Participants were most familiar with, most frequently used, and most frequently supported the adoption of the UW and Canadian guidelines in Australia. However, no single existing guideline received a high level of agreement about its adoption for use in Australia, and participants were most likely to indicate that they were unsure about whether existing guidelines should be adopted. Although participants in our study were recruited based on their expertise with or involvement in the screening and diagnosis of FASD, only 43.5% of participants had used diagnostic guidelines for FASD, and there was general uncertainty about the suitability of existing guidelines for use in Australia. Our findings are consistent with the limited knowledge about FAS among health professionals [18
], perceptions that it is more difficult to diagnose FAS among Indigenous Australians [18
], the lack of national recommendations on diagnosis in Australia, and the limited availability of information on the comparative performance of existing diagnostic guidelines to inform clinical decision making.
When evaluating the suitability of existing diagnostic guidelines for use in Australia, participants recognised a need for guidelines that are evidence based, relevant to the local clinical context, easy to use, and accompanied by appropriate training and on-going support. Research to address these needs and establish evidence to support the national adoption of standard diagnostic methods is required to improve the diagnostic capacity for FASD in Australia. The importance of establishing an evidence base for diagnostic and management practices is further reinforced by research which indicates that FAS may not be diagnosed if service providers do not believe that it will make a difference to the individual [25
The perceived limitations of existing diagnostic guidelines that were identified by participants in this study correspond with limitations identified in the literature, and many represent current challenges to the effective diagnosis of individuals with FASD [1
]. Although the UW guidelines were recognised as having been developed based on empirical data, they were not always considered practical for the clinical setting. In contrast, the Canadian guidelines, which integrate elements of the UW and IOM approaches to diagnosis, and were developed based on published literature, expert opinion and best practices [7
], were not always considered evidence based.
As acknowledged in the Canadian guidelines, a lack of evidence in key areas, including growth reference standards for all cultural groups, and of screening tools specific and sensitive to prenatal alcohol exposure, limits the effectiveness of the current diagnostic process [7
]. Canadian palpebral fissure length growth charts [26
], which have recently been found to be applicable to children in the United States [27
], are likely to be suitable for use in Australia; however, their appropriateness requires formal evaluation. Australian standards for Indigenous Australians also need to be developed. The lack of evidence can also be problematic where limitations of current diagnostic methods, such as the absence of identified biological markers of alcohol exposure during pregnancy, preclude the diagnosis of neurodevelopmental disorders where there is no confirmed evidence of prenatal alcohol exposure, despite information suggesting that alcohol exposure is likely. Diagnostic methods for FASD will be facilitated by improvements in medical technology and increased understanding of the disorders [16
The UW and Canadian guidelines are similar, with both covering a spectrum of diagnostic outcomes, excluding the diagnostic category of alcohol-related birth defects, and including almost identical diagnostic criteria [16
]. As highlighted by participants, these two guidelines also have important differences, including the diagnostic terminology used and the definition of central nervous system abnormalities. The terminology used in the UW guidelines was both perceived as being too complex, and preferred for eliminating the implication that alcohol is the primary causative factor for these disorders. The criteria for central nervous system abnormality included in the Canadian guidelines were also perceived as restrictive due to their reliance on testing for central nervous system dysfunction, which may not be possible in young children and therefore may decrease the likelihood of early diagnosis.
Perceptions of the strengths and limitations of diagnostic guidelines may conflict, and are likely to reflect: i) variation in the nature of the guidelines examined, including their evidence base and method of development; and ii) variation in individual characteristics, beliefs, experience and knowledge, including the context of experience, and extent of familiarity with diagnostic guidelines for FASD. In this study the perceived limitations of existing guidelines were evaluated in the context of their use in Australia, and our findings may not reflect their perceived limitations in other contexts. The ability of participants to make more general comparative evaluations among guidelines was also constrained by the small proportion of participants who were familiar with more than one guideline. As a result, perceived limitations reported for one guideline may also apply to other guidelines.
Despite the range of factors that influence individual perceptions of guidelines and the inability of many participants to evaluate multiple guidelines, an understanding of perceptions about existing guidelines enables consideration of factors influencing the utility and adoption of existing guidelines in Australia. Reported issues and identified needs may be addressed through guideline design and implementation, training, research, and health policy. Although the reported limitations provide valuable information, not all can be addressed in the short term. Some perceptions highlight current challenges to diagnosis irrespective of the guideline used, and reinforce appreciation of the need for improved technologies for diagnosis. Other perceptions highlight policy issues relevant to FASD diagnosis in Australia that need to be addressed. These include the lack of sufficient resources to enable access to interdisciplinary diagnostic assessment in Australia despite clear consensus in the literature on the need for interdisciplinary team assessment for FASD diagnosis [4
], the need for a standard national approach to diagnosis, and the lack of evidence base to support accurate and appropriate diagnosis, surveillance and management in the Australian context.
The validity of our findings is supported by the evidence of association found between individual characteristics and familiarity with and use of existing diagnostic guidelines. Health professionals who had not completed specific training in diagnosis had poorer knowledge of diagnostic guidelines for FASD. This finding is consistent with previous work indicating that many paediatricians identified their need for educational materials on diagnosis [24
]. Participants who reported experience in diagnosis and completion of specific training in FASD diagnosis were also more likely to report having used the UW guidelines, consistent with both the prominent use of the UW guidelines internationally [12
] and the accessibility of comprehensive online training in the UW diagnostic methods [28
], which we found to be a factor influencing the use of a specific guideline. These findings also highlight areas where policy and education could strengthen diagnostic capacity for FASD.
This survey was conducted within a larger study of health professionals’ perceptions of FASD diagnosis in Australia, and the length of the questionnaire may have discouraged participation among some individuals. We purposively sampled participants to identify health professionals who had expertise in or experience with the screening or diagnosis of FASD and could provide information relevant to the adoption of national diagnostic guidelines. As such, our findings are not generalisable to all health professionals in Australia. A small sample of international participants with recognised expertise in FASD was also recruited, and the differences demonstrated in responses between Australian and international participants reflect both the nature of the sampling process and the lack of progress on the implementation of standard diagnostic guidelines for FASD in Australia.
Despite the targeted recruitment of health professionals in this study, our findings were limited by the small number of participants who had used existing diagnostic guidelines and could evaluate their suitability in the Australian context. Participant perceptions of the limitations of existing systems may also vary based on a range of factors, including the clinical context in which the guidelines are used. Nevertheless, the participating health professionals indicated support for a national guideline, provided valuable information about the suitability of existing guidelines for the Australian context, and identified factors which may influence adoption and help ensure the appropriateness of national recommendations for diagnosis. This survey was conducted to enable evidence from a national consultation and consensus development process with health professionals to be considered in the design of an Australian diagnostic instrument for FASD. The national approach to development will utilise findings from this survey, findings from the broader consultation process, and evidence from the published literature.