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

There is often delay between onset of Rett syndrome symptoms and its diagnosis, possibly related to symptom presentation or socio-demographic factors.

Authors:
Fehr S, Downs J, Bebbington A, Leonard H

Authors notes:
American Journal of Medical Genetics Part A. 2010; 152A:2535-2542

Keywords:
Rett syndrome symptoms, diagnosis, symptom presentation, socio-demographic factors, hypothesized, atypical presentation, lower socio-economic status, later diagnosis

Abstract:
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.