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Showing results for "rett"

Parental experiences of scoliosis management

We investigated what parents thought about the ways to manage scoliosis and what they thought they needed to help them better manage their daughter's scoliosis.

Ways to give

What role will you play in creating a brighter and healthier future for our kids?

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.

Research

Resourceful and creative methods are necessary to research rare disorders

Our investigation used the infrastructure of InterRett, established in 2002 with dual aims of encour- aging international collaboration and ascertaining the...

A validation study of a modified Bouchard activity record

We compared parent/carer-reported physical activities with the number of steps counted by an accelerometer in girls and women with Rett syndrome.

AussieRett

The Australian Rett Syndrome Study is based at The Kids Research Institute Australia located in Subiaco, Western Australia. This study was established in 1993.

Family satisfaction with spinal fusion

Twenty-five families of girls who underwent a spinal fusion between 2006-2012 were interviewed to explore the course of their daughter's recovery.

Project websites

These project websites display extended detailed information about specific research areas.

News & Events

Global research for rare disorder

The Kids Research Institute Australia researchers set out on a worldwide search to find out all they could about Rett syndrome, establishing databases and creating awareness.

Research

The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy

The clinical understanding of the CDKL5 disorder remains limited, with most information being derived from small patient groups seen at individual centres.