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围生期前或围生期获得性脑瘫儿童的先天畸形:一项国际数据关联研究。

Congenital anomalies in children with pre- or perinatally acquired cerebral palsy: an international data linkage study.

机构信息

Cerebral Palsy Alliance Research Institute, Discipline of Child and Adolescent Health, The University of Sydney, Sydney, Australia.

Cerebral Palsy Registry of Norway, Vestfold Hospital Trust, Tønsberg, Norway.

出版信息

Dev Med Child Neurol. 2021 Apr;63(4):413-420. doi: 10.1111/dmcn.14602. Epub 2020 Jun 24.

Abstract

AIM

To describe the frequency and types of major congenital anomalies present in children with pre- or perinatally acquired cerebral palsy (CP), and compare clinical outcomes for children with and without anomalies.

METHOD

This multi-centre total population collaborative study between Surveillance of Cerebral Palsy in Europe, Australian Cerebral Palsy Register, and European Surveillance of Congenital Anomalies (EUROCAT) involved six European and three Australian regions. Data were linked between each region's CP and congenital anomaly register for children born between 1991 and 2009, and then pooled. Children were classified into mutually exclusive categories based on type of anomaly. Proportions of children with congenital anomalies were calculated, and clinical outcomes compared between children with and without anomalies.

RESULTS

Of 8201 children with CP, 22.8% (95% confidence interval [CI] 21.9, 23.8) had a major congenital anomaly. Isolated cerebral anomalies were most common (45.2%), with a further 8.6% having both cerebral and non-cerebral anomalies. Cardiac anomalies only were described in 10.5% of children and anomalies associated with syndromes were also reported: genetic (8.0%), chromosomal (5.7%), and teratogenic (3.0%). Clinical outcomes were more severe for children with CP and congenital anomalies, particularly cerebral anomalies.

INTERPRETATION

This large, international study reports major congenital anomalies in nearly one-quarter of children with pre- or perinatally acquired CP. Future research must focus on aetiological pathways to CP that include specific patterns of congenital anomalies.

WHAT THIS PAPER ADDS

Congenital anomalies were reported in 23% of children with pre- or perinatally acquired cerebral palsy. A higher proportion of children born at or near term had anomalies. The most common type of anomalies were isolated cerebral anomalies. Clinical outcomes were more severe for children with congenital anomalies (particularly cerebral).

摘要

目的

描述在产前或围产期获得性脑瘫(CP)患儿中存在的主要先天性异常的频率和类型,并比较有和无异常患儿的临床结局。

方法

本研究为欧洲脑瘫监测(Surveillance of Cerebral Palsy in Europe)、澳大利亚脑瘫登记处(Australian Cerebral Palsy Register)和欧洲先天性异常监测(EUROCAT)之间的多中心全人群合作研究,涉及六个欧洲和三个澳大利亚地区。将每个地区 CP 和先天性异常登记处之间出生于 1991 年至 2009 年的儿童的数据进行链接,并进行汇总。根据异常类型将儿童分为互斥类别。计算有先天性异常儿童的比例,并比较有和无异常儿童的临床结局。

结果

在 8201 例 CP 患儿中,22.8%(95%置信区间[CI]21.9,23.8)有主要先天性异常。单纯脑异常最常见(45.2%),另有 8.6%的患儿既有脑异常又有非脑异常。仅有心脏异常的患儿占 10.5%,还报告了与综合征相关的异常:遗传(8.0%)、染色体(5.7%)和致畸(3.0%)。CP 合并先天性异常患儿的临床结局更为严重,尤其是脑异常患儿。

解释

这项大型国际研究报告称,近四分之一的产前或围产期获得性 CP 患儿存在重大先天性异常。未来的研究必须集中于包括特定先天性异常模式的 CP 的病因途径。

本文添加内容

在产前或围产期获得性脑瘫患儿中,23%的患儿存在先天性异常。接近足月或足月出生的患儿中,异常的比例更高。最常见的异常类型是单纯脑异常。合并先天性异常的患儿(尤其是脑异常)临床结局更为严重。

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