Neuropsychological impairments and the impact of dystrophin mutations on general cognitive functioning of patients with Duchenne muscular dystrophy

Abstract 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 gen...

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Bibliographic Details
Published in:Journal of clinical neuroscience 2011-01, Vol.18 (1), p.90-95
Main Authors: Wingeier, Kevin, Giger, Elisabeth, Strozzi, Susi, Kreis, Roland, Joncourt, Franziska, Conrad, Bernard, Gallati, Sabina, Steinlin, Maja
Format: Article
Language:English
Subjects:
Adolescent
Child
Child, Preschool
Cognition
Cognition - physiology
Cognition Disorders - genetics
Cognition Disorders - physiopathology
Cognition Disorders - psychology
Dystrophin
Dystrophin - genetics
Executive functions
Humans
Impairment
Intelligence - genetics
Male
Muscle disease
Muscular Dystrophy, Duchenne - genetics
Muscular Dystrophy, Duchenne - physiopathology
Muscular Dystrophy, Duchenne - psychology
Mutation
Neurology
Neuropsychological Tests
Short-term memory
Statistics, Nonparametric
Young Adult
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Summary:Abstract 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.
ISSN:0967-5868
1532-2653
DOI:10.1016/j.jocn.2010.07.118