Clinical practice guidelines for diagnosis of autism spectrum disorder in adults and children in the UK: a narrative review
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Hayes et al. BMC Psychiatry (2018) 18:222 https://doi.org/10.1186/s12888-018-1800-1 REVIEW Open Access Clinical practice guidelines for diagnosis of autism spectrum disorder in adults and children in the UK: a narrative review Jennie Hayes* , Tamsin Ford, Hateem Rafeeque and Ginny Russell Abstract Background: Research suggests that diagnostic procedures for Autism Spectrum Disorder are not consistent across practice and that diagnostic rates can be affected by contextual and social drivers. The purpose of this review was to consider how the content of clinical practice guidelines shapes diagnoses of Autism Spectrum Disorder in the UK; and investigate where, within those guidelines, social factors and influences are considered. Methods: We electronically searched multiple databases (NICE Evidence Base; TRIP; Social Policy and Practice; US National Guidelines Clearinghouse; HMIC; The Cochrane Library; Embase; Global health; Ovid; PsychARTICLES; PsychINFO) and relevant web sources (government, professional and regional NHS websites) for clinical practice guidelines. We extracted details of key diagnostic elements such as assessment process and diagnostic tools. A qualitative narrative analysis was conducted to identify social factors and influences. Results: Twenty-one documents were found and analysed. Guidelines varied in recommendations for use of diagnostic tools and assessment procedures. Although multidisciplinary assessment was identified as the ‘ideal’ assessment, some guidelines suggested in practice one experienced healthcare professional was sufficient. Social factors in operational, interactional and contextual areas added complexity to guidelines but there were few concrete recommendations as to how these factors should be operationalized for best diagnostic outcomes. Conclusion: Although individual guidelines appeared to present a coherent and systematic assessment process, they varied enough in their recommendations to make the choices available to healthcare professionals particularly complex and confusing. We recommend a more explicit acknowledgement of social factors in clinical practice guidelines with advice about how they should be managed and operationalised to enable more consistency of practice and transparency for those coming for diagnosis. Keywords: Autism spectrum disorder, Diagnosis, Clinical guideline, Narrative review, Social factors, Diagnostic uncertainty, Clinical judgement Background diagnosis may also have symptoms of other conditions The diagnosis of autism poses particular challenges for such as epilepsy, learning disability or sleep disorders, for healthcare professionals (HCPs) as, in common with other example, complicating diagnosis further, with some argu- neurodevelopmental disorders and most psychiatric disor- ing for a de-compartmentalisation of these conditions in ders, there are no biomarkers utilised in clinical practice younger children . The ‘gold standard’ of diagnosis is [1–3]. In addition, the condition is heterogeneous, with considered to be consensus agreement within a wide ranging levels of severity and symptom expression multi-agency team [6, 7]. However, negotiating consensus and characteristics common to autism may occur in between HCPs with different training, professional roles, people with other conditions . Those coming for experience and knowledge can be challenging and time consuming. Finally, a review of the accuracy, reliability, * Correspondence: Jennie.Hayes@exeter.ac.uk validity and utility of reported diagnostic tools and assess- University of Exeter Medical School, St Luke’s Campus, University of Exeter, ments found that many diagnostic instruments for autism Exeter EX1 2LU, UK © The Author(s). 2018 Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the 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 Page 2 of 25 lack a high-quality independent evidence base . For ex- prevalence , contrasting with the US where higher ample, only three instruments - the Autism Diagnostic SES and parental education is linked to increased likeli- Observation Schedule (ADOS), Autism Diagnostic Inter- hood of diagnosis [14, 18]. Research also suggests that view Revised (ADI-R) and the Childhood Autism Rating people with autism from Black, Asian and Minority Scale (CARS) - had a strong supporting evidence base . Ethnic (BAME) communities are less likely to be Given the potential challenges, clinical practice guide- diagnosed with autism or access appropriate services lines (CPGs) perform an important role in informing HCPs  despite research which shows that behaviours of best practice. CPGs are ‘systematically developed state- associated with autism are likely to be consistent across ments to assist practitioner and patient decisions about ap- cultures and countries . propriate health care for specific clinical circumstances’ . Prior to diagnosis, social factors can also determine National CPGs in the UK help to provide evidence-based who comes forward for diagnosis and who is referred for recommendations to support Autism Strategies and Action further assessment. Research examining a longitudinal Plans  and form the guidance framework for HCPs UK cohort study identified that with the severity of aut- undertaking assessment and diagnosis of autism in the UK. istic traits held constant, younger mothers and mothers In addition to CPGs produced by specialist, government of first-born children were significantly less likely to have supported healthcare associations, for example, the children diagnosed with ASD . In addition, boys Scottish Intercollegiate Guidelines Network (SIGN) , were more likely to receive a diagnosis than girls, and professional clinical bodies also publish discipline-specific maternal depression was linked with a lack of diagnosis practice parameters or position papers, for example, the . These findings suggest both cultural and economic Royal College of Psychiatrists (RCPsych) . influences impact the diagnostic pathway. Social factors Biomarkers in autism diagnosis Although CPGs aim to inform diagnostic practice, re- There is a great deal of research that explores the under- search suggests that diagnostic and assessment procedures lying neurobiological, genetic, chemical and cognitive vary in practice . Diagnosis is dependent on observing factors that may, in future, provide biomarkers which socially-based behaviours that are arguably not necessarily could be utilised in autism diagnosis (see  for a review characteristic of the person under assessment but arise of genetic, metabolic and brain focused biomarkers). For from two-way social relationships and social context. example, a recent research study has identified a link be- Assessment mechanisms include drawing information tween damage to proteins in blood plasma and autism from a range of sources, including clinician observation, symptoms ; while another found shared brain activity reporting from family members and wider contexts such between boys diagnosed with ASD and those with as school or workplace. This means that assessments are obsessive-compulsive disorder (OCD) which in turn dif- contextual and inter-relational and symptoms may change fered from a non-diagnosed control group . However, according to context or interpersonal relationship, making it has been argued that the heterogeneous and interactive different assessment sources potentially contradictory. nature of autism symptoms makes the identification of Some studies show that social factors such as individ- clinically useful biomarker tests problematic . Further- ual patient preference, availability of resources or local more, findings from biomarker research have yet to be organisational factors can shape diagnostic practice, in, integrated with clinical practice and none currently have for example, heart disease . Studies in autism have enough evidence to support routine clinical use . For also shown how diagnostic rates can be affected by the foreseeable future, therefore, these developments are contextual and social drivers, such as diagnostic re- unlikely to change diagnostic practice . sources  or diffusion of information about autism through social networks . Where there is diagnostic Purpose of the review uncertainty clinicians may ‘upgrade’ to a diagnosis of Although a few studies have begun to explore health autism if they believe it would be in the best interests of professionals’ views of autism diagnosis [16, 27, 28], to the patient; if the diagnosis would trigger appropriate our knowledge there are few studies that examine how services and funding; or counteract the limitations of clinical guidelines may inform assessment. One excep- diagnostic tools, particularly in atypical presentations tion is a recent systematic review of English speaking [15, 16]. It seems, in practice, clinicians may adopt a guidelines undertaken by Penner et al.  which pragmatic, practical or functional approach. reported that guidelines varied considerably in quality, content and recommendations but included guidelines Socio-economic and cultural factors working across incomparable health systems in different Research has shown that lower social economic status countries. We therefore carried out a focussed narrative (SES) is associated with increased parent-reported review of guidelines that impact on UK-based practice.
