Clinician’s Manual on Autism Spectrum Disorder

Why the definition of autism needs to be refined
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Despite this uncertainty, CPGs generally proposed a systematic approach to diagnosis and, in some cases, asserted that progress has been achieved in establishing consensus around a behavioural definition and established systematic clinical assessments e. Eight guidelines stressed the key role of clinical judgement in the diagnostic process. DSM-5 outlined that the use of diagnostic criteria should be informed by clinical judgement [ 33 ] and ICD suggested that guidelines should be used flexibly in clinical work [ 32 ].

Uncertainty, clinical judgement and clinician experience, therefore, were all identified as important factors in the diagnostic process. The value of the diagnosis was generally described as a way to provide appropriate support, intervention and resources. NICE guidelines for children and young people clarified this:.

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However, NICE guidelines for adults acknowledged that adults who are diagnosed may receive no support due to lack of services [ 9 ] and Pilling et al. Although some guidelines acknowledged that people may not want a diagnosis and the label it brings with it e. Some guidelines considered that diagnosis can provide relief, understanding or an opportunity to move on with increased support [ 11 , 39 , 45 ].

Many guidelines stressed the importance of early diagnosis as this enables early intervention which leads to improved health outcomes e. Overall, guidelines reflected a concern about the potential impact or benefits on the child or adult receiving a diagnosis and considered positive factors such as access to support and intervention, increased understanding or relief; as well as potential negative impacts such as stigma.

To conclude, whilst CPGs appeared to frame a methodical and clinical diagnostic process, they also rehearsed a number of subjective dilemmas that HCPs have to negotiate along the way. Some CPGs themselves drew attention to social issues that muddle the process: the difficulties of establishing a clear threshold in a condition where symptoms are impacted by the stressors of environment [ 11 ]; the problem of relying on mechanistic assessments or algorithms [ 11 , 48 ]; the crucial role of clinical judgement [ 54 ]; the possibility of diagnostic uncertainty through disagreement, lack of local expertise or when a complex coexisting condition is present [ 9 ]; the complexity caused by interaction with co-occurring conditions; masking of autism by comorbid conditions in secondary care [ 58 ]; the impact of good or poor social support and coping strategies on how symptoms present [ 33 ], to name a few.

We found that CPGs varied in how they described the diagnostic process in relation to use of diagnostic tools, key elements and structure of the diagnostic process for example how diagnosis related to wider needs assessment and how autism was classified, defined either by current versions of DSM or ICD. In addition, whilst some recommendations were clear and universal, for example, recommendations for multidisciplinary working, there was little guidance as to how this should work in practice.

In addition, we found that uncertainty was central to many diagnostic decisions, placing a great emphasis on clinical judgement. Overall, therefore, our narrative review found that 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; and presented a context of uncertainty which appeared to be central to the diagnosis of autism.

We argue that clinical guidelines for autism diagnosis illuminate the process of diagnosis as social rather than straightforwardly clinical, and that judgement is required to consider a number of sometimes contradictory and complex social factors. Organising the narrative review findings in relation to operational, interactional and contextual factors enabled consideration of the influence of social factors throughout the diagnostic process.

In the wide range of inter-related assessment processes that HCPs negotiate in order to make the diagnostic decision, the factors considered appear to be both social and medical. Each of these factors had a place in clinical guidelines to a greater or lesser extent but in many cases they were not operationalized to enable a clear and transparent framework. CPGs, therefore, tended to mask whilst paradoxically acknowledging the existence of social factors in the diagnostic process.

A more explicit acknowledgement of social factors and how to manage them might problematize the nature of autism diagnosis altogether: if all these factors have a place in diagnosis, how do they relate to clinical factors and what does it mean for descriptions of symptoms?


Whilst it is not our intention to undermine the utility of diagnostic categories in relation to access to resources or support, there appears to be a need for balance in CPGs between a clinical approach which both recognises and acknowledges the uncertainty of the diagnostic threshold; and a pragmatic or functional approach which responds to individual and wider needs and takes account of social factors.

