How to calculate the Diagnostic Score
Step 1. Download the Clinical Chart (Appendix 1)
Step 2. Fill in the Clinical Chart, possibly while you are visiting the child.
Ask directly to the parents the presence and the frequency of each clinical manifestation associated with the fever attacks.
It will takes no more than 5-10 minutes.
Step 3. Insert the correct answer for each requested item
Step 4. Now you can calculate the score. Three different results will appear: 1) the score, 2) the probability to be positive,
3) the predicted group (low or high risk)
A diagnostic Flow-chart for children with suspected monogenic Periodic Fever
The Diagnostic score and the diagnostic flow chart (see the Figure) are aimed to provide an evidence-based tool to
General Pediatricians that usually observe for the first time children with periodic fevers. Its aim is to timely select those patients
at higher risk to carry mutations of known genes. These patients should be promptly referred to Specialized centers
that will provide the molecular analysis and the proper clinical expertise.
Based on our study we propose the following diagnostic flow-chart:
Click on the image to enlarge
Please note that the Diagnostic score was established and validated on a pediatric population, with a mean age at disease onset of 4.3 years.
Thus, the accuracy of the Score in patients with a disease onset after the first decade has not been evaluated.
In our study the cut-off of 1.32 for the score (or 15% probability to be positive) display the best accuracy either in the Training
(sensitivity = 95%, specificity = 82%) and in the Validation (sensitivity = 87%, specificity = 72%) groups of patients.
In order to achieve an higher sensitivity, you can choose to consider a lower cut-off (i.e. 10% of probability to be positive).
Of course you will increase the probability to have an higher number of negative genetic tests.