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Thinking big to tackle kids’ brain developmentIf there’s one thing modern researchers and health professionals now understand, it’s that for so many diseases and conditions affecting children and adolescents, early intervention is crucial.
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Video: One brave little girl's battle with Rett syndromeImagine your baby is developing normally, then suddenly she starts losing skills. Watch Marlee's story below and find out what researchers are doing.
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International award for Rett syndrome researchA Perth medical researcher responsible for major advancements in the understanding of the neurological disorder Rett syndrome has had her efforts recognised
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One of the many reasons for setting up the International CDKL5 Disorder Database was to learn more about this condition.
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.