Search
Research
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.
Research
Using a large international sample to investigate epilepsy in Rett syndromeThe aim of this study was to identify characteristics of epilepsy in Rett syndrome (RTT), and relationships between epilepsy and genotype.
Research
Resourceful and creative methods are necessary to research rare disordersOur investigation used the infrastructure of InterRett, established in 2002 with dual aims of encour- aging international collaboration and ascertaining the...
Research
Approaches to study the lifelong trajectories of children with neurodevelopmental conditionsWe argue that population-based studies are critical to overcome the selection bias seen in many clinical samples and to identify true variability within a...
Research
The conductive environment enhances gross motor function of girls with Rett syndrome. A pilot studyThis study assessed the functional skills of three girls with RTT aged 35 years before and during participation in a CE programme.
Research
Initial assessment of the StepWatch Activity Monitor™ to measure walking activity in Rett syndromeIn girls and women with Rett syndrome, we assessed the accuracy of the StepWatch Activity Monitor™ and investigated relationships between daily step counts,...
Research
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
Research
Trends in the diagnosis of Rett syndrome in AustraliaModifications to diagnostic criteria and introduction of genetic testing have likely affected the pattern and timing of Rett syndrome diagnosis...
Research
The relationship between MECP2 mutation type and health status and service use trajectories over time in a Rett syndrome populationThis study aimed to investigate the trajectories over time of health status and health service use in Rett syndrome by mutation...
Research
Measuring use and cost of health sector and related care in a population of girls and young women with Rett syndromeThis study measured use and cost of health sector and related services in Rett syndrome and effects of socio-demographic, clinical severity and genetic factors