Journal
JOURNAL OF CLINICAL NEUROSCIENCE
Volume 18, Issue 1, Pages 90-95Publisher
ELSEVIER SCI LTD
DOI: 10.1016/j.jocn.2010.07.118
Keywords
Cognition; Dystrophin; Impairment; Muscle disease; Short-term memory; Executive functions
Categories
Funding
- Swiss National Science Foundation (SNF) [3100-059082.99]
Ask authors/readers for more resources
Mutations in the dystrophin gene have long been recognised as a cause of mental retardation. However, for reasons that are unclear, some boys with dystrophin mutations do not show general cognitive deficits. To investigate the relationship between dystrophin mutations and cognition, the general intellectual abilities of a group of 25 boys with genetically confirmed Duchenne muscular dystrophy were evaluated. Furthermore, a subgroup underwent additional detailed neuropsychological assessment. The results showed a mean full scale intelligence quotient (IQ) of 88 (standard deviation 24). Patients performed very poorly on various neuropsychological tests, including arithmetics, digit span tests and verbal fluency. No simple relationship between dystrophin mutations and cognitive functioning could be detected. However, our analysis revealed that patients who lack the dystrophin isoform Dp140 have significantly greater cognitive problems. (C) 2010 Elsevier Ltd. All rights reserved.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available