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Background: There has been increasing use of hospital discharge data to identify congenital anomalies, with limited information about the accuracy of these data., Objectives: To evaluate the accuracy of hospital discharge data in ascertaining major congenital anomalies in infants., Methods: All liveborn infants with major congenital anomalies born between 2004 and 2009 in New South Wales, Australia were included. They were separated into two study groups: (a) infants identified from the Register of Congenital Conditions with a corresponding record in linked hospital discharge data; and (b) infants with a recorded congenital anomaly in hospital data, but without a register record. For the first group, we assessed agreement (concordant diagnoses) and the proportion of anomalies with discrepant diagnoses in each dataset. For the second group, we determined the number of anomalies recorded only in hospital data and applied specific conditions restricting to those recorded in the birth admission, excluding nonspecific diagnoses, or those with relevant surgical procedures to minimize potential false positives or over-reporting., Results: The first study group included 9,346 infants with an average 84% agreement in the ascertainment of major anomalies between hospital and registry data, and >93% agreement for cardiac, abdominal wall, and gastrointestinal anomalies. Discrepant diagnoses occurred on average in 20% of cases from hospital data and 17% from registry data, and were slightly reduced with the use of diagnoses recorded only in tertiary pediatric hospitals. The second group included 25,893 infants where anomalies were only recorded in hospital data, most commonly skin and unspecified anomalies. Excluding unspecified cases, those only diagnosed at the birth admission and restricting to surgical procedures reduced over-reporting by up to 96%., Conclusions: Hospital discharge data provide an acceptable means to ascertain congenital anomalies, but with variable accuracy for different anomalies. Application of specific conditions and limited to surgical procedures improves the utility of using hospital discharge data to ascertain congenital anomalies., (© 2021 Wiley Periodicals LLC.)

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)., (© 2020 Mac Keith Press.)

Aim: To describe the major congenital anomalies present in children with postneonatally acquired cerebral palsy (CP), and to compare clinical outcomes and cause of postneonatally acquired CP between children with and without anomalies., Method: Data were linked between total population CP and congenital anomaly registers in five European and three Australian regions for children born 1991 to 2009 (n=468 children with postneonatally acquired CP; 255 males, 213 females). Data were pooled and children classified into mutually exclusive categories based on type of congenital anomaly. The proportion of children with congenital anomalies was calculated. Clinical outcomes and cause of postneonatally acquired CP were compared between children with and without anomalies., Results: Major congenital anomalies were reported in 25.6% (95% confidence interval [CI] 21.7-29.9) of children with postneonatally acquired CP. Cardiac anomalies, often severe, were common and present in 14.5% of children with postneonatally acquired CP. Clinical outcomes were not more severe in children with congenital anomalies than those without anomalies. Cause of postneonatally acquired CP differed with the presence of congenital anomalies, with cerebrovascular accidents predominating in the anomaly group. Congenital anomalies were likely associated with cause of postneonatally acquired CP in 77% of children with anomalies., Interpretation: In this large, international study of children with postneonatally acquired CP, congenital anomalies (particularly cardiac anomalies) were common. Future research should determine specific causal pathways to postneonatally acquired CP that include congenital anomalies to identify opportunities for prevention., What This Paper Adds: One-quarter of children with postneonatally acquired cerebral palsy (CP) have a major congenital anomaly. Cardiac anomalies, often severe, are the most common anomalies. Causes of postneonatally acquired CP differ between children with and without congenital anomalies., (© 2021 Mac Keith Press.)

Congenital anomalies are a strong risk factor for cerebral palsy, particularly for children born at term. This systematic review aimed to address gaps in our understanding of the association between congenital anomalies and cerebral palsy. Eight population-based studies (n = 10 081) were identified. Congenital anomalies were reported in 12% to 32% of children with pre/perinatal brain injury and 20% of children with postneonatal brain injury. Variation between studies included study cohort inclusion criteria and the definitions and classification of included anomalies. The most common cerebral anomalies were microcephaly and hydrocephaly, whereas circulatory system anomalies were the most common noncerebral anomalies. The proportion of congenital anomalies was higher in children born at term than preterm. Synthesizing the highest quality data published, this review identified that congenital anomalies are common in cerebral palsy. New collaborative research, addressing sources of variation, is vital to identify pathways to cerebral palsy that include specific congenital anomalies, and explore opportunities for prevention.

Introduction: Cerebral palsy (CP), an umbrella term for non-progressive conditions of cerebral origin resulting in motor impairments, is collectively the most common cause of physical disability in childhood. Cerebral and/or non-cerebral congenital anomalies are present in 15%-40% of children with CP. In order to identify effective prevention strategies for this substantial proportion of CP, a comprehensive understanding of the epidemiology of these congenital anomalies is required. International collaboration is needed, as previous attempts have fallen short due to a lack of power, since the anomalies are individually rare and CP comprises many clinical descriptions. The aim of this study is to generate new knowledge about the aetiologies of CP through a focused investigation into the role of congenital anomalies., Methods and Analysis: This collaborative, population-based data linkage study includes nine geographic regions (six in Europe, three in Australia) served by both congenital anomaly and CP registers. Register data for children with CP (both with and without congenital anomalies) and children with specific congenital anomalies (without CP) born between 1991 and 2009 will be linked and de-identified within each region. The resulting linked data sets will be quality assured, recoded, harmonised and then pooled into one data set. Analysis of the combined data set will include: frequencies/proportions of congenital anomalies and outcomes (type of CP, severity, impairments); descriptive analyses comparing timing of congenital anomaly development and brain injury/abnormality responsible for CP; ORs to calculate the odds of CP following a specific congenital anomaly; and identification of anomalies on causal pathways to CP., Ethics and Dissemination: Ethics approval for this collaborative study, The Comprehensive CA-CP Study, has been obtained from the Cerebral Palsy Alliance Human Research Ethics Committee (EC00402). Study findings will be disseminated at conferences and published in peer-reviewed journals, and recommendations will be made regarding the collection and classification of congenital anomaly data by CP registers., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2018. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.)

Proportions of cases of cerebral palsy (CP) with congenital anomalies recorded in Australian CP registers range from 15% to 40%. The anomalies seen in CP are extremely variable. We have identified that CP registers often do not have quality data on congenital anomalies, necessitating linkage with congenital anomaly registers. However, a lack of unified processes and definitions in congenital anomaly registers and data collections means that linkages are complex, need to be carefully planned, and limitations acknowledged. Historically in CP research, congenital anomalies have been classified by International Classification of Disease codes, then combined into brain and other major and minor anomalies. Systems have been developed to classify congenital anomalies into aetiologically related groups, but such a classification has yet to be trialled in CP. It is anticipated that primary prevention of a small proportion of cases of CP is possible through the primary prevention of congenital anomalies, especially those due to teratogens. Owing to the anticipated low prevalence of each subgroup, global collaboration will be required to further these lines of enquiry., (© 2016 The Authors. Developmental Medicine & Child Neurology © 2016 Mac Keith Press.)