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

Research

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

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...

We developed recommendations to assess and manage issues relating to poor growth and weight gain in Rett syndrome, including consideration of gastrostomy.

We investigated our data from family questionnaires to see how feeding difficulties related to age, the type of MECP2 mutation, and the use of gastrostomy.

We developed a measure of hand function, and then investigated relationships between hand function, type of MECP2 mutation, age and severity of symptoms.

We investigated what parents thought about the ways to manage scoliosis and what they thought they needed to help them better manage their daughter's scoliosis.

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Research

To explore patterns of parafunction, and bruxism, and its relationships with genotype and snoring in individuals with Rett syndrome.

Research

Individuals with Rett syndrome (RTT) experience impaired gross motor skills, limiting their capacity to engage in physical activities and participation in activities. There is limited evidence of the effectiveness of supported physical activity interventions. This study aims to evaluate the effects of a telehealth-delivered physical activity programme on physical activity, sedentary behaviour and quality of life in RTT.