propriate health care for specific clinical circumstances’ [8].National CPGs in the UK help to provide evidence-basedrecommendations to support Autism Strategies and ActionPlans [9] and form the guidance framework for HCPsundertaking assessment and diagnosis of autism in the UK.In addition to CPGs produced by specialist, governmentsupported healthcare associations, for example, theScottish Intercollegiate Guidelines Network (SIGN) [10],professional clinical bodies also publish discipline-specificpractice parameters or position papers, for example, theRoyal College of Psychiatrists (RCPsych) [11].
Social factorsAlthough CPGs aim to inform diagnostic practice, re-search suggests that diagnostic and assessment proceduresvary in practice [9]. Diagnosis is dependent on observingsocially-based behaviours that are arguably not necessarilycharacteristic of the person under assessment but arisefrom two-way social relationships and social context.Assessment mechanisms include drawing informationfrom a range of sources, including clinician observation,reporting from family members and wider contexts suchas school or workplace. This means that assessments arecontextual and inter-relational and symptoms may changeaccording to context or interpersonal relationship, makingdifferent assessment sources potentially contradictory.Some studies show that social factors such as individ-
ual patient preference, availability of resources or localorganisational factors can shape diagnostic practice, in,for example, heart disease [12]. Studies in autism havealso shown how diagnostic rates can be affected bycontextual and social drivers, such as diagnostic re-sources [13] or diffusion of information about autismthrough social networks [14]. Where there is diagnosticuncertainty clinicians may ‘upgrade’ to a diagnosis ofautism if they believe it would be in the best interests ofthe patient; if the diagnosis would trigger appropriateservices and funding; or counteract the limitations ofdiagnostic tools, particularly in atypical presentations[15, 16]. It seems, in practice, clinicians may adopt apragmatic, practical or functional approach.
Socio-economic and cultural factorsResearch has shown that lower social economic status(SES) is associated with increased parent-reported
prevalence [17], contrasting with the US where higherSES and parental education is linked to increased likeli-hood of diagnosis [14, 18]. Research also suggests thatpeople with autism from Black, Asian and MinorityEthnic (BAME) communities are less likely to bediagnosed with autism or access appropriate services[19] despite research which shows that behavioursassociated with autism are likely to be consistent acrosscultures and countries [20].Prior to diagnosis, social factors can also determine
who comes forward for diagnosis and who is referred forfurther assessment. Research examining a longitudinalUK cohort study identified that with the severity of aut-istic traits held constant, younger mothers and mothersof first-born children were significantly less likely to havechildren diagnosed with ASD [21]. In addition, boyswere more likely to receive a diagnosis than girls, andmaternal depression was linked with a lack of diagnosis[21]. These findings suggest both cultural and economicinfluences impact the diagnostic pathway.
Biomarkers in autism diagnosisThere is a great deal of research that explores the under-lying neurobiological, genetic, chemical and cognitivefactors that may, in future, provide biomarkers whichcould be utilised in autism diagnosis (see [22] for a reviewof genetic, metabolic and brain focused biomarkers). Forexample, a recent research study has identified a link be-tween damage to proteins in blood plasma and autismsymptoms [23]; while another found shared brain activitybetween boys diagnosed with ASD and those withobsessive-compulsive disorder (OCD) which in turn dif-fered from a non-diagnosed control group [24]. However,it has been argued that the heterogeneous and interactivenature of autism symptoms makes the identification ofclinically useful biomarker tests problematic [25]. Further-more, findings from biomarker research have yet to beintegrated with clinical practice and none currently haveenough evidence to support routine clinical use [22]. Forthe foreseeable future, therefore, these developments areunlikely to change diagnostic practice [26].
Purpose of the reviewAlthough a few studies have begun to explore healthprofessionals’ views of autism diagnosis [16, 27, 28], toour knowledge there are few studies that examine howclinical guidelines may inform assessment. One excep-tion is a recent systematic review of English speakingguidelines undertaken by Penner et al. [29] whichreported that guidelines varied considerably in quality,content and recommendations but included guidelinesworking across incomparable health systems in differentcountries. We therefore carried out a focussed narrativereview of guidelines that impact on UK-based practice.
Hayes et al. BMC Psychiatry (2018) 18:222 Page 2 of 25
Penner et al. suggest that in the face of disparate clinicalguidance clinicians should ‘be mindful of local resourcesand wait times, eligibility requirements for ASD ser-vices…and the wishes of families when deciding on howbest to assess for ASD’ [29]. Our narrative review re-sponds to this call for a pragmatic approach by investi-gating where, within guidelines, social factors andinfluences such as those suggested are considered.
MethodScoping searchA scoping search was undertaken to check there was nosimilar review published. A search was made in the fol-lowing databases; PsychARTICLES; Embase; Globalhealth; HMIC; Ovid (books; medline; journals); Psy-chINFO; Social policy and practice. One relevant articlewas retrieved [29], as discussed above.
Inclusion and exclusion criteriaFull inclusion and exclusion criteria are in Table 1.Whilst we took a broad approach to CPGs, including,for example, journal articles summarizing national CPGsand the diagnostic process, as well as national CPGs, theresearchers acknowledge that each of these type ofguidelines have different purposes (see Table 2). How-ever, we argue that each may have an impact on HCP’s
process of diagnosis to a greater or lesser extent and forthe purposes of this study all were included under theterm clinical practice guidelines.
Identification of CPGsWe did not set out to undertake a comprehensive sys-tematic review, as it was not a requirement of our studythat we consider risk of bias either within or acrossstudies [30]. However, we took a PRISMA approach toour search strategy, borrowing from systematic reviewmethodology in terms of screening titles and abstractsand data extraction techniques [31]. A systematic searchwas conducted in June 2017 using the following data-bases: NICE Evidence Base; TRIP; Social Policy andPractice; US National Guidelines Clearinghouse; HMIC;The Cochrane Library. In addition, searches were madeof government related websites and relevant professionalbodies as well as NICE and SIGN. We used the follow-ing search terms to search all databases and websites:‘autism’, ‘diagnosis’, ‘guidance’, ‘statutory’, ‘clinical’, ‘practice’,‘guideline’, ‘protocol’, ‘strategy’, ‘policy’, ‘bill’, ‘act’, and ‘par-ameter’. A full search strategy is in Fig. 1.
Study selectionThe first reviewer (JH) removed duplicates and screenedtitles for relevance. Full text copies of the potentially rele-vant documents were downloaded for screening. The firstreviewer screened full text documents and excluded thosenot relevant. The remaining titles were independentlychecked by the clinical specialist (TF) using pre-specifiedinclusion/exclusion criteria (outlined in Table 1). Discrep-ancies were resolved by discussion, with involvement of athird reviewer (GR). Twenty-eight documents wereconsidered for analysis, with seven being withdrawn at fullanalysis stage. See Fig. 2 for full details.Guidelines from the International Classification of
Mental and Behavioural Disorders (Tenth edition)(ICD-10) [32] and the Diagnostic and Statistical Manualof Mental Disorders (Fifth edition) (DSM-5) [33] wereconsidered alongside UK relevant guidelines as they areconsidered authoritative sources for the definition ofsymptoms utilized in autism diagnosis, as well as otherneurological conditions.
Data extractionA data extraction framework was created to draw keycharacteristics from the guidelines (year, author, geo-graphical remit, target audience, age range, range ofdiagnoses covered, age at which symptoms are recog-nised, diagnostic criteria referred to); as well as key ele-ments in the diagnostic process (recommended tools,role and composition of the multidisciplinary team(MDT), who can diagnose, assessment targets and keyfeatures of assessment). This framework was piloted with
Table 1 Inclusion and Exclusion Criteria
Inclusion Criteria
Documents with guidance-based status for HCPs working in secondarycare in the UK; or were published papers, aimed at HCPs, with the aimof reviewing CPGs
Documents related to autism diagnosis and assessment for eitherchildren, adults or both
Documents produced either by or through government orprofessional clinical bodies or published in a journal aimed at HCPs
Documents related to diagnosis and assessment in UK (England,Scotland, Wales and N Ireland)
Documents dated from 2009 (reflecting publication of the first UKspecific Autism Act) or were the most recent CPG published by a keyprofessional body
Exclusion Criteria
Documents related solely to referral, treatment, prognosis or supportservices
Reviews of diagnostic criteria and other academic papers
Guidelines related to primary care as we were interested in diagnosisrather than referral
Narrative reviews, editorials and opinions
Documents related to parliament or legislature; national or regionalstrategies as they are not the primary source for clinicians
Local guidance
Guidance provided by private providers of diagnostic services
International professional body guidelines (other than ICD/DSM)
Hayes et al. BMC Psychiatry (2018) 18:222 Page 3 of 25
four reviewers (JH, GR, RW and DE) in a comparison ofanalysis of three guidelines. The framework wasamended accordingly and is included in Additional file 1.Data were independently extracted by two reviewers (JHand HR) from 21 CPGs and disagreements were resolvedby discussion and further checks. Data were tabulatedand analysed.
Analysis of social factorsA modified form of narrative review, as described byPopay et al. [34] and Ferrari [35], was adopted wherebydata extraction enabled synthesis of key data, whilst alsoallowing rich narrative description [35]. Narrative reviewwas selected as it enabled the telling of the ‘story’ ofCPGs, and consideration of how guidelines, as a set oftexts, shape diagnosis [34].A process of inductive analysis was undertaken based
on social factors and influences. These were defined, forthe purpose of this review, as contextual factors that in-fluence diagnosis but are not based on symptoms of aut-ism. We drew from the concept of a social model ofdiagnosis as developed by Jutel and Nettleton [36]. Thismodel considers how diagnostic classifications and med-ical diagnoses are socially created and how social forces– including technological, professional, cultural and
economic forces – contribute to shaping aspects of thediagnostic process including those related to classification,the consequences of diagnosis and the process of diagnosisitself [36]. Overall, a social model challenges the idea ofdiagnosis as ‘a moment of clinical purity’ [37] or as a waysimply to identify underlying biological problems. We in-cluded factors that were relevant to multidisciplinary work-ing or parental/family influence (the process of diagnosis);the potential outcomes of diagnosis for the patient and howHCPs may take this into account (the consequences ofdiagnosis); and how issues around classification shape thediagnostic process such as how borderline cases are dealtwith (diagnosis as a category). This was a dynamic processwhereby data extracts were considered in relation to eachother via conceptual mapping and clustering [34].
TerminologyFor the purposes of this review and in line with the Aut-ism Strategy [38] we use the term ‘autism’ throughout.
ResultsCharacteristics of guidelinesA total of 236 documents were retrieved, and 21 wereincluded in the final narrative review (see Table 3 for fulllist of included documents and guideline characteristics).
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 ineach category
National Clinical Guidelines To offer best practice advice and guidance for professionals and service users and their families
Guidelines from ProfessionalBodies
To offer profession specific advice to clinicians and healthcare professionals in their specialist area
Journal Articles To summarise clinical guidelines in clinician-facing publications to keep clinicians up to date and/or alert them tochanges in good practice
Fig. 1 Full Search Strategy
Hayes et al. BMC Psychiatry (2018) 18:222 Page 4 of 25
The documents studied are grouped into four types: a)International Diagnostic Criteria (n = 2); b) NationalClinical Guidelines (n = 5); c) Journal articles thatsummarize National Clinical Guidelines and the diag-nostic process, published in key clinical journals (n = 10);d) Guidelines from professional bodies (n = 4). It shouldbe noted that journal articles, in some cases, are de-signed to give an update rather than a full guidelinetherefore the lack of detail in some areas should not ne-cessarily be seen as a weakness.Of the 21 guidelines considered, six dealt with diagno-
sis of adults, seven with children and eight with all ages.
