Factor V Leiden mutation: a contributory factor for cerebral palsy?

Abstract

Fifty‐seven children with cerebral palsy (CP) and imaging evidence of vascular thrombosis (study group) and 167 children with CP and other imaging finds (control group) were selected. Sixty‐one per cent of the study group were male and 53 (93%) had spastic hemiplegia compared with the control group, of whom 55% were male and 54 (32%) had a diagnosis of spastic hemiplegia. Mean age was 5 years 11 months (SD 5y 1mo) for the study group and 7 years 7 months (SD 4y 7mo) for the control group. Blood spots on Guthrie cards or buccal swabs were used to test both groups and their mothers for the factor V Leiden (fVL) mutation, which predisposes carriers to thrombophilia. Mothers were interviewed to gather antenatal, perinatal, demographic, and socio‐economic data. The frequency of the fVL mutation in children with evidence of vascular thrombosis and their mothers was not statistically different from the frequency in children with CP with other imaging findings and their mothers. The frequency of the fVL mutation was significantly higher than the expected population frequency of 4% in the study group (10.5%, p=0.012) and in mothers of the control group (7.2%, p=0.036).

Leiden V Factor and Spastic Cerebral Palsy in Mexican Children

“…As a conclusion, we can say that for the Mexican mestizo population, Factor V Leiden thrombophilia, and APCR do not show any relevance, as none of the patients, mothers, or controls presented a mutation contrary to what had been described for other populations (Gibson et al, 2003;Kenet and Nowak-Gö ttl, 2006;Nelson 2006;Reid et al, 2006;Gawish 2011); but other risk factors for the development of CP are still relevant.…”

Evaluation of maternal serum folate, vitamin B12, and homocysteine levels andfactor V Leiden, factor II g.20210G>A, and MTHFR variations in prenatallydiagnosed neural tube defects

“…It has been shown previously that genetic thrombophilia causes placental insufficiency resulting in intrauterine growth retardation (29). In addition, it has been reported that mothers with factor V Leiden variation are more prone to having children with fetal ischemia-related conditions such as cerebral palsy or perinatal arterial ischemic stroke (30,31). However, further investigation is needed to show that increased NTD risk for factor V Leiden variation carriers found in this study is not coincidental, and to establish a causal link explaining this relationship.…”

The genomic basis of cerebral palsy: a HuGE systematic literature review

“…Very few studies have examined the contribution of maternal genotype (Reid et al 2006) to cerebral palsy outcome in the infant and given the importance of events such as thromboses and infection within the mother, further study is needed. The origin of the SNPs investigated is also largely un-investigated.…”

“…FVL carriage is reported to be significantly less in Jews than Arabs (P = 0.001) and the authors report that a significant association with cerebral palsy may have been masked by ethnic heterogeneity. Reid et al (2006) report 57 cases of cerebral palsy with imaging evidence of vascular thrombosis. The majority of these cases had hemiplegic cerebral palsy.…”