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

Funded Activity Summary

Cerebral palsy is the commonest physical disability in childhood. It has a major impact on individuals and families. In a significant proportion of cases, the cause is unknown so further research is essential to define the reasons for this condition, and thereby develop preventative strategies. Two mutations have been identified that predispose carriers to develop blood clots (called thrombosis). These mutations are the Factor V Leiden mutation and the coagulation gene for prothrombin (also known as the G20210A mutation). If blood clots form in, or travel to the brain (embolism), they can obstruct the blood supply causing damage that may result in cerebral palsy in young children. Our research will investigate both mothers of children with cerebral palsy, and the children themselves. The study of the mothers will determine whether those that are carriers of these mutations are at an increased risk of having children with cerebral palsy. Factors that may precipitate the development of blood clots, such as smoking during pregnancy, will be investigated. The children with cerebral palsy will be studied to determine whether they carry the mutations, and if so, whether they have brain scan evidence of previous blood clots. Children will be tested for the mutation using the blood spot taken routinely early in life. These blood spots are stored on cards (Guthrie cards) and are available for research following parental consent. The mothers will be tested for the mutation by using a saliva sample and will also be interviewed to obtain details of their pregnancies. As a result of this project, useful information will be provided for families and health care providers. It will be established whether these mutations play a role in the genesis of cerebral palsy. In addition, data about possible factors which may increase the risk in carrier mothers, such as smoking, will be provided.

Funded Activity Details

Start Date: 01-01-2001

End Date: 01-01-2002

Funding Scheme: NHMRC Project Grants

Funding Amount: $72,595.00

Funder: National Health and Medical Research Council

Research Topics

ANZSRC Field of Research (FoR)

Paediatrics

ANZSRC Socio-Economic Objective (SEO)

There are no SEO codes available for this funding activity

Other Keywords

Blood coagulation disorders | Cerebral palsy - etiology | Factor V Leiden mutation and the G20210A mutation | Genetic mutations and risk of cerebral palsy | Genetic testing | Guthrie cards PCR | Link between thromboembolism on brain scans and mutations | Maternal predisposing factors for infant cerebral palsy | Risk factors - cerebral palsy

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