Of those, two guidelines were international but key todiagnostic practice in the UK (ICD-10 and DSM-5),five related to the UK as a whole, five to England andWales, one to Scotland, two to Northern Ireland andone to outside the US and Canada (and therefore in-cluded the UK). Five guidelines did not specify a geo-graphical remit but were published in the UK inclinician-facing journals. All guidelines were aimed atHCPs, with six aimed at particular specialist rolesthat included psychiatrists, psychologists, speech andlanguage therapists, community practitioners andpaediatricians.
Fig. 2 Study selection flow diagram
Hayes et al. BMC Psychiatry (2018) 18:222 Page 5 of 25
Table 3 Key characteristics of guidelines
Title Year Author(s) Publisher/Journal
Geographicalremit
Targetaudience
Agerange
Range ofdiagnosescovered
Diagnosticcriteriareferred to
Age at whichsymptoms arerecognised
DIAGNOSTIC CRITERIA
The ICD-10Classificationof Mental andBehaviouralDisorders:clinical de-scriptions anddiagnosticguidelines[32]
1993 N/A World HealthOrganisation
International Clinical,educationaland serviceuse
All ages Pervasivedevelopmentdisorders
N/A Before age of3 years(childhoodautism); after age3 (atypicalautism).
Diagnosticand StatisticalManual ofMentalDisorders(Fifth Edition)[33]
2013 N/A AmericanPsychiatricAssociation
International Clinicians,students,practitioners,researchers
All ages AutismSpectrumDisorder
N/A During 2nd yearof life (12–24 months) orearlier than12 months ifdevelopmentaldelays are severe
NATIONAL CLINICAL GUIDELINES
NICE Autismin under 19 s:recognition,referral anddiagnosis(NICE CG128)[39]
2011 NationalCollaboratingCentre forWomen’s andChildren’sHealth
NationalInstitute forHealth andCareExcellence(NICE)
England andWales
Healthcareprofessionals
Frombirth upto19 years
Pervasivedevelopmentaldisorder (PDD)
ICD-10 orDSM-IV
May beuncertaintybefore24 months, orwithdevelopmentalage of less than18 months
Six Steps ofAutism Carefor childrenand youngpeople inNorthernIreland(RASDN) [44]
2011 RegionalAutisticDisorderNetwork forNorthernIreland
Health andSocial CareBoard
NorthernIreland
Health careand educationprofessionals,parents, carers,service usersand providers.
Up tothe ageof18 years
Autismspectrumdisorder
ICD-10, DSM-IV, NICE, SIGN,NZ Guide-lines, NHSMap ofMedicine
Pre-school.Language delayby the age oftwo years.
AutismSpectrumDisorder inadults:diagnosis andmanagement(NICE CG142)[9]
2012 NationalCollaboratingCentre forMental Health
NationalInstitute forHealth andCareExcellence(NICE)
England andWales
Health andsocial careproviders andcommissioners
Adultsaged 18and over
Autismspectrumdisorders
N/S*ICD-10specified infull version ofCG142 [62]
N/A
Autism AdultCare Pathway(RASDN) [54]
2013 RegionalAutisticSpectrumDisorderNetwork
Health andSocial CareBoard
NorthernIreland
Professionals,adults andfamilies
Adultsfrom age18
Autismspectrumdisorders
DSM-5 andICD-10, NICEguidanceCG142.
N/S
Assessment,diagnosis andinterventionsfor autismspectrumdisorders: Anationalclinicalguideline(SIGN 145)[10]
2016 N/A ScottishIntercollegiateGuidelinesNetwork
Scotland Healthcareprofessionals
Wholeagerange
Autismspectrumdisorder
ICD-10 andDSM-5
Autism can bereliablydiagnosedbetween theages of 2–3.
Hayes et al. BMC Psychiatry (2018) 18:222 Page 6 of 25
Table 3 Key characteristics of guidelines (Continued)
Title Year Author(s) Publisher/Journal
Geographicalremit
Targetaudience
Agerange
Range ofdiagnosescovered
Diagnosticcriteriareferred to
Age at whichsymptoms arerecognised
GUIDELINES FROM PROFESSIONAL BODIES
RCSLT (RoyalCollege ofSpeech andLanguageTherapistsClinicalGuidelines(Autism) [41]a
2005 N/A Royal Collegeof Speech andLanguageTherapists
UK Speech andlanguagetherapists
Childrenandadults
Autismspectrumdisorder
ICIDH-2 (forgeneralclinicalassessment)
N/S
Good practicein themanagementof autism(includingAspergersyndrome) inadults(RCPychCR191) [11]
2014 Royal CollegeofPsychiatrists
Royal Collegeof Psychiatrists
UK Psychiatristsworking withadults of atleast normalintellectualability
Adultsfrom age18
Autism ICD-10, DSM-5, NICE, 2012.
N/S
AutismSpectrumDisorders:Guidance forPsychologists(BPS) [40]b
2016 Stuart-Hamilton,Dillenburger,Hood &Austin
BritishPsychologicalSociety
UK Psychologists All ages AutismSpectrumDisorder
ICD-10 andDSM-5, NICE,2011.
Both diagnosticmanuals considerASD indicators tobe present by theage of 36 monthsalthough somechildren can beidentified underthe age of24 months.
BMJ BestPracticeonlineresource [43]
2017 Parr&Woodbury-Smith
British MedicalJournal
Outside USand Canada
MedicalPractitioners
All ages AutismSpectrumDisorder
DSM-IV, DSM-5 & ICD-10.NICE, SIGN,AACAP, AAP,NZ ASDguideline,AAN
More than 80%of children withASD show clearbehavioural signsby the age of24 months, someindicators in 12–18 months
JOURNAL ARTICLES
Diagnosis andmanagementof autism inchildhood[47]
2011 Blenner,Reddy &Augustyn
British MedicalJournal
N/S Generalclinicians
Children AutismSpectrumDisorder
DSM-IV TR orICD-10
N/S
Diagnosis andassessment inautismspectrumdisorders [48]
2012 Carpenter Advances inMental HealthandIntellectualdisabilities
N/S Thosedesigning andprovidingdiagnosticservices
All ages AutismSpectrumDisorder
DSM-IV TR orICD-10. Gill-berg’s for AS.There areothers butfew use them(Kopra et al.,2008; Chiap-pedi et al.,2010).
N/S
Autismspectrumdisorder inadults: clinicalfeatures andthe role ofthepsychiatrist[49]
2013 Garland,O’Rourke &Robertson
Advances inPsychiatricTreatment
UK Psychiatrists Adults AutismSpectrumDisorders
ICD-10 andDSM-5, NICE
To satisfy ICD-10criteria for child-hood autism, im-pairments mustmanifest beforethe age of3 years
Hayes et al. BMC Psychiatry (2018) 18:222 Page 7 of 25
Guidelines acknowledged that there is variation in ratesof identification, assessment criteria and practice [9]; thatthere is increasing demand for diagnostic services [39]; andthat increased awareness of autism is likely to lead to a risein people presenting for assessment [40].
Definitions of autismDefinitions of autism in ICD-10 and DSM-5 differed.ICD-10 took a categorical approach with a definition ofPervasive Development Disorders that includedsub-diagnoses within it; whilst DSM-5 used the overarching
Table 3 Key characteristics of guidelines (Continued)
Title Year Author(s) Publisher/Journal
Geographicalremit
Targetaudience
Agerange
Range ofdiagnosescovered
Diagnosticcriteriareferred to
Age at whichsymptoms arerecognised
Recognising,referring anddiagnosingautism [45]
2012 Howlett &Richman
Every ChildJournal
England andWales
Professionalsworking withchildren andyoung people
Childrenandyoungpeople
Autism NICE The core autismbehaviours aretypically presentin earlychildhood; butfeatures canappear differentwith age orchange withcircumstances
Autism [50] 2013 Lai,Lombardo &Baron-Cohen
The Lancet N/S N/S All ages Autism or theautismspectrum
DSM-5, ICD-10
N/S
Autism [51] 2009 Levy, Mandell& Schultz
The Lancet N/S N/S N/S butprimarilytalksaboutchildren
AutismSpectrumDisorder
DSM-IV andICD-10
Parents oftenaware from age18 months, adiagnosis is oftennot made until2 years after theinitial expressionof parentalconcern.
Autismspectrumdisorder:diagnosis andmanagement[53]
2009 O’Hare Archives ofDisease inChildhood:Education andPracticeEdition
N/S butrelatesprimarily toSIGNguidelines
Paediatricians Childrenandyoungpeople
AutismSpectrumDisorder
ICD-10 andDSM-IV, SIGN
N/S
Recognition,referral,diagnosis,andmanagementof adults withautism:summary ofNICEguidance [58]
2012 Pilling, Baron-Cohen,Megnin-Viggars, Lee &Taylor
British MedicalJournal
England andWales
N/S Adults Autism N/S N/S
AutismSpectrumDisorders inchildhood: aclinicalupdate [46]
2011 Reynolds CommunityPractitioner
UK Communitypractitioners
Children AutismSpectrumDisorder
ICD-10, DSM-IV
N/S
The NICEguideline onrecognition,referral,diagnosis andmanagementof adults onthe autismspectrum [52]
2014 Wilson,Roberts,Gillan, Ohlsen,Robertson &Zinkstok
Advances inMental HealthandIntellectualDisabilities
England andWales
Health careprofessionals,servicemanagers,service users,practitioners
All adults Autismspectrumdisorder
N/S N/S
aPre 2009 but constitutes current guideline in use from RCSLTbCurrently under review but represents the most recent published guideline from BPS
Hayes et al. BMC Psychiatry (2018) 18:222 Page 8 of 25
dimensional concept of Autism Spectrum Disorder. Someinconsistencies were present related to the differences inclassification in ICD-10 and DSM-5, therefore, for example,Rett’s Syndrome and Asperger’s Syndrome weresub-diagnoses of Pervasive Development Disorders inICD-10, but were encompassed in the overarching diagno-sis of Autism Spectrum Disorder in DSM-5 [32, 33]. Defini-tions of autism in all other guidelines considered in thisstudy were broadly consistent with the idea of a ‘spectrum’.Most guidelines (n = 14) referred to symptom criteria
from both ICD-10 and the (then) current version ofDSM (DSM-IV up to 2012 and DSM-5 from 2013), witheight guidelines recommending that HCPs should usethe current version of DSM or ICD criteria for diagnosis.Exceptions were NICE CG142, which was based onICD-10, [9]; Royal College of Speech and LanguageTherapists (RCSLT) [41], which drew on the Inter-national Classification of Functioning, Disability andHealth (ICIDH-2) for general clinical assessment [42];and journal articles describing NICE guidelines whichmade no mention of DSM/ICD (n = 3).Overall, therefore, the guidelines were mixed in their
recommended sources for symptom criteria due to thecurrent differences in the two classification systems.
Narrative review of social factorsWe used three inter-related elements as an organisingframework to describe the social factors identified inclinical guidelines: operational, interactional and con-textual. These factors do not stand alone from eachother, indeed, they appear to have a dynamic andinter-dependent relationship, however, organising themprovides a way to map their range and scope (see Fig. 3).
Operational factorsOperational factors included how different assessmentprocesses impact on the diagnostic decision, such aswhich tools and processes are engaged and when; whatconstitutes an assessment; and whether the decisionstake place as part of diagnosis or formulation. Table 4outlines some of these operational factors.
