Resting-state functional MRI shows altered default-mode network functional connectivity in Duchenne muscular dystrophy patients

N. Doorenweerd*, M. de Rover, C. Marini-Bettolo, K.G. Hollingsworth, E.H. Niks, J.G.M. Hendriksen, H.E. Kan, V. Straub

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

6 Citations (Web of Science)


Duchenne muscular dystrophy (DMD) is an X-linked recessive neuromuscular disorder caused by absence of dystrophin protein. Dystrophin is expressed in muscle, but also in the brain. Difficulties with attention/inhibition, working memory and information processing are well described in DMD patients but their origin is poorly understood. The default mode network (DMN) is one of the networks involved in these processes. Therefore we aimed to assess DMN connectivity in DMD patients compared to matched controls, to better understand the cognitive profile in DMD. T1-weighted and resting state functional MRI scans were acquired from 33 DMD and 24 male age-matched controls at two clinical sites. Scans were analysed using FMRIB Software Library (FSL). Differences in the DMN were assessed using FSL RANDOMISE, with age as covariate and threshold-free cluster enhancement including multiple comparison correction. Post-hoc analyses were performed on the visual network, executive control network and fronto-parietal network with the same methods. In DMD patients, the level of connectivity was higher in areas within the control DMN (hyperconnectivity) and significant connectivity was found in areas outside the control DMN. No hypoconnectivity was found and no differences in the visual network, executive control network and fronto-parietal network. We showed differences both within and in areas outside the DMN in DMD. The specificity of our findings to the DMN can help provide a better understanding of the attention/inhibition, working memory and information processing difficulties in DMD.
Original languageEnglish
Pages (from-to)2297-2307
Number of pages11
JournalBrain Imaging and Behavior
Issue number5
Early online date3 Jan 2021
Publication statusPublished - Oct 2021


  • attention
  • boys
  • brain
  • children
  • cortex
  • default-mode network
  • duchenne muscular dystrophy
  • dystrophin
  • gray-matter
  • heterogeneity
  • inhibition
  • language
  • neuropsychiatric disorders
  • resting state functional mri
  • system
  • Default-mode Network
  • Duchenne muscular dystrophy
  • Dystrophin
  • Resting state functional MRI
  • Attention
  • BOYS

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