التفاصيل البيبلوغرافية
| العنوان: |
Neurocognition across the spectrum of mucopolysaccharidosis type I: Age, severity, and treatment |
| المؤلفون: |
Shapiro, Elsa G, Nestrasil, Igor, Rudser, Kyle, Delaney, Kathleen, Kovac, Victor, Ahmed, Alia, Yund, Brianna, Orchard, Paul J, Eisengart, Julie, Niklason, Gregory R, Raiman, Julian, Mamak, Eva, Cowan, Morton J, Bailey-Olson, Mara, Harmatz, Paul, Shankar, Suma P, Cagle, Stephanie, Ali, Nadia, Steiner, Robert D, Wozniak, Jeffrey, Lim, Kelvin O, Whitley, Chester B |
| المصدر: |
Molecular Genetics and Metabolism, vol 116, iss 1-2 |
| بيانات النشر: |
eScholarship, University of California |
| سنة النشر: |
2015 |
| المجموعة: |
University of California: eScholarship |
| مصطلحات موضوعية: |
Biomedical and Clinical Sciences, Clinical Sciences, Mucopolysaccharidoses (MPS), Genetics, Transplantation, Rare Diseases, Clinical Research, Clinical Trials and Supportive Activities, Adolescent, Adult, Age Factors, Child, Preschool, Cognition, Cognition Disorders, Enzyme Replacement Therapy, Female, Gray Matter, Hematopoietic Stem Cell Transplantation, Humans, Infant, Male, Mucopolysaccharidosis I, Patient Outcome Assessment, White Matter, Young Adult, Mucopolysaccharidosis Type I, Neurocognition, Genotypes, Neuroimaging |
| جغرافية الموضوع: |
61 - 68 |
| الوصف: |
ObjectivesPrecise 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.MethodsSixty 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.ResultsPrior to hematopoietic cell transplant, MPS IH patients were all cognitively average, but post-transplant, 59% were below average, but stable. Genotype and age at HCT were associated with cognitive ability. In attenuated MPS I, 40% were below average with genotype and somatic disease burden predicting their cognitive ability. White matter volumes were associated with IQ for controls, but not for MPS I. Gray matter volumes were positively associated with IQ in controls and attenuated MPS I patients, but negatively associated in MPS IH.ConclusionsCognitive impairment, a major difficulty for many MPS I patients, is associated with genotype, age at treatment and somatic disease burden. IQ association with white matter differed from controls. Many attenuated MPS patients have significant physical and/or cognitive problems and receive insufficient support services. Results provide direction for future clinical trials and better disease management. |
| نوع الوثيقة: |
article in journal/newspaper |
| وصف الملف: |
application/pdf |
| اللغة: |
unknown |
| العلاقة: |
qt2db678p4; https://escholarship.org/uc/item/2db678p4Test |
| الإتاحة: |
https://escholarship.org/uc/item/2db678p4Test |
| حقوق: |
public |
| رقم الانضمام: |
edsbas.B8B54011 |
| قاعدة البيانات: |
BASE |
