Clinical study on cognitive impairment in Duchenne muscular dystrophy

作者全名："Zhang, Xiao-Fang; Luo, Yuan-Yuan; Jiang, Li; Hong, Si-Qi"

作者地址："[Zhang, Xiao-Fang; Luo, Yuan-Yuan; Jiang, Li; Hong, Si-Qi] Chongqing Med Univ, Childrens Hosp, Natl Clin Res Ctr Child Hlth & Disorders,China Int, Dept Neurol,Minist Educ,Key Lab Child Dev & Disord, Chongqing, Peoples R China; [Hong, Si-Qi] Chongqing Med Univ, Childrens Hosp, 2nd Zhongshan Rd, Chongqing, Peoples R China"

通信作者："Hong, SQ (通讯作者)，Chongqing Med Univ, Childrens Hosp, 2nd Zhongshan Rd, Chongqing, Peoples R China."

来源：NEUROMUSCULAR DISORDERS

ESI学科分类：NEUROSCIENCE & BEHAVIOR

WOS号：WOS:001038997600001

JCR分区：Q2

影响因子：2.7

年份：2023

卷号：33

期号：7

开始页：596

结束页：604

文献类型：Article

关键词：Duchenne muscular dystrophy; Dystrophin; Cognitive impairment; Glucocorticoids

摘要："Our study aimed to explore the intellectual function of patients with Duchenne muscular dystrophy (DMD) in China and examine the correlation of full-scale intelligence quotient (FSIQ) with age, mutation locations, mutation class, and dystrophin isoforms. We assessed 64 boys with DMD using The Wechsler Intelligence Scales for Children-Fourth Edition and compared intellectual function at enrollment and follow-up in the 15 patients who completed the follow-up. Our findings confirm that boys with DMD may exhibit cognitive impairment, with the Working Memory Index being the most impaired. There was no significant correlation between FSIQ and age; however, a positive correlation was noted between age and the Verbal Comprehension Index. FSIQ was not associated with mutation class, the number of affected mutated exons, or mutation locations. However, there was a significant difference in FSIQ between the groups with intact and deficient Dp140. Fifteen participants adhered to glucocorticoid therapy throughout the two-year follow-up period, and eleven of them showed an improvement in FSIQ compared to their initial scores, with improvement ranging from 2 to 20. In conclusion, patients with the cumulative loss of isoforms in the brain are at a higher risk of cognitive deficits and may require early cognitive interventions.& COPY; 2023 Elsevier B.V. All rights reserved."

基金机构：Chongqing Foundation for the Municipal Health Commission and Committee of Science [2019GDRC015]; Chongqing Foundation; Future Medical Youth Innovation Team Project of Chongqing Medical University [W0126]

基金资助正文：This work was supported by Chongqing Foundation for the Municipal Health Commission and Committee of Science [2019GDRC015] ; the Chongqing Foundation and the Future Medical Youth Innovation Team Project of Chongqing Medical University [W0126] .