TY - JOUR
T1 - The Australian cerebral palsy research study - Protocol for a national collaborative study investigating genomic and clinical associations with cerebral palsy
AU - O'Callaghan, Michael
AU - MacLennan, Alastair
AU - Gibson, Catherine
AU - McMichael, Gai
AU - Haan, Eric
AU - Broadbent, Jessica
AU - Priest, Kevin
AU - Goldwater, Paul
AU - Dekker, Gustaaf
AU - Australian Collaborative Cereb, null
PY - 2011/3
Y1 - 2011/3
N2 - 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.
AB - 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.
KW - Case-control
KW - Cerebral palsy
KW - Genetic
KW - Single nucleotide polymorphism (SNP)
UR - http://www.scopus.com/inward/record.url?scp=79952753958&partnerID=8YFLogxK
U2 - 10.1111/j.1440-1754.2010.01896.x
DO - 10.1111/j.1440-1754.2010.01896.x
M3 - Article
VL - 47
SP - 99
EP - 110
JO - Journal of Paediatrics and Child Health
JF - Journal of Paediatrics and Child Health
SN - 1034-4810
IS - 3
ER -