Search

Routines to maximise uptime

Learn about the importance of routines in enhancing uptime for children with Rett Syndrome, nurturing their engagement and fostering meaningful activities.

CDKL5 Publications

Publications from 2017 dating back to 2004 of CDKL5 researchers.

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.

Parental origin of mutations

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

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

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.

Large deletions of the MECP2 gene

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

Determinants of sleep disturbances in Rett syndrome

Novel findings in relation to genotype

Gastrointestinal dysmotility in Rett syndrome

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