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Thrombophilia: a risk factor for cerebral palsy?
Vered Yehezkely-Schildkraut1, Miriam Kutai, Yaser Hugeirat
1Department of Pediatrics B, HaEmek Medical Center, Afula, Israel.
The Israel Medical Association Journal : IMAJ
|December 31, 2005
Summary
The Factor V Leiden mutation, a cause of hereditary thrombophilia, was investigated in children with cerebral palsy (CP). While not statistically significant overall, a trend suggests a potential link between this mutation and CP in certain populations.
Area of Science:
- Genetics
- Neurology
- Pediatrics
Background:
- The etiology of cerebral palsy (CP) is often unknown.
- Hereditary thrombophilia, particularly the Factor V Leiden mutation, has been implicated in CP cases.
Purpose of the Study:
- To determine the prevalence of Factor V Leiden (G1691A), prothrombin (G20210A), and methylenetetrahydrofolate reductase (C677T) mutations in children diagnosed with CP.
- To investigate the association between these thrombophilia-related genetic mutations and the risk of developing CP.
Main Methods:
- A cohort of 61 children with CP (both Jewish and Arab ethnicities) were analyzed.
- Genetic testing was performed to detect the presence of three specific gene mutations linked to thrombophilia.
Main Results:
- Overall, 41% of children with CP and 33% of controls carried at least one mutation (P = 0.348).
- Factor V mutation prevalence was 27.9% in CP patients versus 16.4% in controls (P=0.127).
- In the Arab population subgroup, Factor V Leiden mutation was found in 35% of CP patients compared to 22% of controls (P=0.067), indicating a trend towards significance.
Conclusions:
- While each studied genetic factor showed a relationship with CP, a significant correlation was not established overall.
- The high prevalence of Factor V Leiden in the Arab control group limited the statistical significance.
- Larger-scale studies are recommended to confirm the potential association between Factor V Leiden mutation and cerebral palsy.
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