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Showing results for "rett"
Research
Comparing Parental Well-Being and Its Determinants Across Three Different Genetic Disorders Causing Intellectual DisabilityThis cross-sectional study examined parental well-being in caregivers of children with one of three genetic disorders associated with intellectual disability.
Research
Expanding the clinical picture of the MECP2 Duplication syndromePeople with two or more copies of MECP2 gene, located at Xq28, share clinical features and a distinct facial phenotype called MECP2 Duplication syndrome.
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.
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...
Embrace the potential of children with Rett Syndrome by exploring how to plan opportunities for uptime, maximizing their engagement and participation in meaningful activities.
Research
International CDKL5 Disorder DatabaseHelen Jenny Leonard Downs MBChB MPH BApplSci (physio) MSc PhD Principal Research Fellow Program Head, Development and Disability +61 419 956 946 08
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
A brief history of MECP2 duplication syndrome: 20-years of clinical understandingMECP2 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.
News & Events
The InterRett database: Looking back and looking forward. What we have done and can do with your involvement!Click the photo below to download Dr Helen Leonard's online webinar hosted by Rettsyndrome.org.
Research
Leisure participation for school-aged children with Down syndromeLeisure participation for school-aged children with Down syndrome.