聚微症:基于人口的队列队列中的流行病学,成像和临床方面
Sintia Kolbjer1,2, Daniel A Martín Muñoz3, Anne K Örtqvist4,5
1Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm 17177, Sweden.
Brain communications
|August 24, 2023
概括
这项研究发现,多微症 (一种常见的大脑形) 影响每1万名儿童中有2.3人,三分之一的病例是遗传原因造成的. 是常见的,并且在受影响的个体中常常具有耐治疗性.
科学领域:
- 神经科学是一个神经科学.
- 发育生物学 发展生物学
- 医学遗传学 医学遗传学
背景情况:
- 聚微症是一种常见的皮层形,但其在人口层面的流行率和发病率在很大程度上是未知的.
- 了解多微症的流行病学,神经成像特征,病因学和临床影响对于患者护理和研究至关重要.
研究的目的:
- 为了确定在一个定义的儿科群体中多微症的流行率和发病率.
- 描述神经成像多样性,病因因素和临床表型,包括和神经发育结果,与多微型有关.
主要方法:
- 斯德哥尔摩的一项基于人口的队列研究,分析了2004年至2021年间出生儿童的MRI扫描.
- 在放射学数据库中系统地搜索"polymicrogyria"的关键词,然后重新评估扫描和从医疗记录中提取临床数据.
- 使用区域人口数据和出生记录计算了流行率和发病率;审查了基因测试和病因调查.
主要成果:
- 该研究确定了109名患者,估计多微症的患病率为每10,000名儿童中的2.3,发病率为每10,000人年中的1.9.
- 额叶和近侧叶区域最常受到影响. 在32%的测试患者中发现了致病性遗传变异,其他原因包括感染和血管事件.
- 影响了54%的患者,通常是耐药的 (56%服用>2种药物),而94%的患者表现出神经发育症状.
结论:
- 这是第一个以人口为基础的研究,以确定多微症的流行率和发病率.
- 显著比例的多微病例具有遗传基础,并且这种情况与严重的,经常耐药的和广泛的神经发育挑战密切相关.
- 这些研究结果为改善遗传咨询,临床管理和了解多微症对受影响儿童及其家属的影响提供了必要的数据.
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