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Altered attainment of developmental milestones

Regression, including the loss of previously learned skills, such as hand function and communication skills, is one of the most suggestive features of Rett synd

Validating the Rett Syndrome Gross Motor Scale

Our study investigated the quality of measurements obtained using the Rett Syndrome Gross Motor Scale.

Early determinants of fractures in Rett syndrome

We wanted to compare the frequency of fracture episodes, and factors associated with a fracture, in females with Rett syndrome, compared to general population.

Surgical fusion of early onset severe scoliosis increases survival in Rett syndrome: a cohort study

Our study investigated the impacts of spinal fusion on survival and the risk of developing respiratory infections in females with Rett syndrome.

Impact of scoliosis surgery on daily living

We wanted to examine the effects of spinal fusion surgery to treat scoliosis on the functional abilities of girls and women with Rett syndrome.

Research collaborators

The development of research partnerships is a priority for InterRett, with centres or clinicians with access to large numbers of patients with Rett syndrome.

Research

Rett Syndrome: Revised diagnostic criteria and nomenclature

The purpose of this work was to revise and clarify 2002 consensus criteria for the diagnosis of RTT in anticipation of treatment trials.

Research

Linking MECP2 and pain sensitivity: the example of Rett syndrome

This study investigated the nature and prevalence of atypical pain responses in Rett syndrome and their relationships with specific MECP2 mutations.

Research

Stereotypical hand movements in 144 subjects with Rett syndrome from the population-based Australian database

Stereotypic hand movements are a feature of Rett Syndrome but few studies have observed their nature systematically.

Research

InterRett, a model for international data collection in a rare genetic disorder

This study compared socio-demographic, clinical and genetic characteristics of the international database, InterRett, and the population-based Australian...