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Research

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

We investigated the impact of spinal fusion on survival and risk of severe lower respiratory tract infection in Rett syndrome.

Research

Resourceful and creative methods are necessary to research rare disorders

Our investigation used the infrastructure of InterRett, established in 2002 with dual aims of encour- aging international collaboration and ascertaining the...

Research

Using a large international sample to investigate epilepsy in Rett syndrome

The aim of this study was to identify characteristics of epilepsy in Rett syndrome (RTT), and relationships between epilepsy and genotype.

Research

Assessment and management of nutrition and growth in rett syndrome

We developed recommendations for the clinical management of poor growth and weight gain in Rett syndrome through evidence review and the consensus of an...

Research

The conductive environment enhances gross motor function of girls with Rett syndrome. A pilot study

This study assessed the functional skills of three girls with RTT aged 35 years before and during participation in a CE programme.

Research

Trends in the diagnosis of Rett syndrome in Australia

Modifications to diagnostic criteria and introduction of genetic testing have likely affected the pattern and timing of Rett syndrome diagnosis...

Research

Longitudinal hand function in Rett syndrome

Loss of hand function is a core feature of Rett syndrome. This article describes longitudinal hand function at 3 time points for 72 subjects participating...

Research

Impact of scoliosis surgery on activities of daily living in females with Rett syndrome

Scoliosis is a common orthopaedic complication of Rett syndrome, and surgery is commonly used to reduce asymmetry in cases with severe scoliosis.

Research

Predictors of seizure onset in Rett syndrome

Information on presence and age at onset of seizures, perinatal and developmental history, and genetic status was abstracted on 275 cases in the Australian...