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Senior Research Fellow

Down syndrome, also known as Trisomy 21, is one of the most common chromosome abnormalities in humans. It occurs when a child's cells end up with 47 chromosomes instead of the usual 46. Down syndrome causes intellectual disability and other physical and learning challenges.

Rett syndrome (RTT) is a rare neurodevelopmental disorder mainly affecting females and is caused by a mutation in the MECP2 gene. Recent research identified the domains of quality of life (QOL) important for children with RTT but there has been no investigation of domains important for adults. This qualitative study explored QOL in adults with RTT and compared domains with those previously identified for children.

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.

The U-PART intervention was found to be feasible and effective in the short term in girls and women with Rett Syndrome

Our findings suggest that some opportunities do exist for clinicians to help optimise parental well-being

Review of the available dental literature on assessment and management of the oral manifestations of Rett syndrome

This study aimed to validate measures of sedentary time in individuals with Rett syndrome.

This study used qualitative methods to investigate the regaining of mobility in 12 months following fractures in Rett syndrome and parent caregiver experiences.

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