title: An exploratory study of brain function and structure in mucopolysaccharidosis type I: long term observations following hematopoietic cell transplantation (HCT).
abstract: OBJECTIVE
  Although hematopoietic cell transplantation (HCT) arrests the cognitive decline in mucopolysaccharidosis type IH (Hurler syndrome, MPS IH), these children continue to have neuropsychological deficits as they age. Both compromised attention and effects on white matter have been observed in cancer patients who have had chemotherapy. Therefore, we explored the effects of disease and treatment on brain function in children with MPS I who have had HCT with those with attenuated MPS I treated with enzyme replacement therapy (ERT).
  
  
  METHODS
  
  
  
  METHODS
  7 MPS IH participants at least 5 years post-HCT were compared with 7 attenuated participants who were treated with ERT.
  
  
  METHODS
  IQ, attention, spatial ability, and memory were assessed. Medical history and an unsedated MRI scan using diffusion tensor imaging (DTI) were acquired.
  
  
  RESULTS
  Despite clinically equivalent IQ and memory, children with MPS IH had poorer attention span than those with attenuated MPS I as well as decreased fractional anisotropy (FA) of the corpus callosum. A relationship between attention scores and FA was found in the MPS IH group but not the attenuated group. FA was also related to the frequency of medical events.
  
  
  CONCLUSIONS
  In children with MPS IH, both the treatment and the disease affect attention functions associated with poor white matter integrity.
authors.affiliation: Division of Pediatric Clinical Neuroscience, Department of Pediatrics, University of Minnesota, USA. shapi004@umn.edu
authors.forename: Elsa
authors.initials: E
authors.lastname: Shapiro
authors.forename: O Evren
authors.initials: OE
authors.lastname: Guler
authors.forename: Kyle
authors.initials: K
authors.lastname: Rudser
authors.forename: Kathleen
authors.initials: K
authors.lastname: Delaney
authors.forename: Kendra
authors.initials: K
authors.lastname: Bjoraker
authors.forename: Chester
authors.initials: C
authors.lastname: Whitley
authors.forename: Jakub
authors.initials: J
authors.lastname: Tolar
authors.forename: Paul
authors.initials: P
authors.lastname: Orchard
authors.forename: James
authors.initials: J
authors.lastname: Provenzale
authors.forename: Kathleen M
authors.initials: KM
authors.lastname: Thomas
mesh_terms: D000293:Adolescent; D000328:Adult; D001921:Brain / Q000473:pathology* / Q000503:physiopathology*; D002648:Child; D056324:Diffusion Tensor Imaging; D056947:Enzyme Replacement Therapy; D005260:Female; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D008297:Male; D008059:Mucopolysaccharidosis I / Q000175:diagnosis* / Q000523:psychology / Q000628:therapy*; D016896:Treatment Outcome; D055815:Young Adult