Relationship between gene mutations and intelligence in children with Duchenne muscular dystrophy

WANG Li-Bo; MA Hong-Wei; WANG Lin; TIAN Xiao-Bo; HU Man; REN Shuang; TAN Ying-Hua

PDF(952 KB)

Chinese Journal of Contemporary Pediatrics ›› 2011, Vol. 13 ›› Issue (10) : 804-807.

CLINICAL RESEARCH

Relationship between gene mutations and intelligence in children with Duchenne muscular dystrophy

WANG Li-Bo, MA Hong-Wei, WANG Lin, TIAN Xiao-Bo, HU Man, REN Shuang, TAN Ying-Hua

Author information +

History +

Abstract

OBJECTIVE: To study the level of intelligence in children with Duchenne muscular dystrophy (DMD), and the relationship between the level of intelligence and gene mutations. METHODS: One hundred and two children with DMD between January 2009 and March 2011 were enrolled. DMD gene detection was performed through the multiplex ligation-dependent probe amplification (MLPA) in 84 cases. The level and the structure of intelligence were evaluated by Chinese Wechsler Intelligence Scale for Children (C-WISC) in 50 children with DMD (≥6 years old; DMD group) and in 50 age-and gender-matched healthy children (control group). RESULTS: The average intelligence quotient (IQ) was 84±21 in 102 children with DMD. Thirty patients (29.4%) had the full intelligence quotient (FIQ) less than 70. The FIQ, verbal intelligence quotient (VIQ), performance intelligence quotient (PIQ) and the scores of 11 sub-tests of intelligence in the DMD group were significantly lower than those in the control group (P<0.01). The IQ in patients with gene mutations at exon 56-79 was the lowest (59.3±11.9), followed by in patients with gene mutations at exon 45-55 (88.6±1.9), at exon 1-29 (97.5±9.6) and at exon 30-44 (102.8±3.8) (P<0.01). CONCLUSIONS: The FIQ, VIQ and PIQ in children with DMD are lower than those in healthy children. There is association between mental retardation and gene mutations.

Key words

Duchenne muscular dystrophy / Intelligence / Gene mutation / Child

Cite this article

EndNote

Ris (Procite)

Bibtex

Download Citations

WANG Li-Bo, MA Hong-Wei, WANG Lin, TIAN Xiao-Bo, HU Man, REN Shuang, TAN Ying-Hua. Relationship between gene mutations and intelligence in children with Duchenne muscular dystrophy[J]. Chinese Journal of Contemporary Pediatrics. 2011, 13(10): 804-807

References

［1］Emery AE. Population frequencies of inherited neuromuscular disease-a world survey［J］. Neuromuscul Disord, 1991,1（1）: 19-29.

［2］D′ Angelo MG, Bresolin N. Cognitive impairment in neuromuscular disorders［J］. Muscle Nerve, 2006, 34(1): 16-33.

［3］Desguerre I, Christov C, Mayer M, Zeller R, Becane HM, Bastuji-Garin S, et al. Clinical heterogeneity of duchenne muscular dystrophy (DMD): definition of sub-phenotypes and predictive criteria by long-term follow-up［J］. PLoS One, 2009, 4(2): e4347.

［4］龚耀先, 蔡太生. 中国修订韦氏儿童智力量表(C-WISC)手册［M］. 长沙: 湖南地图出版社, 1993: 1-4.

［5］徐曼, 刘小红, 周熙惠, 杜亚梅，杨永华，李正浩. 贝利婴幼儿发展量表陕西关中农村常模的研究［J］. 中国儿童保健杂志, 2009, 17(2): 125-127.

［6］吴天敏. 中国比内测验指导书［M］. 北京: 北京大学出版社, 1982: 1-3.

［7］龚耀先, 戴晓阳. 中国-韦氏幼儿智力量表［M］. 长沙：湖南地图出版社, 1992: 1-2.

［8］Cotton SM,Vondouris NJ, Greenwood KM. Association between intellectual functioning and age in children and young adults with Duchenne muscular dystrophy: further results from a meta-analysis［J］. Dev Med Child Neurol, 2005,47(4): 257-265.

［9］Fabbro F, Marini A, Felisari G, Comi M, D′angelo MG, Turconi AC, et al. Language disturbances in a group of participants suffering from Duchenne muscular dystrophy: a pilot strdy［J］. Percept Mot Skills, 2007, 104 (2): 663-676.

［10］范存莲, 陈小义, 冯星. 儿童学习困难非智力因素研究［J］. 临床儿科杂志, 2003, 21（5）: 303-305.

［11］陶国泰. 儿童精神医学［M］. 南京: 江苏科学技术出版社, 1999: 136-138.

［12］曹俊娟. Duchenne 肌营养不良症的研究进展［J］. 重庆医科大学学报, 2007, 32(12): 1347-1350.

［13］Romero NB, Benveniste O, Payan C, Braun S, Squiban P, Herson S,et al. Current protocol of a research phase I clinical trial of full-length dystrophin plasmid DNA in Duchenne/Becker muscular dystrophies［J］. Neuromuscul Disord, 2002, 125(pt1): 4-13.

［14］余元勋，何光远，余国斌. 中国疾病相关基因与基因诊断［M］. 合肥: 安徽科学技术出版社, 2007：638-670.

［15］Muntoni F, Torelli S, Ferlini A. Dystrophin and mutations: one gene, several proteins, multiple phenotypes［J］. Lancet Neurol, 2003, 2(12): 731-740.

［16］Moizard MP, Toutain A, Fournier D, Berret F, Raynaud M, Billard C, et al. Severe cognitive impairment in DMD: obvious clinical indication for Dp71 isoform point mutation screening［J］. Eur J Hum Genet, 2000,8(7):552-556.

［17］麻宏伟. Duchenne 型肌营养不良症的诊断与治疗［J］. 中国实用儿科杂志, 2007, 22 (7): 552-554.

［18］Taylor PJ, Betts GA, Maroulis S, Gilissen C, Pedersen RL, Mowat DR, et al. Dystrophin gene mutation location and the risk of cognitive impairment in Duchenne muscular dystrophy［J］. PLoS One, 2010, 5(1): e8803.