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The first comprehensive analysis of the clinical effects of genetic mutations involved in Rett syndrome

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

The internet is emerging as a valuable tool for scientists to gather data for critical research into rare diseases.

Families participating in the population-based and longitudinal Australian Rett Syndrome Database whose daughter had undergone spinal fusion provided data on...

Hand function is particularly affected and we discuss theoretical and practical perspectives for optimising hand function in Rett syndrome.

Participation for girls and women with Rett syndrome could be enhanced by stronger local community supports.

The transition from school to adulthood for young adults with an intellectual disability involves movement from a generally secure and supported school...

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

Intellectual disability affects more than 1.5% of the population of children in developing countries yet we know little about the daily lives and support...

Our findings provide additional insight into the early clinical profile of Rett syndrome.