Berendine J. Ebbink

TL;DR: It is concluded that facial-muscle weakness, speech disorders and dysphagia are common in long-term survivors receiving ERT for classic infantile Pompe disease and to improve speech and reduce the risk for aspiration, early treatment by a speech therapist and regular swallowing assessments are recommended.

TL;DR: Cognitive development at school age ranged between normal and mildly delayed in long-term survivors with classic infantile Pompe disease treated with ERT, indicating that cognition is easily underestimated in children younger than 5 years with poor motor functioning.

TL;DR: To examine the long‐term consequences of glycogen storage in the central nervous system (CNS) for classic infantile Pompe disease using enzyme Replacement therapy using enzyme replacement therapy.

TL;DR: Clinical studies show normal to mildly delayed cognitive development in patients with classic infantile Pompe disease, and ERT cannot pass the blood–brain barrier.

TL;DR: An International MPS Consensus Conference for Cognitive Endpoints was convened to discuss approaches for evaluating cognitive and adaptive function in patients with mucopolysaccharidoses, with particular focus on the most appropriate outcome measures for cognitive function and adaptive behavior.