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Embrace the potential of children with Rett Syndrome by exploring how to plan opportunities for uptime, maximizing their engagement and participation in meaningful activities.
This cross-sectional study examined parental well-being in caregivers of children with one of three genetic disorders associated with intellectual disability.
We compared parent/carer-reported physical activities with the number of steps counted by an accelerometer in girls and women with Rett syndrome.
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.
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.
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...
The ARSS has a Consumer Reference Group to ensure family representation and input into issues relating to the design, management and output of the study.
This study compared socio-demographic, clinical and genetic characteristics of the international database, InterRett, and the population-based Australian...
Perinatal characteristics, early childhood development and medical co-morbidities in MECP2 Duplication syndrome
The clinical understanding of the CDKL5 disorder remains limited, with most information being derived from small patient groups seen at individual centres.