Search

Research

The diagnosis of a rare disorder is dependent on the clinician's particular knowledge and experience, and can be challenging when the presentation is variable.

News & Events

If there’s one thing modern researchers and health professionals now understand, it’s that for so many diseases and conditions affecting children and adolescents, early intervention is crucial.

News & Events

Imagine your baby is developing normally, then suddenly she starts losing skills. Watch Marlee's story below and find out what researchers are doing.

News & Events

A Perth medical researcher responsible for major advancements in the understanding of the neurological disorder Rett syndrome has had her efforts recognised

Sibling Support and Teen Talk Studies form

Research

To develop guidelines for the clinical management of scoliosis in Rett syndrome through evidence review and consensus expert panel opinion.

While individual diseases are rare, as a group, rare diseases are common. Recent estimates suggest that between 3% and 6% of the world’s population are affected by rare disease.

Research

Validated measures capable of demonstrating meaningful interventional change in the CDKL5 deficiency disorder (CDD) are lacking. The study objective was to modify the Rett Syndrome Gross Motor Scale (RSGMS) and evaluate its psychometric properties for individuals with CDD.

Research

Social advantage may provide some protection for dental health in individuals with Rett syndrome

Research

Gastrostomy placement was associated with improvement in BMI in females with Rett syndrome, but its long-term impact on individuals and their families is unclear