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

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A research collaboration between Australia and Israel has identified a genetic variation that influences the severity of symptoms in Rett syndrome.

Research

Scoliosis is a common clinical manifestation of Rett syndrome, a neurodevelopmental disorder that almost exclusively affects girls.

Research

Rett syndrome (RTT) is a complex neurodevelopmental X-linked disorder associated with severe functional impairments and multiple comorbidities. There is wide variation in the clinical presentation, and because of its unique characteristics, several evaluation tools of clinical severity, behavior, and functional motor abilities have been proposed specifically for it.

Using information provided by the Rett study, we looked at relationships of early development, genetic characteristics and the development of scoliosis.

Novel findings in relation to genotype

Research

The purpose of this work was to revise and clarify 2002 consensus criteria for the diagnosis of RTT in anticipation of treatment trials.

Therefore, we used video data to examine changes in hand function over time. We also investigated what other factors might influence these changes.

Research

Our findings provide additional insight into the early clinical profile of Rett syndrome.

Our study investigated the quality of measurements obtained using the Rett Syndrome Gross Motor Scale.