Alkaptonuria Severity Score Index Revisited: Analysing the AKUSSI and Its Subcomponent Features.

ABSTRACT:

Background

Alkaptonuria (AKU) is a rare disorder with no licensed treatment; nitisinone may reduce symptoms and progression. The All Alkaptonuria Severity Score Index (AKUSSI) measures disease severity in clinical, joint and spine domains, with 57 subcomponent feature scores. Our primary aim was to assess tools for validating scores such as the AKUSSI by detecting relationships between features both before and during nitisinone treatment.

Methods

AKUSSI measurements from nitisinone-treated patients visiting the National AKU Centre between 01-Jun-2012 and 31-May-2016 were analysed pre-treatment, at first treatment and annually to Year 3 post-treatment. Principal component analysis (PCA) and redundancy analysis assessed whether any AKUSSI features contributed little informatio

SUBMITTER: Langford B 

PROVIDER: S-EPMC6122049 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature