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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.
The MECP2 mutations occurring in the severe neurological disorder Rett syndrome are predominantly de novo, with rare familial cases. The aims of this study...
Multiplex ligation-dependent Probe Amplification (MLPA) has become available for the detection of a large deletion on the MECP2 gene.
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.
Imagine your baby is developing normally, then suddenly she starts losing skills. Watch Marlee's story below and find out what researchers are doing.
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.
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