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Early diagnosis for kids with autismFocussing attention on a child’s first year of life is proving to be a major breakthrough in autism research.
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Changing the focus of cerebral palsyCerebral palsy is not only the result of birth trauma and the lack of oxygen supply during delivery.
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Cystic fibrosis research a Eureka Prize finalistA world-leading cystic fibrosis research program, based at The Kids Research Institute Australia, is a finalist in the 2015 Australian Museum Eureka Prizes.
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Youth Health reportResearch for the Commissioner for Children & Young People seeking the views of >1,000 young people about their experiences accessing/using health services
We hypothesised that MECP2 mutations occur predominantly on the male derived X chromosome.
We wanted to describe the range and variability in the expression of symptoms in girls and women with Rett syndrome.
We compared the symptoms and genetic characteristics of girls with Rett syndrome and both with and without initial diagnosis of autism.
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.
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.