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Research

Valproate and risk of fracture in Rett syndrome

This study investigated the relationships between fracture risk and commonly used AEDs in Rett syndrome.

Research

Early determinants of fractures in Rett syndrome

The goals were to compare the fracture incidence in Rett syndrome with that in the general population and to investigate the impact of genotype, epilepsy,...

Research

Lost in translation: translational interference from a recurrent mutation in exon 1 of MECP2

Rett syndrome (RTT) is an X linked neuro-developmental disorder affecting mostly girls. Mutations in the coding region of MECP2 are found in 80% of classic...

Research

Parental perspectives on the communication abilities of their daughters with Rett syndrome

How females with Rett syndrome communicate in everyday life and the barriers and facilitators to successful communication

Research

Clinical guidelines for management of bone health in rett syndrome based on expert consensus and available evidence

A clinically significant history of fracture in combination with low bone densitometry findings is necessary for a diagnosis of osteoporosis in Rett Syndrome

Research

Community participation for girls and women living with Rett syndrome

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

Research

Level of purposeful hand function as a marker of clinical severity in Rett syndrome

We investigated relationships between hand function and genotype and aspects of phenotype in Rett syndrome

Research

Survival with Rett syndrome: comparing Rett's original sample with data from the Australian Rett syndrome Database

Rett syndrome is a severe neurodevelopmental disorder that typically affects females. Little is known about the natural history and survival time of these femal

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.