Reid Susan M, Hinwood Gina L, Guzys Angela T, Hunt Rod W, Reddihough Dinah S
Neurodisability and Rehabilitation, Murdoch Children's Research Institute, Parkville, Victoria, Australia.
Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia.
Dev Med Child Neurol. 2025 Mar;67(3):374-381. doi: 10.1111/dmcn.16073. Epub 2024 Sep 5.
To determine the proportion of persons with cerebral palsy (CP) with major congenital anomalies, factors associated with the presence of anomalies, body systems involved, potential contribution to CP aetiology, and causal pathway subgroups implicated.
This population-based, observational study involved a cohort of 2238 persons born in one Australian state between 1999 and 2017. Major congenital anomalies were classified as affecting cerebral, cardiac, or other body systems, with further categorization as single or multisystem. We determined the potential for anomalies to contribute to the development of CP across causal pathway subgroups that were broadly categorized as developmental or involving destructive brain insults.
Of persons with CP, 23% had major congenital anomalies and 17% of the cohort had anomalies that potentially contributed to the development of CP. Consistent with higher odds of parental consanguinity, maternal grand multiparity, and dysmorphic features in the group with anomalies, 82% of pathogenic anomalies, present in 14% of the cohort, were cerebral and involved developmental causal pathways. Only 3% (predominantly severe cardiac anomalies) were related to destructive brain insults.
The study provides context for the impact on rates of CP of preventive measures or other changes in incidence or management of congenital anomalies.
确定患有脑性瘫痪（CP）且伴有主要先天性异常的人群比例、与异常存在相关的因素、涉及的身体系统、对CP病因的潜在影响以及所涉及的因果途径亚组。
这项基于人群的观察性研究涉及1999年至2017年在澳大利亚一个州出生的2238人队列。主要先天性异常被分类为影响大脑、心脏或其他身体系统，并进一步分为单系统或多系统。我们确定了异常在广泛分类为发育性或涉及破坏性脑损伤的因果途径亚组中对CP发展的潜在影响。
在患有CP的人群中，23%有主要先天性异常，该队列中有17%的人有可能导致CP发展的异常。与异常组中较高的近亲结婚几率、母亲多产以及畸形特征一致，该队列中14%的人存在的82%的致病性异常是脑部的且涉及发育性因果途径。只有3%（主要是严重心脏异常）与破坏性脑损伤有关。
该研究为先天性异常的预防措施或发病率或管理方面的其他变化对CP发病率的影响提供了背景信息。
