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Research

Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting predominantly females and associated with variants in the MECP2 gene. Recent success in clinical trials have resulted in an expanded use of the Rett Syndrome Behaviour Questionnaire (RSBQ) for clinical and research purposes.

This study explored relationships between speech and language abilities in girls with Rett syndrome and how they may be affected by the type of genetic mutation

We interviewed 17 parents with a daughter with Rett syndrome to gain their perspectives on how their daughter communicates and barriers.

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

We investigated the factors that may affect the age at diagnosis for girls and woman with Rett syndrome.

For this study, we examined how Rett syndrome characteristics can be affected by X-inactivation for 2 of the common types of mutation - p.R168X and p.T158M.

We used multiplex ligation-dependent probe amplification to examine the MECP2 gene sequences in 149 girls and 1 boy.

Novel findings in relation to genotype

We reviewed literature and RettNet to explore firsthand perspectives of gastrointestinal issues in Rett Syndrome, then developed recommendations with experts.

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