Long-term cognitive and functional outcomes in children with mucopolysaccharidosis (MPS)-IH (Hurler Syndrome) treated with hematopoietic cell transplantation

Alicia S Kunin-Batson, Elsa G Shapiro, Kyle Rudser, C. A. Lavery, K. J. Bjoraker, S. A. Jones, R. F. Wynn, A. Vellodi, Jakub Tolar, Paul J Orchard, J. E. Wraith

Research output: Chapter in Book/Report/Conference proceedingChapter

19 Scopus citations

Abstract

The long-term cognitive and functional outcomes of children with mucopolysaccharidosis type I (MPS-IH) post-hematopoietic cell transplant (HCT) are not well documented, and the role of genetic and treatment factors in these outcomes has yet to be defined. In this multi-site, international study, we (1) characterize the cognitive and functional status of 47 individuals (ages 2–25, mean of 10.6 years) with MPS-IH who are 1–24 years post HCT (mean = 9 years) and (2) examine contributions of genotype, transplant characteristics, and sociodemographic factors to cognitive ability, adaptive behavior, and quality of life. The overall cognitive ability of our sample was mildly impaired, more than two standard deviations below general population norms. Parent reported adaptive behaviors (i.e., communication, daily living, and motor skills) were similarly impaired with a relative strength in socialization. Quality of life, as reported by parents, fell more than two standard deviations below population norms for physical functioning; however, psychosocial quality of life (emotional well-being) approximated population norms. In linear regression analysis, adjusted for demographic and treatment factors, mutation severity was associated with lower cognitive ability (p = 0.005) and adaptive functioning (p = 0.004), but not parent ratings of children’s quality of life. Older age at HCT was associated with poorer physical quality of life (p = 0.002); lower socioeconomic status (p = 0.028) and unrelated bone marrow HCT (p = 0.010) were associated with poorer psychosocial quality of life. Implications for screening and early intervention for children at risk for poorer cognitive and functional outcomes are described.

Original languageEnglish (US)
Title of host publicationJIMD Reports
PublisherSpringer
Pages95-102
Number of pages8
DOIs
StatePublished - Jan 1 2016

Publication series

NameJIMD Reports
Volume29
ISSN (Print)2192-8304
ISSN (Electronic)2192-8312

Keywords

  • Adaptive Functioning
  • Adaptive Skill
  • Hematopoietic Cell Transplantation
  • Mutation Type
  • Total Body Irradiation

Fingerprint Dive into the research topics of 'Long-term cognitive and functional outcomes in children with mucopolysaccharidosis (MPS)-IH (Hurler Syndrome) treated with hematopoietic cell transplantation'. Together they form a unique fingerprint.

  • Cite this