Cognitive outcomes and age of detection of severe mucopolysaccharidosis type 1.

ABSTRACT: The US Secretary of Health and Human Services recommended in February 2016 that mucopolysaccharidosis type 1 (MPS I) be added to the recommended uniform screening panel for state newborn screening programs. One of the key factors in this decision was the evidence suggesting that earlier treatment with hematopoietic cell transplantation (HCT) for the most severe form, Hurler syndrome (MPS IH), would lead to improved cognitive outcomes. Consistent evidence from peer-reviewed studies suggests that transplantation in the first year of life is associated with improved developmental quotient or intelligence quotient and continued cognitive growth, with earlier age of treatment associated with improved outcomes. However, available evidence suggests that cognitive functioning and attention can sti

SUBMITTER: Grosse SD 

PROVIDER: S-EPMC5763496 | biostudies-literature | 2017 Sep

REPOSITORIES: biostudies-literature