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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.
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Change in Gross Motor Abilities of Girls and Women With Rett Syndrome Over a 3- to 4-Year PeriodWe describe change in gross motor function over 3 to 4 years for 70 subjects participating in the Australian Rett Syndrome Database
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Longitudinal Evaluation of the Stability of Hand Function in Rett SyndromeWe investigated the longitudinal stability of hand function in Rett syndrome and to analyze further the relationships between stability of hand function and genotype, age, and walking ability. Study design: Longitudinal video data of functional abilities of individuals with genetically confirmed Rett syndrome were collected by families of individuals registered with the Australian Rett Syndrome Database.
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Measurement of Sedentary Behaviors or "downtime" in Rett SyndromeThis study aimed to validate measures of sedentary time in individuals with Rett syndrome.
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CDKL5 deficiency disorder: clinical features, diagnosis, and managementCDKL5 deficiency disorder (CDD) was first identified as a cause of human disease in 2004. Although initially considered a variant of Rett syndrome, CDD is now recognised as an independent disorder and classified as a developmental epileptic encephalopathy.
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Feasibility and Effectiveness of an Individualized 12-Week "Uptime" Participation (U-PART) Intervention in Girls and Women With Rett SyndromeThe U-PART intervention was found to be feasible and effective in the short term in girls and women with Rett Syndrome
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Using directed-content analysis to identify a framework for understanding quality of life in adults with Rett syndromeRett 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.
The Sibling Project focuses on children, adolescents and emerging adults who have a sibling with a disability, investigating their mental health, relationships and quality of life.