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中国循证儿科杂志

中国循证儿科杂志 ›› 2021, Vol. 16 ›› Issue (6): 421-425.

• 论著 • 上一篇    下一篇

典型雷特综合征疾病严重程度与临床特征和结构磁共振 灰白质参数的相关性分析

朱国青1a，2，李慧萍1a，王均波1b，张颖1a，鲁萍1a，朱叶1a，张凯峰1a，潘学霞2，乔中伟1b，徐秀1a，李冬蕴1a，徐琼1a   

  1. 1 复旦大学附属儿科医院上海，201102，a 儿童保健科，b 放射科；2 山东省滨州市人民医院儿科滨州，256600
  • 收稿日期:2021-10-13 修回日期:2022-02-24 出版日期:2021-12-25 发布日期:2021-12-25
  • 通讯作者: 徐琼，email：xuqiong@fudan.edu.cn；李冬蕴，email：dongyunli@fudan.edu.cn

Correlation analysis of clinical severity，clinical manifestations and structural neuroimaging parameters of typical Rett Syndrome

ZHU Guoqing1a,2, LI Huiping1a, WANG Junbo1b, ZHANG Ying1a, LU Ping1a, ZHU Ye1a, ZHANG Kaifeng1a, PAN Xuexia2, QIAO Zhongwei1b, XU Xiu1a, LI Dongyun1a, XU Qiong1a   

  1. 1 Children's Hospital of Fudan University, Shanghai 201102, China, a.Child Health Care Department, b.Radiology Department; 2 Pediatric Department, Binzhou People's Hospital, Binzhou 256600, China
  • Received:2021-10-13 Revised:2022-02-24 Online:2021-12-25 Published:2021-12-25
  • Contact: XU Qiong, email: xuqiong@fudan.edu.cn; LI Dongyun, email: dongyunli@fudan.edu.cn

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摘要： 背景：既往研究发现雷特综合征(RTT)基因型和表型有一定相关性，且存在头围减小和脑容量减少，但缺乏临床表型与脑灰白质参数的相关性研究。 目的：探讨典型RTT的临床严重程度与临床表型、发育水平、睡眠情况及脑灰白质参数之间的相关性，以指导临床诊疗。 设计：横断面调查的相关性分析。 方法：纳入典型RTT患儿，行MECP2基因检测，参照RTT严重度量表（RSSS）进行临床严重程度评估，Griffiths发育量表（GDSC）评估发育情况，儿童睡眠习惯问卷（CSHQ）评估睡眠情况，MR检测脑白质、灰质指标，行多元线性回归分析。 主要结局指标：典型RTT的RSSS与GDSC、CSHQ和MR灰质白质参数的相关性。 结果：纳入2014年7月至2021年6月复旦大学附属儿科医院收治的典型RTT连续病例22例，均为女性，年龄（3.1±0.8）岁，均存在MECP2基因的致病性变异，RSSS评分为（5.91±1.38）分，GDSC总发育商为17.89±7.93，CSHQ总分为54.05±5.52。RSSS与GDSC个人社会能区发育商(r=-0.518， P=0.007)、手眼协调能区发育商(r=-0.4， P=0.032)、总发育商(r=-0.429， P=0.023)，灰质总体积(r=-0.571， P=0.003)、白质总体积(r=-0.514， P=0.007)、白质弥散张量成像参数各向异性(r=-0.472， P=0.013)、平均弥散量(r=0. 519， P=0.007)、径向弥散率(r=0.528， P=0.006) 和轴向弥散率(r=0.491， P=0.01) 均呈显著相关。 结论：典型RTT的RSSS除了与发育水平相关外，也与结构MR灰质、白质参数相关，在评估RTT患儿疾病严重程度时具有潜在的价值。

关键词: 雷特综合征, MECP2, 临床表型, 磁共振成像, 儿童

Abstract: Background: Researches have demonstrated the correlation between geneotype and phenotype as well as decreased head circumference and intracranial volume in Rett Syndrome (RTT),but it is unclear how the phenotypes and neuroimaging parameters correlate. Objective: To investigate the correlations between the clinical severity and developmental level, sleep status and gray and white matter parameters in typical RTT to guide thte diagnosis and treatment. Design: Crosssectional correlation analysis. Methods: Children with typical RTT underwent MECP2 gene testing were included. The clinical severity was evaluated based on the Rett Syndrome Severity Scale (RSSS). Griffiths Development ScalesChinese (GDSC) was used to assess the developmental status. Children Sleep Habit Questionnaire (CSHQ) was used to assess the sleep status. Magnetic resonance imaging (MRI) was applied to obtain the brain white and gray matter index. Multiple linear regression analysis was applied. Main outcome measures: The correlations between RSSS, GDSC, CSHQ and neuroimaging parameters. Results: A total of 22 children with typical RTT administered at Children's Hospital of Fudan University from July 2014 to June 2021 were recruited. Twentytwo children were all females and aged 3.1±0.8 years old. All had been detected with pathogenic variants in the MECP2 gene. RSSS score was 5.91±1.38, the GDSC total DQ was 17.89±7.93 and the CSHQ score was 54.05±5.52. Multiple linear regression analysis revealed that RSSS was significantly correlated with BDQ(r=-0.518， P=0.007)，DDQ(r=-0.4， P=0.032) and total DQ(r=-0.429， P=0.023) of GDSC as well as GMV(r=-0.571， P=0.003)， WMV(r=-0.514， P=0.007)， FA(r=-0.472， P=0.013)， MD(r=0. 519， P=0.007)， RD(r=0.528， P=0.006) and AD(r=0.491， P=0.01) for MRI parameters. Conclusion: The RSSS score of typical RTT correlated with developmental level and gray and white matter parameters,and it has potential value in assessing the clinical severity in patients with RTT.

Key words: Rett syndrome, MECP2, Clinical Phenotype, MRI, Children