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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.
Loss of hand function is a core feature of Rett syndrome. This article describes longitudinal hand function at 3 time points for 72 subjects participating...
The purpose of this work was to revise and clarify 2002 consensus criteria for the diagnosis of RTT in anticipation of treatment trials.
Information on presence and age at onset of seizures, perinatal and developmental history, and genetic status was abstracted on 275 cases in the Australian...
Scoliosis is a common clinical manifestation of Rett syndrome, a neurodevelopmental disorder that almost exclusively affects girls.
A research collaboration between Australia and Israel has identified a genetic variation that influences the severity of symptoms in Rett syndrome.
Girls and young women with Rett syndrome are nearly four times more likely to suffer a fracture.
Novel findings in relation to genotype
Therefore, we used video data to examine changes in hand function over time. We also investigated what other factors might influence these changes.
Using information provided by the Rett study, we looked at relationships of early development, genetic characteristics and the development of scoliosis.