注意缺陷多动障碍儿童各类精神障碍的多基因遗传风险与临床症状及认知功能的相关性分析

吴赵敏, 王鹏, 董超, 操小兰, 胡兰芳, 寇聪, 江家靖, 张琳琳, 杨莉, 王玉凤, 李颖, 杨斌让

中国当代儿科杂志 ›› 2025, Vol. 27 ›› Issue (9) : 1089-1097.

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中国当代儿科杂志 ›› 2025, Vol. 27 ›› Issue (9) : 1089-1097. DOI: 10.7499/j.issn.1008-8830.2502097
论著·临床研究

注意缺陷多动障碍儿童各类精神障碍的多基因遗传风险与临床症状及认知功能的相关性分析

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Relationship between polygenic risk scores for various psychiatric disorders and clinical and neuropsychological characteristics in children with attention-deficit/hyperactivity disorder

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摘要

目的 探讨在注意缺陷多动障碍(attention-deficit/hyperactivity disorder, ADHD)儿童中,各类精神障碍的多基因风险与其临床症状及认知功能的相关关系。 方法 采用横断面设计,选取285例ADHD患儿和107例正常对照为研究对象,使用Achenbach儿童行为量表、执行功能行为评定量表(父母版)、韦氏儿童智力测验量表及剑桥自动化神经心理测验对两组儿童进行评估。对所有儿童采集血样以检测基因型数据,并利用PRSice-2软件估算各类精神障碍的多基因风险评分(polygenic risk score, PRS)。 结果 ADHD患儿的ADHD、重型抑郁障碍、焦虑障碍和强迫症相关PRS均高于正常对照组(P<0.05)。执行功能行为评定量表中,ADHD相关PRS与工作记忆因子得分、惊恐障碍相关PRS与启动因子得分、双相情感障碍相关PRS与转换因子得分的相关性有统计学意义(P<0.05);精神分裂症PRS与抑制、情绪控制、启动、工作记忆、计划、组织和监控等因子得分的相关性有统计学意义(P<0.05)。焦虑障碍相关PRS与总智商和加工速度指数呈负相关(P<0.05)。强迫症相关PRS与加工速度指数呈负相关,与停止信号任务停止信号反应时间呈正相关(P<0.05)。 结论 多种精神障碍的多基因风险评分均显示出对ADHD患儿行为及认知功能有显著影响。该发现为深入解析ADHD的异质性机制提供了新的科学依据。

Abstract

Objective To investigate the relationship between the polygenic risks for various psychiatric disorders and clinical and neuropsychological characteristics in children with attention-deficit/hyperactivity disorder (ADHD). Methods Using a cross-sectional design, 285 children with ADHD and 107 healthy controls were assessed using the Child Behavior Checklist, the Behavior Rating Inventory of Executive Function for parents, the Wechsler Intelligence Scale for Children, Fourth Edition, and the Cambridge Neuropsychological Test Automated Battery. Blood samples were collected for genetic data. Polygenic risk scores (PRSs) for various psychiatric disorders were calculated using the PRSice-2 software. Results Compared with the healthy controls, the children with ADHD displayed significantly higher PRSs for ADHD, major depressive disorder, anxiety disorder, and obsessive-compulsive disorder (P<0.05). In terms of daily-life executive function, ADHD-related PRS was significantly correlated with the working memory factor; panic disorder-related PRS was significantly correlated with the initiation factor; bipolar disorder-related PRS was significantly correlated with the shift factor; schizophrenia-related PRS was significantly correlated with the inhibition, emotional control, initiation, working memory, planning, organization, and monitoring factors (P<0.05). The PRS related to anxiety disorders was negatively correlated with total IQ and processing speed index (P<0.05). The PRS related to obsessive-compulsive disorder was negatively correlated with the processing speed index and positively correlated with the stop-signal reaction time index of the stop-signal task (P<0.05). Conclusions PRSs for various psychiatric disorders are closely correlated with the behavioral and cognitive characteristics in children with ADHD, which provides more insights into the heterogeneity of ADHD.

关键词

注意缺陷多动障碍 / 多基因遗传风险 / 精神障碍 / 行为 / 认知功能 / 儿童

Key words

Attention-deficit/hyperactivity disorder, Polygenic risk score / Psychiatric disorder / Behavior / Cognitive function / Child

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吴赵敏, 王鹏, 董超, . 注意缺陷多动障碍儿童各类精神障碍的多基因遗传风险与临床症状及认知功能的相关性分析[J]. 中国当代儿科杂志. 2025, 27(9): 1089-1097 https://doi.org/10.7499/j.issn.1008-8830.2502097
Zhao-Min WU, Peng WANG, Chao DONG, et al. Relationship between polygenic risk scores for various psychiatric disorders and clinical and neuropsychological characteristics in children with attention-deficit/hyperactivity disorder[J]. Chinese Journal of Contemporary Pediatrics. 2025, 27(9): 1089-1097 https://doi.org/10.7499/j.issn.1008-8830.2502097

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脚注

所有作者均声明无利益冲突。

基金

深圳市医疗卫生三名工程项目(SZSM201612036)
深圳市科技计划资助(RCYX20221008092849069)
广东省高水平医院建设专项经费

编委: 王颖

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