Longitudinal follow-up of verbal span and processing speed in Duchenne muscular dystrophy

Eur J Paediatr Neurol. 2020 Mar;25:120-126. doi: 10.1016/j.ejpn.2020.01.002. Epub 2020 Jan 7.

Abstract

Neurocognitive 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.

Keywords: Cognition; Developmental stagnation; Duchenne muscular dystrophy; Dystrophin isoforms; Genotype; Longitudinal follow-up study.

MeSH terms

  • Child
  • Cognition / physiology
  • Dystrophin / genetics
  • Follow-Up Studies
  • Genetic Association Studies
  • Humans
  • Longitudinal Studies
  • Male
  • Muscular Dystrophy, Duchenne / complications*
  • Muscular Dystrophy, Duchenne / genetics
  • Neurodevelopmental Disorders / genetics*
  • Verbal Behavior*

Substances

  • Dystrophin