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Research

To explore patterns of parafunction, and bruxism, and its relationships with genotype and snoring in individuals with 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.

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

Twenty-five families of girls who underwent a spinal fusion between 2006-2012 were interviewed to explore the course of their daughter's recovery.

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

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

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.

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The first comprehensive analysis of the clinical effects of genetic mutations involved in Rett syndrome

Research

This study assessed factors that could influence equipment and respite services use among Australian families caring for a girl/woman with Rett syndrome and...