Cognitive and behavioral functioning in two neurogenetic disorders; how different are these aspects in Duchenne muscular dystrophy and Neurofibromatosis type 1?

Danique M.J. Hellebrekers*, Sandra A.M. van Abeelen, Coriene E. Catsman, Sander M.J. van Kuijk, Annick M. Laridon, Sylvia Klinkenberg, Jos G.M. Hendriksen, Johan S.H. Vles

*Corresponding author for this work

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The presence of neurocognitive and behavioral problems are common features in various neurogenetic disorders. In Duchenne muscular dystrophy (DMD), these problems have been linked to mutations along the dystrophin gene affecting different brain dystrophin isoforms. However, comparable cognitive and behavioral problems have been found in Neurofibromatosis type 1 (NF1). This study aims to assess disorder specific differences in cognition and behavior between DMD and NF1. Retrospective data of 38 male patients with DMD were aged-matched with data of 38 male patients with NF1. Patients of both groups underwent neurocognitive assessment for regular clinical care. Intellectual abilities, sequential and simultaneous processing, verbal memory and sustained attention were evaluated. In addition, parents and teachers completed behavioral questionnaires. Males with DMD exhibited low intellectual abilities and sequential processing problems, but these outcomes not significantly differed from males with NF1. Simultaneous processing, verbal memory and sustained attention outcomes were equal for both groups. Outcomes of questionnaires displayed higher rates of aggressive behavior (13.2%) in DMD, whereas in NF1 higher rates of problems with thinking (15.8%), withdrawn (10.5%) and social behavior (10.5%) were noticed. In the neurogenetic disorders DMD and NF1, on average overlapping cognitive and behavioral problems are noticed, suggesting that these are not only caused by gene mutations resulting in a lack of one specific protein.

Original languageEnglish
Article numbere0275803
JournalPLoS ONE
Issue number10 October
Publication statusPublished - Oct 2022

Bibliographical note

Funding Information:
Stichting Spieren voor Spieren, SvS15, Jos G.M. Hendriksen Duchenne Parent Project, Brain imaging and cognition in Duchenne muscular dystrophy-2010, Jos G.M. Hendriksen. All reimbursements were received by Kempenhaeghe, Heeze, the Netherlands. No personal financial benefits were received. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. The authors would like to thank the following people: prof. dr. E. Legius for his personal comments on genetic information on NF1, dr. M. Sinnema for the genetic information on microdeletions of the included patients with NF1, the patients of the Centre for Neurological Learning Disabilities that give consent to use their clinical data for scientific research purposes, and Erasmus Medical Centre for the collaboration in Neurofibromatosis 1 clinical care and scientific purposes.

Publisher Copyright:
© 2022 Hellebrekers et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.


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