Hayes et al. BMC Psychiatry (2018) 18:222 Page 3 of 25 Penner et al. suggest that in the face of disparate clinical process of diagnosis to a greater or lesser extent and for guidance clinicians should ‘be mindful of local resources the purposes of this study all were included under the and wait times, eligibility requirements for ASD ser- term clinical practice guidelines. vices…and the wishes of families when deciding on how best to assess for ASD’ . Our narrative review re- Identification of CPGs sponds to this call for a pragmatic approach by investi- We did not set out to undertake a comprehensive sys- gating where, within guidelines, social factors and tematic review, as it was not a requirement of our study influences such as those suggested are considered. that we consider risk of bias either within or across studies . However, we took a PRISMA approach to Method our search strategy, borrowing from systematic review Scoping search methodology in terms of screening titles and abstracts A scoping search was undertaken to check there was no and data extraction techniques . A systematic search similar review published. A search was made in the fol- was conducted in June 2017 using the following data- lowing databases; PsychARTICLES; Embase; Global bases: NICE Evidence Base; TRIP; Social Policy and health; HMIC; Ovid (books; medline; journals); Psy- Practice; US National Guidelines Clearinghouse; HMIC; chINFO; Social policy and practice. One relevant article The Cochrane Library. In addition, searches were made was retrieved , as discussed above. of government related websites and relevant professional bodies as well as NICE and SIGN. We used the follow- Inclusion and exclusion criteria ing search terms to search all databases and websites: Full inclusion and exclusion criteria are in Table 1. ‘autism’, ‘diagnosis’, ‘guidance’, ‘statutory’, ‘clinical’, ‘practice’, Whilst we took a broad approach to CPGs, including, ‘guideline’, ‘protocol’, ‘strategy’, ‘policy’, ‘bill’, ‘act’, and ‘par- for example, journal articles summarizing national CPGs ameter’. A full search strategy is in Fig. 1. and the diagnostic process, as well as national CPGs, the researchers acknowledge that each of these type of Study selection guidelines have different purposes (see Table 2). How- The first reviewer (JH) removed duplicates and screened ever, we argue that each may have an impact on HCP’s titles for relevance. Full text copies of the potentially rele- vant documents were downloaded for screening. The first Table 1 Inclusion and Exclusion Criteria reviewer screened full text documents and excluded those Inclusion Criteria not relevant. The remaining titles were independently Documents with guidance-based status for HCPs working in secondary checked by the clinical specialist (TF) using pre-specified care in the UK; or were published papers, aimed at HCPs, with the aim inclusion/exclusion criteria (outlined in Table 1). Discrep- of reviewing CPGs ancies were resolved by discussion, with involvement of a Documents related to autism diagnosis and assessment for either third reviewer (GR). Twenty-eight documents were children, adults or both considered for analysis, with seven being withdrawn at full Documents produced either by or through government or analysis stage. See Fig. 2 for full details. professional clinical bodies or published in a journal aimed at HCPs Guidelines from the International Classification of Documents related to diagnosis and assessment in UK (England, Scotland, Wales and N Ireland) Mental and Behavioural Disorders (Tenth edition) (ICD-10)  and the Diagnostic and Statistical Manual Documents dated from 2009 (reflecting publication of the first UK specific Autism Act) or were the most recent CPG published by a key of Mental Disorders (Fifth edition) (DSM-5)  were professional body considered alongside UK relevant guidelines as they are considered authoritative sources for the definition of Exclusion Criteria symptoms utilized in autism diagnosis, as well as other Documents related solely to referral, treatment, prognosis or support neurological conditions. services Reviews of diagnostic criteria and other academic papers Data extraction Guidelines related to primary care as we were interested in diagnosis A data extraction framework was created to draw key rather than referral characteristics from the guidelines (year, author, geo- Narrative reviews, editorials and opinions graphical remit, target audience, age range, range of Documents related to parliament or legislature; national or regional diagnoses covered, age at which symptoms are recog- strategies as they are not the primary source for clinicians nised, diagnostic criteria referred to); as well as key ele- Local guidance ments in the diagnostic process (recommended tools, Guidance provided by private providers of diagnostic services role and composition of the multidisciplinary team (MDT), who can diagnose, assessment targets and key International professional body guidelines (other than ICD/DSM) features of assessment). This framework was piloted with
Hayes et al. BMC Psychiatry (2018) 18:222 Page 4 of 25 Table 2 Purpose of Diagnostic Guidelines Type of guideline General purpose of type of guideline Diagnostic Criteria To assist clinicians in the diagnosis of mental conditions by providing descriptions of the main clinical features in each category National Clinical Guidelines To offer best practice advice and guidance for professionals and service users and their families Guidelines from Professional To offer profession specific advice to clinicians and healthcare professionals in their specialist area Bodies Journal Articles To summarise clinical guidelines in clinician-facing publications to keep clinicians up to date and/or alert them to changes in good practice four reviewers (JH, GR, RW and DE) in a comparison of economic forces – contribute to shaping aspects of the analysis of three guidelines. The framework was diagnostic process including those related to classification, amended accordingly and is included in Additional file 1. the consequences of diagnosis and the process of diagnosis Data were independently extracted by two reviewers (JH itself . Overall, a social model challenges the idea of and HR) from 21 CPGs and disagreements were resolved diagnosis as ‘a moment of clinical purity’  or as a way by discussion and further checks. Data were tabulated simply to identify underlying biological problems. We in- and analysed. cluded factors that were relevant to multidisciplinary work- ing or parental/family influence (the process of diagnosis); Analysis of social factors the potential outcomes of diagnosis for the patient and how A modified form of narrative review, as described by HCPs may take this into account (the consequences of Popay et al.  and Ferrari , was adopted whereby diagnosis); and how issues around classification shape the data extraction enabled synthesis of key data, whilst also