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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.

We also wanted to find out whether any particular behaviours were associated with any specific mutation types.

We compared parent/carer-reported physical activities with the number of steps counted by an accelerometer in girls and women with Rett syndrome.

We wanted to find out whether mothers with a child with Rett syndrome who were more physically and mentally healthy had particular characteristics.

This study evaluated sixty-one families' satisfaction following spinal fusion in girls with Rett syndrome.

Research

This study determined the prevalence of cholelithiasis and/or cholecystectomy in Rett syndrome, described gallbladder function in a clinical cohort, and...

Research

This study investigates relationships between methyl-CpG-binding protein 2 gene (MECP2) mutation type and speech-language abilities in girls with Rett syndrome.

Research

The prevalence of hip displacement and spinal deformity in a clinic population of females with Rett syndrome to define implications for screening and management