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Research

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.

We interviewed 17 parents with a daughter with Rett syndrome to gain their perspectives on how their daughter communicates and barriers.

For this study, we examined how Rett syndrome characteristics can be affected by X-inactivation for 2 of the common types of mutation - p.R168X and p.T158M.

We set out to describe the feeding difficulties and nutrition of girls with Rett syndrome and to examine what factors may be influencing their nutrition.

Therefore, we used video data to examine changes in hand function over time. We also investigated what other factors might influence these changes.

Improving the lives of children with a disability and their families sits at the core of our team.

Research

Gastrostomy placement was associated with improvement in BMI in females with Rett syndrome, but its long-term impact on individuals and their families is unclear

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Social advantage may provide some protection for dental health in individuals with Rett syndrome

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Attention to sleep hygiene remains an important management strategy for sleep problems in Rett syndrome

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Hand function is particularly affected and we discuss theoretical and practical perspectives for optimising hand function in Rett syndrome.