Cognition Associated with Dystrophin Deletion in Duchenne Muscular Dystrophy.

, Cho, Soo Kyoung; , Moon, Jae Ho; , Lee, Sang Chul; , Yoo, Tae Won; , Ha, Young Ran; , Park, Young Bum; , Choi, Won Ah

Original Article

Journal of the Korean Academy of Rehabilitation Medicine 2006;30(3):225-229.

Cho, Soo Kyoung , Moon, Jae Ho , Lee, Sang Chul , Yoo, Tae Won , Ha, Young Ran , Park, Young Bum , Choi, Won Ah

¹Department of Rehabilitation Medicine and Rehabilitation Institute of Muscular Disease, Yonsei University College of Medicine, Korea. bettertomo@yumc.yonsei.ac.kr
²Rehabilitation Psychology, Yong Dong Severance Hospital, Korea.

뒤시엔느형 근디스트로피 환자의 디스트로핀 결손과 인지 기능과의 관계

조수경, 문재호, 이상철, 유태원, 하영란¹, 박용범, 최원아

연세대학교 의과대학 재활의학교실, ¹영동세브란스병원 재활심리실

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 dele-tions, 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. (J Korean Acad Rehab Med 2006; 30: 225-229)

Key Words: Duchenne muscular dystrophy, Dystrophin deletion, Cognitive function