Candidate Genes and Cerebral Palsy: A Population-Based Study

Gibson, Catherine; MacLennan, Alastair H.; Dekker, Gustaaf A.; Goldwater, Paul N.; Sullivan, Thomas; Munroe, David J.; Tsang, Shirley; Stewart, Claudia; Nelson, Karin B.

doi:10.1542/peds.2007-3758

Cited by 55 publications

(44 citation statements)

References 40 publications

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“…Recently, it was suggested that erythropoietin improved the outcome after ischaemia (23). A genetic contribution to the risk of CP has been detected by Gibson et al in a population-based study (24), whereas infectious or thrombophilic factors, for example, are highlighted by others (25,26). The origins of CP remain only partially explained, although the description and dating of the lesions are increasingly detailed, mainly due to the advances in neuroimaging (27)(28)(29)(30).…”

Section: Post-neonatal Casesmentioning

confidence: 99%

The changing panorama of cerebral palsy in Sweden. X. Prevalence and origin in the birth‐year period 1999–2002

Himmelmann¹,

Hagberg²,

Uvebrant³

2010

Acta Paediatrica

179

162

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Aim: The aim of the study was to describe the prevalence and origin of cerebral palsy (CP), which is the tenth report from the western Swedish study.Methods: A population-based study covering 85 737 live births in the area in [1999][2000][2001][2002]. Birth characteristics and neuroimaging findings were recorded, prevalence of CP was calculated and aetiology was analysed.Results: CP was found in 186 children. The crude prevalence was 2.18 per 1000 live births. The gestational age-specific prevalence for <28 gestational weeks was 55.6 per 1000 live births, whereas it was 43.7 for 28-31 weeks, 6.1 for 32-36 weeks and 1.43 per 1000 for >36 weeks. There was a female majority among children born at term and a male predominance in children born preterm. Hemiplegia accounted for 38%, diplegia for 32%, tetraplegia for 7%, whereas 17% had dyskinetic CP and 5% ataxia. Neuroimaging showed white-matter lesions in 31% and cortical ⁄ subcortical lesions in 29%. The aetiology was considered to be prenatal in 36%, peri ⁄ neonatal in 42%, whereas it remained unclassified in 21%. Conclusion:The decrease in CP prevalence observed since the 1980s had ceased. An increase in children born at term and in dyskinetic CP was found. In children born before 28 weeks of gestation, the prevalence decreased significantly. White-matter and cortical ⁄ subcortical lesions dominated on neuroimaging. INTRODUCTIONCerebral palsy (CP) is an umbrella term for a group of conditions characterized by a motor impairment due to a malformation or lesion in the immature brain. The most recent definition, put forward by Bax et al. (1), also acknowledges the often accompanying impairments, relating to cognition, communication and sensation, for example, which sometimes over-shadow the motor problems.Since 1971, the epidemiology of CP has been monitored continuously in the health care region of western Sweden (2), and the figures are currently based on data from 1908 children with CP born in 1954-2002. After an increase in prevalence in the 1970s, mostly due to the survival of more children born preterm with a motor impairment, the trend was reversed in the 1980s and we have observed a steadily decreasing trend since then (3). Within the panorama of CP, there has been a decrease in ever more preterm children with spastic diplegia (4), whereas the prevalence of hemiplegia and dyskinetic CP has shown a different pattern. The aim of this study, which is the tenth report on the prevalence and origin of CP from this register, was to describe the prevalence and background of CP in children born in 1999-2002 in a well-defined area of western Sweden. METHODThe study comprised the counties of Vä stra Gö taland, Jö nkö ping and Halland, with a total population of 2.1 million inhabitants and slightly positive net migration. The study covered the birth-year period 1999-2002, in which 85 737 live births were recorded, 216 at <28 completed weeks of gestation, 503 at 28-31 weeks, 4598 at 32-36 weeks and 80 420 at >36 weeks of gestation. Children with CP were included...

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Section: Post-neonatal Casesmentioning

confidence: 99%

The changing panorama of cerebral palsy in Sweden. X. Prevalence and origin in the birth‐year period 1999–2002

Himmelmann¹,

Hagberg²,

Uvebrant³

2010

Acta Paediatrica

179

162

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“…The genetic influences affecting CP have been the subject of much attention in recent years. [10][11][12]20,21 Several genes have been identified as risk factors, and have been categorized as thrombophilic, cytokine, apolipoprotein E and a group related to cardiovascular physiology and the functioning of the immune system. 21 Among the candidate genes, several SNPs of the MTHFR genes have been investigated either in normal populations or CP patients.…”

Section: Discussionmentioning

confidence: 99%

“…6 A mounting body of recent evidence points to genetic influences on the occurrence of CP. This evidence includes familial data, 7 twin studies 8 and specific genetic factors, [9][10][11][12] and indicate that CP may be related to genomic factors, as well as to environmental incursions during brain development.…”

Section: Introductionmentioning

confidence: 97%

Methylenetetrahydrofolate reductase gene polymorphisms and cerebral palsy in Chinese infants

Xiao

Wang

et al. 2010

J Hum Genet

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Genetic polymorphisms of methylenetetrahydrofolate reductase (MTHFR) have been suggested as being associated with cerebral palsy (CP) but the evidence is uncertain. The purpose of this study was to investigate whether MTHFR gene polymorphisms contribute to the development of CP in Chinese infants. For this study, 169 health controls and 159 infants with CP including 43 cases also suffering from mental retardation (MR) were recruited. Genomic DNA was prepared from venous blood and all five single nucleotide polymorphisms in MTHFR (rs4846049, rs1476413, rs1801131, rs1801133 and rs9651118) were genotyped using TaqMan technology. There were no significant differences in allele or genotype frequencies between the CP patients and controls at any of the five genetic polymorphisms. Subgroup analysis found statistically significant difference in allele and genotype frequencies between cases with both CP and MR (CP + MR) compared with both CP-only cases and controls at rs4846049, rs1476413 and rs1801131. The frequencies of the T alleles of rs4846049, rs1476413 and the G allele of rs1801131 were greater in the CP + MR patients than in the CP-only patients and controls. This study provides the first evidence pointing to a MTHFR gene polymorphism as a potential risk factor for CP combined with MR.

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“…Children with CP have a decrease of adaptation resources, first of all, owing to affection of regulatory structures of CNS -hypothalamus, hippocampus and cerebral cortex [17,18].…”

Section: Introductionmentioning

confidence: 99%