Clinical guidelines for autism varied in aspects of their key recommendations in operational factors. Ambiguities around which tools to use, the key elements in the diagnostic process and the relationship between diagnosis, assessment and formulation suggest that local practice may be shaped by other factors, such as available resources, experience and professional roles. Which tools are used, whether different elements of the process are considered together, sequentially or inconsistently, and the specific aims of each part of the assessment process may have an impact on diagnostic outcomes.

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A clearer framework would help HCPs to consider which elements of the process are relevant and when. Whilst it might not appear to be in the remit of CPGs to make specific recommendations about how teams are organised and configured, particularly across different health systems, we argue that team functioning as a key shaping factor in diagnosis requires more attention in CPGs, to ensure clarity of roles and transparency for those coming for diagnosis.

Uncertainty about diagnostic thresholds and differences in diagnostic criteria make clinical judgement key to the diagnostic process and yet how this comes about was not clearly defined. The extent to which diagnosis should be based on underlying symptoms versus contextual factors such as wider needs or circumstances of the individual was unclear. In addition, how HCPs consider the consequences of the diagnosis for the patient and their family was unclear, although there was a strong link described between diagnosis and access to support.

Ambiguities in CPGs suggest that guidelines have limitations in how far they are able to promote consistency across practice especially given the lack of a biomarker for autism, the reliance on observed behaviour and family narratives for diagnosis, and the differences across health systems. However, adults, children and families coming for diagnosis might expect a consistent process of assessment in keeping with a framework outlined in CPGs, as CPGs become a fixed reference point both for HCPs and the lay public. There is, therefore, a tension between potential expectations of those coming for diagnosis that there should be a uniform process; and the flexibility 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 it is successfully developed, is likely to remain only one aspect of an interactive diagnostic process, and therefore may not necessarily alleviate some of the difficulties and complexities of diagnosis that we describe. However, as biomarker research develops, it is likely that it will produce important evidence to be considered in the development of future CPGs.

Whilst our narrative review differed in purpose to the systematic review undertaken by Penner et al. We found, as did the authors of this previous review, that guidelines were inconsistent in their recommendations around diagnostic assessment. For example, whilst guidelines generally recommended MDT assessment, some suggested that a single experienced clinician could diagnose [ 11 , 39 , 48 ] and there was little cited evidence for the efficacy of MDT assessment. In addition, CPGs did not provide guidance as to how waiting times where specified would be achieved and we would add that they provided little operational guidance as to how MDT decision-making should operate to be most effective.

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We found, as did Penner et al. Whilst we did not assess guidelines for quality, we agree that there are multiple guidelines that HCPs might access, and that they vary in their level of detail and their recommendations.

Jessica Brian, PhD

We built on Penner et al. Our review of the range of assessment processes that HCPs involved in autism diagnosis may undertake See Table 4 suggested a wide range of choices in assessment processes. Finally, we found that consideration of factors such as interaction with the patient and family, how needs might be defined and assessed, and issues of masking, social context, uncertainty and clinical judgement highlighted the way in which social processes and factors might impact on diagnostic decision-making.

We also found that, despite the CPGs in our study operating within comparable health systems across the UK, CPGs did not make consistent recommendations around how diagnosis might release post-diagnostic resources, and what that means for the process of diagnosis itself. Overall we agree with Penner et al.

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This concise, yet practical handbook will aid in supporting the diagnosis, treatment, and long-term management of autism, including behavioral therapies, . “The purpose is to provide clinicians with a resource to help manage their patients with autism spectrum disorder. It focuses on evidence-based screening, .

Additionally, we suggest that guidelines should acknowledge more explicitly the social framing of diagnosis and support clinicians with a framework which enables them to act pragmatically in the best interests of the patient. We would argue that inconsistencies and lack of operational guidance around social factors in CPGs suggests that local factors such as access to resources and HCP expertise are likely to shape diagnosis more than is explicitly outlined in CPGs.

