Proposal of new clinical diagnostic criteria for fatal familial insomnia
Abstract 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 to propose a new diagnostic criterion for fatal familial insomnia (FFI) with optimal sensitivity, specificity, and likelihood ratio. Methods An international group of experts was established and 128 genetically confirmed FFI cases and 281 non‐FFI prion disease controls are enrolled in the validation process. The new criteria were proposed based on the following steps with 2‐round expert consultation: 1) Validation of the 2018 FFI criteria. 2) Diagnostic item selection according to statistical analysis and expert consensus. 3) Validation of the new criteria. Results The 2018 criteria for possible FFI had a sensitivity of 90.6%, specificity of 83.3%, the positive likelihood ratio (PLR) of 5.43, and negative likelihood ratio (NLR) of 0.11; the probable FFI criteria had a sensitivity of 83.6%, specificity of 92.9%, the PLR of 11.77, and NLR of 0.18. The new criteria included more specific and/or common clinical features, 2 exclusion items, and summarized a precise and flexible diagnostic hierarchy. The new criteria for possible FFI had a sensitivity of 92.2%, specificity of 96.1%, a PLR of 23.64, and NLR of 0.08, while the probable FFI criteria had a sensitivity of 90.6%, specificity of 98.2%, the PLR of 50.33, and NLR of 0.095. Conclusion A new clinical diagnostic criteria was proposed for FFI, which will be practical at the clinic for early recognition of FFI and differentiation from other prion diseases then help further referral and genetic test..
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2023 |
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| Erschienen: |
2023 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:19 |
|---|---|
| Enthalten in: |
Alzheimer's & Dementia - 19(2023) |
| Beteiligte Personen: |
Chu, Min [VerfasserIn] |
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| Anmerkungen: |
© 2023 the Alzheimer's Association. |
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| Umfang: |
1 |
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| doi: |
10.1002/alz.062038 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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WLY014959879 |
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| 520 | |a Abstract 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 to propose a new diagnostic criterion for fatal familial insomnia (FFI) with optimal sensitivity, specificity, and likelihood ratio. Methods An international group of experts was established and 128 genetically confirmed FFI cases and 281 non‐FFI prion disease controls are enrolled in the validation process. The new criteria were proposed based on the following steps with 2‐round expert consultation: 1) Validation of the 2018 FFI criteria. 2) Diagnostic item selection according to statistical analysis and expert consensus. 3) Validation of the new criteria. Results The 2018 criteria for possible FFI had a sensitivity of 90.6%, specificity of 83.3%, the positive likelihood ratio (PLR) of 5.43, and negative likelihood ratio (NLR) of 0.11; the probable FFI criteria had a sensitivity of 83.6%, specificity of 92.9%, the PLR of 11.77, and NLR of 0.18. The new criteria included more specific and/or common clinical features, 2 exclusion items, and summarized a precise and flexible diagnostic hierarchy. The new criteria for possible FFI had a sensitivity of 92.2%, specificity of 96.1%, a PLR of 23.64, and NLR of 0.08, while the probable FFI criteria had a sensitivity of 90.6%, specificity of 98.2%, the PLR of 50.33, and NLR of 0.095. Conclusion A new clinical diagnostic criteria was proposed for FFI, which will be practical at the clinic for early recognition of FFI and differentiation from other prion diseases then help further referral and genetic test. | ||
| 700 | 1 | |a Xie, Kexin |4 aut | |
| 700 | 1 | |a Chen, Zhongyun |4 aut | |
| 700 | 1 | |a Zhang, Jing |4 aut | |
| 700 | 1 | |a Ghorayeb, Imad |4 aut | |
| 700 | 1 | |a Rupprecht, Sven |4 aut | |
| 700 | 1 | |a Reder, Anthony T |4 aut | |
| 700 | 1 | |a Garay, Arturo |4 aut | |
| 700 | 1 | |a Honda, Hiroyuki |4 aut | |
| 700 | 1 | |a Nagayama, Masao |4 aut | |
| 700 | 1 | |a Shi, Qi |4 aut | |
| 700 | 1 | |a Zhan, Shuqin |4 aut | |
| 700 | 1 | |a Nan, Haitian |4 aut | |
| 700 | 1 | |a Zhang, Jiatang |4 aut | |
| 700 | 1 | |a Guan, Hongzhi |4 aut | |
| 700 | 1 | |a Cui, Li |4 aut | |
| 700 | 1 | |a Guo, Yanjun |4 aut | |
| 700 | 1 | |a Wang, Jiawei |4 aut | |
| 700 | 1 | |a Dong, Xiaoping |4 aut | |
| 700 | 1 | |a Rosa‐Neto, Pedro |4 aut | |
| 700 | 1 | |a Gauthier, Serge |4 aut | |
| 700 | 1 | |a Wu, Liyong |4 aut | |
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