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Research

Implementing telehealth support to increase physical activity in girls and women with Rett syndrome-ActivRett: protocol for a waitlist randomised controlled trial

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.

Research

Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome

There were differences in the presentation of clinical features occurring in the CDKL5 disorder and in Rett syndrome.

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

Parental perspectives on the communication abilities of their daughters with Rett syndrome

Perspectives of parents are integral to the assessment of communication abilities and inform communication interventions for girls and women with Rett Syndrome

Research

"What about us?"- the drawbacks of current bruxism assessment criteria in evaluating vulnerable groups

Jenny Helen Kingsley Downs Leonard Wong BApplSci (physio) MSc PhD MBChB MPH MBBS, MPH, MMedStat Head, Child Disability Principal Research Fellow

People

Professor Jenny Downs

Head, Child Disability

Parental origin of mutations

We hypothesised that MECP2 mutations occur predominantly on the male derived X chromosome.

The range of expression of symptoms in girls and women with Rett syndrome

We wanted to describe the range and variability in the expression of symptoms in girls and women with Rett syndrome.

The diagnosis of autism in a female: could it be Rett syndrome?

We compared the symptoms and genetic characteristics of girls with Rett syndrome and both with and without initial diagnosis of autism.

The Natural History of Scoliosis in Females with Rett Syndrome

We described the occurrence of scoliosis in Rett syndrome, how it develops and how it is influenced by the individual's age, mutation type, and walking ability.