The assessment processOne guideline suggested that clinical practice variesgreatly [43] and we found this to be mirrored in CPGswith a wide range of potential assessment processes in-cluded. DSM-5 recommended that a diagnostic assess-ment should include gathering multiple sources ofinformation from clinician’s observations, caregiver
Fig. 3 Social factors in clinical guidelines
Hayes et al. BMC Psychiatry (2018) 18:222 Page 9 of 25
history and self-report (where possible). National guide-lines, although providing far greater detail, tended toinclude these areas and additionally suggested various otherdetailed assessments such as gathering wider functional/as-sessment information [10]; using documentary evidence,assessing risks, and assessment of challenging behaviour[9]; assessing for co-conditions [9, 39]; physical examination[39]; comprehensive educational assessment [44]; assess-ment of communication, neuropsychological functioning,motor and sensory skills, and adaptive functioning [10].Professional guidelines added other factors such as compre-hensive cognitive assessment [40] and impact of individual’smental health [41], accounts of relationships in differentsettings [11] and observation in school or another setting[43]. Journal articles tended to reflect national guidelinesand varied in the level of detail outlined for assessment fac-tors. Two articles gave little detail of assessment processesbut one referred readers directly to NICE guidelines for fur-ther detail [45] and the other was aimed at communitypractitioners who would be more likely to be involved in re-ferral than diagnosis [46]. Articles also included assessmentof co-occuring conditions (e.g. [47–52]) and a physical ormedical examination (e.g. [47, 50]). Additional assessmentareas included assessment of specific domains such as fam-ily stressors and coping abilities [47]. In one guideline [48]it was suggested that some clinicians bypass ICD/DSM cri-teria and instead undertake:
‘…testing for specific underlying difficulties such aslack of theory of mind or lack of central coherenceand then using these to decide the presence of thebehavioural criteria’ [48].
The RCSLT guideline [41] differed from most by sug-gesting consideration of theories relating to the triad ofsocial impairments, such as executive functioning defi-cits, motivation, memory and central coherence, as wellas social interaction and communication. However, some(e.g. [40]) suggested cognitive or neuropsychologicaltesting whilst SIGN guidelines stated that such assess-ments are ‘useful for individual profiling but are notdiagnostic instruments’ [10]. This anomaly may reflectthe specialist role of SLTs in the diagnostic process.Overall, we would concur with a reflection in one
guideline, which noted how the HCP may be faced with‘possible uncertainty as to where to go next in their in-vestigation framework as this could be potentially enor-mous’ [53].
Diagnostic toolsRecommendations about the use of diagnostic tools weremixed. One third of the guidelines (n = 7) did not specifyany particular tool for diagnostic assessment. OtherCPGs tended to suggest the consideration of a range of
tools without specifically recommending any particularinstrument(s), although regular references were made toADOS (n = 13), ADI-R (n = 11), DISCO (n = 9) and 3di(n = 6). The NICE guideline for children and youngpeople emphasised use of DSM/ICD criteria rather thantools; the NICE guideline for adults did the opposite [9,39]. Overall, findings concurred with Penner et al. inthat guidelines varied substantially in their recommenda-tions for use of diagnostic tools [29].
Diagnosis and formulationThere were differences in the way guidelines describedthe relationship between, or referred to, diagnosis,assessment, profiling, needs assessment and widerformulation. All guidelines encompassed the concept ofa wider (needs related) assessment but few explicitly sep-arated out these processes or discussed how this relatedto a diagnostic assessment. One exception to this wasthe Regional Autistic Spectrum Disorder Network(RASDN) children’s guideline, which separated the diag-nostic from the formulation process, describing thelatter as including examination of the person’s widerenvironment:
‘The outcome of the formulation should be tounderstand an individual in a more global holistic wayrather than merely in terms of signs and symptoms,as in the case of diagnosis’ [44].
The RCPsych guideline suggested that diagnosis isonly one component of the wider multidisciplinary exer-cise [11]. Some guidelines did not mention formulationbut suggested a profile of strengths, abilities and weak-nesses should be carried out alongside a diagnosticassessment (e.g. [10, 39]). Adult guidelines from RASDNseparated out a diagnostic assessment from a full needsassessment [54]; NICE guidelines for adults consideredcomprehensive assessment to include diagnostic,needs and risk assessment [9]; whilst the full chil-dren’s guidelines similarly brought together the diag-nostic and needs elements under ‘autism diagnosticassessment’, explaining that:
‘..the label of autism does not constitute a completediagnostic assessment and a profile of the child oryoung person’s strengths and weaknesses is alsoessential. This requires a multidisciplinary team whichhas the skills to undertake the assessments necessaryfor profiling’ [55].
Operationally, therefore, there were contradictionsbetween guidelines about what constitutes the diagnosticprocess, how it should be structured and which diagnos-tic tools should be used.
Hayes et al. BMC Psychiatry (2018) 18:222 Page 10 of 25
Table
4Keydiagno
sticrecommen
datio
ns
CPG
Recommen
dedtools
MDTrecommen
ded
MDTmem
bership
Assessm
enttargets
Keyfeatures
ofassessmen
t
DIAGNOST
ICCRITE
RIA
ICD-10
(1993)
[32]
N/S
N/S
N/S
N/S
Diagn
oseon
thebasisof
behaviou
ral
features
DSM
-5(2013)
[33]
Nospecifictool
N/S
N/S
N/S
Careful
clinicalhistory&summaryof
social,p
sycholog
ical&biolog
ical
factors.
Multip
lesourcesof
inform
ation:
•clinician’sob
servations
•caregiverhistory
•self-repo
rt(whe
repo
ssible)
Clinicaljudg
emen
t
NATIONALCLINICALGUIDELINES
NICE
CG128
(2011)
[39]
Nospecifictool
recommen
ded
Autism
team
mem
bersshou
ldcarry
outassessmen
t(sho
rtversion).A
diagno
siscanbe
madeby
asing
leexpe
rienced
HCP;profile
ofstreng
ths
&weaknessesisessential,and
requ
iresMDT[55]
(fullversion).
Autism
team
madeup
ofPaed
iatrician&/or
Child
&Ado
lescen
tPsychiatrist,SLT,Clinical&/or
EducationalP
sycholog
ist&access
topaed
iatrician/paed
iatricne
urolog
ist,
Child
&Ado
lescen
tPsychiatrist,
EducationalP
sycholog
ist,Clinical
Psycho
logist,O
T,ifno
tin
team
.Also
consider
specialisthe
alth
visitoror
nurse,specialistteache
ror
social
worker.
Starttheautism
diagno
stic
assessmen
twith
in3mon
ths
ofreferral.Follow
upappo
intm
entwith
in6weeks
ofassessmen
t.
Seek
repo
rtfro
mthepre-scho
olor
scho
ol;g
athe
radditio
nalh
ealth
orsocialcare
inform
ation.Includ
ein
everyautism
diagno
sticassessmen
t:•qu
estio
nsabou
tparent/carer/child’s
concerns
•de
tails
ofthechild’sexpe
riences
ofho
melife,ed
ucationandsocialcare
•de
velopm
entalh
istory,focusingon
developm
entaland
behaviou
ral
features
•assessmen
t(throu
ghinteraction
with
andob
servationof
thechild
oryoun
gpe
rson
)of
socialand
commun
icationskillsand
behaviou
rs•med
icalhistory,includ
ingpren
atal,
perin
atalandfamily
history,and
pastandcurren
the
alth
cond
ition
s•ph
ysicalexam
ination
•considerationof
thedifferential
diagno
sis
•system
aticassessmen
tfor
cond
ition
sthat
may
coexistwith
autism
•de
velopm
entof
aprofile
ofthe
child’sor
youn
gpe
rson
’sstreng
ths,
skills,im
pairm
entsandne
edsthat
canbe
used
tocreate
ane
eds-
basedmanagem
entplan,taking
into
accoun
tfamily
anded
ucational
context
•commun
icationof
assessmen
tfinding
sto
theparent/carer/child
Hayes et al. BMC Psychiatry (2018) 18:222 Page 11 of 25
Table
4Keydiagno
sticrecommen
datio
ns(Con
tinued)
CPG
Recommen
dedtools
MDTrecommen
ded
MDTmem
bership
Assessm
enttargets
Keyfeatures
ofassessmen
t
RASD
N(2011)
[44]
Nospecifictool
Theuseof
MDTapproach
isne
cessary
Involvingat
leasttw
odisciplines:
paed
iatrician;child
psychiatrist;SLT,
OT,clinicalpsycho
logist;spe
cialist
health
visitor;men
talh
ealth
practitione
r(CAMHS);socialw
orker;
nurse;ed
.psych.Teacher;other
traine
dprofession
als
Referralscreen
edwith
in5days.Infoprovided
with
in4weeks.13weeks
tofirst
appo
intm
ent.Feed
back
with
in4weeks,rep
ortwith
in6weeks
ofform
ulation.
Step
one:Initialdirected
conversatio
n.Step
two:Integrated
multid
isciplinary
team
assessmen
t(leadsto
diagno
sis/
non-diagno
sis)includ
es:
•med
icalhistoryinc:birthhistory,
family
history,&ge
neralm
edical
concerns
•de
velopm
entalh
istory
focusing
onde
velopm
ental&
behaviou
ral
concerns
•ob
servationalassessm
entof
the
child/you
ngpe
rson
•furthe
rassessmen
t/ob
servations
inanothe
rsetting(schoo
l/hom
e)•ph
ysicalexam
insomegrou
ps•specificassessmen
tsmay
berequ
ired,
e.g.
SLTassessmen
t•ed
ucationalassessm
ent
Step
three:Integrated
MDT
form
ulation(leadsto
wider
unde
rstand
ingof
difficulties)
Step
four:fam
ilyfeed
back
andcare
planning
NICE
CG142
(2012)
[9]
Iden
tification:Con
side
rAQ-10(with
-ou
tLD
);Briefassessmen
t(with
LD).
Diagn
osisandassessmen
t:AAAin-
clud
ingAQandEQ
;ADI-R;A
DOS-G;
ASD
I;RA
ADS-R(with
outLD
).ADOS-G;
ADI-R
(with
LD);DISCO,A
DOS-G,A
DI-
R
Com
preh
ensive
assessmen
tshou
ldbe
team
based(sho
rtversion).A
ta
minim
umby
aqu
alified
clinician
usually
aclinicalpsycho
logist,
psychiatristor
neurolog
ist[62]
(full
version).
Specialistautism
team
madeup
of:
ClinicalPsycho
logists,Nurses,OTs,
Psychiatrists,SocialW
orkers,SLTs,
Supp
ortStaff
N/S
Duringacompreh
ensive
assessmen
t,en
quire
abou
tandassess
the
following:
•core
autism
sign
sandsymptom
sthat
have
been
presen
tin
childho
odandcontinuing
into
adulthoo
d•early
developm
entalh
istory,w
here
possible
•be
haviou
ralp
roblem
s•functio
ning
atho
me,in
education
orin
employmen
t•pastandcurren
tph
ysicaland
men
tald
isorde
rs•othe
rne
urod
evelop
men
tal
cond
ition
s•hype
r-and/or
hypo
-sen
sory
sensitiv-
ities
andattentionto
detail.
Direct
observationof
core
autism
sign
sandsymptom
sespe
ciallyin
socialsituations.
Assessforpo
ssibledifferential
diagno
sesandcoexistin
gdisorders
Assessrisks;D
evelop
care
plan,
providehe
alth
passpo
rt,con
side
r
Hayes et al. BMC Psychiatry (2018) 18:222 Page 12 of 25
Table
4Keydiagno
sticrecommen
datio
ns(Con
tinued)
CPG
Recommen
dedtools
MDTrecommen
ded
MDTmem
bership
Assessm
enttargets
Keyfeatures
ofassessmen
t
24hcrisismanagem
entplan;A
ssess
challeng
ingbe
haviou
rCon
side
rfurthe
rinvestigations
onindividu
albasis
RASD
N(2013)
[54]
Screen
ing:
GADS,GARS-2,A
ASQ
,ASA
S,NAS,AQ-10History:A
DI-R,
DISCO,A
SDI,RA
ADS-R;
Direct
assessmen
t:ASIT,HSST,SSQ,
Observatio
n:ADOS-G
Diagn
osismustbe
team
based&
draw
onarang
eof
profession
als.
