The prevalence and diagnosis of Rett syndrome
Prevalence
In Europe and Canada, the prevalence of Rett syndrome is estimated to be around one in 10 to 000 girls. In France, this represents 25 to 40 new cases each year. It is the leading cause of polyhandicap of genetic origin in France.
Diagnostic
The diagnosis of Rett syndrome is first established by clinical signs using the main symptoms of the disease. a genetic test can confirm the diagnosis. A sample of the child’s blood is then analyzed to identify the presence of a mutation in the MECP2 gene. However, the absence of a mutation is not found (5 to 20%) in girls with clinically typical Rett syndrome. Mutations in other genes could give similar clinical pictures for atypical forms.