title: 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 still lag behind unaffected age-matched children, leading to the need for special education services. Verbal and nonverbal cognitive abilities outcomes may be affected differently by HCT. With the recent addition of MPS I to the recommended uniform screening panel, future work is needed to evaluate the impact of earlier, presymptomatic detection and treatment initiation and other supportive therapies on cognitive outcomes.Genet Med advance online publication 26 January 2017.
authors.affiliation: National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia, USA.
authors.forename: Scott D
authors.identifier: 0000-0003-1078-6855
authors.initials: SD
authors.lastname: Grosse
authors.affiliation: Duke Clinical Translational Science Institute, Duke University, Durham, North Carolina, USA.
authors.forename: Wendy K K
authors.identifier: 0000-0002-4110-9059
authors.initials: WKK
authors.lastname: Lam
authors.affiliation: National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia, USA.
authors.forename: Lisa D
authors.initials: LD
authors.lastname: Wiggins
authors.affiliation: Duke Clinical Translational Science Institute, Duke University, Durham, North Carolina, USA.
authors.forename: Alex R
authors.identifier: 0000-0001-5491-3997
authors.initials: AR
authors.lastname: Kemper
mesh_terms: D000367:Age Factors; D002675:Child, Preschool; D003071:Cognition; D019468:Disease Management; D056947:Enzyme Replacement Therapy; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D007223:Infant; D008297:Male; D008059:Mucopolysaccharidosis I / Q000175:diagnosis* / Q000235:genetics / Q000523:psychology* / Q000628:therapy; D010641:Phenotype; D012720:Severity of Illness Index; D016896:Treatment Outcome