diagnostic process such as how borderline cases are dealt allowing rich narrative description . Narrative review with (diagnosis as a category). This was a dynamic process was selected as it enabled the telling of the ‘story’ of whereby data extracts were considered in relation to each CPGs, and consideration of how guidelines, as a set of other via conceptual mapping and clustering . texts, shape diagnosis . A process of inductive analysis was undertaken based Terminology on social factors and influences. These were defined, for For the purposes of this review and in line with the Aut- the purpose of this review, as contextual factors that in- ism Strategy  we use the term ‘autism’ throughout. fluence diagnosis but are not based on symptoms of aut- ism. We drew from the concept of a social model of Results diagnosis as developed by Jutel and Nettleton . This Characteristics of guidelines model considers how diagnostic classifications and med- A total of 236 documents were retrieved, and 21 were ical diagnoses are socially created and how social forces included in the final narrative review (see Table 3 for full – including technological, professional, cultural and list of included documents and guideline characteristics). Fig. 1 Full Search Strategy
Hayes et al. BMC Psychiatry (2018) 18:222 Page 5 of 25 Fig. 2 Study selection flow diagram The documents studied are grouped into four types: a) Of those, two guidelines were international but key to International Diagnostic Criteria (n = 2); b) National diagnostic practice in the UK (ICD-10 and DSM-5), Clinical Guidelines (n = 5); c) Journal articles that five related to the UK as a whole, five to England and summarize National Clinical Guidelines and the diag- Wales, one to Scotland, two to Northern Ireland and nostic process, published in key clinical journals (n = 10); one to outside the US and Canada (and therefore in- d) Guidelines from professional bodies (n = 4). It should cluded the UK). Five guidelines did not specify a geo- be noted that journal articles, in some cases, are de- graphical remit but were published in the UK in signed to give an update rather than a full guideline clinician-facing journals. All guidelines were aimed at therefore the lack of detail in some areas should not ne- HCPs, with six aimed at particular specialist roles cessarily be seen as a weakness. that included psychiatrists, psychologists, speech and Of the 21 guidelines considered, six dealt with diagno- language therapists, community practitioners and sis of adults, seven with children and eight with all ages. paediatricians.
Hayes et al. BMC Psychiatry (2018) 18:222 Page 6 of 25 Table 3 Key characteristics of guidelines Title Year Author(s) Publisher/ Geographical Target Age Range of Diagnostic Age at which Journal remit audience range diagnoses criteria symptoms are covered referred to recognised DIAGNOSTIC CRITERIA The ICD-10 1993 N/A World Health International Clinical, All ages Pervasive N/A Before age of Classification Organisation educational development 3 years of Mental and and service disorders (childhood Behavioural use autism); after age Disorders: 3 (atypical clinical de- autism). scriptions and diagnostic guidelines  Diagnostic 2013 N/A American International Clinicians, All ages Autism N/A During 2nd year and Statistical Psychiatric students, Spectrum of life (12– Manual of Association practitioners, Disorder 24 months) or Mental researchers earlier than Disorders 12 months if (Fifth Edition) developmental  delays are severe NATIONAL CLINICAL GUIDELINES NICE Autism 2011 National National England and Healthcare From Pervasive ICD-10 or May be in under 19 s: Collaborating Institute for Wales professionals birth up developmental DSM-IV uncertainty recognition, Centre for Health and to disorder (PDD) before referral and Women’s and Care 19 years 24 months, or diagnosis Children’s Excellence with (NICE CG128) Health (NICE) developmental  age of less than 18 months Six Steps of 2011 Regional Health and Northern Health care Up to Autism ICD-10, DSM- Pre-school. Autism Care Autistic Social Care Ireland and education the age spectrum IV, NICE, SIGN, Language delay for children Disorder Board professionals, of disorder NZ Guide- by the age of and young Network for parents, carers, 18 years lines, NHS two years. people in Northern service users Map of Northern Ireland and providers. Medicine Ireland (RASDN)  Autism 2012 National National England and Health and Adults Autism N/S N/A Spectrum Collaborating Institute for Wales social care aged 18 spectrum *ICD-10 Disorder in Centre for Health and providers and and over disorders specified in adults: Mental Health Care commissioners full version of diagnosis and Excellence CG142  management (NICE) (NICE CG142)  Autism Adult 2013 Regional Health and Northern Professionals, Adults Autism DSM-5 and N/S Care Pathway Autistic Social Care Ireland adults and from age spectrum ICD-10, NICE (RASDN)  Spectrum Board families 18 disorders guidance Disorder CG142. Network Assessment, 2016 N/A Scottish Scotland Healthcare Whole Autism ICD-10 and Autism can be diagnosis and Intercollegiate professionals age spectrum DSM-5 reliably interventions Guidelines range disorder diagnosed for autism Network between the spectrum ages of 2–3. disorders: A national clinical guideline (SIGN 145) 
Hayes et al. BMC Psychiatry (2018) 18:222 Page 7 of 25 Table 3 Key characteristics of guidelines (Continued) Title Year Author(s) Publisher/ Geographical Target Age Range of Diagnostic Age at which Journal remit audience range diagnoses criteria symptoms are covered referred to recognised GUIDELINES FROM PROFESSIONAL BODIES RCSLT (Royal 2005 N/A Royal College UK Speech and Children Autism ICIDH-2 (for N/S College of of Speech and language and spectrum general Speech and Language therapists adults disorder clinical Language Therapists assessment) Therapists Clinical Guidelines (Autism) a Good practice 2014 Royal College Royal College UK Psychiatrists Adults Autism ICD-10, DSM- N/S in the of of Psychiatrists working with from age 5, NICE, 2012. management Psychiatrists adults of at 18 of autism least normal (including intellectual Asperger ability syndrome) in adults (RCPych CR191)  Autism 2016 Stuart- British UK Psychologists All ages Autism ICD-10 and Both diagnostic Spectrum Hamilton, Psychological Spectrum DSM-5, NICE, manuals consider Disorders: Dillenburger, Society Disorder 2011. ASD indicators to Guidance for Hood & be present by the Psychologists Austin age of 36 months (BPS) b although some children can be identified under the age of 24 months. BMJ Best 2017 Parr British Medical Outside US Medical All ages Autism DSM-IV, DSM- More than 80% Practice &Woodbury- Journal and Canada Practitioners Spectrum 5 & ICD-10. of children with online Smith Disorder NICE, SIGN, ASD show clear resource  AACAP, AAP, behavioural signs NZ ASD by the age of guideline, 24 months, some AAN indicators in 12– 18 months JOURNAL ARTICLES Diagnosis and 2011 Blenner, British Medical N/S General Children Autism DSM-IV TR or N/S management Reddy & Journal clinicians Spectrum ICD-10 of autism in Augustyn Disorder childhood  Diagnosis and 2012 Carpenter Advances in N/S Those All ages Autism DSM-IV TR or N/S assessment in Mental Health designing and Spectrum ICD-10. Gill- autism and providing Disorder berg’s for AS. spectrum Intellectual diagnostic There are disorders  disabilities services others but few use them (Kopra et al., 2008; Chiap- pedi et al., 2010). Autism 2013 Garland, Advances in UK Psychiatrists Adults Autism ICD-10 and To satisfy ICD-10 spectrum O’Rourke & Psychiatric Spectrum DSM-5, NICE criteria for child- disorder in Robertson Treatment Disorders hood autism, im- adults: clinical pairments must features and manifest before the role of the age of the 3 years psychiatrist 
