This study measured use and cost of health sector and related services in Rett syndrome and effects of socio-demographic, clinical severity and genet…
The purpose of this work was to revise and clarify 2002 consensus criteria for the diagnosis of RTT in anticipation of treatment trials.
There is often delay between onset of Rett syndrome symptoms and its diagnosis, possibly related to symptom presentation or socio-demographic factors.
Rett syndrome is a severe neurodevelopmental disorder that typically affects females. Little is known about the natural history and survival time of…
We investigated relationships between hand function and genotype and aspects of phenotype in Rett syndrome
This study investigated the relationships between fracture risk and commonly used AEDs in Rett syndrome.
This study investigated the nature and prevalence of atypical pain responses in Rett syndrome and their relationships with specific MECP2 mutations.
This study aimed to compare the phenotype of Rett syndrome cases with C-terminal deletions to that of cases with different MECP2 mutations
Stereotypic hand movements are a feature of Rett Syndrome but few studies have observed their nature systematically.
The prevalence of hip displacement and spinal deformity in a clinic population of females with Rett syndrome to define implications for screening and…