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Using ambulatory monitoring to investigate awake breathing irregularities in Rett syndrome in Australian population-based and Italian clinic samples

Helen Jenny Leonard Downs MBChB MPH BApplSci (physio) MSc PhD Principal Research Fellow Head, Child Disability +61 419 956 946 08 6319 1763

Using continuous glucose monitoring to detect early dysglycaemia in children participating in the ENDIA study (Sub Protocol)

Aveni Liz Haynes Davis BA (Hons), MBBChir, MA (Cantab), PhD MBBS FRACP PhD Principal Research Fellow Co-director of Children’s Diabetes Centre

Using PARP inhibitors to radiosensitise medulloblastoma

Raelene Nick Endersby Gottardo BSc (Hons) PhD MBChB FRACP PhD Brainchild Fellow; Co-Head, Brain Tumour Research Head of Paediatric and Adolescent

Using participatory design to create impactful health promotion messages regarding alcohol use in pregnancy

Investigators: Tess Fletcher The overarching aim of this proposed research is to explore the limitations of existing alcohol and pregnancy messages

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.