The Australian cerebral palsy research study - Protocol for a national collaborative study investigating genomic and clinical associations with cerebral palsy
Date
2011
Authors
O'Callaghan, M.
MacLennan, A.
Gibson, C.
McMichael, G.
Haan, E.
Broadbent, J.
Priest, K.
Goldwater, P.
Dekker, G.
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Journal article
Citation
Journal of Paediatrics and Child Health, 2011; 47(3):99-110
Statement of Responsibility
Michael E. O’Callaghan, Alastair H. MacLennan, Catherine S. Gibson, Gai L. McMichael, Eric A. Haan, Jessica Broadbent, Kevin Priest, Paul N. Goldwater, Gustaaf A. Dekker for the Australian Collaborative Cerebral Palsy Research Group
Conference Name
Abstract
Aim: Previous studies have proposed a link between the presence of specific single nucleotide polymorphisms (SNPs) and cerebral palsy and the majority of these associations remain to be confirmed or rejected by prospective studies with sufficient statistical power. Prior studies have also given little attention to the interaction of genomic characteristics and clinical risk factors. Methods: This paper describes the design of a prospective case-control study to test these genetic associations in conjunction with more stringent data collection in respect to clinical features associated with pregnancy, particularly maternal infection. Here we consider the ethical requirements, our hypothesis that genetic susceptibility modifies the risk of cerebral palsy in the presence of perinatal environmental triggers, a priori primary and secondary aims, power calculations, participant recruitment strategies, data linkage, sampling methods of genetic material and subsequent SNP analysis, collection of clinical data and the proposed final statistical analysis.
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© 2010 The Authors. Journal of Paediatrics and Child Health © 2010 Paediatrics and Child Health Division (Royal Australasian College of Physicians)