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We described the occurrence of scoliosis in Rett syndrome, how it develops and how it is influenced by the individual's age, mutation type, and walking ability.
Twenty-five families of girls who underwent a spinal fusion between 2006-2012 were interviewed to explore the course of their daughter's recovery.
Using information provided by the Rett study, we looked at relationships of early development, genetic characteristics and the development of scoliosis.
Using a large sample size, we investigated the relationships between epilepsy and genotype, and the impact of medications used on seizure management.
Many girls and women with Rett syndrome experience seizures. We wanted to know if there were any factors that influenced the age when seizures first developed.
We collected information on a monthly basis on the patterns of seizures and medications of 162 girls in the Australian Rett Syndrome study over a calendar year.
Publications from 2016 dating back to 1993 of AussieRett researchers, showing the research work into Rett syndrome and related disorders.
Scabies is one of the world’s most prevalent diseases, with approximately 147 million cases at any one time and an estimated annual incidence of 455 million new episodes. Although Group A streptococcal (GAS) pharyngitis has long been implicated in the pathogenesis of acute rheumatic fever (ARF) and subsequent rheumatic heart disease (RHD), impetigo caused by GAS has recently been postulated as a link between scabies and the pathogenesis of ARF.
Surgical intervention is an important treatment modality for advanced rheumatic heart disease (RHD). This study aimed to describe patient characteristics and outcomes from cardiac surgery for RHD in patients referred to the only tertiary paediatric hospital in Western Australia.
Aim: To compare growth in individuals with cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder with population norms and to investigate the effect of gastrostomy on growth.