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Research

The aim of this study was to identify characteristics of epilepsy in Rett syndrome (RTT), and relationships between epilepsy and genotype.

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

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

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

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.

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

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.

Read about the management staff of the Children's Diabetes Centre, Dr Charles Czank and Nirubasini Paramalingam.

Our Centre is involved with a wide range of research projects, many involving collaborating with partners to run trials of new technologies and treatments.