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Implementing Telehealth support to increase physical activity in girls and women with Rett syndrome

Helen Jenny Leonard Downs MBChB MPH BApplSci (physio) MSc PhD Principal Research Fellow Head, Child Disability +61 419 956 946 08 6319 1763

Investigating genotype - phenotype relationships in Rett syndrome using an international database

This study used information from international Rett syndrome database to investigate the relationship between clinical characteristics and different mutations.

Experience of gastrostomy using a quality care framework: The example of Rett syndrome

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.

Physical and mental health of mothers caring for a child 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.

Level of purposeful hand function as a marker of clinical severity in Rett syndrome

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

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.

Family satisfaction following spinal fusion in Rett syndrome: a cohort study

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

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

This study describes, from the perspective of parents, how females with Rett syndrome communicate in everyday life and the barriers and facilitators to...

Twenty years of surveillance in Rett syndrome: what does this tell us?

This study aimed to describe overall survival and adult health in those with Rett syndrome.

Pubertal trajectory in females with Rett syndrome: A population-based study

The aim of this study was to describe pubertal development in a population-based cohort of females with Rett syndrome.