An exploratory study of brain function and structure in mucopolysaccharidosis type I: Long term observations following hematopoietic cell transplantation (HCT)

Elsa Shapiro, O. Evren Guler, Kyle Rudser, Kathleen Delaney, Kendra Bjoraker, Chester Whitley, Jakub Tolar, Paul Orchard, James Provenzale, Kathleen M. Thomas

Research output: Contribution to journalArticlepeer-review

27 Scopus citations

Abstract

Aim: 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: Subjects: 7 MPS IH participants at least 5. years post-HCT were compared with 7 attenuated participants who were treated with ERT. Measures: 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. Interpretation: In children with MPS IH, both the treatment and the disease affect attention functions associated with poor white matter integrity.

Original languageEnglish (US)
Pages (from-to)116-121
Number of pages6
JournalMolecular Genetics and Metabolism
Volume107
Issue number1-2
DOIs
StatePublished - Sep 2012

Bibliographical note

Funding Information:
The study was supported by grants from Genzyme Corporation , Biomarin Pharmaceuticals , Minnesota Medical Foundation , the Ryan Foundation and the Lysosomal Disease Network NIH U54NS065768 and the resources of the Center for Magnetic Resonance Research and the Center for Neurobehavioral Development at the University of Minnesota.

Keywords

  • Attention span
  • Cognition
  • Diffusion tensor imaging
  • Hematopoietic cell transplant
  • MPS I
  • Medical history

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