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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.

Review of the clinical and biological progress over 50 years in Rett Syndrome

MECP2 duplication syndrome (MDS) is a rare, X-linked, neurodevelopmental disorder caused by a duplication of the methyl-CpG-binding protein 2 (MECP2) gene-a gene in which loss-of-function mutations lead to Rett syndrome (RTT). MDS has an estimated live birth prevalence in males of 1/150,000.

CDKL5 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.

We 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.

We argue that population-based studies are critical to overcome the selection bias seen in many clinical samples and to identify true variability within a...

We describe change in gross motor function over 3 to 4 years for 70 subjects participating in the Australian Rett Syndrome Database

Modifications to diagnostic criteria and introduction of genetic testing have likely affected the pattern and timing of Rett syndrome diagnosis...

This study aimed to investigate the trajectories over time of health status and health service use in Rett syndrome by mutation...