Pien Weerkamp, Daniela Chieffo, Philippe Collin, Federica Moriconi, Andriani Papageorgiou, Isabella Vainieri, Ruben Miranda, Catherine Hankinson, Asmus Vogel, Sarah Poncet, Catherine Moss, Francesco Muntoni, Eugenio Mercuri, Jos Hendriksen 

DOI https://doi.org/10.1016/j.ejpn.2023.06.007 

Duchenne muscular dystrophy (DMD) is a genetic disorder characterized by progressive muscle degeneration and weakness, primarily affecting boys. While the physical manifestations of DMD are well-documented, its psychological impact has gathered increasing attention in recent years. Psychological tests play a large role in assessing the emotional and cognitive aspects of individuals with DMD, yet their standardized use across different healthcare centers in Europe is still unclear. This study aims to explore the utilization of psychological tests in DMD assessment across multiple European centers, shedding light on common practices. 

Methods 

The study adopts a multi-center approach, collecting and analyzing data from various healthcare facilities specializing in DMD treatment across the EU.  An open-ended questionnaire was sent to healthcare professionals, including neuropsychologists and pediatricians, to gather insights into their practices and perceptions on psychological testing in DMD and diagnosis that are being made based on the instruments used. 

Results 

The findings reveal a wide variation in the usage of psychological tests among different European centers specializing in DMD care. While certain standardized assessments such as the Wechsler Intelligence Scale for Children (WISC) and the Child Behavior Checklist (CBCL) are commonly utilized, there is great diversity in the selection and administration of tests across centers. Factors influencing test selection include center-specific protocols and availability of different instruments and/or normative data.  However, methodological challenges that come with cross-cultural research in psychology are raised.  

Discussion 

The study highlights the need for standardized guidelines regarding the usage of psychological tests in DMD assessment across EU healthcare centers. The variability in test usage highlights on one hand, the complexity of brain related comorbidities in dystrophinopathies and on the other hand the need to identify a kit of tools that would allow a comparison of the results. Establishing consensus on recommended tests, assessment protocols, and interpretation criteria can facilitate more uniform and comprehensive evaluation of psychological aspects in DMD patients, leading to improved patient care and outcomes.  Collecting population-specific information on utility, validity and normative data in dystrophinopathies is part of the BIND project and still ongoing. 

Conclusion 

This explorative study confirms a large heterogeneity in the assessments used: e.g. 79 tests are used for psychological and cognitive assessment. While its usage varies across European healthcare centers, there is a consensus on its importance in guiding treatment and support strategies for DMD patients. Standardizing the selection, administration, and interpretation of psychological tests can enhance the consistency and quality of DMD assessment, ultimately improving patient care and quality of life of each patient living with Duchenne.