The diagnostic process for children, adolescents and adults referred for assessment of autism spectrum disorder in Australia: National guideline RACP Submission
RACP submission to the diagnostic process for children, adolescents and adults referred for assessment of autism spectrum disorder in Australia: National guideline Introduction The Royal Australasian College of Physicians (RACP) welcomes the opportunity to comment on The diagnostic process for children, adolescents and adults referred for assessment of autism spectrum disorder in Australia: National guideline draft for community consultation. This submission outlines the RACP s support for elements of the draft guidelines, as well as concerns around some sections that should be addressed. Key elements of the guideline we support include: 1. Recognition of the importance of examining function and support needs for people diagnosed with autism spectrum disorder (ASD). Two of the most important predictors of outcome are language use/competence and cognitive abilities. Understanding a person s abilities informs intervention, behaviour assessment/management and parenting, amongst other things; 2. Recognition of the importance of the person and the family s experience of the assessment process and the need to be supported through it; 3. The pragmatic two-tiered approach to diagnosing ASD, with a more extensive diagnostic assessment and experienced multidisciplinary team provided for those whose diagnosis is more complex; 4. Recognition that strengths and areas of difficulty can lead to a more nuanced conversation about the future and how to support the person being diagnosed with ASD; and 5. The importance of working collaboratively across disciplines. We acknowledge that variations are likely to exist in approaches to the diagnosis of ASD across Australia, and that there is inequitable distribution of valuable resources for diagnosis and intervention. We support the development of a national minimal standard for diagnosis of ASD that is embedded in a developmental, family-centred, lifespan and ecological approach. Areas about which we have concerns include: These draft guidelines go beyond a minimum standard by introducing a range of complex and intricate new requirements for involved professionals and the diagnostic process. As a result, we are concerned that the draft guidelines will be unlikely to address inconsistencies in current approaches to diagnosis and will introduce new issues with uncertain impact. This raises the possibility that if implemented in their current form, the draft guidelines may lead to further variation in practice and add to the confusion in the field of ASD diagnosis and intervention. Furthermore, the resource implications of these draft guidelines can be expected to be substantial, and warrants serious consideration. This includes aspects of proposed modifications to service delivery, training and monitoring. It contains a large number of qualifications and specifications that have the potential to significantly adversely affect waiting times and current diagnostic services. This is an important clinical guideline for children and young people presenting with developmental concerns that may be part of an ASD, and as such careful and systematic analysis of the literature is vital. We hold concerns about the strength of the evidence base, its interpretation and the use of a modified approach to the NHMRC guidelines approach that is not well defined. Overall, the draft guidelines are very detailed and complex to read, and so an easy read format or summary that captures key points should be considered. It is also important that any guideline recommendation can be meaningfully included within local procedures and policies. The RACP respectfully requests detailed responses to the concerns outlined in this submission and opportunity to further consult with members prior to finalising these guidelines. This is particularly important given the substantial nature of our concerns, RACP representation on the steering committee and our commitment to supporting enhanced diagnostic, and intervention, services for children, adolescents and adults with ASD and other developmental disabilities. We have collaborated with the Neurodevelopmental and Autism Spectrum Disorder Draft National Guidelines RACP Submission 2
Behavioural Paediatric Society of Australasia and Royal Australasian and New Zealand College of Psychiatrists in developing this submission, and recognise their own expertise in matters that relate to the draft guidelines. Specific issues Autism Spectrum Disorder is a neurodevelopmental disorder ASD is a neurodevelopmental disorder with reported prevalence of over one in one hundred children. Though some aspects of ASD have been well characterised, there remains much about the causes, developmental trajectory over time, variation in presentation from one person to another, between genders and over the lifespan and effective intervention and treatment that are yet to be fully elucidated. Adding to the complexity of diagnosis and intervention is the common co-occurrence of other conditions, such as cognitive impairment, which may have more impact on development and achievements than ASD itself. Presentations and trajectories of neurodevelopmental disorders in the very early childhood years can be difficult to accurately characterise. The nature of the intervention best suited for the child s needs are not consistently informed by diagnosis alone, but by a range of factors including family and