Atleasttw
oof:clinicalpsycho
logy
(core),p
sychiatry,SLT,LD
/MH
nursing;
OT,othe
rapprop
riately
traine
dprofession
als.
Finalrep
ortto
beprovided
with
in6weeks
ofassessmen
t.
Asan
absolute
minim
um,elemen
ts2,
3&4mustbe
includ
edin
the
assessmen
t.1.Neurode
velopm
entalh
istory,
corrob
orated
viarelative/family;
2.Direct
autism
specificassessmen
twith
individu
al;
3.Observatio
nalrecording
ofassessmen
tsessions;
4.Clinicaljudg
emen
t.May
also
includ
e;standardized
measure
ofadaptivefunctio
ning
;assessmen
tof
lang
uage
&commun
icationskills;functio
nal
assessmen
tof
prob
lematicbe
haviou
r;fullne
edsassessmen
t
SIGN145
(2016)
[10]
Iden
tification:AQ-10Diagn
osisand
Assessm
ent:E.g.
ADI-R,D
ISCO,3di,
CARS,C
ARS-2,A
DOS-G.N
APC
and
RCPsychgu
ides.
MDT…
shou
ldbe
considered
asthe
optim
umapproach
Expe
rienced
profession
als
N/S
•History
taking
(inform
antinterview):
pren
atal,p
erinatal&de
velopm
ental
history;de
scrip
tionof
thecurren
tprob
lemsexpe
rienced
;fam
ilyhistory;de
scrip
tionof
who
isin
family;coe
xistingcond
ition
sand
differentiald
iagn
oses
•Clinicalob
servation/assessmen
t(individu
alassessmen
t/interview):
directlyob
serve&assess
the
individu
al’ssocial&commun
ication
skillsandbe
haviou
r•Con
textualand
functio
nal
inform
ationfro
mavariety
ofsettings
andpe
ople
•Profile
oftheindividu
al’sstreng
ths
anddifficulties:com
mun
ication,
cogn
itive,neuropsycho
logicaland
adaptivefunctio
ning
;motor
and
sensoryskills
•Biom
edicalinvestigations
onan
individu
albasiswhe
nclinically
relevant
•Assessm
entof
men
talh
ealth
need
s,wellbeing
andriskshou
ldbe
considered
Hayes et al. BMC Psychiatry (2018) 18:222 Page 13 of 25
Table
4Keydiagno
sticrecommen
datio
ns(Con
tinued)
CPG
Recommen
dedtools
MDTrecommen
ded
MDTmem
bership
Assessm
enttargets
Keyfeatures
ofassessmen
t
GUIDELINES
FROM
PROFE
SSIONALBODIES
RCSLT
(2005)
[41]
N/S
Shou
ldalwaysbe
multid
isciplinary&
multi-agen
cyto
achieveop
timum
bene
fit.
Thismay
includ
eSLT,child
psycho
logy,child
psychiatry,clinical
psycho
logy,p
aediatrician,EdPsych.,
OT&teache
r
N/S
Duringassessmen
t,consideration
mustbe
givento
thetriadof
social
impairm
ents,aswellastheo
ries
relatin
gto
thetriad,
forexam
ple
sensorysensitivity
andintegration;
intersub
jectivity;executive
functio
ning
deficits;m
otivation;
mem
oryandcentralcoh
eren
ce.
•Jointattention
•Readiness&ability
tofocus&shift
attention
•Socialinteraction
•Use
ofcommun
icativestrategies
•Evaluatio
nof
child’splay
•Info
abou
tlearning
potential
•Im
pact
ofindividu
al’smen
talh
ealth
RCPsych
(2014)
[11]
Iden
tification:AQ,RAADS-R.RPsych
Guide
.Questionn
aires:ASA
S,GARS,
GARS-2,SCQ,SRS-2,A
Q,A
Q-10,
RAADS-R,SC
DS,ABC
.Diagn
ostic
in-
terviews:ADI-R,A
DOS-2,DISCO,3Di,
AAA,RPsychGuide
,PDD-M
RS,A
SDI,
CARS-2,H
BS,W
ADIC
Assessm
entfor
associated
devdisabilities:AQ,EQ,
SQ,Faces
test,eyestest,FauxPas
Recogn
ition
Test,SSQ
,Dew
ey’sSocial
Stories,Adu
lt/Ado
lescen
tsensory
profile
NICEadvocatesmultid
isciplinary
exercise,b
utpsychiatristsmight
beexpe
cted
todiagno
sestraightforw
ardcases&be
alertto
indicatio
nsforamorespecialist
assessmen
t.
MDTusually
includ
espsycho
logy
&nu
rsingas
core
mem
bership
N/S
•Speakwith
inform
ant
•Take
neurod
evelop
men
talh
istory
•Con
side
rob
tainingearly
health
records
Might
includ
eassessmen
tfor;
cogn
itive
ability,fun
ctionalability,
coexistent
neurod
evelop
men
tal
disabilities,coexistent
psychiatric
disorders,men
talcapacity,riskof
harm
/offend
ing,
med
icalprob
lems
Whe
reverpo
ssible,itisessentialthat
thecliniciange
tsaccurate
accoun
tsof
relatio
nships
indifferent
settings
(e.g.atwork&at
home),p
articularly
whe
rethey
might
bemore
demanding
forthat
individu
al.
BPS(2016)
[40]
e.g.ADOS,ADI,DISCO,A
DI-R
Itisrecommen
dedthat
assessmen
tismultid
isciplinary.
Atleaston
epsycho
logist,inadditio
nto
othe
rrelevant
person
nel,such
asOTs,m
entalh
ealth
workersetc.
Itisrecommen
dedthat
assessmen
tistim
ely.
Thetaking
ofade
velopm
ental
historywith
carersas
wellas
observationacross
different
settings.
Inform
ationfro
marang
eof
sources.
Psycho
logistscontrib
utionto
iden
tificationandassessmen
tmay
includ
e:•Assessm
entof
protectivefactors,
streng
thsandabilities
•Assessm
entof
associated
men
tal
health
issues
•Com
preh
ensive
developm
entaland
family
history
•Assessm
entof
learning
styles
•Assessm
entof
streng
thsandof
barriersto
learning
Hayes et al. BMC Psychiatry (2018) 18:222 Page 14 of 25
Table
4Keydiagno
sticrecommen
datio
ns(Con
tinued)
CPG
Recommen
dedtools
MDTrecommen
ded
MDTmem
bership
Assessm
enttargets
Keyfeatures
ofassessmen
t
•Assessm
entof
environm
ental
cond
ition
sforlearning
•Functio
nalb
ehaviouralassessmen
t•Assessm
entof
social
commun
icationstyle
•Assessm
entof
thene
edsof
families.
•Com
preh
ensive
cogn
itive
assessmen
t,which
may
includ
epsycho
metricsifde
emed
necessary
BMJ
(2017)
[43]
Screen
ing:
CHAT,M-CHAT
Parentalqu
estio
nnaires:SC
Q,C
AST,
CARS;for
adults,the
SRS,ASQ
.Diagn
osisandAssessm
ent:eg
ADOS-
G,A
DI-R;3di;D
ISCO
Diagn
osisshou
ldbe
confirm
edor
madeby
anapprop
riatelytraine
dprofession
al,ide
allyworking
aspart
ofMDT
Paed
iatricians,child
psychiatrists,
adultpsychiatristsor
psycho
logists,&
othe
rprofession
als
N/S
Acombinatio
nof:
•ne
urod
evelop
men
talh
istory
•standardised
interview,&
•ob
servationalassessm
ent
Gathe
rinform
ationabou
tfunctio
ning
inmorethan
oneen
vironm
ent;Afull
neurolog
icalexam
inationinclud
ing
measuremen
tof
head
circum
ference
isroutinelype
rform
edin
allchildren.
JOURN
ALART
ICLES
Blen
neret
al(2011)
[47]
Screen
ing:
CHAT,PD
DST,STA
T,CHAT-23,M
-CHAT,ITC,SCQ.
Diagn
osis:A
DOS.
Paed
iatricne
urolog
ists,
developm
ental&
behaviou
ral
paed
iatricians,child
psychiatristsor
psycho
logists,or,ide
ally,M
DT.
N/S
N/S
Com
preh
ensive
evaluatio
nthat
includ
es•lifetim
e&family
history
•review
ofmed
ical&ed
ucational
records
•be
haviou
ralo
bservatio
n•ph
ysicalexam
ination
•administrationof
standardised
instrumen
tssuch
astheautism
diagno
sticob
servationsche
dule
•cogn
itive
&adaptiveassessmen
t•review
ofestablishe
dDSM
orICD
diagno
sticcriteria
•Assessm
entof
specificdo
mains,
such
ascommun
icationskills,
sensoryandmotor
prob
lems,and
family
stressorsandcoping
abilities
•Look
forcauses
&co-occuringcon-
ditio
ns(fu
rthe
rtests)
Carpe
nter
(2012)
[48]
Screen
ing:
ASD
ASQ
,AQandEQ
,AAA.A
Q-10,RA
ADS-R.RC
Psych
guide.
Observatio
n:PD
D-M
RS(with
ID);
ADOS-G.
Interview:A
DI-R,D
ISCO,3Di.
AAAto
providestructure.
Diagn
osiscanbe
madeby
one
clinician.Wider
assessmen
trequ
ires
ateam
.Avariety
ofprofession
alscan
diagno
se.
N/S
Labo
urintensive-up
to8h
tomake&do
cumen
tdiagno
sis.
Threeelem
ents(judg
edagainst
criteria
ofICD-10or
DSM
-4):
•interview
with
person
•ob
servation
•interview
with
aninform
ant
Someclinicians
bypass
thecriteria
&test,for
exam
ple,theo
ryof
mind,
centralcoh
eren
ce.
Con
side
rpo
ssibleco-m
orbidities
Hayes et al. BMC Psychiatry (2018) 18:222 Page 15 of 25
Table
4Keydiagno
sticrecommen
datio
ns(Con
tinued)
CPG
Recommen
dedtools
MDTrecommen
ded
MDTmem
bership
Assessm
enttargets
Keyfeatures
ofassessmen
t
Holistic
assessmen
tsne
edsto
bestructured
arou
nd:
•Needforsocialsupp
ortandforhe
lpwith
employmen
t•Sensoryandprocessing
difficulties
•Med
icalissues
•Neuro-psychiatriccond
ition
s•Practicalskills,includ
ingmotor
difficulties
•Socialinteractionskills
•Em
otionalu
nderstanding
(ofself
andothe
rs)andpe
rson
alcoping
strategies
•Interestsandpreo
ccup
ations
•Sexualinterestsandfuture
desires
•Insigh
tandfuture
desiresand
motivation
•Psychiatric
concerns
•Other
behaviou
rsthat
may
get
person
into
contactwith
thelaw
•Supp
ortforcarers
Garland
etal.(2013)
[49]
Screen
ing:
AQ-50,AQ-10
Diagn
osis:A
DI-R,A
DOS=G,RCPsych
Diagn
ostic
Interview
Guide
Whe
nmen
talh
ealth
difficulties
also
exist,theexpe
rtiseof
thewider
MDT
islikelyto
been
gage
d.
Outlines
psychiatrist’s
role.
