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Objective: To quantify changes in segmented brain volumes over 12 months in children with mucopolysaccharidosis types IIIA and IIIB (MPS IIIA and IIIB)., Methods: In order to establish suitable outcome measures for clinical trials, twenty-five children greater than 2 years of age were enrolled in a prospective natural history study of MPS IIIA and IIIB at Nationwide Children's Hospital. Data from sedated non-contrast brain 3 T MRIs and neuropsychological measures were reviewed from the baseline visit and at 12-month follow-up. No intervention beyond standard clinical care was provided. Age- and sex-matched controls were gathered from the National Institute of Mental Health Data Archive. Automated brain volume segmentation with longitudinal processing was performed using FreeSurfer., Results: Of the 25 subjects enrolled with MPS III, 17 children (4 females, 13 males) completed at least one MRI with interpretable volumetric data. The ages ranged from 2.8 to 13.7 years old (average 7.2 years old) at enrollment, including 8 with MPS IIIA and 9 with MPS IIIB. At baseline, individuals with MPS III demonstrated reduced cerebral white matter and corpus callosum volumes, but greater volumes of the lateral ventricles, cerebellar cortex, and cerebellar white matter compared to controls. Among the 13 individuals with MPS III with two interpretable MRIs, there were annualized losses or plateaus in supratentorial brain tissue volumes (cerebral cortex -42.10 ± 18.52 cm 3 /year [mean ± SD], cerebral white matter -4.37 ± 11.82 cm 3 /year, subcortical gray matter -6.54 ± 3.63 cm 3 /year, corpus callosum -0.18 ± 0.62 cm 3 /yr) and in cerebellar cortex (-0.49 ± 12.57 cm 3 /year), with a compensatory increase in lateral ventricular volume (7.17 ± 6.79 cm 3 /year). Reductions in the cerebral cortex and subcortical gray matter were more striking in individuals younger than 8 years of age. Greater cerebral cortex volume was associated with higher fine and gross motor functioning on the Mullen Scales of Early Learning, while greater subcortical gray matter volume was associated with higher nonverbal functioning on the Leiter International Performance Scale. Larger cerebellar cortex was associated with higher receptive language performance on the Mullen, but greater cerebellar white matter correlated with worse adaptive functioning on the Vineland Adaptive Behavioral Scales and visual problem-solving on the Mullen., Conclusions: Loss or plateauing of supratentorial brain tissue volumes may serve as longitudinal biomarkers of MPS III age-related disease progression compared to age-related growth in typically developing controls. Abnormally increased cerebellar white matter in MPS III, and its association with worse performance on neuropsychological measures, suggest the possibility of pathophysiological mechanisms distinct from neurodegeneration-associated atrophy that warrant further investigation., (Copyright © 2021. Published by Elsevier Inc.)

Rationale and Objectives: We describe our preliminary experience using a 2D turbo gradient- and spin-echo (TGSE) diffusion-weighted (DW) pulse sequence with non-Cartesian BLADE trajectory at 3 T in pediatric patients. We compared the TGSE BLADE to conventional DW spin-echo echo-planar imaging (SE-EPI) in pediatric brain imaging, assessing the presence of artifacts from signal pile-ups, geometric distortion, motion, susceptibility from air-tissue interface, shunts and orthodontia, and diagnostic image quality., Materials and Methods: Data were acquired in 53 patients (10.4 ± 7.9 years). All DW imaging data were acquired precontrast, with SE-EPI first. A four-point scale for rating was used-1 (best) and 4 (worst). A neuroradiologist scored the two sequences and further noted whether the TGSE BLADE approach or SE-EPI was preferred in each case. Apparent diffusion coefficients were compared quantitatively between the two sequences in a subset of 16 patients, in 41 separate regions of interests including caudate nucleus, putamen, globus pallidus, thalamus, and pathological areas., Results: In 43.4% of the cases, TGSE BLADE was preferred; in 49.1% of the cases, both sequences were preferred equally. Average scores for SE-EPI were 2.2 ± 0.8 versus TGSE's 1.2 ± 0.4 in assessing diagnostic quality (p < 0.05). Motion artifacts were minimal on both sequences in 92.5% of the cases. In the TGSE BLADE scores, no case received a "4" for significant artifacts with marginally acceptable image quality. Apparent diffusion coefficients values between the two sequences were statistically similar, with a linear regression slope of 0.92 (r 2  = 0.97)., Conclusion: TGSE BLADE DW imaging exhibited less geometric distortion in the brain and reduced signal pile-ups in areas of high susceptibility than conventional SE-EPI., (Copyright © 2019 The Association of University Radiologists. Published by Elsevier Inc. All rights reserved.)

Background: 3D pseudocontinuous arterial spin labeling (pCASL) with a single post-labeling delay time is commonly used to measure cerebral blood flow (CBF). Multi-phase pCASL has been developed to simultaneously estimate CBF and arterial transit time (ATT)., Purpose: To evaluate the clinical feasibility of multi-phase 3D pCASL in pediatric patients, and to compare the estimation of ATT and CBF via linear weighted-delay and traditional non-linear iterative curve-fitting routines., Material & Methods: Forty patients (average age: 8.6 y, 5 d-22.4 y) referred for routine brain MRI underwent additional 5-7 min of pCASL scans at 3T using 5 PLDs between 300 and 2300 ms. Data were post-processed by two algorithms for estimating CBF and ATT. Average CBF and ATT values were computed for vascular territories including the anterior, middle and posterior cerebral arteries as well as regions based on the Alberta Stroke Program Early CT Score template. Pearson correlation coefficients and linear regression were used for statistical analysis. The clinical value of multi-phase CASL was evaluated by a neuroradiologist based on asymmetric CBF and ATT maps in patients., Results: All pCASL scans were successfully completed, generating diagnostic results. CBF computed from weighted-delay and curve-fitting methods agreed strongly, with Pearson correlation coefficients ranging from 0.97-0.99 across the measured regions (p < 0.05). Correlation coefficients for ATT ranged from 0.87-0.96 (p < 0.05). CBF and ATT maps were found to add valuable information to clinical diagnosis in 17 of 40 pediatric patients., Conclusion: Our preliminary results demonstrate the feasibility and potential clinical utility of multi-phase pCASL for simultaneous CBF and ATT quantification in pediatric patients., (Copyright © 2018 Elsevier Inc. All rights reserved.)