Background: Although it is critical to consider downstream consequences of changing disease definitions and to avoid the perils of overdiagnosis, disease definitions and diagnostic criteria are sometimes required to be developed, modified, or updated. In 2021, a group in Australia was tasked with updating the guideline for the diagnosis and assessment of Fetal Alcohol Spectrum Disorder. However, there is currently no universally agreed approach to developing diagnostic criteria or assessment guidelines.
Objectives: Our aim was to ensure that any new criteria or definitions proposed by our guideline group were as transparent as possible and supported by a rigorous development process. In line with best practice in guideline development, we aimed to use GRADE to assist with our guideline. However, there was no specific GRADE guidance currently for this type of guideline.
Methods: We used a novel application of the GRADE approach to inform the development of our guideline. Firstly, to determine potential diagnostic criteria for FASD, we performed a range of systematic reviews using the GRADE for establishing certainty in prognostic factors to determine the association between particular exposures and outcomes with FASD. We then used adapted evidence to decision frameworks (EtDF) to make a recommendation regarding whether a particular diagnostic criteria should be considered in our final set of criteria. Following this, we created an overarching EtDF for our proposed diagnostic criteria for FASD. Results and Conclusion: Our proposed revised definition, criteria, and assessment guidelines for FASD are informed by rigorous systematic reviews and a transparent decision-making process. We believe these methods may be suitable for adoption or adaptation for other groups creating diagnostic criteria and revising disease definitions.
Patient, public and/or healthcare consumer involvement: Extensive engagement with people with FASD and their caregivers occurred during this project.