Hayes et al. BMC Psychiatry (2018) 18:222 Page 8 of 25 Table 3 Key characteristics of guidelines (Continued) Title Year Author(s) Publisher/ Geographical Target Age Range of Diagnostic Age at which Journal remit audience range diagnoses criteria symptoms are covered referred to recognised Recognising, 2012 Howlett & Every Child England and Professionals Children Autism NICE The core autism referring and Richman Journal Wales working with and behaviours are diagnosing children and young typically present autism  young people people in early childhood; but features can appear different with age or change with circumstances Autism  2013 Lai, The Lancet N/S N/S All ages Autism or the DSM-5, ICD- N/S Lombardo & autism 10 Baron-Cohen spectrum Autism  2009 Levy, Mandell The Lancet N/S N/S N/S but Autism DSM-IV and Parents often & Schultz primarily Spectrum ICD-10 aware from age talks Disorder 18 months, a about diagnosis is often children not made until 2 years after the initial expression of parental concern. Autism 2009 O’Hare Archives of N/S but Paediatricians Children Autism ICD-10 and N/S spectrum Disease in relates and Spectrum DSM-IV, SIGN disorder: Childhood: primarily to young Disorder diagnosis and Education and SIGN people management Practice guidelines  Edition Recognition, 2012 Pilling, Baron- British Medical England and N/S Adults Autism N/S N/S referral, Cohen, Journal Wales diagnosis, Megnin- and Viggars, Lee & management Taylor of adults with autism: summary of NICE guidance  Autism 2011 Reynolds Community UK Community Children Autism ICD-10, DSM- N/S Spectrum Practitioner practitioners Spectrum IV Disorders in Disorder childhood: a clinical update  The NICE 2014 Wilson, Advances in England and Health care All adults Autism N/S N/S guideline on Roberts, Mental Health Wales professionals, spectrum recognition, Gillan, Ohlsen, and service disorder referral, Robertson & Intellectual managers, diagnosis and Zinkstok Disabilities service users, management practitioners of adults on the autism spectrum  a Pre 2009 but constitutes current guideline in use from RCSLT b Currently under review but represents the most recent published guideline from BPS Guidelines acknowledged that there is variation in rates Definitions of autism of identification, assessment criteria and practice ; that Definitions of autism in ICD-10 and DSM-5 differed. there is increasing demand for diagnostic services ; and ICD-10 took a categorical approach with a definition of that increased awareness of autism is likely to lead to a rise Pervasive Development Disorders that included in people presenting for assessment . sub-diagnoses within it; whilst DSM-5 used the overarching
Hayes et al. BMC Psychiatry (2018) 18:222 Page 9 of 25 dimensional concept of Autism Spectrum Disorder. Some Narrative review of social factors inconsistencies were present related to the differences in We used three inter-related elements as an organising classification in ICD-10 and DSM-5, therefore, for example, framework to describe the social factors identified in Rett’s Syndrome and Asperger’s Syndrome were clinical guidelines: operational, interactional and con- sub-diagnoses of Pervasive Development Disorders in textual. These factors do not stand alone from each ICD-10, but were encompassed in the overarching diagno- other, indeed, they appear to have a dynamic and sis of Autism Spectrum Disorder in DSM-5 [32, 33]. Defini- inter-dependent relationship, however, organising them tions of autism in all other guidelines considered in this provides a way to map their range and scope (see Fig. 3). study were broadly consistent with the idea of a ‘spectrum’. Most guidelines (n = 14) referred to symptom criteria Operational factors from both ICD-10 and the (then) current version of Operational factors included how different assessment DSM (DSM-IV up to 2012 and DSM-5 from 2013), with processes impact on the diagnostic decision, such as eight guidelines recommending that HCPs should use which tools and processes are engaged and when; what the current version of DSM or ICD criteria for diagnosis. constitutes an assessment; and whether the decisions Exceptions were NICE CG142, which was based on take place as part of diagnosis or formulation. Table 4 ICD-10, ; Royal College of Speech and Language outlines some of these operational factors. Therapists (RCSLT) , which drew on the Inter- national Classification of Functioning, Disability and The assessment process Health (ICIDH-2) for general clinical assessment ; One guideline suggested that clinical practice varies and journal articles describing NICE guidelines which greatly  and we found this to be mirrored in CPGs made no mention of DSM/ICD (n = 3). with a wide range of potential assessment processes in- Overall, therefore, the guidelines were mixed in their cluded. DSM-5 recommended that a diagnostic assess- recommended sources for symptom criteria due to the ment should include gathering multiple sources of current differences in the two classification systems. information from clinician’s observations, caregiver Fig. 3 Social factors in clinical guidelines
