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International award for Rett syndrome research

A Perth medical researcher responsible for major advancements in the understanding of the neurological disorder Rett syndrome has had her efforts rec…

The diagnosis of autism in a female: could it be Rett syndrome?

The aims of this study were to compare the early and subsequent clinical courses of female subjects with Rett syndrome categorised by whether...

Genetic analysis reveals range of Rett syndrome

The first comprehensive analysis of the clinical effects of genetic mutations involved in Rett syndrome

Rett syndrome research reveals high fracture risk

Girls and young women with Rett syndrome are nearly four times more likely to suffer a fracture.

Early determinants of fractures in Rett syndrome

The goals were to compare the fracture incidence in Rett syndrome with that in the general population and to investigate the impact of genotype, epil…

Investigating genotype-phenotype relationships in Rett syndrome using an international data set

This study uses data from a large international database, InterRett, to examine genotype-phenotype relationships and compares these with previous fin…

Feeding experiences and growth status in a Rett syndrome population

Feeding difficulties in Rett syndrome are complex and multifactorial. In this study, we describe the feeding experiences in Rett syndrome and examine…

Sleep problems in Rett syndrome

Sleep problems are thought to occur commonly in Rett syndrome, but there has been little research on prevalence or natural history.

Development of a video-based evaluation tool in Rett syndrome

This paper describes the development of a video-based evaluation tool for use in Rett syndrome (RTT).

Seizures in Rett syndrome: an overview from a one-year calendar study

Information on daily seizure occurrence and health service utilization and monthly anti-epileptic drug use was provided on 162 Rett syndrome cases fo…