Economic evaluation of health consequences of prenatal methylmercury exposure in France.

BACKGROUND: Evidence of a dose-response relationship between prenatal exposure to methylmercury (MeHg) and neurodevelopmental consequences in terms of IQ reduction, makes it possible to evaluate the economic consequences of MeHg exposures. OBJECTIVE: To perform an economic evaluation of annual national benefits of reduction of the prenatal MeHg exposure in France. METHODS: We used data on hair-Hg concentrations in French women of childbearing age (18-45 years) from a national sample of 126 women and from two studies conducted in coastal regions (n = 161and n = 503). A linear dose response function with a slope of 0.465 IQ point reduction per µg/g increase in hair-Hg concentration was used, along with a log transformation of the exposure scale, where a doubling of exposure was associated with a loss of 1.5 IQ points. The costs calculations utilized an updated estimate of €2008 17,363 per IQ point decrement, with three hypothetical exposure cut-off points (hair-Hg of 0.58, 1.0, and 2.5 µg/g). RESULTS: Because of higher exposure levels of women in coastal communities, the annual economic impacts based on these data were greater than those using the national data, i.e., € 1.62 billion (national), and € 3.02 billion and € 2.51 billion (regional), respectively, with the linear model, and € 5.46 billion (national), and € 9.13 billion and € 8.17 billion (regional), with the log model, for exposures above 0.58 µg/g. CONCLUSIONS: These results emphasize that efforts to reduce MeHg exposures would have high social benefits by preventing the serious and lifelong consequences of neurodevelopmental deficits in children.

Novel mutation in SLC9A6 gene in a patient with Christianson syndrome and retinitis pigmentosum.

Mutations in the SLC9A6 gene cause Christianson syndrome in boys. This X-linked syndrome is characterized by profound mental retardation with autistic behavior, microcephaly, epilepsy, ophthalmoplegia, and ataxia. Progressive cerebellar atrophy with motor regression is a remarkable feature in some patients. We report on a 22year-old male patient with Christianson syndrome carrying the novel p.Gln306X mutation. The infantile phenotype suggested pervasive developmental disorder, then profound mental retardation ensued. In later childhood, progressive cerebellar atrophy was diagnosed on serial brain MRIs and motor regression occurred. Furthermore, ophthalmological evaluations showed a retinitis pigmentosum previously unreported in this condition. We conclude that the natural history of the disease in this patient tends to confirm the degenerative nature of Christianson syndrome, and that retinal degeneration may be part of the condition. Before the onset of degeneration, the syndromic association of severe mental retardation, autistic behavior, external ophthalmoplegia, and facial dysmorphism in male patients is a clue to the diagnosis.