Jos Hendriksen, Pien Weerkamp, Ruben Miranda, Anna Kolesnik, Daniela Chieffo, David Skuse, Elizabeth Vroom, Chloe Reagan, Francesco Muntoni, Eugenio Mercuri, on behalf of the BIND WP5 working group. Towards harmonization of clinical tools for assessing Brain Involvement iN Dystrophinopathies (BIND); report of four expert workshops: Newcastle, Leiden, Rome, Paris. Neuromuscular Disorders. 2025, Volume 44, 104452

https://www.nmd-journal.com/article/S0960-8966(24)00948-9/abstract

As part of an EU multicentre study to better understand how Duchenne and Becker muscular dystrophies (DMD and BMD) affect the brain, a group of doctors, psychologists, researchers, and family organizations worked together between 2020 and 2024. For the clinical assessment on these co-morbidities the first aim was to harmonise  the best tools to assess the cognitive and behavioural problems that people with these conditions often experience.

A consensus was reached on instruments that should be used in different participating centres, including general screenings, behavioural assessment and in person neuropsychological assessment. This was an intensive process performed by psychologists from each centre during the several working conferences. The protocol that was established  can be used in a standardised way over the six participating countries.

The instruments selected can be used for research by exploring how brain involvement in DMD and BMD might be linked to the loss of certain dystrophin proteins. Comparing these findings with brain scans and studies in animal models may lead to a deeper understanding of the brain’s role in these disorders. Ultimately, this collaborative effort aims to improve the diagnosis and care of people with DMD and BMD.