cultural issues, general development and additional health concerns. These factors have resulted in a rigid categorical approach to diagnosis of ASD being less than helpful in some cases, and a growing preference towards a more extensive diagnostic formulation that captures a range of salient issues. It also implies that exclusion of an ASD diagnosis at one point in time may need to be revisited if concerns remain or increase. This must be clearly articulated in the draft guidelines. We strongly support a diagnostic formulation that focuses on developmental and functional skills and ensures that appropriate support and intervention are provided to the person, and their family, irrespective of the specific diagnosis. This approach is not clearly apparent in the draft guidelines. Whilst the diagnosis of ASD can provide useful information about the types of interventions and likely causes of difficulties that may be helpful for the person, a precise categorical diagnostic approach for ASD may not be feasible or necessary for a particular individual. Paediatricians play important roles in diagnosis of ASD Paediatricians play an important role in the diagnosis and treatment of a range of neurodevelopmental conditions, including ASD, and further consultation with paediatricians is necessary to satisfactorily complete these draft guidelines, and ensure that they are likely to be adopted. A recent study of Australian paediatric practice demonstrated that 60 per cent of new consultations were for developmental behavioural conditions, with 56 per cent reporting diagnoses of ASD in first consultations. Given their high level of engagement with diagnosis of ASD, paediatricians can continue to contribute effectively to the development of these draft guidelines, especially in aspects that speak to training requirements and standards and to the availability of services in challenging environments (eg. regional and rural areas). We contend that some of the current recommendations are unlikely to be workable or in the best interests of the child and family. Concerns relating to individual sections of the draft guideline ASD Assessment Guiding Principles Guiding principles are an important opportunity to outline how this draft guideline will enhance the current diagnostic process. ASD specific diagnostic processes ought to be included in existing services, especially in those for detecting and diagnosing developmental delay/disability, rather than representing a separate diagnostic stream. We recognise that resource enhancement may be required. Irrespective of the outcome of an ASD diagnostic assessment, the goal is to provide assistance to the person and their family in relation to their concerns. Therefore, a lifespan perspective should be a key element of the diagnostic process, given the long term implications of a diagnosis of ASD. Autism Spectrum Disorder Draft National Guidelines RACP Submission 3
Other specific changes that could improve this section include: Greater acknowledgement of existing early childhood development surveillance programs and primary health care services. These services provide vitally important mechanisms for developmental concerns to be raised, detected and then linkages with diagnostic and intervention services to be made; Despite and exhaustive clinical assessment, the diagnostic process may still not achieve a reliable diagnosis. Clinical observation, potentially involving repeated assessments, over time, may be a valuable mechanism for determining whether the person has ASD. Alternatively, reliably characterising the range of strengths and difficulties across developmental domains, including social/emotional domain and behaviour, may be a pragmatic interim approach to facilitate intervention and treatment. The draft guidelines should address these issues; Removing the term consumer. Although it is commonly used in health services, it implies a commercial relationship between the service provider and the person to whom care and services are provided. We believe that the relationship between a health professional and person with ASD and their family goes further than this, and recommend that another term is substituted; An adjustment to the use of the term identity first (i.e. autistic people), as it is at odds with the preference of parents and professionals in the disability and childhood sector, where great efforts are made to acknowledge the personhood first and foremost; and Adjusting the approach to strengths and resilience factors, which warrants expansion to more fully capture aspects within the child, family and community that can enhance developmental outcomes, wellbeing and community participation. These factors can be important strengths that build resilience for the person and their family. ASD Assessment Roles We believe that the diagnosis of ASD should be made by an appropriately trained medical practitioner, such as a paediatrician, psychiatrist or a neurologist. This reflects current practice and key international guidelines such as UK National Institute for Health and Care Excellence (NICE) Guidelines for ASD diagnosis. We recognise the importance of multidisciplinary teams that include speech pathologists and clinical/educational psychologists among others, in the diagnosis of ASD. However key elements of establishing an ASD diagnosis can only be delivered by a suitably trained medical practitioner. These include integration of clinical signs and symptoms, careful consideration of alternative possible diagnoses and detection of