Atypical presentations and specific genotypes are associated with a delay in diagnosis in females with Rett syndrome.

Abstract excerpt

There is often delay between onset of Rett syndrome symptoms and its diagnosis, possibly related to symptom presentation or socio-demographic factors. We hypothesized that girls with an atypical presentation or whose family had a lower socio-economic status would receive a later diagnosis. Female subjects with a confirmed diagnosis of Rett syndrome were sourced from the Australian Rett Syndrome and InterRett...

Topics

• Adult
• Australia
• Educational Status
• Female
• Genotype
• Humans
• Infant
• Male
• Maternal Age
• Methyl-CpG-Binding Protein 2
• Mutation
• Rett Syndrome