脑瘫是一种由遗传和环境因素引起的儿童期神经系统疾病。

IF 2.9 3区 医学 Q1 PEDIATRICS
Seminars in Fetal & Neonatal Medicine Pub Date : 2024-11-01 Epub Date: 2024-11-07 DOI:10.1016/j.siny.2024.101551
Nandini G Sandran, Nadia Badawi, Jozef Gecz, Clare L van Eyk
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引用次数: 0

摘要

脑性瘫痪(CP)是一个临床术语,用于描述胎儿大脑发育过程中出现的非进行性障碍所导致的一系列运动和姿势障碍。CP 的临床诊断并不包括病理学或病因学的定义特征,因此 CP 诊断的范围包括遗传和环境致病途径。在这篇综述中,我们探讨了几种遗传致病途径,包括单基因风险和多基因风险,并提出了支持多因素导致 CP 的证据。从历史上看,CP 与早产、多胎妊娠、宫内生长受限(IUGR)、母体感染和围产期窒息等各种风险因素有关。因此,我们还研究了可能导致这些风险因素的遗传倾向。了解了 CP 的具体病因,就能采取更有针对性的治疗措施,尤其是随着早期基因检测的潜力不断增加。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Cerebral palsy as a childhood-onset neurological disorder caused by both genetic and environmental factors.

Cerebral palsy (CP) is a clinical term used to describe a spectrum of movement and posture disorders resulting from non-progressive disturbances in the developing fetal brain. The clinical diagnosis of CP does not include pathological or aetiological defining features, therefore both genetic and environmental causal pathways are encompassed under the CP diagnostic umbrella. In this review, we explore several genetic causal pathways, including both monogenic and polygenic risks, and present evidence supporting the multifactorial contributions to CP. Historically, CP has been associated with various risk factors such as pre-term birth, multiple gestation, intrauterine growth restriction (IUGR), maternal infection, and perinatal asphyxia. Thus, we also examine genetic predispositions that may contribute to these risk factors. Understanding the specific aetiology of CP enables more tailored treatments, especially with the increasing potential for early genetic testing.

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来源期刊
CiteScore
6.40
自引率
3.30%
发文量
49
审稿时长
6-12 weeks
期刊介绍: Seminars in Fetal & Neonatal Medicine (formerly Seminars in Neonatology) is a bi-monthly journal which publishes topic-based issues, including current ''Hot Topics'' on the latest advances in fetal and neonatal medicine. The Journal is of interest to obstetricians and maternal-fetal medicine specialists. The Journal commissions review-based content covering current clinical opinion on the care and treatment of the pregnant patient and the neonate and draws on the necessary specialist knowledge, including that of the pediatric pulmonologist, the pediatric infectious disease specialist, the surgeon, as well as the general pediatrician and obstetrician. Each topic-based issue is edited by an authority in their field and contains 8-10 articles. Seminars in Fetal & Neonatal Medicine provides: • Coverage of major developments in neonatal care; • Value to practising neonatologists, consultant and trainee pediatricians, obstetricians, midwives and fetal medicine specialists wishing to extend their knowledge in this field; • Up-to-date information in an attractive and relevant format.
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