Hayes et al. BMC Psychiatry (2018) 18:222 Page 10 of 25 history and self-report (where possible). National guide- tools without specifically recommending any particular lines, although providing far greater detail, tended to instrument(s), although regular references were made to include these areas and additionally suggested various other ADOS (n = 13), ADI-R (n = 11), DISCO (n = 9) and 3di detailed assessments such as gathering wider functional/as- (n = 6). The NICE guideline for children and young sessment information ; using documentary evidence, people emphasised use of DSM/ICD criteria rather than assessing risks, and assessment of challenging behaviour tools; the NICE guideline for adults did the opposite [9, ; assessing for co-conditions [9, 39]; physical examination 39]. Overall, findings concurred with Penner et al. in ; comprehensive educational assessment ; assess- that guidelines varied substantially in their recommenda- ment of communication, neuropsychological functioning, tions for use of diagnostic tools . motor and sensory skills, and adaptive functioning . Professional guidelines added other factors such as compre- Diagnosis and formulation hensive cognitive assessment  and impact of individual’s There were differences in the way guidelines described mental health , accounts of relationships in different the relationship between, or referred to, diagnosis, settings  and observation in school or another setting assessment, profiling, needs assessment and wider . Journal articles tended to reflect national guidelines formulation. All guidelines encompassed the concept of and varied in the level of detail outlined for assessment fac- a wider (needs related) assessment but few explicitly sep- tors. Two articles gave little detail of assessment processes arated out these processes or discussed how this related but one referred readers directly to NICE guidelines for fur- to a diagnostic assessment. One exception to this was ther detail  and the other was aimed at community the Regional Autistic Spectrum Disorder Network practitioners who would be more likely to be involved in re- (RASDN) children’s guideline, which separated the diag- ferral than diagnosis . Articles also included assessment nostic from the formulation process, describing the of co-occuring conditions (e.g. [47–52]) and a physical or latter as including examination of the person’s wider medical examination (e.g. [47, 50]). Additional assessment environment: areas included assessment of specific domains such as fam- ily stressors and coping abilities . In one guideline  ‘The outcome of the formulation should be to it was suggested that some clinicians bypass ICD/DSM cri- understand an individual in a more global holistic way teria and instead undertake: rather than merely in terms of signs and symptoms, as in the case of diagnosis’ . ‘…testing for specific underlying difficulties such as lack of theory of mind or lack of central coherence The RCPsych guideline suggested that diagnosis is and then using these to decide the presence of the only one component of the wider multidisciplinary exer- behavioural criteria’ . cise . Some guidelines did not mention formulation but suggested a profile of strengths, abilities and weak- The RCSLT guideline  differed from most by sug- nesses should be carried out alongside a diagnostic gesting consideration of theories relating to the triad of assessment (e.g. [10, 39]). Adult guidelines from RASDN social impairments, such as executive functioning defi- separated out a diagnostic assessment from a full needs cits, motivation, memory and central coherence, as well assessment ; NICE guidelines for adults considered as social interaction and communication. However, some comprehensive assessment to include diagnostic, (e.g. ) suggested cognitive or neuropsychological needs and risk assessment ; whilst the full chil- testing whilst SIGN guidelines stated that such assess- dren’s guidelines similarly brought together the diag- ments are ‘useful for individual profiling but are not nostic and needs elements under ‘autism diagnostic diagnostic instruments’ . This anomaly may reflect assessment’, explaining that: the specialist role of SLTs in the diagnostic process. Overall, we would concur with a reflection in one ‘..the label of autism does not constitute a complete guideline, which noted how the HCP may be faced with diagnostic assessment and a profile of the child or ‘possible uncertainty as to where to go next in their in- young person’s strengths and weaknesses is also vestigation framework as this could be potentially enor- essential. This requires a multidisciplinary team which mous’ . has the skills to undertake the assessments necessary for profiling’ . Diagnostic tools Recommendations about the use of diagnostic tools were Operationally, therefore, there were contradictions mixed. One third of the guidelines (n = 7) did not specify between guidelines about what constitutes the diagnostic any particular tool for diagnostic assessment. Other process, how it should be structured and which diagnos- CPGs tended to suggest the consideration of a range of tic tools should be used.
Table 4 Key diagnostic recommendations CPG Recommended tools MDT recommended MDT membership Assessment targets Key features of assessment DIAGNOSTIC CRITERIA ICD-10 N/S N/S N/S N/S Diagnose on the basis of behavioural (1993)  features DSM-5 No specific tool N/S N/S N/S Careful clinical history & summary of (2013)  social, psychological & biological factors. Multiple sources of information: • clinician’s observations • caregiver history • self-report (where possible) Clinical judgement Hayes et al. BMC Psychiatry (2018) 18:222 NATIONAL CLINICAL GUIDELINES NICE No specific tool recommended Autism team members should carry Autism team made up of Start the autism diagnostic Seek report from the pre-school or CG128 out assessment (short version). A Paediatrician &/or Child & Adolescent assessment within 3 months school; gather additional health or (2011)  diagnosis can be made by a single Psychiatrist, SLT, Clinical &/or of referral. Follow up social care information. Include in experienced HCP; profile of strengths Educational Psychologist & access to appointment within 6 weeks every autism diagnostic assessment: & weaknesses is essential, and paediatrician/paediatric neurologist, of assessment. • questions about parent/carer/child’s requires MDT  (full version). Child & Adolescent Psychiatrist, concerns Educational Psychologist, Clinical • details of the child’s experiences of Psychologist, OT, if not in team. Also home life, education and social care consider specialist health visitor or • developmental history, focusing on nurse, specialist teacher or social developmental and behavioural worker. features • assessment (through interaction with and observation of the child or young person) of social and communication skills and behaviours • medical history, including prenatal, perinatal and family history, and past and current health conditions • physical examination • consideration of the differential diagnosis • systematic assessment for conditions that may coexist with autism • development of a profile of the child’s or young person’s strengths, skills, impairments and needs that can be used to create a needs- based management plan, taking into account family and educational context • communication of assessment findings to the parent/carer/child Page 11 of 25