important contributing health conditions. The case to expand the role of diagnosis of ASD beyond these groups has not been established in the draft guidelines. Involving general practitioners (GP) in the diagnostic referral process maintains their engagement in the health and wellbeing of the child and family and enables other important issues to be addressed. Continuing professional and resource development supports the responsiveness and value of these referral systems for the person with a potential ASD diagnosis and for their family. We fully support involvement of other professionals such as speech pathologists and occupational therapists in the diagnosis of ASD through providing assessment and recommendations in specific areas of development/abilities. Other specific changes that could improve this section include: Recognise that coordination and continuity of care is important, and is primarily a clinical role rather than administrative. Funding should be identified for this important role; Replace terms such as functional and support needs assessor and professional informant that are introduced in the draft guidelines. They are without precedent in child development practice, and as such risk significant confusion in the sector and for families. An alternative would be the use of less specific terms such as clinician who assesses ; Avoid requiring an additional four years of ASD specific training, which is unworkable and would preclude most paediatricians from involvement in the diagnosis of ASD. Paediatricians are already extensively trained in a range of relevant childhood and neurodevelopmental conditions as well as the integration of a range of clinically relevant information and diagnoses; Autism Spectrum Disorder Draft National Guidelines RACP Submission 4
Reviewing those professions approved to diagnose ASD. Internationally, occupational therapists and speech pathologists are not considered qualified to make definitive diagnosis of ASD and the case for doing so in Australia has not been established. Their inclusion may lead to further diagnostic variability and a potentially increased rate of ASD diagnosis. The evidence table demonstrates the importance of occupational therapists and speech pathologists to the diagnostic process, but does not establish the case that their training and expertise equips them for the primary role of ASD diagnosis; Review the Consensus Based Recommendation (CBR) rating for the different medical professions listed (neurologists, psychiatrists and paediatricians). The ratings are potentially inadequate, as there is great variability within these groups regarding their expertise in diagnosing ASD. It is reasonable to say that within these professions where the specialist does not have the expertise required for ASD diagnosis they ought to refer to another specialist who can. This is in line with the best-practice approach for a range of health conditions; Adjust listed age ranges in recognition that paediatricians and adolescent medicine physicians can treat/manage young people up to 25 years, beyond the 17 years noted in the draft Guideline (Table 3); Noting that rather than all individuals having to have all the expertise specified in S 6.5.2, this expertise needs to be present in the team; Review training requirements for registered psychologists. Psychologists on diagnostic teams may not have areas of practice endorsements and yet have been providing an excellent service within multidisciplinary teams. To remove these psychologists from the diagnostician list (where 2 diagnosticians are required for Tier 2) may exacerbate waiting times in existing diagnostic services. Guidance from relevant psychology colleges should be sought in relation to these professional standards and practice issues; Review the role of informants. They should not be required to have ASD specific expertise, yet can offer valuable insights into a child s function. Suggesting that they must have a 4 year university degree and specific ASD expertise is unhelpful; Ensure the guidelines are not overly prescriptive in relation to which endorsements should be considered appropriate to address specific areas of concern. In particular, the omission of clinical neuropsychology in evaluating a neurodevelopmental disorder is potentially problematic; and Conducting further consultation with professional colleges on the importance of ASD specific expertise and determining appropriate additional training requirements. ASD Assessment settings Changes that should be considered in this section include: Removing the requirement that a waiting area forms part of a clinic space. While all contact with a person suspect of having ASD provides insight into their reactions to different environments and other people, this is overly prescriptive; and Reviewing the use of telehealth for diagnosis of ASD. Telehealth may provide a useful adjunct to face to face consultation. Quality of service should not be compromised for children who live away from tertiary centres, but this medium provides an opportunity to address inequity in services due to rurality. Telehealth has a role to play to supplement other models of care, but should not be relied upon as the sole medium by which to make a diagnosis. Initiating an ASD assessment As above, it is important that referral to a diagnostician come from a patient s primary health care professional. We acknowledge that screening for ASD behaviours as part of primary child health care is recommended in some jurisdictions (American Academy of