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

Sue Reid1, Jane Halliday, Michael Ditchfield

  • 1Child Development and Rehabilitation, Murdoch Childrens Research Institute, Australia. sue.reid@mcri.edu.au

Developmental Medicine and Child Neurology
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The factor V Leiden (fVL) mutation was not significantly more common in children with cerebral palsy (CP) and vascular thrombosis compared to controls. However, fVL mutation rates were elevated in both study and control groups compared to the general population.

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Area of Science:

  • Pediatric Neurology
  • Genetics
  • Thrombophilia

Background:

  • Cerebral palsy (CP) is a common childhood neurological disorder.
  • Vascular thrombosis is a potential complication in children with CP.
  • The factor V Leiden (fVL) mutation is a known genetic risk factor for thrombophilia.

Purpose of the Study:

  • To investigate the association between the factor V Leiden (fVL) mutation and vascular thrombosis in children with cerebral palsy (CP).
  • To compare the frequency of the fVL mutation in children with CP and thrombosis versus those with CP and other findings.

Main Methods:

  • Case-control study involving children with CP and vascular thrombosis (study group) and children with CP and other imaging findings (control group).
  • Genetic testing for the factor V Leiden (fVL) mutation using blood spots or buccal swabs.
  • Maternal interviews for antenatal, perinatal, demographic, and socio-economic data collection.

Main Results:

  • The frequency of the fVL mutation was not statistically different between the study group (10.5%) and the control group (32% had spastic hemiplegia).
  • The fVL mutation frequency was significantly higher than the expected population frequency (4%) in the study group (10.5%, p=0.012).
  • The fVL mutation frequency was also significantly higher than the expected population frequency in mothers of the control group (7.2%, p=0.036).

Conclusions:

  • The factor V Leiden mutation does not appear to be a significant risk factor specifically for vascular thrombosis in children with cerebral palsy.
  • Elevated prevalence of the fVL mutation in both CP groups suggests a potential broader genetic predisposition in this population.
  • Further research is needed to understand the complex interplay of genetic and environmental factors in CP and associated thrombotic events.