Table 4 Key diagnostic recommendations (Continued) CPG Recommended tools MDT recommended MDT membership Assessment targets Key features of assessment RASDN No specific tool The use of MDT approach is Involving at least two disciplines: Referral screened within Step one: Initial directed (2011)  necessary paediatrician; child psychiatrist; SLT, 5 days. Info provided within conversation. OT, clinical psychologist; specialist 4 weeks. 13 weeks to first Step two: Integrated multidisciplinary health visitor; mental health appointment. Feedback team assessment (leads to diagnosis/ practitioner (CAMHS); social worker; within 4 weeks, report within non-diagnosis) includes: nurse; ed. psych. Teacher; other 6 weeks of formulation. • medical history inc: birth history, trained professionals family history, & general medical concerns • developmental history focusing on developmental & behavioural concerns • observational assessment of the Hayes et al. BMC Psychiatry (2018) 18:222 child/young person • further assessment/observations in another setting (school/home) • physical exam in some groups • specific assessments may be required, e.g. SLT assessment • educational assessment Step three: Integrated MDT formulation (leads to wider understanding of difficulties) Step four: family feedback and care planning NICE Identification: Consider AQ-10 (with- Comprehensive assessment should Specialist autism team made up of: N/S During a comprehensive assessment, CG142 out LD); Brief assessment (with LD). be team based (short version). At a Clinical Psychologists, Nurses, OTs, enquire about and assess the (2012)  Diagnosis and assessment: AAA in- minimum by a qualified clinician Psychiatrists, Social Workers, SLTs, following: cluding AQ and EQ; ADI-R; ADOS-G; usually a clinical psychologist, Support Staff • core autism signs and symptoms ASDI; RAADS-R (without LD). ADOS-G; psychiatrist or neurologist  (full that have been present in ADI-R (with LD); DISCO, ADOS-G, ADI- version). childhood and continuing into R adulthood • early developmental history, where possible • behavioural problems • functioning at home, in education or in employment • past and current physical and mental disorders • other neurodevelopmental conditions • hyper- and/or hypo-sensory sensitiv- ities and attention to detail. Direct observation of core autism signs and symptoms especially in social situations. Assess for possible differential diagnoses and coexisting disorders Assess risks; Develop care plan, provide health passport, consider Page 12 of 25
Table 4 Key diagnostic recommendations (Continued) CPG Recommended tools MDT recommended MDT membership Assessment targets Key features of assessment 24 h crisis management plan; Assess challenging behaviour Consider further investigations on individual basis RASDN Screening: GADS, GARS-2, AASQ, Diagnosis must be team based & At least two of: clinical psychology Final report to be provided As an absolute minimum, elements 2, (2013)  ASAS, NAS, AQ-10 History: ADI-R, draw on a range of professionals. (core), psychiatry, SLT, LD/MH within 6 weeks of 3 & 4 must be included in the DISCO, ASDI, RAADS-R; nursing; OT, other appropriately assessment. assessment. Direct assessment: ASIT, HSST, SSQ, trained professionals. 1. Neurodevelopmental history, Observation: ADOS-G corroborated via relative/family; 2. Direct autism specific assessment with individual; 3. Observational recording of Hayes et al. BMC Psychiatry (2018) 18:222 assessment sessions; 4. Clinical judgement. May also include; standardized measure of adaptive functioning; assessment of language & communication skills; functional assessment of problematic behaviour; full needs assessment SIGN 145 Identification: AQ-10 Diagnosis and MDT … should be considered as the Experienced professionals N/S • History taking (informant interview): (2016)  Assessment: E.g. ADI-R, DISCO, 3di, optimum approach prenatal, perinatal & developmental CARS, CARS-2, ADOS-G. NAPC and history; description of the current RCPsych guides. problems experienced; family history; description of who is in family; coexisting conditions and differential diagnoses • Clinical observation/assessment (individual assessment/interview): directly observe & assess the individual’s social & communication skills and behaviour • Contextual and functional information from a variety of settings and people • Profile of the individual’s strengths and difficulties: communication, cognitive, neuropsychological and adaptive functioning; motor and sensory skills • Biomedical investigations on an individual basis when clinically relevant • Assessment of mental health needs, wellbeing and risk should be considered Page 13 of 25
Table 4 Key diagnostic recommendations (Continued) CPG Recommended tools MDT recommended MDT membership Assessment targets Key features of assessment GUIDELINES FROM PROFESSIONAL BODIES RCSLT N/S Should always be multidisciplinary & This may include SLT, child N/S During assessment, consideration (2005)  multi-agency to achieve optimum psychology, child psychiatry, clinical must be given to the triad of social benefit. psychology, paediatrician, EdPsych., impairments, as well as theories OT & teacher relating to the triad, for example sensory sensitivity and integration; intersubjectivity; executive functioning deficits; motivation; memory and central coherence. • Joint attention • Readiness & ability to focus & shift attention Hayes et al. BMC Psychiatry (2018) 18:222 • Social interaction • Use of communicative strategies • Evaluation of child’s play • Info about learning potential • Impact of individual’s mental health RCPsych Identification: AQ, RAADS-R. RPsych NICE advocates multidisciplinary MDT usually includes psychology & N/S • Speak with informant (2014)  Guide. Questionnaires: ASAS, GARS, exercise, but psychiatrists might be nursing as core membership • Take neurodevelopmental history GARS-2, SCQ, SRS-2, AQ, AQ-10, expected to diagnose • Consider obtaining early health RAADS-R, SCDS, ABC. Diagnostic in- straightforward cases & be alert to records terviews: ADI-R, ADOS-2, DISCO, 3Di, indications for a more specialist Might include assessment for; AAA, RPsych Guide, PDD-MRS, ASDI, assessment. cognitive ability, functional ability, CARS-2, HBS, WADIC Assessment for coexistent neurodevelopmental associated dev disabilities: AQ, EQ, disabilities, coexistent psychiatric SQ, Faces test, eyes test, Faux Pas disorders, mental capacity, risk of Recognition Test, SSQ, Dewey’s Social harm/offending, medical problems Stories, Adult/Adolescent sensory Wherever possible, it is essential that profile the clinician gets accurate accounts of relationships in different settings (e.g. at work & at home), particularly where they might be more demanding for that individual. BPS (2016) e.g. ADOS, ADI, DISCO, ADI-R It is recommended that assessment At least one psychologist, in addition It is recommended that The taking of a developmental  is multidisciplinary. to other relevant personnel, such as assessment is timely. history with carers as well as OTs, mental health workers etc. observation across different settings. Information from a range of sources. Psychologists contribution to identification and assessment may include: • Assessment of protective factors, strengths and abilities • Assessment of associated mental health issues • Comprehensive developmental and family history • Assessment of learning styles • Assessment of strengths and of barriers to learning Page 14 of 25
