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Lookup NU author(s): Dr Nathalie Doorenweerd,
Professor Annemieke Aartsma-Rus
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© 2020 European Paediatric Neurology SocietyNeurocognitive deficits are frequently described in Duchenne muscular dystrophy (DMD), but it is unknown how these progress over time. Our aim was to longitudinally assess verbal span capacity and information processing speed in DMD and to explore a genotype-phenotype relation. Verbal span and processing speed scores were available of 28 males with DMD on two time-points, with a mean time interval of 28.34 months (SD = 16.09). The cohort contained of six patients missing only dystrophin isoform Dp427, sixteen missing Dp427 and Dp140, and six were undeterminable. A lower verbal span capacity was found at the first and second assessment, whereas processing speed was normal at both time-points. Post-hoc analyses suggested lower scores on verbal span and processing speed for patients missing Dp427 and Dp140. In DMD, a developmental stagnation in verbal span capacity, irrespective of normal processing speed, is detected through longitudinal follow-up. This appears more pronounced in patients missing Dp427 and Dp140.
Author(s): Hellebrekers DMJ, Doorenweerd N, Sweere DJJ, van Kuijk SMJ, Aartsma-Rus AM, Klinkenberg S, Vles JSH, Hendriksen JGM
Publication type: Article
Publication status: Published
Journal: European Journal of Paediatric Neurology
Issue: ePub ahead of Print
Online publication date: 07/01/2020
Acceptance date: 03/01/2020
ISSN (print): 1090-3798
ISSN (electronic): 1532-2130
Publisher: W.B. Saunders Ltd
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