Novel approaches to quantify CNS involvement in children with Pompe disease.

dc.contributor.author

Korlimarla, Aditi

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Spiridigliozzi, Gail A

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Crisp, Kelly

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Herbert, Mrudu

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Chen, Steven

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Malinzak, Michael

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Stefanescu, Mihaela

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Austin, Stephanie L

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Cope, Heidi

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Zimmerman, Kanecia

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Jones, Harrison

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Provenzale, James M

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Kishnani, Priya S

dc.date.accessioned

2020-08-11T16:57:50Z

dc.date.available

2020-08-11T16:57:50Z

dc.date.issued

2020-06-09

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2020-08-11T16:57:36Z

dc.description.abstract

OBJECTIVE:To characterize the extent of central nervous system involvement in children with Pompe disease using brain magnetic resonance imaging (MRI) and developmental assessments. METHODS:The study included fourteen children (ages 6-18 years) with infantile Pompe disease (IPD) (n=12) or late onset Pompe disease (LOPD) (n=2) receiving enzyme replacement therapy. White matter (WM) hyperintense foci seen in the brain MRIs were systematically quantified using the Fazekas scale (FS) grading system with a novel approach; the individual FS scores from ten anatomical areas were summed to yield a total FS score (range: absent-0 to severe-30) for each child. The FS scores were compared to developmental assessments of cognition and language obtained during the same time period. RESULTS:Mild to severe WM hyperintense foci were seen in 10/12 children with IPD (median age-10.6 years) with total FS scores ranging from 2 to 23. Periventricular, subcortical and deep WM were involved. WM hyperintense foci were seen throughout the path of the corticospinal tracts in the brain in children with IPD. Two children with IPD had no WM hyperintense foci. Children with IPD had relative weaknesses in Processing Speed, Fluid Reasoning, Visual Perception, and receptive vocabulary. The two children with LOPD had no WM hyperintense foci, and high scores on most developmental assessments. CONCLUSION:This study systematically characterized WM hyperintense foci in children with IPD; which could serve as a benchmark for longitudinal follow up of WM abnormalities in patients with Pompe disease and other known neurodegenerative disorders or leukodystrophies in children.

dc.identifier

WNL.0000000000009979

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0028-3878

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1526-632X

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https://hdl.handle.net/10161/21305

dc.language

eng

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Ovid Technologies (Wolters Kluwer Health)

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Neurology

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10.1212/wnl.0000000000009979

dc.title

Novel approaches to quantify CNS involvement in children with Pompe disease.

dc.type

Journal article

duke.contributor.orcid

Korlimarla, Aditi|0000-0002-0680-9949

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Zimmerman, Kanecia|0000-0003-3748-6932

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Jones, Harrison|0000-0002-4171-980X

duke.contributor.orcid

Kishnani, Priya S|0000-0001-8251-909X

pubs.begin-page

10.1212/WNL.0000000000009979

pubs.end-page

10.1212/WNL.0000000000009979

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Staff

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Pediatrics, Medical Genetics

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Duke

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Pediatrics

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Clinical Science Departments

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School of Medicine

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Published

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