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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.
To examine the prevalence, cumulative incidence, and survival in an Australian cohort with Rett syndrome (RTT).
The aim of this study was to identify characteristics of epilepsy in Rett syndrome (RTT), and relationships between epilepsy and genotype.
Our investigation used the infrastructure of InterRett, established in 2002 with dual aims of encour- aging international collaboration and ascertaining the...
We argue that population-based studies are critical to overcome the selection bias seen in many clinical samples and to identify true variability within a...
This study assessed the functional skills of three girls with RTT aged 35 years before and during participation in a CE programme.
In girls and women with Rett syndrome, we assessed the accuracy of the StepWatch Activity Monitor™ and investigated relationships between daily step counts,...
We describe change in gross motor function over 3 to 4 years for 70 subjects participating in the Australian Rett Syndrome Database
Modifications to diagnostic criteria and introduction of genetic testing have likely affected the pattern and timing of Rett syndrome diagnosis...