Neurocognition across the spectrum of mucopolysaccharidosis type I: Age, severity, and treatment.

ABSTRACT:

Objectives

Precise characterization of cognitive outcomes and factors that contribute to cognitive variability will enable better understanding of disease progression and treatment effects in mucopolysaccharidosis type I (MPS I). We examined the effects on cognition of phenotype, genotype, age at evaluation and first treatment, and somatic disease burden.

Methods

Sixty patients with severe MPS IH (Hurler syndrome treated with hematopoietic cell transplant and 29 with attenuated MPS I treated with enzyme replacement therapy), were studied with IQ measures, medical history, genotypes. Sixty-seven patients had volumetric MRI. Subjects were grouped by age and phenotype and MRI and compared to 96 normal controls.

Results

Prior to hematopoietic cell transplant, MPS IH patie

SUBMITTER: Shapiro EG 

PROVIDER: S-EPMC4561597 | biostudies-literature | 2015 Sep-Oct

REPOSITORIES: biostudies-literature