Table 4 Key diagnostic recommendations (Continued) CPG Recommended tools MDT recommended MDT membership Assessment targets Key features of assessment • Assessment of environmental conditions for learning • Functional behavioural assessment • Assessment of social communication style • Assessment of the needs of families. • Comprehensive cognitive assessment, which may include psychometrics if deemed necessary BMJ Screening: CHAT, M-CHAT Diagnosis should be confirmed or Paediatricians, child psychiatrists, N/S A combination of: (2017)  Parental questionnaires: SCQ, CAST, made by an appropriately trained adult psychiatrists or psychologists, & • neurodevelopmental history CARS; for adults, the SRS, ASQ. professional, ideally working as part other professionals Hayes et al. BMC Psychiatry (2018) 18:222 • standardised interview, & Diagnosis and Assessment: eg ADOS- of MDT • observational assessment G, ADI-R; 3di; DISCO Gather information about functioning in more than one environment; A full neurological examination including measurement of head circumference is routinely performed in all children. JOURNAL ARTICLES Blenner et Screening: CHAT, PDDST, STAT, Paediatric neurologists, N/S N/S Comprehensive evaluation that al (2011) CHAT-23, M-CHAT, ITC, SCQ. developmental & behavioural includes  Diagnosis: ADOS. paediatricians, child psychiatrists or • lifetime & family history psychologists, or, ideally, MDT. • review of medical & educational records • behavioural observation • physical examination • administration of standardised instruments such as the autism diagnostic observation schedule • cognitive & adaptive assessment • review of established DSM or ICD diagnostic criteria • Assessment of specific domains, such as communication skills, sensory and motor problems, and family stressors and coping abilities • Look for causes & co-occuring con- ditions (further tests) Carpenter Screening: ASDASQ, AQ and EQ, Diagnosis can be made by one N/S Labour intensive - up to 8 h Three elements (judged against (2012)  AAA. AQ-10, RAADS-R. RCPsych clinician. Wider assessment requires to make & document criteria of ICD-10 or DSM-4): guide. a team. A variety of professionals can diagnosis. • interview with person Observation: PDD-MRS (with ID); diagnose. • observation ADOS-G. • interview with an informant Interview: ADI-R, DISCO, 3Di. Some clinicians bypass the criteria & AAA to provide structure. test, for example, theory of mind, central coherence. Consider possible co-morbidities Page 15 of 25
Table 4 Key diagnostic recommendations (Continued) CPG Recommended tools MDT recommended MDT membership Assessment targets Key features of assessment Holistic assessments needs to be structured around: • Need for social support and for help with employment • Sensory and processing difficulties • Medical issues • Neuro-psychiatric conditions • Practical skills, including motor difficulties • Social interaction skills • Emotional understanding (of self and others) and personal coping Hayes et al. BMC Psychiatry (2018) 18:222 strategies • Interests and preoccupations • Sexual interests and future desires • Insight and future desires and motivation • Psychiatric concerns • Other behaviours that may get person into contact with the law • Support for carers Garland et Screening: AQ-50, AQ-10 When mental health difficulties also Outlines psychiatrist’s role. Enough time should be set • History of presenting complaint al. (2013) Diagnosis: ADI-R, ADOS = G, RCPsych exist, the expertise of the wider MDT aside • Psychiatric history  Diagnostic Interview Guide is likely to be engaged. • Family history • Medical history • Developmental history • Personal & social history • Mental state examination • Assess for comorbid disorders inc. neurodevelopment disorders • Physical assessment • Functional level assessment • Assess risk • Assessment of care & support needs • Consideration of need in areas of education & employment Howlett & No specific tool If the local autism team does not Minimum, paediatrician &/or child & Timely & appropriate. Follow Should provide detailed Richman have the skills to assess these adolescent psychiatrist, SLT & clinical up appointment within six developmental profile. Based on NICE (2011)  children themselves, they should &/or Ed.Psych. Other professionals … weeks of assessment guidance. liaise with professionals who are able specialist health visitor, nurse, to do so specialist teacher, social worker Lai et Screening: CHAT, ESAT, M-CHAT, ITC, Assessment needs to be N/S N/S • Interview with the parent or al....... Q-CHAT, STAT (for young children); multidisciplinary caregiver (2013)  SCQ, SRS, SRS-2, CAST, ASSQ, AQ (for • Interaction with the individual older children and adolescents); AQ, • Collection of information about RAADS-R (FOR ADULTS). Diagnosis behaviour in community settings and assessment: ADI-R, DISCO, 3Di • Cognitive assessments (for structured interview); ADOS, • Medical examination Page 16 of 25 • Co-occurring conditions
Table 4 Key diagnostic recommendations (Continued) CPG Recommended tools MDT recommended MDT membership Assessment targets Key features of assessment ADOS-2, CARS, CARS-2 (observational measure). Levy et al SCREENING: Q-CHAT, M-CHAT, FYI, These assessments should be The MDT should include clinicians • Use ICD or DSM criteria (2009)  ECI-4, CSI-4, SCQ, ASDS, KADI, AQ- multidisciplinary skilled in speech & language therapy, • Core and comorbid symptoms, Child, A (AUTISM) ABC (autism), occupational therapy, education, cognition, language, & adaptive, PDDRS, PDD-MRS, DBC, DBC-ES, psychology, & social work. sensory, & motor skills. PDDBI, ABC (aberrant), CCC, SRS, RBS- • Review of caregiver concerns, R, SCDC. Diagnosis and assessment: descriptions of behaviour, medical PIA-CV, DISCO, ADI-R, 3Di. CHAT, history, & questionnaires. STAT, AOSI, ADOS, CARS • Include stage 1 data. • Observations across settings Hayes et al. BMC Psychiatry (2018) 18:222 • Cognitive, communication, & ASD- specific assessment • Medical assessment • Differential diagnosis O’Hare Screening: M-CHAT, NAPC Checklist A multidisciplinary diagnostic Paediatricians are essential members. N/S • Direct clinical structured (2009)  Diagnosis: ADOS-G, SRS approach is recommended observations • Critical that information is gathered from different settings, outwith the clinic – there are structured questionnaires for parents/teachers • Physical exam and other specialist tests as required Pilling et Identification: AQ-10. N/S N/S N/S Inquire about & assess the following: al. (2012) • Core autism signs & symptoms  • Early developmental history • Behavioural problems • Functioning at home, education, employment • Past & current physical & mental disorders • Other neurodevelopmental conditions • Neurological disorders (for example, epilepsy) • Communication difficulties • Hypersensory &/or hyposensory sensitivities & attention to detail • Carry out direct observation of core autism signs & symptoms especially in social situations • Functional analysis Reynolds No specific tool N/S N/S N/S Observed behaviours with patient (2011)  presenting symptoms from ‘Triad of Impairments’: social interaction, social communication, social imagination Identification: AQ-10 Should be carried out by MDT N/S N/S Page 17 of 25 consisting of professionals who have
