Niemann-Pick type C Suspicion Index tool: analyses by age and association of manifestations

Objective The Suspicion Index (SI) screening tool was developed to identify patients suspected of having Niemann-Pick disease type C (NP-C). The SI provides a risk prediction score (RPS) based on NP-C manifestations within and across domains (visceral, neurological, and psychiatric). The aim of these subanalyses was to further examine the discriminatory power of the SI by age and manifestation–associations by NP-C suspicion-level and leading manifestations. Methods The original retrospectively collected data were split into three patient age groups, where NP-C-positive cases were >16 years ( n = 30), 4–16 years ( n = 18), and 16 years) and 0.981 (4–16 years) but weaker 0.562 for infants (4 years but is not as useful for infants