Enou
ghtim
eshou
ldbe
set
aside
•History
ofpresen
tingcomplaint
•Psychiatric
history
•Family
history
•Med
icalhistory
•Develop
men
talh
istory
•Person
al&socialhistory
•Men
talstate
exam
ination
•Assessforcomorbiddisordersinc.
neurod
evelop
men
tdisorders
•Ph
ysicalassessmen
t•Functio
nallevelassessmen
t•Assessrisk
•Assessm
entof
care
&supp
ortne
eds
•Con
side
ratio
nof
need
inareasof
education&em
ploymen
t
How
lett&
Richman
(2011)
[45]
Nospecifictool
Ifthelocalautism
team
does
not
have
theskillsto
assess
these
childrenthem
selves,the
yshou
ldliaisewith
profession
alswho
areable
todo
so
Minim
um,p
aediatrician&/or
child
&adolescent
psychiatrist,SLT&clinical
&/or
Ed.Psych.O
ther
profession
als…
specialisthe
alth
visitor,nu
rse,
specialistteache
r,socialworker
Timely&approp
riate.Follow
upappo
intm
entwith
insix
weeks
ofassessmen
t
Shou
ldprovidede
tailed
developm
entalp
rofile.Basedon
NICE
guidance.
Laiet
al.......
(2013)
[50]
Screen
ing:
CHAT,ESAT,M-CHAT,ITC,
Q-CHAT,STAT(fo
ryoun
gchildren);
SCQ,SRS,SRS-2,C
AST,A
SSQ,A
Q(fo
rolde
rchildrenandadolescents);A
Q,
RAADS-R(FORADULTS).D
iagn
osis
andassessmen
t:ADI-R,D
ISCO,3Di
(forstructured
interview);ADOS,
Assessm
entne
edsto
bemultid
isciplinary
N/S
N/S
•Interview
with
theparent
orcaregiver
•Interactionwith
theindividu
al•Collectionof
inform
ationabou
tbe
haviou
rin
commun
itysettings
•Cog
nitiveassessmen
ts•Med
icalexam
ination
•Co-occurringcond
ition
s
Hayes et al. BMC Psychiatry (2018) 18:222 Page 16 of 25
Table
4Keydiagno
sticrecommen
datio
ns(Con
tinued)
CPG
Recommen
dedtools
MDTrecommen
ded
MDTmem
bership
Assessm
enttargets
Keyfeatures
ofassessmen
t
ADOS-2,CARS,C
ARS-2
(observatio
nal
measure).
Levy
etal
(2009)
[51]
SCREEN
ING:Q
-CHAT,M-CHAT,FYI,
ECI-4,C
SI-4,SCQ
,ASD
S,KA
DI,AQ-
Child,A
(AUTISM
)ABC
(autism),
PDDRS,PDD-M
RS,D
BC,D
BC-ES,
PDDBI,A
BC(abe
rrant),
CCC,
SRS,RBS-
R,SC
DC.D
iagn
osisandassessmen
t:PIA-CV,DISCO,A
DI-R,3Di.CHAT,
STAT,AOSI,A
DOS,CARS
Theseassessmen
tsshou
ldbe
multid
isciplinary
TheMDTshou
ldinclud
eclinicians
skilled
inspeech
&lang
uage
therapy,
occupatio
nalthe
rapy,edu
catio
n,psycho
logy,&
socialwork.
•Use
ICDor
DSM
criteria
•Coreandcomorbidsymptom
s,cogn
ition
,langu
age,&adaptive,
sensory,&motor
skills.
•Review
ofcaregiverconcerns,
descrip
tions
ofbe
haviou
r,med
ical
history,&qu
estio
nnaires.
•Includ
estage1data.
•Observatio
nsacross
settings
•Cog
nitive,commun
ication,&ASD
-specificassessmen
t•Med
icalassessmen
t•Differen
tiald
iagn
osis
O’Hare
(2009)
[53]
Screen
ing:
M-CHAT,NAPC
Che
cklist
Diagn
osis:A
DOS-G,SRS
Amultid
isciplinarydiagno
stic
approach
isrecommen
ded
Paed
iatricians
areessentialm
embe
rs.
N/S
•Direct
clinicalstructured
observations
•Criticalthat
inform
ationisgathered
from
different
settings,outwith
the
clinic–therearestructured
questio
nnairesforparents/teache
rs•Ph
ysicalexam
andothe
rspecialist
testsas
requ
ired
Pilling
etal.(2012)
[58]
Iden
tification:AQ-10.
N/S
N/S
N/S
Inqu
ireabou
t&assess
thefollowing:
•Coreautism
sign
s&symptom
s•Early
developm
entalh
istory
•Behaviou
ralp
roblem
s•Functio
ning
atho
me,ed
ucation,
employmen
t•Past¤
tph
ysical&men
tal
disorders
•Other
neurod
evelop
men
tal
cond
ition
s•Neurologicald
isorde
rs(fo
rexam
ple,
epilepsy)
•Com
mun
icationdifficulties
•Hypersensory&/or
hypo
sensory
sensitivities&attentionto
detail
•Carry
outdirect
observationof
core
autism
sign
s&symptom
sespe
cially
insocialsituations
•Functio
nalanalysis
Reynolds
(2011)
[46]
Nospecifictool
N/S
N/S
N/S
Observedbe
haviou
rswith
patient
presen
tingsymptom
sfro
m‘Triadof
Impairm
ents’:socialinteraction,social
commun
ication,socialim
agination
Iden
tification:AQ-10
Shou
ldbe
carriedou
tby
MDT
consistin
gof
profession
alswho
have
N/S
N/S
Hayes et al. BMC Psychiatry (2018) 18:222 Page 17 of 25
Table
4Keydiagno
sticrecommen
datio
ns(Con
tinued)
CPG
Recommen
dedtools
MDTrecommen
ded
MDTmem
bership
Assessm
enttargets
Keyfeatures
ofassessmen
t
Wilson
etal(2013)
[52]
Diagn
osisandassessmen
t:ADI-R;
ADOS-G.A
AA,A
DI-R,A
DOS-G,A
SDI,
RAADS-R(with
outID).ADI-R
and
ADOS-G(with
ID).DISCO,A
DI-R,or
ADOS-G.
expe
riencein
diagno
sing
autism
(from
NICE).
Acompreh
ensive
assessmen
tof
autism
shou
ldinvolvean
assessmen
tof •core
autism
sign
sandsymptom
s•early
developm
entalh
istory,w
here
possible,and
intheabsenceof
aninform
antwritteninform
ation,such
asscho
olrepo
rtsmay
beused
•be
haviou
ralp
roblem
s•functio
ning
atho
me,in
education,
orin
employmen
t•pastandcurren
tph
ysicaland
men
tald
isorde
rs•othe
rne
urod
evelop
men
tal
cond
ition
s•ne
urolog
icaldisorders(e.g.epilepsy)
•sensoryprocessing
andsensory
sensitivity
issues
Assesscoexistin
gmen
talh
ealth
disorders.Risk
assessmen
t.Functio
nal
analysisforchalleng
ingbe
haviou
r
KeyOTOccup
ationa
lThe
rapist,SLT
Speech
andLang
uage
Therap
ist,HCP
Health
care
profession
al,M
DTMultid
isciplinaryteam
,Ed.PsychEd
ucationa
lPsycholog
ist
Hayes et al. BMC Psychiatry (2018) 18:222 Page 18 of 25
Interactional factorsInteractional factors related to how the dialogue betweenHCPs and between HCPs and families impacts on theassessment process. These include how consensus isreached, how disagreement is resolved and how theviews of the person and family are integrated into thedecision-making process.
Multidisciplinary assessment versus single practitionerassessmentWhere specified, all guidelines advocated for diagnosisto take place within a multidisciplinary setting with vari-ous guidelines suggesting this was ‘necessary’ [44], the‘optimum approach’ [10] or ‘ideal’ [43] (See Table 4).Some suggested (n = 4) that an appropriately trained andexperienced single professional is sufficient to diagnosein particular cases, but to be alert for indications for amore specialist assessment [11] and with access tomultidisciplinary support if required [48].Despite this almost universal recommendation, the ex-
tended version of NICE children’s guidelines (and citedby SIGN [10] and Carpenter [48]) questioned the evi-dence base for multidisciplinary assessment reporting astudy [56] that showed moderate agreement between anindividual HCP and an MDT in making a diagnosis, butstating that it was a low quality study [55]. These guide-lines also suggested in practice that a diagnosis can bemade by a single experienced HCP but that a compre-hensive profile of the patient requires a multidisciplinaryapproach [55]. SIGN guidelines also cited research [57]which demonstrates that parents value a multidisciplin-ary assessment [10].None of the guidelines in this review dealt with how
HCPs come to a consensus within a multi-disciplinarycontext, although Northern Ireland guidelines recom-mended that training should include the promotion ofcollaborative and innovative working [44] and that clini-cians must understand the profession specific roles andresponsibilities of the overall team [44, 54].Therefore, most guidelines referred to MDTs as best
practice, but lacked recommendations about how roleswithin MDTs are negotiated, how disagreement is re-solved (other than second opinion outside the team); orhow teams should work together, a factor that is ac-knowledged by NICE adults guideline [9].
Interaction with the person and their familyMany guidelines (n = 9) outlined the importance of keep-ing the person/family informed and involved throughoutthe process or recommended a person-centred approach.Some described the relationship with the person comingfor diagnosis and their family as a partnership (e.g. NICEadult guideline [9]) or as person-centred (e.g. RASDN adultguideline [54]). Some guidelines (n = 6) acknowledged that
the person or family may disagree with or be reluctant toaccept a diagnosis or, alternatively desire one [46] and bedetermined on a particular outcome, which can lead tomisleading results [11]. Carpenter asserted that somepeople may begin to see diagnosis as a desirable outcomeand pre-prepare answers based on structured interviewspublished on the internet [48]. The potential for disagree-ment or desire for diagnosis, therefore, may impact on theinteraction with the person or their family. So, although therelationship with the patient/family is considered withinCPGs, there is little guidance as to how HCPs might dealwith patient/family desire or disagreement.
Contextual factorsThere were factors related to the way in which HCPs inter-pret symptoms in different settings, how diagnostic thresh-olds are judged against criteria and included considerationsaround the impact and consequences of a diagnosis.
Interpreting needsAll national guidelines (n = 5) outlined the requirement toconsider the needs, preferences and values of the individ-ual and their family and/or support them to communicatetheir needs and concerns. Most guidelines (n = 17) de-scribed elements of diagnosis that relate to either familyenvironment, family needs and concerns, circumstances,relationships, functioning, experiences in different set-tings, contextual information or level of support needs.Many guidelines reflected the need to consider assessmentof support required. Enquiries should be made about howsymptoms impact on function within the family, at home,school or work [9, 39, 47, 54, 58]. Overall, therefore, therewas a focus not only on the assessment of symptoms, andthe way in which these affect the daily life of the personand their family, but the wider environmental and socialcontext of the person and the way in which they are sup-ported, or not, by that context.
