儿童与16p11.2副本数变异的行为和社会沟通特征的关联:一个多站点研究
J Verbesselt1,2, L K Walsh3, M W Mitchel3
1Department of Human Genetics, KU Leuven, Leuven, Belgium.
Journal of intellectual disability research : JIDR
|April 24, 2024
概括
患有16p11.2副本数变异 (CNVs) 的儿童经历了重大的行为和社会沟通挑战. 这些困难高度相关,表明需要综合性临床护理.
科学领域:
- 遗传学 是一个遗传学.
- 神经发育障碍 神经发育障碍
- 儿科 儿科 儿科
背景情况:
- 在16p11.2 (BP4-BP5) 处的复发副本数变异 (CNV) 是已知的行为和语言困难的风险因素.
- 有限的研究已经探索了16p11.2删除综合征 (16p11.2DS) 和16p11.2重复 (16p11.2Dup) 个体的行为和社会沟通特征之间的特定关联.
研究的目的:
- 确定16p11.2DS和16p11.2Dup的学龄儿童行为和社会沟通特征的流行,性质和严重程度.
- 调查这些人群中的行为和社会沟通特征之间的关联.
主要方法:
- 评估68名6至17岁的儿童 (47名16p11.2DS,21名16p11.2Dup) 使用标准化智力测试和行为和社会沟通技能的问卷.
- 与人口规范和跨CNV群体的比较得分,调查混因素并进行相关性分析.
主要成果:
- 患有16p11.2DS的儿童表现出高水平的社会反应能力 (67%) 和沟通问题 (69%),其中52%显示出行为问题.
- 患有16p11.2Dup的儿童甚至有更高的社会沟通问题 (80-90%) 和更多的外部化/整体行为挑战 (89%).
- 在 CNV 两组中,在行为和社会沟通技能之间观察到强烈的正相关性.
结论:
- 与规范样本相比,患有16p11.2 CNV的学龄儿童表现出较高的行为,社会反应和沟通问题.
- 研究结果表明,在这些CNV人群中,自闭症特征和诊断的流行率很高,行为和社会沟通问题之间存在显著的共患性.
- 患有并发困难的个体需要更密切的临床随访和护理,因为他们的脆弱性增加了.
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