Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders.

ABSTRACT:

Objective

Individuals with urea cycle disorders (UCDs) often present with intellectual and developmental disabilities. The major aim of this study was to evaluate the impact of diagnostic and therapeutic interventions on cognitive outcomes in UCDs.

Methods

This prospective, observational, multicenter study includes data from 503 individuals with UCDs who had comprehensive neurocognitive testing with a cumulative follow-up of 702 patient-years.

Results

The mean cognitive standard deviation score (cSDS) was lower in symptomatic than in asymptomatic (p < 0.001, t test) individuals with UCDs. Intellectual disability (intellectual quotient < 70, cSDS < -2.0) was associated with the respective subtype of UCD and early disease onset, whereas height of the initial peak plasma

SUBMITTER: Posset R 

PROVIDER: S-EPMC6692656 | biostudies-literature | 2019 Jul

REPOSITORIES: biostudies-literature