Patients with a suspicion of NP-C should undergo a thorough and specific examination, including visceral, neurological and psychiatric assessments before being tested with laboratory analyses.
NP-C Suspicion index (NPC-SI):
The NP-C Suspicion Index is a simple-to-use tool that has been developed by a scientific commlittee to support physicians not familiar with the disease, in detecting NP-C among patients suspected as having the disease.
This index comprises ranked assessments of visceral, neurological and psychiatric signs and symptoms that are indicative to NP-C taking family history into account, to provide a risk prediction score for NP-C.
This score indicates whether a patient has a low probability of having NP-C or should be referred to a specialist centre for further evaluation. In children below 4 years of age, due to a low sensitivity , a prediction score below 70 may be not conclusive in this patient group.
A dedicated web site www.NPC-SI.com is available to support physicians to automatically calculate the individual NP-C risk prediction score of their patients.
Moreover, the web site allows physicians to better understand the symptoms of the disease and how to detect specific abnormalities relating to NP-C.
Several patient videos focussing on specific disease symptoms such as Vertical gaze plasy, are available for this purpose.