Masking and social contextSome guidelines (n = 6) reported the difficulties of diag-nosing autism when compensation strategies may ‘mask’difficulties in some contexts, particularly as an adult[33], and in girls [50] where autism may go unrecog-nised. Some suggested that individuals may come for-ward for diagnosis when their circumstances changeand/or stressors increase (e.g. [10, 45, 54]). Some guide-lines (n = 5) noted that cultural differences will exist innorms for social interaction or that cultural variationscan deliver misleading signs and symptoms. DSM-5 sug-gested that the boundaries between normality and path-ology differ between cultures and the level at whichexperience may become problematic may differ [33].SIGN suggested that those with autism may not have
met ‘normal’ adult milestones in work, relationships or
Hayes et al. BMC Psychiatry (2018) 18:222 Page 19 of 25
independence and contained extensive information onhow females can present with a different symptom profile[10]. Others warned that behaviours might be the result ofdisruptive home experiences, carer illness [39] or complexpsychosocial or child protection backgrounds [53].Despite research showing links between diagnostic
rates and SES, there was very little mention of the im-pact of SES in CPGs. DSM-5 stated that cultural and so-cioeconomic factors may affect age at recognition ordiagnosis [33] but generally guidelines failed to considerhow this might be considered in practice, other than tobe aware that ‘cultural variations can deliver misleadingsigns and symptoms’ [45] or that autism is ‘not restrictedto particular ethnic or economic backgrounds’ [40].RCSLT guidelines considered assessment of bilingual in-dividuals [41] and some suggested that ethnicity maydelay engagement in the diagnostic process [11] or mayincrease difficulty in accessing services [54].Overall, guidelines suggested it was the responsibility
of the HCP to make a judgement about which behav-iours appear to be ‘normal’ in complex social and familycircumstances, as well as against norms for behaviour.
Diagnostic uncertainty, thresholds and the role of clinicaljudgementOverall the general focus of guidelines was to outline aframework to find the best way to decide whether autismis present or not around a threshold of symptom severity.However, many guidelines problematized this, for ex-ample, one guideline discussed how definitions of autismhave changed with DMS-5 [11] and others suggested thatsocial factors, such as an upbringing characterized by lackof boundaries [45] or symptoms amplified by distress [11]may cause diagnostic difficulties.All national guidelines considered uncertainties
around diagnosis, particularly with very young chil-dren or those with co-existing disorders [39]; whenthere may be disagreement within the diagnosing team orbetween the team and the patient or family, or when thereis a lack of local expertise [9]. Many warned of diagnosticdifficulties, or ‘obscuring’ [11, 53] that can take place ifthere is an intellectual disability or other complex coexist-ing condition and several considered the difficulties ofoverlapping diagnostic criteria [33, 50, 51, 53]. Further un-certainty was outlined when individuals may not reach thediagnostic threshold [39] or when children with autismscore below the cut-off as determined by the diagnosticinstrument [43].Despite this uncertainty, CPGs generally proposed a
systematic approach to diagnosis and, in some cases,asserted that progress has been achieved in establish-ing consensus around a behavioural definition andestablished systematic clinical assessments (e.g. [50])
even whilst recognizing that the ‘boundaries betweendisorders are more porous than originally perceived’ [33].Eight guidelines stressed the key role of clinical
judgement in the diagnostic process. DSM-5 outlinedthat the use of diagnostic criteria should be informedby clinical judgement [33] and ICD-10 suggested thatguidelines should be used flexibly in clinical work[32]. The full version of NICE children’s guidelinerecommended: ‘Use information from all sources, to-gether with clinical judgement, to diagnose autismbased on ICD-10 or DSM-IV criteria’ [55]. One guide-line suggested that clinicians may depend on the ‘feel’of the interaction with the patient for diagnosis [48].The RCPsych guideline stated that:’…much will de-pend on the extent of the clinician’s experience, theirrigour in applying standard criteria and their abilityto recognise alternative diagnoses’ [11]. Uncertainty,clinical judgement and clinician experience, therefore,were all identified as important factors in the diag-nostic process.
Pragmatic outcomes and diagnostic valueMost guidelines (n = 17) discussed the need for HCPsto have knowledge of local support and resourcesavailable to deliver appropriate advice when required.The value of the diagnosis was generally described asa way to provide appropriate support, interventionand resources. NICE guidelines for children andyoung people clarified this:
‘Diagnosis and the assessment of needs …can opendoors to support and services…all of these canimprove the lives of the child or young person andtheir family’ [39].
However, NICE guidelines for adults acknowledgedthat adults who are diagnosed may receive no supportdue to lack of services [9] and Pilling et al. stated thatwhilst care for children and young people is generallywell coordinated, this is not always the case for adultservices [58].Although some guidelines acknowledged that people
may not want a diagnosis and the label it brings with it(e.g. [44, 54]) or that it can be stigmatising or damagingto career plans [11], generally guidelines described thebenefits of a diagnosis primarily as relating to improvedquality of life, creating an opportunity to have needsmet, greater understanding and reassurance about one’sown situation and access to interventions and services.Some guidelines considered that diagnosis can providerelief, understanding or an opportunity to move on withincreased support [11, 39, 45].Many guidelines stressed the importance of early diag-
nosis as this enables early intervention which leads to
Hayes et al. BMC Psychiatry (2018) 18:222 Page 20 of 25
improved health outcomes (e.g. [41, 44, 47, 50]). How-ever, the BMJ guideline asserted that the, ‘…efficacy ofearly intervention varies from child to child’ [43], andthat ‘consideration of the direct financial costs, indirectcosts… and the impact on relationships within the fam-ily… must be balanced against likely and possible im-provements in outcome for the person with ASD’ [43],bringing uncertainty into the benefits of diagnosis. Fur-thermore, O’Hare asserted that it is difficult to provethat earlier intervention is more effective [53].Overall, guidelines reflected a concern about the
potential impact or benefits on the child or adult receiv-ing a diagnosis and considered positive factors such asaccess to support and intervention, increased under-standing or relief; as well as potential negative impactssuch as stigma. Carpenter, however, questioned the rela-tionship between need and diagnosis, by asking whetherdiagnosis is influenced by what intervention the personneeds or ‘…explicitly determined by the person’s need tohave the label to access a service… rather than theirfitting strict diagnostic criteria?’ [48].To conclude, whilst CPGs appeared to frame a meth-
odical and clinical diagnostic process, they alsorehearsed a number of subjective dilemmas that HCPshave to negotiate along the way. Some CPGs themselvesdrew attention to social issues that muddle the process:the difficulties of establishing a clear threshold in a con-dition where symptoms are impacted by the stressors ofenvironment [11]; the problem of relying on mechanisticassessments or algorithms [11, 48]; the crucial role ofclinical judgement [54]; the possibility of diagnostic un-certainty through disagreement, lack of local expertise orwhen a complex coexisting condition is present [9]; thecomplexity caused by interaction with co-occurring con-ditions; masking of autism by comorbid conditions insecondary care [58]; the impact of good (or poor) socialsupport and coping strategies on how symptoms present[33], to name a few.
DiscussionWe found that CPGs varied in how they described thediagnostic process in relation to use of diagnostic tools,key elements and structure of the diagnostic process (forexample how diagnosis related to wider needs assess-ment) and how autism was classified, defined either bycurrent versions of DSM or ICD. In addition, whilstsome recommendations were clear and universal, forexample, recommendations for multidisciplinary work-ing, there was little guidance as to how this should workin practice.In addition, we found that uncertainty was central to
many diagnostic decisions, placing a great emphasis onclinical judgement. This uncertainty included questionsaround the benefits of early intervention, the shifting
nature of the diagnostic threshold, the difficulties ofinterpreting needs in different social contexts, the prob-lems of interpreting ‘masking’ or coping strategies, thedifferences in presentation across age and breadth ofsymptoms, the inter-relationship with co-conditions andsharing of symptoms, the impact of stressors on symp-toms as well as interpretation of symptoms and needs indifferent cultural contexts.Overall, therefore, our narrative review found that al-
though individual guidelines appeared to present a co-herent and systematic assessment process, they variedenough in their recommendations to make the choicesavailable to healthcare professionals particularly complexand confusing; and presented a context of uncertaintywhich appeared to be central to the diagnosis of autism.We argue that clinical guidelines for autism diagnosisilluminate the process of diagnosis as social rather thanstraightforwardly clinical, and that judgement is requiredto consider a number of sometimes contradictory andcomplex social factors.
Social factors in CPGsOrganising the narrative review findings in relation tooperational, interactional and contextual factors enabledconsideration of the influence of social factors through-out the diagnostic process.In the wide range of inter-related assessment processes
that HCPs negotiate in order to make the diagnosticdecision, the factors considered appear to be both socialand medical. Social factors include: how the category of‘autism’ is defined and boundaried; operational andinteractional factors present in the process of diagnosis;to the consequences of diagnosis including how diagno-sis is valued (see Fig. 3). Each of these factors had aplace in clinical guidelines to a greater or lesser extentbut in many cases they were not operationalized toenable a clear and transparent framework. For example,although there were many references to individualsmasking symptoms, family ‘scaffolding’ of social impair-ment and coping strategies, there was little guidanceabout how HCPs can judge the impact of these on need,behavioural symptoms or functioning.CPGs, therefore, tended to mask (whilst paradoxically
acknowledging) the existence of social factors in thediagnostic process. A more explicit acknowledgement ofsocial factors and how to manage them mightproblematize the nature of autism diagnosis altogether:if all these factors have a place in diagnosis, how do theyrelate to clinical factors and what does it mean fordescriptions of symptoms? Whilst it is not our intentionto undermine the utility of diagnostic categories in rela-tion to access to resources or support, there appears tobe a need for balance in CPGs between a clinicalapproach which both recognises and acknowledges the
Hayes et al. BMC Psychiatry (2018) 18:222 Page 21 of 25
uncertainty of the diagnostic threshold; and a pragmaticor functional approach which responds to individual andwider needs and takes account of social factors.
Diagnostic tools and processClinical guidelines for autism varied in aspects of theirkey recommendations in operational factors. Ambigu-ities around which tools to use, the key elements in thediagnostic process and the relationship between diagno-sis, assessment and formulation suggest that local prac-tice may be shaped by other factors, such as availableresources, experience and professional roles. Whichtools are used, whether different elements of the processare considered together, sequentially or inconsistently,and the specific aims of each part of the assessmentprocess may have an impact on diagnostic outcomes. Aclearer framework would help HCPs to consider whichelements of the process are relevant and when.
MDT working and views of the familyGuidance about how HCPs can reach a consensus withothers in a multidisciplinary context or deal withpatient/family disagreement or desire was lacking, leav-ing interactional factors as key to the process but largelyunexplained. Whilst it might not appear to be in theremit of CPGs to make specific recommendations abouthow teams are organised and configured, particularlyacross different health systems, we argue that team func-tioning as a key shaping factor in diagnosis requiresmore attention in CPGs, to ensure clarity of roles andtransparency for those coming for diagnosis. Similarly,as acknowledged by some CPGs, desire of the patient/family can influence the diagnostic process, thereforeCPGs should offer guidance about how that might bemanaged.
Diagnostic uncertainty and judgementUncertainty about diagnostic thresholds and differencesin diagnostic criteria make clinical judgement key to thediagnostic process and yet how this comes about wasnot clearly defined. The extent to which diagnosisshould be based on underlying symptoms versus con-textual factors such as wider needs or circumstances ofthe individual was unclear. In addition, how HCPs con-sider the consequences of the diagnosis for the patientand their family was unclear, although there was a stronglink described between diagnosis and access to support.Ambiguities in CPGs suggest that guidelines have limi-
tations in how far they are able to promote consistencyacross practice especially given the lack of a biomarkerfor autism, the reliance on observed behaviour and fam-ily narratives for diagnosis, and the differences acrosshealth systems. However, adults, children and familiescoming for diagnosis might expect a consistent process
of assessment in keeping with a framework outlined inCPGs, as CPGs become a fixed reference point both forHCPs and the lay public. There is, therefore, a tensionbetween potential expectations of those coming for diag-nosis that there should be a uniform process; and theflexibility HCPs require to respond to individual need.Given the social nature of diagnosis as argued in this
article, biomarker use in clinical practice, if and when itis successfully developed, is likely to remain only one as-pect of an interactive diagnostic process, and thereforemay not necessarily alleviate some of the difficulties andcomplexities of diagnosis that we describe. However, asbiomarker research develops, it is likely that it will pro-duce important evidence to be considered in the devel-opment of future CPGs.
