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Predictors of seizure onset in Rett syndrome

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.

The Natural History of Scoliosis in Females with Rett Syndrome

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.

Research

Alexithymia and eating disorder symptoms: the mediating role of emotion regulation

Preliminary research has found evidence to suggest alexithymia acts as a risk factor for the development of psychopathology symptoms, due to its impairing role on emotion regulation ability. Eating disorder symptoms have been extensively linked to high levels of alexithymia and emotion regulation difficulties, yet little is known about the precise mechanisms behind these interactions.

Research

Comorbidities and confusion: addressing COVID-19 vaccine access and information challenges

Early in the coronavirus disease 2019 (COVID-19) pandemic, evidence emerged that individuals with chronic and immunocompromising conditions faced increased risk of severe infection, including death. The Australian Government and public health authorities prioritised these citizens' access to vaccines, including them in phase 1b of the rollout from 22 March 2021. 

Research

Edaravone for the Treatment of Motor Neurone Disease: A Critical Review of Approved and Alternative Formulations against a Proposed Quality Target Product Profile

Edaravone is one of two main drugs for treating motor neurone disease (MND). This review proposes a specific quality target product profile (QTPP) for edaravone following an appraisal of the issues accounting for the poor clinical uptake of the approved IV and oral liquid edaravone formulations. This is followed by a review of the alternative oral formulations of edaravone described in the published patent and journal literature against the QTPP.

The range of expression of symptoms in girls and women with Rett syndrome

We wanted to describe the range and variability in the expression of symptoms in girls and women with Rett syndrome.

The diagnosis of autism in a female: could it be Rett syndrome?

We compared the symptoms and genetic characteristics of girls with Rett syndrome and both with and without initial diagnosis of autism.

Parental origin of mutations

We hypothesised that MECP2 mutations occur predominantly on the male derived X chromosome.

Research

The respiratory health effects of acute in vivo diesel and biodiesel exhaust in a mouse model

Biodiesel, a renewable diesel fuel that can be created from almost any natural fat or oil, is promoted as a greener and healthier alternative to commercial mineral diesel without the supporting experimental data to back these claims. The aim of this research was to assess the health effects of acute exposure to two types of biodiesel exhaust, or mineral diesel exhaust or air as a control in mice.