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Chinese Journal of Evidence-Based Pediatrics ›› 2021, Vol. 16 ›› Issue (6): 421-425.

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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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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