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Research
Associations between genotype, phenotype and behaviours measured by the Rett syndrome behaviour questionnaire in Rett syndromeRett syndrome (RTT) is a rare neurodevelopmental disorder with developmental impairments, comorbidities, and abnormal behaviours such as hand stereotypies and emotional features. The Rett Syndrome Behaviour Questionnaire (RSBQ) was developed to describe the behavioural and emotional features of RTT.
Research
Early Oral Antibiotic Switch in Staphylococcus aureus Bacteraemia: The Staphylococcus aureus Network Adaptive Platform (SNAP) Trial Early Oral Switch ProtocolStaphylococcus aureus bloodstream infection is traditionally treated with at least 2 weeks of intravenous antibiotics in adults, 3-7 days in children, and often longer for those with complicated disease. The current practice of treating S. aureus bacteremia with prolonged IV antibiotics (rather than oral antibiotics) is based on historical observational research and expert opinion. Prolonged IV antibiotic therapy has significant disadvantages for patients and healthcare systems, and there is growing interest in whether a switch to oral antibiotics following an initial period of IV therapy is a safe alternative for clinically stable patients.
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Growth patterns in individuals with CDKL5 deficiency disorderAim: To compare growth in individuals with cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder with population norms and to investigate the effect of gastrostomy on growth.
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A Survey of Infectious Diseases and Microbiology Clinicians in Australia and New Zealand About the Management of Staphylococcus aureus BacteremiaSignificant variation in practice, particularly for patients with a severe disease phenotype and antibiotic-resistant profile
News & Events
How much is the right amount of therapy?In this blog, CliniKids Director Professor Andrew Whitehouse and Research Development Manager Sarah Pillar explore one of the most common questions when it comes to support for autistic children - how much is the right amount of therapy?
Research
The phenotype associated with a large deletion on MECP2Multiplex ligation-dependent Probe Amplification (MLPA) has become available for the detection of a large deletion on the MECP2 gene.
Helping families to unlock the mental and physical health benefits of connecting with nature and community through outdoor play - easily, and locally.
Research
Western Australian Child Development Atlas - Phase IDavid Melissa Rebecca Ansell O'Donnell Glauert DipTeach BEd PGD H Science MPhil MPA BPsych (Hons), MPsych, GradDip Ed, PhD BPsych (Hons) PhD Honorary
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Down syndrome or Rett syndrome in the family: Parental reflections on sibling experienceSiblings of children with intellectual disability have unique family experiences, varying by type of disability.
Research
How Families Manage the Complex Medical Needs of Their Children with MECP2 Duplication SyndromeMECP2 duplication syndrome (MDS) is a rare, X-linked, neurodevelopmental disorder resulting from the duplication of the methyl-CpG-binding protein 2 (MECP2) gene. The clinical features of MDS include severe intellectual disability, global developmental delay, seizures, recurrent respiratory infections, and gastrointestinal problems. The aim of this qualitative study was to explore how the parents of children with MDS manage their child's seizures, recurrent respiratory infections, and gastrointestinal symptoms, and the impact on them as parents.