Building on previous workWhilst our narrative review differed in purpose to thesystematic review undertaken by Penner et al. [29], therewere some similar findings across the two studies. Wefound, as did the authors of this previous review, thatguidelines were inconsistent in their recommendationsaround diagnostic assessment. For example, whilstguidelines generally recommended MDT assessment,some suggested that a single experienced clinician coulddiagnose [11, 39, 48] and there was little cited evidencefor the efficacy of MDT assessment. In addition, CPGsdid not provide guidance as to how waiting times (wherespecified) would be achieved and we would add that theyprovided little operational guidance as to how MDTdecision-making should operate to be most effective. Wefound, as did Penner et al., that guidelines varied sub-stantially in recommended tools and personnel; and thatnone of the professional guidelines provided targetwaiting times for assessment (See Table 4). Whilst wedid not assess guidelines for quality, we agree that thereare multiple guidelines that HCPs might access, and thatthey vary in their level of detail and theirrecommendations.We built on Penner et al.’s findings in a number of
ways. Our review of the range of assessment processesthat HCPs involved in autism diagnosis may undertake(See Table 4) suggested a wide range of choices in as-sessment processes. We also found that using differentclassification criteria (ICD-10 and DSM-5) further in-creases complexity in CPGs. Finally, we found that con-sideration of factors such as interaction with the patientand family, how needs might be defined and assessed,and issues of masking, social context, uncertainty andclinical judgement highlighted the way in which socialprocesses and factors might impact on diagnosticdecision-making. We also found that, despite the CPGsin our study operating within comparable health systemsacross the UK, CPGs did not make consistent
Hayes et al. BMC Psychiatry (2018) 18:222 Page 22 of 25
recommendations around how diagnosis might releasepost-diagnostic resources, and what that means for theprocess of diagnosis itself.Overall we agree with Penner et al.’s findings that
CPGs should incorporate flexibility to ensure that indi-vidual needs are met. Additionally, we suggest thatguidelines should acknowledge more explicitly the socialframing of diagnosis and support clinicians with aframework which enables them to act pragmaticallyin the best interests of the patient. We would arguethat inconsistencies and lack of operational guidancearound social factors in CPGs suggests that local fac-tors such as access to resources and HCP expertiseare likely to shape diagnosis more than is explicitlyoutlined in CPGs.Unlike Penner et al., we do not think that a formal ap-
proach to decision-making such as the Delphi methodwould help HCPs in the assessment process; rather itmight simply add another layer of complexity to aprocess which is already challenging. Our experience isthat HCPs already struggle to find time to meet togetherin the context of an ever-increasing workload; an extraadministrative burden may make this even moredifficult.Finally, unlike Penner et al., we included in our review
CPGs for adult diagnosis and children over 6 years old,which enabled us to consider factors common acrossage groups. Whilst we did not specifically look for differ-ences between children’s and adult’s CPGs we are awarethat the different pathways for children’s and adult’sassessment [3, 59], may well impact on an individual’sability to access diagnostic services, the process of assess-ment itself as well as potential support post-diagnosis. Wewould consider these differences as social organisationalfactors that may impact the assessment process and meritfurther consideration in the development of future CPGs.Guidelines, therefore, appear to offer a relatively linear
and straightforward pathway towards a diagnostic deci-sion in their presentation, with DSM-5 asserting thatcriteria facilitate an objective assessment of symptompresentations in a variety of settings [20]. However,comparing individual guidelines suggests inconsistenciesin this framework and close analysis reveals a more fluidprocess, disrupting the apparent clinical purity ofdiagnosis [37].
ConclusionOverall, there was a bewildering range of options forHCPs in the assessment process, and a number of differ-ent emphases in guidelines which might lead a clinicalteam one way or another. Navigating this framework inpractice is, therefore, likely to be less systematic than theguidelines might suggest, allowing for, as it must, socialand contextual influences. In reality, the clinical pathway
for autism diagnosis differs across health systems andtrusts across the UK [3] leading to the potential for agreat deal of variation in diagnostic decision-making.
Strengths and limitationsAlthough there has been a recent systematic review ofclinical guidelines [29], we consider our narrativeapproach to be helpful to understand the complex andsometimes contradictory nature of the diagnosticprocess. Methodologically, we undertook a systematicsearch and included a transparent but pragmatic selec-tion of documents. This is, to our knowledge, the firstreview which strives to consider where social factors areconsidered in clinical guidelines for autism diagnosis.One limit was that as it was a review of current guide-lines, changes through time were not exposed. Ourreview was limited to the UK context because healthcare settings vary widely in international contexts. Inaddition, we only examined the content of guidelinesrather than how they are used. Whilst CPGs areintended to assist clinical decision-making by improvingeffectiveness and decreasing variations in clinical prac-tice [60], one review of guidelines for psychiatric diagno-ses suggested that CPGs are not implemented enough inclinical practice due to either lack of agreement or ambi-guity between guidelines [61]. It is likely that there iswide variation in how CPGs are used in practice in aut-ism diagnosis and we plan further studies to considerthis.
Implications and recommendations for future researchSocial factors were not only explicit in guidelines, butwere central to them. However, an observer might beforgiven for assuming these are subsidiary factors indiagnosis, with the more ‘medical’ ‘symptom checklist’ atits core. HCPs are expected, as outlined in DSM-5, to in-tegrate the social, psychological and biological in caseformulation, however, greater clarity about how thisshould operate would be helpful. Our findings suggestthat more detail about how clinical judgement shouldconsider social factors in diagnosis would provide amore transparent guideline for HCPs.We would not recommend greater rigidity within
CPGs when evidence for best diagnostic practice is in-consistent (e.g. use of diagnostic tools), and which mayrestrict HCPs in making decisions that are in the bestinterest of the person coming for diagnosis. Rather werecommend a more explicit acknowledgement of socialfactors in CPGs with advice about how they should bemanaged and operationalised to enable more consistencyof practice and transparency for those coming fordiagnosis.Specifically, greater clarification is required related to
the sequence and timing of the diagnostic, assessment
Hayes et al. BMC Psychiatry (2018) 18:222 Page 23 of 25
and formulation processes. The recognition and assess-ment of needs is both part of the assessment processand inextricably linked to the consequences of diagnosis;guidelines might attempt to consider how these mightbe reconciled. A greater acknowledgement of the activerole of the patient, client or patient’s family in the diag-nostic process would help to place potentially competingnarratives into context. It would be useful to considerwhether guidelines are culturally specific to health ser-vices and setting and we would recommend that furthernarrative reviews should be conducted to examine CPGsin other countries. In addition, greater clarity is requiredaround how multidisciplinary interaction might operateto support consensus decision-making. Further researchcreating an evidence base on best practice for multidis-ciplinary decision-making and the use of different diag-nostic tools in practice is required, taking into accountthe complexity of social factors in diagnosis.
Additional file
Additional file 1: Data Extraction Framework. (PDF 298 kb)
Abbreviations3di: The Developmental, Dimensional and Diagnostic Interview; ADI-R: Autism Diagnostic Interview Revised; ADOS: Autism DiagnosticObservation Schedule; BMJ: British Medical Journal; BPS: The BritishPsychological Society; CPG: Clinical Practice Guideline; DISCO: The DiagnosticInterview for Social and Communication Disorders; DSM-5: Diagnostic andStatistical Manual of Mental Disorders (Fifth Edition); HCP: HealthcareProfessional; HMIC: The Healthcare Management Information Consortium;ICD-10: International Classification of Mental and Behavioural Disorders(Tenth edition) ICIDH-2International Classification of Functioning, Disabilityand Health; MDT: Multidisciplinary Team; NICE: The National Institute forHealth and Care Excellence; RASDN: The Regional Autistic Spectrum DisorderNetwork; RCPsych: Royal College of Psychiatrists; RCSLT: Royal College ofSpeech and Language Therapists; SIGN: The Scottish IntercollegiateGuidelines Network; SLT: Speech and Language Therapist
AcknowledgementsThe authors thank Daisy Elliott and Rhianna White for their help with pilotingthis project.
FundingThe study is part of the Exploring Diagnosis project made possible by aWellcome Trust Investigator Award http://blogs.exeter.ac.uk/exploringdiagnosis/
Availability of data and materialsThe datasets used and/or analysed during the current study are availablefrom the corresponding author on reasonable request.
Authors’ contributionsJH undertook the systematic search, analyzed and interpreted the data. TFand GR were major contributors in conception and design, reviewed thedata selection and revised the manuscript for important intellectual content.HR supported with data collection and initial analysis. All authors read andapproved the final manuscript.
Ethics approval and consent to participateNot applicable.
Consent for publicationNot applicable.
Competing interestsThe authors declare that they have no competing interests.
Publisher’s NoteSpringer Nature remains neutral with regard to jurisdictional claims inpublished maps and institutional affiliations.
Received: 7 March 2018 Accepted: 26 June 2018
References1. Kobeissy F, Alawieh A, Mondello S, Boustany RM, Gold MS. Biomarkers in
psychiatry: how close are we? Frontiers in Psychiatry. 2013;32. Klin A, Lang J, Cichetti D, Volkmar F. Brief Report: Interrater reliability of
clinical diagnosis and DSM-IV criteria for autistic disorder: results of theDSM-IV Autism field trial. J Autism Dev Disord. 2000;30:163–7.
3. Vllasaliu L, Jensen K, Hoss S, Landenberger M, Menze M, Schütz M, et al.Diagnostic instruments for autism spectrum disorder (ASD) (protocol). 2011.
4. Huerta M, Lord C. Diagnostic evaluation of autism spectrum disorders.Pediatr Clin N Am. 2012;59:103–11.
5. Gillberg C. The ESSENCE in child psychiatry: Early Symptomatic SyndromesEliciting Neurodevelopmental Clinical Examinations. Res Dev Disabil. 31:1543–51. https://doi.org/10.1016/j.ridd.2010.06.002.
6. Falkmer T, Anderson K, Falkmer M, Horlin C. Diagnostic procedures inautism spectrum disorders: a systematic literature review. Eur Child AdolescPsychiatry. 2013;22:329–40. https://doi.org/10.1007/s00787-013-0375-0.
7. Woolfenden S, Sarkozy V, Ridley G, Williams K. A systematic review of thediagnostic stability of Autism Spectrum disorder. Res Autism Spectr Disord.2011;6:345–54.
8. Field M, Lohr K. Guidelines for clinical practice: from development to use.Washington DC: Institute of Medicine. Washington, D.C: National AcademyPress; 1992. https://www.ncbi.nlm.nih.gov/books/NBK234504/#ddd00035
9. NICE. Autism Spectrum disorder in adults: diagnosis and management.2012. https://www.nice.org.uk/guidance/cg142/resources/autism-spectrum-disorder-in-adults-diagnosis-and-management-pdf-35109567475909.
10. Scottish Intercollegiate Guidelines Network. SIGN 145: assessment, diagnosisand interventions for autism spectrum disorders: a national clinicalguideline. 2016. http://www.sign.ac.uk/assets/sign145.pdf. Accessed 27 Mar2017.
11. Royal College of Psychiatrists. Good practice in the management of autism(including Asperger syndrome) in adults: College Report CR191. 2014.http://www.rcpsych.ac.uk/files/pdfversion/CR191.pdf. Accessed 7 Jun 2017.
12. Fuat A, Hungin APS, Murphy JJ. Barriers to accurate diagnosis and effectivemanagement of heart failure in primary care: qualitative study. Br Med J.2003;326:196–201. https://doi.org/10.1136/bmj.326.7382.196.
