We found consensus agreement among participants on the diagnostic criteria for FAS. Diagnostic criteria for FAS are the most well-established22
and all published guidelines2
include similar and necessary elements: characteristic facial dysmorphology, growth impairment and CNS abnormality. However, there are important differences between guidelines. Participants indicated a clear preference for all main components of the case-defined UW criteria, including a substantially greater level of agreement with the UW criteria for CNS abnormality than with the IOM criteria.
The endorsed UW definition of CNS abnormalities includes either structural/neurological criteria or functional criteria that are each alone sufficient to define CNS abnormality. This may allow an FAS diagnosis to be made earlier than with use of the Canadian guidelines which, in the absence of structural CNS defects, require deficit in at least three domains of function and thus have greater dependence on neurobehavioural assessments whose use may be limited by age.2
The requirement for evidence of structural/neurological or substantial functional abnormality is common to both the UW and CDC guidelines.9
However, the use of the third percentile criterion for cranial size and functional performance indicators distinguishes the UW and CDC criteria, and results in a more conservative UW definition of abnormality.
We found no significant difference in agreement between the IOM and Canadian criteria for the diagnosis of PFAS, ARND or criteria for CNS abnormality. Both statements describing the IOM and Canadian diagnostic criteria for PFAS reached consensus agreement despite considerable differences between the criteria, including that, unlike the IOM criteria, the Canadian criteria require CNS dysfunction to be formally established.2
Lack of consensus agreement with either the Canadian or IOM diagnostic criteria for FASD other than FAS is consistent with more limited evidence on the aetiological role of alcohol for these diagnoses,4
variation in the definition of these conditions among diagnostic guidelines, limited information on the validity and comparative performance of different diagnostic methods, and exclusion of the diagnostic category ARBD from three of the four most recently published diagnostic guidelines.2
The lack of a clear preference for either the Canadian or IOM diagnostic criteria for PFAS and ARND may also be linked to the limited use and visibility of diagnostic categories other than FAS in Australia.6
This could both result from, and reinforce, uncertainty about the validity of these diagnostic categories. Although the Canadian and UW diagnostic criteria share many similarities, there are some differences between these approaches. Further exploration of agreement with the UW diagnostic criteria for PFAS and ARND is needed to distinguish a lack of support for the diagnostic category of ARND and a lack of clear preference for diagnostic criteria for PFAS from the specific and limited diagnostic criteria evaluated in this survey. However, our finding of substantially greater agreement with the UW definition of components of the diagnostic criteria for FAS suggests that there is strongest support for the UW approach to defining abnormalities, which also form the basis of the UW diagnostic criteria for PFAS and ARND (static encephalopathy alcohol exposed and neurobehavioural disorder-alcohol exposed).
Consistent with more recent guidelines for the diagnosis of FASD,2
a multidisciplinary approach to diagnosis was supported, particularly among health professionals other than paediatricians. The observed difference in agreement among paediatricians and other health professionals may reflect the difficulty in accessing multidisciplinary assessment services outside major metropolitan centres. Although participants were more likely to agree that general practitioners in rural or remote settings could confirm a diagnosis of FASD compared with all general practitioners, there was only limited support for general practitioners assuming a key role in diagnosis. Comments from some participants indicated that the lack of support for the role of general practitioners in diagnosis may be associated with the perceived need for specific expertise in FASD diagnosis, a lack of time to complete the diagnostic process in general practice, and the perceived need for a specialist multidisciplinary diagnostic team. Participants indicated most agreement with service provision strategies that help to build local diagnostic and intervention capacity. A similar strategy is advocated in the Canadian guidelines to address service provision in remote communities by establishing regionally based diagnostic teams.2
Limitations of this study include its exploratory design, the inability of the survey to represent published diagnostic criteria within their full context, and the failure to assess agreement with all published diagnostic criteria for PFAS and ARND. Despite recruiting 139 individuals known to have experience or expertise in screening or diagnosis of FASD and a high response (74.1%), only 74 participants answered one or more of the 27 questions on diagnostic criteria, and only 36 answered 22 or more questions. However, due to the recruitment of panel members based on experience or expertise on screening or diagnosis and the examination of both screening and diagnosis in the questionnaire, we did not anticipate that all panel members would respond to the statements on diagnostic criteria. We found that completeness of response to the statements on diagnostic criteria was related to training and experience in FASD diagnosis, and likely reflects the limited familiarity with diagnostic guidelines among Australian health professionals,13
and the limited diagnostic capacity for FASD in Australia.
In conclusion, we found consensus agreement on the UW criteria for the diagnosis of FAS, and few important differences between the perceptions of paediatricians and other health professionals. Our findings indicate strong support for the UW approach to defining abnormalities which fulfils key best practice criteria,24
and these data provide valuable consensus-based evidence for guideline development that should be incorporated in formal guideline development processes for FASD diagnosis in Australia. The development of standard-national guidelines for diagnosis can facilitate improved awareness of diagnostic criteria, the use of consistent diagnostic processes, and enable evaluation of the effectiveness of the prevention, detection and treatment of these disorders in Australia.