Proposal of new clinical diagnostic criteria for fatal familial insomnia

Background Early and accurate diagnosis of fatal familial insomnia (FFI) is critical for effective screening; however, this rare disease remains difficult to recognize. This work aimed propose a new diagnostic criterion with optimal sensitivity, specificity, likelihood ratio. Methods An international group experts was established 128 genetically confirmed FFI cases 281 non-FFI prion controls are enrolled in the validation process. The criteria were proposed based on following steps 2-round expert consultation: 1) Validation 2018 criteria. 2) Diagnostic item selection according statistical analysis consensus. 3) Results possible had sensitivity 90.6%, specificity 83.3%, positive ratio (PLR) 5.43, negative (NLR) 0.11; probable 83.6%, 92.9%, PLR 11.77, NLR 0.18. included more specific and/or common clinical features, 2 exclusion items, summarized precise flexible hierarchy. 92.2%, 96.1%, 23.64, 0.08, while 98.2%, 50.33, 0.095. Conclusion A FFI, which will be practical at clinic early recognition differentiation from other diseases then help further referral genetic test.