Validation of the 5-domain Niemann-Pick type C Clinical Severity Scale.

ABSTRACT:

Background

Niemann-Pick disease type C (NPC) is an ultra-rare, progressive, genetic disease leading to impaired lysosomal function and neurodegeneration causing serious morbidity and shortened life expectancy. The Niemann-Pick type C Clinical Severity Scale (NPCCSS) is a 17 domain, disease-specific, clinician-reported outcome measure of disease severity and progression. An abbreviated 5-domain NPCCSS scale has been developed (measuring Ambulation, Swallow, Cognition, Speech, and Fine Motor Skills) and the scale reliability has been established. Additional psychometric properties and meaningful change of the scale need, however, to be assessed.

Methods

Mixed method studies were conducted to ascertain which NPCCSS domains were most important, as well as to explore meaningful c

SUBMITTER: Patterson MC 

PROVIDER: S-EPMC7881637 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature