中国一项针对脑瘫儿童的纵向队列研究的原理与方案，该研究旨在评估功能发育趋势、遗传病因及影像学表现。

Rationale and protocol for a longitudinal cohort study of children with cerebral palsy in China assessing functional developmental trends, genetic aetiology and imaging.

作者信息

Peng Tingting, Peng Tingting, Li Jinling, He Zhaoyao, Luo Jie, Zhang Yuan, Hou Qingfen, Fan Danxia, Zhong Mengru, Zhang Yage, Liao Rongji, Zhang Jingbo, Zhou Hongyu, Liu Liru, Zheng Yun, Gao Ting, He Lu, Tang Hongmei, Zhang Jing, Wu Fan, Pi Lei, Lu Jinhua, Liu Hongsheng, Zhou Wenhao, Xu Kaishou

机构信息

Department of Rehabilitation, Guangzhou Women and Children's Medical Centre, Guangzhou Medical University, Guangzhou, Guangdong, China.

Department of Sport Rehabilitation, Shanghai University of Sport, Shanghai, China.

出版信息

BMJ Open. 2025 Jul 1;15(7):e086833. doi: 10.1136/bmjopen-2024-086833.

DOI:10.1136/bmjopen-2024-086833

PMID:40592745

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12215093/

Abstract

INTRODUCTION

Cerebral palsy (CP), the most common physical disability in children, imposes substantial economic and psychological burdens on families and society. The clinical management of CP remains challenging due to the limited efficacy of current treatments and the heterogeneity of its aetiologies and clinical presentations. This study aims to investigate the functional changes and identify influencing factors in Chinese children with CP. Through analysis of neuroimaging and genetic data, this study seeks to inform the development of preventive and therapeutic strategies and guide healthcare decision-making for this population.

METHODS AND ANALYSIS

This prospective cohort study aims to recruit 2051 children with CP across China. Baseline data will include demographic and clinical characteristics. Participants will undergo comprehensive assessments, including motor, cognitive, language, social, behavioural, nutritional, pain, sleep and quality-of-life domains, with regular follow-up evaluations. Trio whole-exome sequencing and detailed neuroimaging and musculoskeletal imaging will also be performed. This study will also assess caregivers' quality of life and emotional burden. Mendelian randomisation will be adopted to evaluate genetic contributions to functional outcomes and their causal relationship with health metrics. Analytical methods will include correlation analysis, logistic regression (binary and multivariate), linear and non-linear mixed-effects models and structural equation modelling.

ETHICS AND DISSEMINATION

Ethics approval was granted by the Research Ethics Committee of Guangzhou Women and Children's Medical Center (No.2023-346A01). All study procedures will adhere to the approved protocol. Study findings will be disseminated through peer-reviewed publications and conference presentations.

TRIAL REGISTRATION NUMBER

ChiCTR2300079017.

摘要

引言

脑性瘫痪（CP）是儿童中最常见的身体残疾，给家庭和社会带来了巨大的经济和心理负担。由于当前治疗效果有限以及其病因和临床表现的异质性，CP的临床管理仍然具有挑战性。本研究旨在调查中国CP儿童的功能变化并确定影响因素。通过对神经影像学和基因数据的分析，本研究旨在为预防和治疗策略的制定提供信息，并指导针对这一人群的医疗决策。

方法与分析

这项前瞻性队列研究旨在招募中国各地的2051名CP儿童。基线数据将包括人口统计学和临床特征。参与者将接受全面评估，包括运动、认知、语言、社交、行为、营养、疼痛、睡眠和生活质量等方面，并进行定期随访评估。还将进行三联体全外显子测序以及详细的神经影像学和肌肉骨骼影像学检查。本研究还将评估照顾者的生活质量和情感负担。将采用孟德尔随机化来评估基因对功能结局的贡献及其与健康指标的因果关系。分析方法将包括相关性分析、逻辑回归（二元和多变量）、线性和非线性混合效应模型以及结构方程建模。