Skip to content
The Kids Research Institute Australia logo

Search

The conductive environment enhances gross motor function of girls with Rett syndrome. A pilot study

This study assessed the functional skills of three girls with RTT aged 35 years before and during participation in a CE programme.

Gastrointestinal dysmotility in rett syndrome

Through evidence review and the consensus of an expert panel, we developed recommendations for the clinical management of gastroesophageal reflux disease,...

Longitudinal bone mineral content and density in Rett syndrome and their contributing factors

Bone mass and density are low in females with Rett syndrome.

The relationship between MECP2 mutation type and health status and service use trajectories over time in a Rett syndrome population

This study aimed to investigate the trajectories over time of health status and health service use in Rett syndrome by mutation...

Camp 2024

Sibling Camp 2024 photos

Parental perspectives on the communication abilities of their daughters with Rett syndrome

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

Aspects of speech-language abilities are influenced by MECP2 mutation type in girls with Rett syndrome

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

Parental origin of mutations

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

Atypical Presentations

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

Clinical severity and X-chromosome inactivation

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.