Search

Research

Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder that is usually associated with mutations in the MECP2 gene.

Research

To examine the prevalence, cumulative incidence, and survival in an Australian cohort with Rett syndrome (RTT).

Improving the lives of children with a disability and their families sits at the core of our team.

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

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 set out to describe the feeding difficulties and nutrition of girls with Rett syndrome and to examine what factors may be influencing their nutrition.

Therefore, we used video data to examine changes in hand function over time. We also investigated what other factors might influence these changes.

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.

Research

The U-PART intervention was found to be feasible and effective in the short term in girls and women with Rett Syndrome

Research

This paper aimed to describe the relationships between level of impairment and participation in community activities for girls and women with Rett syndrome.