Pediatrics for example) Within Australia, screening tools are part of developmental surveillance programs, and these programs specifically articulate what to do if concerns are raised. Currently, ASD screening tools are not used consistently in Australia and their role has not yet been established. Screening has the potential to do harm as well as good, and careful consideration of any screening programme would need to be undertaken before widespread recommendations could be made. Other changes that should be considered in this section include: Recognising that evaluation of general developmental/cognitive/adaptive abilities must occur prior to establishing a diagnosis of ASD. This may involve formal developmental assessment and is in line with DSM 5 requirements to consider alternative diagnoses that better explain the presenting concerns; Autism Spectrum Disorder Draft National Guidelines RACP Submission 5
Removing the Denver screen as it has poor validity; Reviewing the statement that hearing loss must be ruled out. We agree that hearing must be considered prior to diagnosing ASD, and suggest that testing for Auditory Processing disorders(apd) are part of this assessment, but recognise that hearing loss/apd and ASD can occur together; Clarifying who is intended to use Table 5 (page 30); and The inclusion of a statement that referrals for ASD assessment where ASD is unlikely to be the primary cause of a child s difficulties can place pressure on the ability of health services to provide access to interventions for children who do have ASD, and can contribute to patient anxiety. Diagnostic Evaluation We recognise that establishing a diagnosis of ASD can provide valuable information to assist with intervention and answer important questions other professionals, the person or their family may have. Timely access to diagnosis and intervention is important. This may involve an individual experienced clinician, such as paediatrician or child psychiatrist, establishing a diagnosis and delivering initial case coordination, or a multidisciplinary team if the presentation or comorbidities are complex. We support a comprehensive diagnostic formulation that captures development/cognitive/adaptive abilities, specific diagnoses, additional health conditions and contributing conditions. Underlying issues such as genetic health issues, relevant social, family and community issues and strengths and weaknesses should also be included. Further consultation is needed on how these tiered assessments are intended to work. We are concerned that Tier 2 assessments have too many specifications. Not all children referred to Tier 2 require specific ASD assessment via tools such as and Autism Diagnostic Observation Schedule (ADOS), or need direct observations outside of the clinic. Reports from informants may provide sufficient information. The decision to conduct a specific assessment must be a clinical decision. Other changes that should be considered in this section include: A clear definition of Tier 1 and Tier 2 should appear alongside their first mention in the Guideline; Changing specific editions of diagnostic criteria (eg. DSM 5 and ICD-10) to the current edition of relevant diagnostic criteria and acknowledge that as new editions are developed, clinical practice may change in response to emerging approaches. This improves the longevity of Guidelines and ensures that reestablishing the diagnosis is not required on release of a new edition; Noting that Tier 1 diagnostic evaluation can be undertaken by paediatricians or child psychiatrists; Making reference to the need for medical evaluation, including physical health assessment, which must be conducted as part of the diagnostic process by a medical specialist who understands the context, what is being looked for and what is relevant; Removing the requirement that a Tier 2 assessment must include ADOS and replacing it with a statement that an ASD specific tool may be used as part of Tier 2 assessment. Reviewing the evidence around the value of diagnostic tools. The choice to use a diagnostic tool must be undertaken by the involved clinician. Additionally, the guidelines should recommend present evidence around a range of relevant tools to assist decision by clinicians and include the developmental behavioural checklist (DBC), an Australian tool that has been shown to have value in the diagnosis of ASD; Moving intellectual disability from medical history to developmental history (section 9.4.3); Noting that the listings of potential coexisting conditions in sections 8/9 are incomplete and easily misunderstood. Identifying these conditions relies on the training and judgement of experienced clinicians; Reviewing Table 7 for its utility and completeness, and clarifying its role. It is important that this is not implemented in a prescriptive way. For example, speech pathologists are listed next to hearing problems, but not other professionals trained to identify these concerns. Paediatricians and GPs should be expected to conduct an oral health check as part of their clinical work; Clarifying some elements of this guideline in relation to DSM 5. For example, Diagnostic algorithm Table 5 implies a rigid approach to diagnosis at Tier 1 or referral to Tier 2 based on the number of symptom categories. DSM 5 does not require a prescribed number of criteria to be met; Noting that speech and language assessment should occur for all children diagnosed with ASD; and Recommending discourage use of level of ASD arising from DSM 5 to describe degree of support needs. Functional and support needs assessment Autism Spectrum Disorder Draft National Guidelines RACP Submission 6
