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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.
Research
Parent-observed thematic data on quality of life in children with autism spectrum disorderParent observations provide an initial framework for understanding quality of life in autism spectrum disorder
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Dedicated paediatric Outpatient Parenteral Antimicrobial Therapy medical support: a pre-post observational studyThe introduction of a formal medical team to Hospital in the Home (HiTH) demonstrated a positive clinical impact on Parenteral Antimicrobial Therapy (OPAT) patients' outcomes.
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Association Between Family Characteristics and the Effect of Timing of Regular Egg Introduction in Infant Egg AllergyA recent systematic review of 5 randomized clinical trials, found that early egg introduction was associated with reduced egg allergy.
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Global, regional, & national burden of rheumatic heart disease, 1990-2015We estimated the global disease prevalence of and mortality due to rheumatic heart disease over a 25-year period