Neurocognition and behaviour: diagnostic work-up and interventions in Duchenne and Becker muscular dystrophy

Duchenne (DMD) and Becker (BMD) Muscular Dystrophy are hereditary, progressive muscle diseases caused by changes or mutations in the Duchenne Muscular Dystrophy (DMD) gene. This gene is part of the hereditary material, the DNA. These muscle diseases occur almost exclusively in boys. The dystrophin gene is responsible for the production of multiple dystrophin isoforms that occur in different body tissues, namely in the muscles, kidneys, eye and brain. Scientific research in recent years has focused on investigating the link between the disrupted production of dystrophin in the brain and the more frequent occurrence of neurocognitive (i.e. learning and thinking problems) and behavioural problems. The exact role of dystrophin in cognition and behaviour remains unclear. The aim of this thesis was to further describe the relationship between dystrophin in the brain and the common behavioural and neurocognitive problems. In addition, a literature review was used to identify the psychological measurement instruments used in the scientific literature. Finally, little research has been done on treatments to reduce the consequences of behavioural and neurocognitive problems. This dissertation studied two treatments in boys with DMD, namely a psychological intervention (cognitive working memory training) and a medication-based treatment to improve attention (methylphenidate).