Assessing functional and support needs is a valuable component of the diagnostic process that can inform intervention, future development and learning. Consideration of these skills must occur prior to establishing a diagnosis of ASD, even if formal assessment occurs when the child is older. Functional and support needs are likely to change through the lifespan, so we recommend specifying that this assessment may need repeating when appropriate. A specific recommendation that developmental/cognitive assessments must be made should be included. These are important and valuable tools that provide valuable information on adaptive/functional/cognitive /developmental skills and may also facilitate demonstration of behaviours characteristic of ASD. Other changes that should be considered in this section include: The emphasis on ICF Core sets for ASD is premature as they have not yet been released, nor tested for feasibility, acceptability and value in Australia. They may prove to be helpful and acceptable in due course; Qualifying the categories listed under functional assessment tool according to the age of the person being assessed as the functional and support needs section is not tailored for young children where a substantial proportion of diagnoses will be made. Noting that reporting of the results of an adaptive behaviour tool must be consistent with professional guidelines and practice. Reporting of specific scores is discouraged, unless the audience understands the limitations of specific scores; and Re-examining the PEDICAT and Character Strength tools, as they have substantial limitations and should not be supported in this context. Sharing ASD assessment findings It is important that outcomes from the diagnostic process should be communicated with relevant stakeholders including the person, family, referrer and other professionals. This section should outline the need to obtain consent from the consumer or their family to share assessment findings with other clinicians and health services. Importantly, some children will have the right to have a say in how their information is shared, depending on a number of factors that inform their competence. Table 11 incorrectly implies that children 16 years and under do not have a role in determining how their information is shared. The Gillick principles (or similar) should be used to determine the competence of a child to have input in to (or make) these decisions. Other changes that should be considered in this section include: Discouraging the use of the telephone in reporting assessments; Clarifying why a 3 month period for provision of report is supported as the professional standards require a shorter timeframe; Revisit the appropriateness of defining the style of reports in this draft guideline (eg, technical/plain English). Both may be appropriate, depending on the circumstances and professional practices; Noting that reporting should also include language and cognitive/functional levels and associated medical conditions; and It is inappropriate to require a declaration by the professional to declare that the ASD diagnosis was conducted according to these draft guidelines. Important considerations We are fully supportive of the intent in the sentence all professionals involved in an ASD assessment with an individual from a different racial or ethnic background, including Aboriginal peoples, should first obtain a good understanding about the cultural factors relevant to the individual and their caregivers that may guide or influence the ASD assessment process (section 12.4). We would suggest the changes outlined in the paragraph below: All professionals involved in an ASD assessment with an individual from a cultural background other than their own should obtain a good understanding of the cultural factors relevant to the individual and their caregivers that may guide or influence the ASD assessment process. These considerations also influence the approach taken to intervention and therapy. Autism Spectrum Disorder Draft National Guidelines RACP Submission 7
Other changes that should be considered in this section include: Noting that in section 12.1 (see pages 63-64) the document states that consent / confidentiality from the age of 18 years. This is not in keeping with practice where consent (with assessment of capacity to) and confidentiality are important even before the age of 18 years. Noting that there is now robust empirical evidence that ASD can be reliably and validly diagnosed at 2 years of age by an experienced clinician refers to ASD that is relatively severe or where the child also has significant developmental delay. Milder cases may not become apparent until later. Given that ASD is a spectrum that involves all levels of severity, many children will not be diagnosed before they are 3 years old; Changing the last line of the first paragraph on page 64 which mentions autistic children with ASD; and Including further information on behaviour and emotion. Challenging behaviour is in important predictor of outcomes and this must be considered as part of diagnostic formulation. Given the high prevalence of intellectual disability (ID) in people with ASD, it is imperative that the Guidelines include the recommendation that ID be considered for people diagnosed with ASD specifically where there are cognitive concerns. Autism Spectrum Disorder Draft National Guidelines RACP Submission 8