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A Suspicion Index to aid screening of early-onset Niemann-Pick disease Type C (NP-C)

Publikace na 1. lékařská fakulta |
2016

Tento text není v aktuálním jazyce dostupný. Zobrazuje se verze "en".Abstrakt

Background: Niemann-Pick disease Type C (NP-C) is difficult to diagnose due to heterogeneous and nonspecific clinical presentation. The NP-C Suspicion Index (SI) was developed to identify patients with a high likelihood of NP-C; however, it was less reliable in patients aged < 4 years.

Methods: An early-onset NP-C SI was constructed following retrospective chart review of symptom presentation in 200 patients from nine centres comprised of 106 NP-C cases, 31 non-cases and 63 controls. Statistical analyses defined strength of association between symptoms and a diagnosis of NP-C and assigned risk prediction scores to each symptom.

Results: Visceral symptoms were amongst the strongest predictors. Except for gelastic cataplexy and vertical supranuclear gaze palsy, central nervous system symptoms were not discriminatory in this population.

Performance of the early-onset NP-C SI was superior versus the original NP-C SI in patients aged <= 4 years. Conclusions: The early-onset NP-C SI can help physicians, especially those with limited knowledge of NP-C, to identify patients aged <= 4 years who warrant further investigation for NP-C.