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In today’s #apaperaday, Prof. Aartsma-Rus reads and comments on the paper titled: The neurocognitive profile of adults with Becker muscular dystrophy in the Netherlands Paper today is a preprint from Journal of Neuromuscular Diseases by Koeks et al from Duchenne Center NL on cognition and learning capacity in Becker patients. Doi 10.3233/JND-210770. Duchenne patients make no full length dystrophin in muscle and brain and show progressive muscle weakness and also cognitive problems, learning difficulties and behavioral problems. Becker patients make partially functional dystrophins and have slower muscle disease progression. However, whether they have cognitive problems or learning difficulties has been little studied. Here authors evaluated 28 Becker patients from the Netherlands. None were (ever) steroid treated. The full scale IQ was significantly lower than average, but within normal range. Executive functioning & verbal memory were also significantly lower but within normal range. Patients had problems with spontaneous planning but not with structured planning. Based on self reports, there were no differences for behavioral problems compared to normal population Authors discuss that like Duchenne patients, Becker patients appear to have a problem with automatization - though to a lesser extent. This resulted in problems with math and reading and almost 50% of patients had to repeat a class (compared to ~25 of Dutch average). Authors discuss that only a few patients were diagnosed with dyslexia and dyscalculia. However, some patients were in school in the 70s and 80s where these disabilities were not on the radar so likely there is underdiagnosis. However, the good news is that with time it seems patients learned to cope with the learning problems. Authors also looked at whether the presence or absence of DP140 influenced cognitive functioning but this did not seem to be the case. Authors discuss the limitations of the study: the behavioral results were based on a self-report. Only 28 patients were involved in this study and there may have been a bias into who participated. A nice initial study - as always more research is needed. However, it is good that Becker patients are studied as well as Duchenne patients. More work on both dystrophinopathies ongoing in the BIND project.

#apaperaday: The neurocognitive profile of adults with Becker muscular dystrophy in the Netherlands

In today’s #apaperaday, Prof. Aartsma-Rus reads and comments on the paper titled: The neurocognitive profile of adults with Becker muscular dystrophy in the Netherlands.

Paper today is a preprint from Journal of Neuromuscular Diseases by Koeks et al from Duchenne Center NL on cognition and learning capacity in Becker patients. Doi 10.3233/JND-210770.

Duchenne patients make no full length dystrophin in muscle and brain and show progressive muscle weakness and also cognitive problems, learning difficulties and behavioral problems. Becker patients make partially functional dystrophins and have slower muscle disease progression.

However, whether they have cognitive problems or learning difficulties has been little studied. Here authors evaluated 28 Becker patients from the Netherlands. None were (ever) steroid treated. The full scale IQ was significantly lower than average, but within normal range.

Executive functioning & verbal memory were also significantly lower but within normal range. Patients had problems with spontaneous planning but not with structured planning. Based on self reports, there were no differences for behavioral problems compared to normal population.

Authors discuss that like Duchenne patients, Becker patients appear to have a problem with automatization – though to a lesser extent. This resulted in problems with math and reading and almost 50% of patients had to repeat a class (compared to ~25 of Dutch average).

Authors discuss that only a few patients were diagnosed with dyslexia and dyscalculia. However, some patients were in school in the 70s and 80s where these disabilities were not on the radar so likely there is underdiagnosis.

However, the good news is that with time it seems patients learned to cope with the learning problems. Authors also looked at whether the presence or absence of DP140 influenced cognitive functioning but this did not seem to be the case.

Authors discuss the limitations of the study: the behavioral results were based on a self-report. Only 28 patients were involved in this study and there may have been a bias into who participated. A nice initial study – as always more research is needed. However, it is good that Becker patients are studied as well as Duchenne patients. More work on both dystrophinopathies ongoing in the BIND project.

European Neuromuscular Centre (ENMC)

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