The Neurocognitive and Behavioral Profiles of 3 Brothers With Becker Muscular Dystrophy

Child Neurology Open

article

Danique M. J. Hellebrekers¹  Johan S. H. Vles²  Sylvia Klinkenberg¹  Jos G. M. Hendriksen¹ 

[1] Centre for Neurological Learning Disabilities;School for Mental Health and Neuroscience, Maastricht University;Department of Neurology, Maastricht University Medical Centre;Duchenne Centre

关键词: Becker muscular dystrophy;    neurodevelopment;    behavior;    learning disabilities;    mutations;    dystrophin gene;    dystrophin isoforms;    epigenetics;    cognition;   

DOI  :  10.1177/2329048X20957217

学科分类：电子与电气工程

来源: Sage Journals

【 摘 要 】

Becker muscular dystrophy patients generally carry in-frame mutations in the dystrophin gene, allowing the production of partially functional dystrophin protein. The presence of cognitive and behavioral comorbidities and the relation with the location of mutations has been scarcely investigated in Becker. This case report describes the neurocognitive and behavioral profiles of 3 brothers with Becker carrying an in-frame deletion of exons 45-48. The 3 cases underwent 2 consecutive neuropsychological assessments of which one assessment took place when they completed their primary education (age range of the cases: 11.2 -12.1 years). Intellectual abilities were normal to high and all cases had difficulties with processing speed and math. The brothers differed in intellectual abilities, executive functions, working memory, attention and reading abilities. Variability in cognitive development was noted as well. This report suggests that cognitive and behavioral functions in Becker vary regardless of gene mutation and exposer to similar environmental factors.

【 授权许可】

CC BY|CC BY-NC