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Congenital anomalies in cerebral palsy: where to from here?
Sarah McIntyre1,2, Eve Blair2, Shona Goldsmith1
1Cerebral Palsy Alliance, The University of Sydney, Sydney, NSW, Australia.
Insights
Congenital anomalies are present in 15-40% of cerebral palsy (CP) cases. Improving data linkage between CP and anomaly registers is crucial for understanding and potentially preventing CP, especially for anomalies caused by teratogens.
Area of Science:
- Medical research
- Public health
- Epidemiology
Background:
- 15-40% of cerebral palsy (CP) cases involve congenital anomalies, which are highly variable.
- Existing CP registers often lack comprehensive congenital anomaly data, hindering research.
- Linking CP and congenital anomaly registers is complex due to inconsistent data and definitions.
Purpose of the Study:
- To highlight the need for improved data quality and linkage between cerebral palsy and congenital anomaly registers.
- To explore the potential for primary prevention of CP through the prevention of congenital anomalies.
- To identify challenges and considerations for data linkage and classification of anomalies in CP research.
Main Methods:
- Review of data quality in Australian CP registers regarding congenital anomalies.
- Discussion of historical and potential future classification systems for congenital anomalies in CP.
- Analysis of the complexities and limitations in linking different types of health registers.
Main Results:
- Significant variability in congenital anomalies associated with CP.
- Identified deficiencies in congenital anomaly data within CP registers.
- Complexity in data linkage due to lack of unified processes and definitions across registers.
Conclusions:
- Enhanced data linkage between CP and congenital anomaly registers is essential for accurate research.
- Primary prevention of some CP cases may be achievable by preventing specific congenital anomalies, particularly those linked to teratogens.
- Global collaboration is necessary to study subgroups of CP with congenital anomalies due to their low prevalence.
Abstract:
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.
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