Unlike Penner et al. Our experience is that HCPs already struggle to find time to meet together in the context of an ever-increasing workload; an extra administrative burden may make this even more difficult.

Clinician’s Manual on Autism Spectrum Disorder

Finally, unlike Penner et al. We would consider these differences as social organisational factors that may impact the assessment process and merit further consideration in the development of future CPGs. Guidelines, therefore, appear to offer a relatively linear and straightforward pathway towards a diagnostic decision in their presentation, with DSM-5 asserting that criteria facilitate an objective assessment of symptom presentations in a variety of settings [ 20 ].

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Chromosomal abnormalities have consistently been reported in persons with ASDs. This progress has been so effective that it has largely replaced conventional cytogenetics as a first-tier test. Cytogenetic abnormalities and fragile-X syndrome in autism spectrum disorder. Autism spectrum disorder ASD is a developmental disorder characterised by disturbance in language, perception, and social skills that affects an estimated 1—2 per 1, people worldwide although the number is as high as 20 per in the US. Search Article search Search. Not surprisingly, the clinical skills and experience of the medical geneticist factor into the likelihood of defining a cause.

However, comparing individual guidelines suggests inconsistencies in this framework and close analysis reveals a more fluid process, disrupting the apparent clinical purity of diagnosis [ 37 ]. Overall, there was a bewildering range of options for HCPs in the assessment process, and a number of different emphases in guidelines which might lead a clinical team one way or another.

Navigating this framework in practice is, therefore, likely to be less systematic than the guidelines might suggest, allowing for, as it must, social and contextual influences. In reality, the clinical pathway for autism diagnosis differs across health systems and trusts across the UK [ 3 ] leading to the potential for a great deal of variation in diagnostic decision-making. Although there has been a recent systematic review of clinical guidelines [ 29 ], we consider our narrative approach to be helpful to understand the complex and sometimes contradictory nature of the diagnostic process.

Methodologically, we undertook a systematic search and included a transparent but pragmatic selection of documents. This is, to our knowledge, the first review which strives to consider where social factors are considered in clinical guidelines for autism diagnosis. One limit was that as it was a review of current guidelines, changes through time were not exposed. Our review was limited to the UK context because health care settings vary widely in international contexts.

In addition, we only examined the content of guidelines rather than how they are used. Whilst CPGs are intended to assist clinical decision-making by improving effectiveness and decreasing variations in clinical practice [ 60 ], one review of guidelines for psychiatric diagnoses suggested that CPGs are not implemented enough in clinical practice due to either lack of agreement or ambiguity between guidelines [ 61 ]. It is likely that there is wide variation in how CPGs are used in practice in autism diagnosis and we plan further studies to consider this.

Social factors were not only explicit in guidelines, but were central to them. HCPs are expected, as outlined in DSM-5, to integrate the social, psychological and biological in case formulation, however, greater clarity about how this should operate would be helpful. Our findings suggest that more detail about how clinical judgement should consider social factors in diagnosis would provide a more transparent guideline for HCPs.

We would not recommend greater rigidity within CPGs when evidence for best diagnostic practice is inconsistent e. Rather we recommend a more explicit acknowledgement of social factors in CPGs with advice about how they should be managed and operationalised to enable more consistency of practice and transparency for those coming for diagnosis.

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Specifically, greater clarification is required related to the sequence and timing of the diagnostic, assessment and formulation processes. The recognition and assessment of needs is both part of the assessment process and inextricably linked to the consequences of diagnosis; guidelines might attempt to consider how these might be reconciled. It would be useful to consider whether guidelines are culturally specific to health services and setting and we would recommend that further narrative reviews should be conducted to examine CPGs in other countries.

DSM-5 and Autism Spectrum Disorders

In addition, greater clarity is required around how multidisciplinary interaction might operate to support consensus decision-making. Further research creating an evidence base on best practice for multidisciplinary decision-making and the use of different diagnostic tools in practice is required, taking into account the complexity of social factors in diagnosis.