Cognition Associated with Dystrophin Deletion in Duchenne Muscular Dystrophy.
- Author:
Soo Kyoung CHO
1
;
Jae Ho MOON
;
Sang Chul LEE
;
Tae Won YOO
;
Young Ran HA
;
Young Bum PARK
;
Won Ah CHOI
Author Information
1. Department of Rehabilitation Medicine and Rehabilitation Institute of Muscular Disease, Yonsei University College of Medicine, Korea. bettertomo@yumc.yonsei.ac.kr
- Publication Type:Original Article
- Keywords:
Duchenne muscular dystrophy;
Dystrophin deletion;
Cognitive function
- MeSH:
Child;
Cognition*;
Dystrophin*;
Exons;
Gene Deletion;
Humans;
Intellectual Disability;
Intelligence;
Multiplex Polymerase Chain Reaction;
Muscular Dystrophy, Duchenne*
- From:Journal of the Korean Academy of Rehabilitation Medicine
2006;30(3):225-229
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
OBJECTIVE: To find correlations between the deletion of dystrophin gene and cognitive status in Duchenne muscular dystrophy (DMD). METHOD: Cognitive abilities of 49 DMD children with dystrophin deletion were tested. Korean Wechsler Intelligence Scale for children was used to evaluate the cognitive status in DMD. Gene deletion was classified into two groups according to the location of the rearrangement (proximal region: central and 3' region of the gene). RESULTS: Molecular study by multiplex PCR (Polymerase Chain Reaction) of dystrophin exons was performed to identify 49 deletions in the 110 DMD patients. 13 out of 49 DMD were mentally impaired. In patients with distal deletions, total IQ (Intelligence Quotient) score was lower than the those with proximal deletions; which was not statistically significant. And the difference of the verbal and performance intelligence scale was not statistically significant. But comparisons of molecular and neuropsychological features showed that deletions localized in the central and 3' regions of the gene were preferentially associated with the mental impairement. CONCLUSION: We concluded that deletions in the distal portions of the gene were more related to the mental retardation, although deletions with variable locations might lead to cognitive impairments.
