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The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacyGermline pathogenic variants in the RAS/mitogen-activated protein kinase (MAPK) signaling pathway are the molecular cause of RASopathies, a group of clinically overlapping genetic syndromes. RASopathies constitute a wide clinical spectrum characterized by distinct facial features, short stature, predisposition to cancer, and variable anomalies in nearly all the major body systems.
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Participation and quality of life among Australian children with developmental coordination disorderChildren with Developmental Coordination Disorder (DCD) experience difficulty in the acquisition and performance of movement skills, threatening participation and quality of life. Environmental influences on participation and quality of life were investigated in children with DCD and their neurotypical peers.
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The NDIS at ten years: designing an equitable scheme for the next decadeJenny Downs BApplSci (physio) MSc PhD Program Head, Development and Disability 08 6319 1763 Jenny.Downs@thekids.org.au Head, Child Disability Areas
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Absence of association between maternal adverse events and long-term gut microbiome outcomes in the Australian autism biobankMaternal immune activation and prenatal maternal stress are well-studied risk factors for psychiatric conditions such as autism and schizophrenia. Animal studies have proposed the gut microbiome as a mechanism underlying this association and have found that risk factor-related gut microbiome alterations persist in the adult offspring.
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Clinically Relevant Genes Identified in Cerebral Palsy Cohorts Following Evaluation of the Clinical Description and Phenotype: A Systematic ReviewA growing number of genes have been identified in individuals with cerebral palsy; however, many of these studies have poor compliance with the cerebral palsy clinical description. This systematic review aimed to assess the quality of the cerebral palsy clinical description/phenotype in cerebral palsy genetic studies published between 2010 and 2024 and report clinically relevant genes based on the quality of the cerebral palsy phenotype.
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Intellectual disability and autism prevalence in Western Australia: impact of the NDISEstimates of the prevalence of intellectual disability or autism spectrum disorder may vary depending on the methodology, geographical location, and sources of ascertainment. The National Disability Insurance Scheme in Australia was introduced progressively from 2016 to provide individualized funding for eligible people with a significant and permanent disability.
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Novel approaches to measuring cognition in individuals with severe to profound functional impairment: A pilot study in SCN2A-related disorderValid clinical outcome assessments with the ability to capture meaningful aspects of neurodevelopment for individuals with neurogenetic conditions associated with profound functional impairments are lacking, yet critical for clinical care and clinical trial readiness.
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“Broken fragments or a breathtaking mosaic”: A mixed methods study of self-reported attributes and aspirations of siblings of individuals with and without neurodevelopmental conditionsSiblings of individuals with neurodevelopmental conditions (NDCs) experience distinct challenges and have unique strengths compared to siblings of individuals without NDCs.
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Stability and change in self-reported risk and resilience factors associated with mental health of siblings of individuals with and without neurodevelopmental conditions over 15 monthsSiblings of individuals with neurodevelopmental conditions (NDCs) are a minority population at higher genetic and environmental risk of poorer neurocognitive and psychosocial outcomes compared to siblings of individuals without NDCs.
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Trends in prenatal diagnosis of congenital anomalies in Western Australia between 1980 and 2020: A population-based studyAdvances in screening and diagnostics have changed the way in which we identify and diagnose congenital anomalies.