Publications by authors named "Berendine J Ebbink"
Objective: To advance the prediction of the neurocognitive development in MPS II patients by jointly analyzing MRI and neurocognitive data in mucopolysaccharidosis (MPS) II patients.
Methods: Cognitive ability scores (CAS) were obtained by neuropsychological testing. Cerebral MRIs were quantified using a disease-specific protocol.
Article Synopsis
- The study investigates the long-term effects of glycogen storage in the brain for patients with classic infantile Pompe disease receiving enzyme replacement therapy.
- MRI scans revealed that as patients aged, there were progressive abnormalities in the brain’s white matter, with changes starting around age 2 and worsening into adolescence.
- Neuropsychological outcomes varied significantly among patients, highlighting the need for enhanced follow-up care and potential inclusion of brain health in future treatment strategies.
The design and conduct of clinical studies to evaluate the effects of novel therapies on central nervous system manifestations in children with neuronopathic mucopolysaccharidoses is challenging. Owing to the rarity of these disorders, multinational studies are often needed to recruit enough patients to provide meaningful data and statistical power. This can make the consistent collection of reliable data across study sites difficult.
View Article and Find Full Text PDFBackground: 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.
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