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This study used information from international Rett syndrome database to investigate the relationship between clinical characteristics and different mutations.
Using information from the Australian Rett Syndrome database, we coded symptoms according to severity scales and grouped by type and location of mutation.
Therefore, we wanted to compare the features of girls and women with a C-terminal deletion with those with other MECP2 mutations.
We investigated the occurrence of altered pain sensitivity as well as how these altered reactions to pain were observed during daily life.
We compared information on the life expectancy of Dr Rett's original group in 1966 with information in the Australian Rett Syndrome Database.
We investigated the occurrence of different types of hand stereotypies and whether they were more frequent in one hand or the other.
In order to help doctors and families reduce the risk of fractures, we developed clinical guidelines for managing bone health in Rett syndrome.
We are looking for Aboriginal parents who are passionate about lung health to join the Aboriginal Advisory Committee (AAC) for our Kids Easy Breathing Study (KEBS). Research shows 1 in 5 Aboriginal* bubs in hospital for bronchiolitis (a common viral chest infection) later had serious damage to their lungs. The aim of our study is to find out why Aboriginal bubbies are more likely to develop long-term lung sickness.
Midaiah Age 19. Youth advocate, project community member. Research is critical as it informs strategy and helps build a greater