13. Mazumdar S, Winter A, Liu KY, Bearman P. Spatial clusters of autism birthsand diagnoses point to contextual drivers ofincreased prevalence. Soc SciMed. 2013;95:87–96.
14. Liu K-Y, King M, Bearman PS. Social influence and the autism epidemic. AmJ Sociol. 2010;115:1387–434.
15. Skellern C, Schluter P, McDowell M. From complexity to category:responding to diagnostic uncertainties of autistic spectrum disorders. JPaediatr Child Health. 2005;41:407–12. https://doi.org/10.1111/j.1440-1754.2005.00634.x.
16. Rogers CL, Goddard L, Hill EL, Henry LA, Crane L. Experiences of diagnosingautism spectrum disorder: a survey of professionals in the United Kingdom.Autism. 2016;20:820–31. https://doi.org/10.1177/1362361315611109.
17. Russell G, Rodgers LR, Ukoumunne OC, Ford T. Prevalence of parent-reported ASD and ADHD in the UK: findings from the millennium cohortstudy. J Autism Dev Disord. 2014;44:31–40. https://doi.org/10.1007/s10803-013-1849-0.
18. King M, Bearman P. Socioeconomic status and the increased prevalence ofAutism in California. Am Sociol Rev. 2011;76:320–46. https://doi.org/10.1177/0003122411399389.
19. The National Autistic Society. Diverse perspectives: the challenges forfamilies affected by autism from black. London: Asian and Minority EthnicCommunities; 2014.
20. Norbury CF, Sparks A. Difference or disorder? Cultural issues inunderstanding neurodevelopmental disorders. Dev Psychol. 2013;49:45–58.
Hayes et al. BMC Psychiatry (2018) 18:222 Page 24 of 25
21. Russell G, Steer C, Golding J. Social and demographic factors that influencethe diagnosis of autistic spectrum disorders. Soc Psychol PsychiatrEpidemiol. 2011;46:1283–93.
22. Goldani AAS, Downs SR, Widjaja F, Lawton B, Hendren RL. Biomarkersin autism. Front psychiatry. 2014;5:100. https://doi.org/10.3389/fpsyt.2014.00100.
23. Anwar A, Abruzzo PM, Pasha S, Rajpoot K, Bolotta A, Ghezzo A, et al.Advanced glycation endproducts, dityrosine and arginine transporterdysfunction in autism - a source of biomarkers for clinical diagnosis. MolAutism. 2018;9 https://doi.org/10.1186/s13229-017-0183-3.
24. Carlisi CO, Norman L, Murphy CM, Christakou A, Chantiluke K, Giampietro V,et al. Disorder-specific and shared brain abnormalities during vigilance inAutism and obsessive-compulsive disorder. Biol Psychiatry Cogn NeurosciNeuroimaging. 2017;2:644–54. https://doi.org/10.1016/j.bpsc.2016.12.005.
25. Anderson GM. Autism biomarkers: challenges, pitfalls and possibilities.J Autism Dev Disord. 2015;45:1103–13. https://doi.org/10.1007/s10803-014-2225-4.
26. NHS Choices. New blood test for Autism a long way off. 2018. https://www.nhs.uk/news/pregnancy-and-child/new-blood-test-autism-long-way/.Accessed 3 May 2018.
27. Imran N, Chaudry MR, Azeem MW, Bhatti MR, Choudhary ZI, Cheema MA. Asurvey of Autism knowledge and attitudes among the healthcareprofessionals in Lahore, Pakistan. BMC Pediatr. 2011;11:107. https://doi.org/10.1186/1471-2431-11-107.
28. Taylor LJ, Eapen V, Maybery MT, Midford S, Paynter J, Quarmby L, et al.Diagnostic evaluation for autism spectrum disorder: a survey of healthprofessionals in Australia. BMJ Open. 2016;6:e012517. https://doi.org/10.1136/bmjopen-2016-012517.
29. Penner M, Anagnostou E, Andoni LY, Ungar WJ. Systematic review of clinicalguidance documents for autism spectrum disorder diagnostic assessmentin select regions. Autism. 2017:136236131668587. https://doi.org/10.1177/1362361316685879.
30. Moher D, Liberati A, Tetzlaff J, Altman DG, Group TP. Preferred reportingitems for systematic reviews and meta-analyses: the PRISMA statement(reprinted from annals of internal medicine). Phys Ther. 2009;89:873–80.https://doi.org/10.1371/journal.pmed.1000097.
31. Liberati A, Altman DG, Tetzlaff J, Mulrow C, Gøtzsche PC, Ioannidis JPA, et al.The PRISMA statement for reporting systematic reviews and meta-analyses ofstudies that evaluate health care interventions: explanation and elaboration.PLoS Med. 2009;6 https://doi.org/10.1371/journal.pmed.1000100.
32. World Health Organization. The ICD-10 Classification of Mental andBehavioural Disorders: diagnostic criteria for research. 1993.
33. APA. Diagnostic and statistical manual of mental disorders. Fifth ed.Washington DC: American Psychiatric Association; 2013.
34. Popay J, Roberts H, Sowden A, Petticrew M, Arai L, Rodgers M, et al.Guidance on the Conduct of Narrative Synthesis in Systematic Reviews: AProduct from the ESRC Methods Programme. 2006. https://www.researchgate.net/profile/Lisa_Arai/publication/242311393_Guidance_on_the_conduct_of_narrative_synthesis_in_systematic_reviews_a_comparison_of_guidance-led_narrative_synthesis_versus_meta-analysis/links/5532159f0cf2f2a588ad67fd.pdf. Accessed 20 Jun 2017.
35. Ferrari R. Writing narrative style literature reviews. Med Writ. 2015;24:230–5.https://doi.org/10.1179/2047480615Z.000000000329.
36. Jutel A, Nettleton S. Towards a sociology of diagnosis: reflections andopportunities. Soc Sci Med. 2011;73:793–800.
37. Latimer J. The gene, the clinic and the family: diagnosing dysmorphology,reviving medical dominance. Oxfordshire: Routledge; 2013.
38. Department of Health. “Fulfilling and rewarding lives”: The strategy foradults with autism in England. 2010. http://webarchive.nationalarchives.gov.uk/20130107105354/http://www.dh.gov.uk/prod_consum_dh/groups/dh_digitalassets/@dh/@en/@ps/documents/digitalasset/dh_113405.pdf.Accessed 19 Jun 2017.
39. NICE. Autism spectrum disorder in under 19s: recognition, referral anddiagnosis. 2011. https://www.nice.org.uk/guidance/cg128/resources/autism-spectrum-disorder-in-under-19s-recognition-referral-and-diagnosis-pdf-35109456621253. Accessed 2 Nov 2016.
40. British Psychological Society. Autistic Spectrum Disorders: Guidance forPsychologists. Br Psychol Soc. 2016; www.bps.org.uk. Accessed 27 Mar 2017Available at https://blogs.exeter.ac.uk/exploringdiagnosis/.
41. RCSLT. Royal College of Speech & Language Therapists Clinical Guidelines.Oxon: Speechmark; 2005. p. 63–71.
42. World Health Organisation. International classification of functioning,Disability and health. 2001.
43. Parr J, Woodbury-Smith M. Autism spectrum disorder. BMJ Best Pract. 2017:59–83. https://bestpractice.bmj.com/topics/en-gb/379.
44. RASDN. Six Steps of Autism Care. 2011. http://www.belfasttrust.hscni.net/pdf/Six_Steps_of_Autism_Care_Pathway_Report.pdf. Accessed 25 Mar 2018.
45. Howlett D, Richman S. Recognising, referring and diagnosing autism. EveryChild J. 2011;2:44–9.
46. Reynolds KE. Autism spectrum disorders in childhood: a clinical update.Community Pr. 2011;84:36–8.
47. Blenner S, Reddy A, Augustyn M. Diagnosis and management of autism inchildhood. BMJ. 2011; https://doi.org/10.1136/bmj.d6238.
48. Carpenter P. Diagnosis and assessment in autism spectrum disorders. AdvMent Heal Intellect Disabil. 2012;6:121–9. https://doi.org/10.1108/20441281211227184.
49. Garland J, O’Rourke L, Robertson D. Autism spectrum disorder in adults:clinical features and the role of the psychiatrist. Adv Psychiatr Treat. 2013;19:378–91. https://doi.org/10.1192/apt.bp.112.010439.
50. Lai M-C, Lombardo MV, Baron-Cohen S. Autism. Lancet. 2014;383:896–910.https://doi.org/10.1016/S0140-6736(13)61539-1.
51. Levy SE, Mandell DS, Schultz RT. Autism. Lancet. 2009;374:1627–38. https://doi.org/10.1016/S0140-6736(09)61376-3.
52. Wilson CE, Roberts G, Gillan N, Ohlsen C, Robertson D, Zinkstok J. The NICEguideline on recognition, referral, diagnosis and management of adults onthe autism spectrum. Adv Ment Heal Intellect Disabil. 2014;8:3–14. https://doi.org/10.1108/AMHID-05-2013-0035.
53. O’Hare A. Autism spectrum disorder: diagnosis and management. Arch DisChild - Educ Pract. 2009;94:161–8. https://doi.org/10.1136/adc.2008.150490.
54. Regional Autistic Spectrum Disorder Network. Autism Adult Care Pathway.2013. http://www.hscbusiness.hscni.net/pdf/Adult_Care_PAthway_Reviewed_August_2013.pdf. Accessed 21 Jun 2017.
55. National Collaborating Centre for Women’s and Children’s Health. Autism:recognition, referral and diagnosis of children and young people on theautism spectrum: NICE Clinical Guideline. 2011. https://www.ncbi.nlm.nih.gov/pubmed/22624178. Accessed 17 Feb 2017.
56. Mahoney WJ, Szatmari P, MacLean JE, Bryson SE, Bartolucci G, Walter SD,Jones MB, Zwaigenbaum L. Reliability and accuracy of differentiatingpervasive developmental disorder subtypes. J Am Acad Child AdolescPsychiatry. 1998;37(3):278–85.
57. Moore V, Titcomb J, Johnson C, Cronk E, Baker S, Thysson L, et al.Developing an autism assessment service II: analysis of the first 81 casesseen. Child Psychol Psychiatr Rev. 1998;3(3):121–7.
58. Pilling S, Baron-Cohen S, Megnin-Viggars O, Lee R, Taylor C.Recognition, referral, diagnosis, and management of adults with autism:summary of NICE guidance. BMJ. 2012;344(jun27 1):e4082. https://doi.org/10.1136/bmj.e4082.
59. Baird G, Douglas HR, Murphy MS. Recognising and diagnosing autismin children and young people: summary of NICE guidance. BMJ. 2011;343:–d6360.
60. Kredo T, Bernhardsson S, Machingaidze S, Young T, Louw Q, Ochodo E, etal. Guide to clinical practice guidelines: the current state of play. Int J QualHeal Care. 2016;28:122–8. https://doi.org/10.1093/intqhc/mzv115.
61. Saddichha S, Chaturvedi SK. Clinical practice guidelines in psychiatry:more confusion than clarity? A critical review and recommendation ofa unified guideline. ISRN Psychiatry. 2014;2014:828917. https://doi.org/10.1155/2014/828917.
62. National Collaborating Centre for Mental Health. Autism: the NICE guidelineon recognition, referral, diagnosis and management of adults on the autismspectrum. In: The British Psychological Society and the Royal College ofPsychiatrists; 2012. https://www.nice.org.uk/guidance/cg142/evidence/full-guideline-186587677.
Hayes et al. BMC Psychiatry (2018) 18:222 Page 25 of 25