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Research

Developing sensitive endpoints for respiratory disease progression in children with neuromuscular disease

We hope that through earlier diagnosis and treatment of muscle weakness during sleep, we can prevent future lung failure in children with neuromuscular disorders.

Research

Development and Validation of a Beliefs and Concerns about Screentime Scale

Australian children aged 5 years and younger are exposed to more screen time (e.g., televisions, tables, and smartphones) than ever before.

Research

Development of a universal aftercare model for people who have presented to the emergency department for a suicidal crisis in WA

The Mental Health Commission (MHC) of Western Australia has provided funding to The Kids Research Institute Australia to undertake exploratory research to inform a WA approach to aftercare.

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

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.

Conceptualizing a quality of life framework for girls with Rett syndrome using qualitative methods

We interviewed 21 families with a daughter with Rett Syndrome about aspects of their daughters' lives that were satisfying or challenging to them.

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

This study measured changes in bone density over time using dual energy x-ray absorptiometry (DEXA). Lean tissue or muscle mass (LTM) was also measured.

Using a large international sample to investigate epilepsy in Rett syndrome

Using a large sample size, we investigated the relationships between epilepsy and genotype, and the impact of medications used on seizure management.

Seizures in Rett syndrome: an overview from a one-year calendar study

We collected information on a monthly basis on the patterns of seizures and medications of 162 girls in the Australian Rett Syndrome study over a calendar year.

Publications

Publications from 2016 dating back to 1993 of AussieRett researchers, showing the research work into Rett syndrome and related disorders.