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Research

Rett syndrome (RTT) is a complex neurodevelopmental X-linked disorder associated with severe functional impairments and multiple comorbidities. There is wide variation in the clinical presentation, and because of its unique characteristics, several evaluation tools of clinical severity, behavior, and functional motor abilities have been proposed specifically for it.

Research

This study used qualitative methods to investigate the regaining of mobility in 12 months following fractures in Rett syndrome and parent caregiver experiences.

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A research collaboration between Australia and Israel has identified a genetic variation that influences the severity of symptoms in Rett syndrome.

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New guidelines a model for better management of rare conditions

Research

A comprehensive picture of the regulatory regions of the three genes involved in Rett Syndrome

Research

The aim of this study was to describe pubertal development in a population-based cohort of females with Rett syndrome.

Research

This paper demonstrated that the evolution of sleep problems differed between subgroups of girls and women with Rett syndrome, in part explained by age and...

Research

Bone mass and density are low in females with Rett syndrome.

Research

Gastrostomy assisted the management of feeding difficulties and poor weight gain, and was acceptable to families

Research

This study measured use and cost of health sector and related services in Rett syndrome and effects of socio-demographic, clinical severity and genetic factors