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Help shape the future of health & medical research in your community

Find out what our communities had to say about the draft Statement on Consumers and Community Involvement in Health and Medical Research.

Rett syndrome and Related Disorders

In this The Kids Research Institute Australia subsite, our Rett syndrome research team manages a national and international database of Rett syndrome.

CDKL5 Publications

Publications from 2017 dating back to 2004 of CDKL5 researchers.

Our Research

We aim to share our research findings with families so that they may better understand Rett syndrome and the future for their family.

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 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.

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.