Table 4 Key diagnostic recommendations (Continued) CPG Recommended tools MDT recommended MDT membership Assessment targets Key features of assessment Wilson et Diagnosis and assessment: ADI-R; experience in diagnosing autism A comprehensive assessment of al (2013) ADOS-G. AAA, ADI-R, ADOS-G, ASDI, (from NICE). autism should involve an assessment  RAADS-R (without ID). ADI-R and of ADOS-G (with ID). DISCO, ADI-R, or • core autism signs and symptoms ADOS-G. • early developmental history, where possible, and in the absence of an informant written information, such as school reports may be used • behavioural problems • functioning at home, in education, or in employment • past and current physical and Hayes et al. BMC Psychiatry (2018) 18:222 mental disorders • other neurodevelopmental conditions • neurological disorders (e.g. epilepsy) • sensory processing and sensory sensitivity issues Assess coexisting mental health disorders. Risk assessment. Functional analysis for challenging behaviour Key OT Occupational Therapist, SLT Speech and Language Therapist, HCP Healthcare professional, MDT Multidisciplinary team, Ed.Psych Educational Psychologist Page 18 of 25
Hayes et al. BMC Psychiatry (2018) 18:222 Page 19 of 25 Interactional factors the person or family may disagree with or be reluctant to Interactional factors related to how the dialogue between accept a diagnosis or, alternatively desire one  and be HCPs and between HCPs and families impacts on the determined on a particular outcome, which can lead to assessment process. These include how consensus is misleading results . Carpenter asserted that some reached, how disagreement is resolved and how the people may begin to see diagnosis as a desirable outcome views of the person and family are integrated into the and pre-prepare answers based on structured interviews decision-making process. published on the internet . The potential for disagree- ment or desire for diagnosis, therefore, may impact on the Multidisciplinary assessment versus single practitioner interaction with the person or their family. So, although the assessment relationship with the patient/family is considered within Where specified, all guidelines advocated for diagnosis CPGs, there is little guidance as to how HCPs might deal to take place within a multidisciplinary setting with vari- with patient/family desire or disagreement. ous guidelines suggesting this was ‘necessary’ , the ‘optimum approach’  or ‘ideal’  (See Table 4). Contextual factors Some suggested (n = 4) that an appropriately trained and There were factors related to the way in which HCPs inter- experienced single professional is sufficient to diagnose pret symptoms in different settings, how diagnostic thresh- in particular cases, but to be alert for indications for a olds are judged against criteria and included considerations more specialist assessment  and with access to around the impact and consequences of a diagnosis. multidisciplinary support if required . Despite this almost universal recommendation, the ex- Interpreting needs tended version of NICE children’s guidelines (and cited All national guidelines (n = 5) outlined the requirement to by SIGN  and Carpenter ) questioned the evi- consider the needs, preferences and values of the individ- dence base for multidisciplinary assessment reporting a ual and their family and/or support them to communicate study  that showed moderate agreement between an their needs and concerns. Most guidelines (n = 17) de- individual HCP and an MDT in making a diagnosis, but scribed elements of diagnosis that relate to either family stating that it was a low quality study . These guide- environment, family needs and concerns, circumstances, lines also suggested in practice that a diagnosis can be relationships, functioning, experiences in different set- made by a single experienced HCP but that a compre- tings, contextual information or level of support needs. hensive profile of the patient requires a multidisciplinary Many guidelines reflected the need to consider assessment approach . SIGN guidelines also cited research  of support required. Enquiries should be made about how which demonstrates that parents value a multidisciplin- symptoms impact on function within the family, at home, ary assessment . school or work [9, 39, 47, 54, 58]. Overall, therefore, there None of the guidelines in this review dealt with how was a focus not only on the assessment of symptoms, and HCPs come to a consensus within a multi-disciplinary the way in which these affect the daily life of the person context, although Northern Ireland guidelines recom- and their family, but the wider environmental and social mended that training should include the promotion of context of the person and the way in which they are sup- collaborative and innovative working  and that clini- ported, or not, by that context. cians must understand the profession specific roles and responsibilities of the overall team [44, 54]. Masking and social context Therefore, most guidelines referred to MDTs as best Some guidelines (n = 6) reported the difficulties of diag- practice, but lacked recommendations about how roles nosing autism when compensation strategies may ‘mask’ within MDTs are negotiated, how disagreement is re- difficulties in some contexts, particularly as an adult solved (other than second opinion outside the team); or , and in girls  where autism may go unrecog- how teams should work together, a factor that is ac- nised. Some suggested that individuals may come for- knowledged by NICE adults guideline . ward for diagnosis when their circumstances change and/or stressors increase (e.g. [10, 45, 54]). Some guide- Interaction with the person and their family lines (n = 5) noted that cultural differences will exist in Many guidelines (n = 9) outlined the importance of keep- norms for social interaction or that cultural variations ing the person/family informed and involved throughout can deliver misleading signs and symptoms. DSM-5 sug- the process or recommended a person-centred approach. gested that the boundaries between normality and path- Some described the relationship with the person coming ology differ between cultures and the level at which for diagnosis and their family as a partnership (e.g. NICE experience may become problematic may differ . adult guideline ) or as person-centred (e.g. RASDN adult SIGN suggested that those with autism may not have guideline ). Some guidelines (n = 6) acknowledged that met ‘normal’ adult milestones in work, relationships or
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