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Refining the phenotype of common mutations

Using information from the Australian Rett Syndrome database, we coded symptoms according to severity scales and grouped by type and location of mutation.

Updating the profile of C-terminal MECP2 deletions

Therefore, we wanted to compare the features of girls and women with a C-terminal deletion with those with other MECP2 mutations.

Linking MECP2 and pain sensitivity

We investigated the occurrence of altered pain sensitivity as well as how these altered reactions to pain were observed during daily life.

Survival with Rett syndrome

We compared information on the life expectancy of Dr Rett's original group in 1966 with information in the Australian Rett Syndrome Database.

Stereotypical hand movements

We investigated the occurrence of different types of hand stereotypies and whether they were more frequent in one hand or the other.

Clinical guidelines for management of bone health in Rett syndrome based on expert consensus and available evidence

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 disorder

Parent observations provide an initial framework for understanding quality of life in autism spectrum disorder

Research

Dedicated paediatric Outpatient Parenteral Antimicrobial Therapy medical support: a pre-post observational study

The introduction of a formal medical team to Hospital in the Home (HiTH) demonstrated a positive clinical impact on Parenteral Antimicrobial Therapy (OPAT) patients' outcomes.

Research

Association Between Family Characteristics and the Effect of Timing of Regular Egg Introduction in Infant Egg Allergy

A recent systematic review of 5 randomized clinical trials, found that early egg introduction was associated with reduced egg allergy.

Research

Global, regional, & national burden of rheumatic heart disease, 1990-2015

We estimated the global disease prevalence of and mortality due to rheumatic heart disease over a 25-year period