Long-term cognitive follow-up in children treated for Maroteaux-Lamy syndrome.

ABSTRACT:

Background

It remains unclear to what extent the brain is affected by Maroteaux-Lamy syndrome (MPS VI), a progressive lysosomal storage disorder. While enzyme replacement therapy (ERT) elicits positive effects, the drug cannot cross the blood-brain barrier. We therefore studied cognitive development and brain abnormalities in the Dutch MPS VI patient population treated with ERT.

Methods

In a series of 11 children with MPS VI (age 2 to 20 years), we assessed cognitive functioning and brain magnetic resonance imaging prospectively at the start of ERT and at regular times thereafter up to 4.8 years. We also assessed the children's clinical characteristics, their siblings' cognitive development, and their parents' educational levels.

Results

The patients' intelligence sco

SUBMITTER: Ebbink BJ 

PROVIDER: S-EPMC4754322 | biostudies-literature | 2016 Mar

REPOSITORIES: biostudies-literature