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Parent and therapist perspectives on "uptime" activities and participation in Rett syndromePeople with a disability may spend more time sitting and lying (“downtime”) and less time standing and walking (“uptime”). Caregivers and therapists supporting individuals with Rett syndrome were surveyed, aiming to gather insights on how to support participation in “uptime” activities.
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Enablers and barriers in dental attendance in Rett syndrome: an international observational studyIntellectual and developmental disabilities are heterogeneous in aetiology and presentation, and one cannot make assumptions about the oral health barriers of those with Rett syndrome (RTT) based on findings from generic studies. This study investigated caregivers' perceptions regarding access to dental care for those with RTT, and associations of dental treatments received by those with RTT with their caregivers' perceived value of oral health and perception of their own as well as their daughter's dental anxiety.
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Congenital anomalies in children with postneonatally acquired cerebral palsy: an international data linkage studyTo describe the major congenital anomalies present in children with postneonatally acquired cerebral palsy (CP), and to compare clinical outcomes and cause of postneonatally acquired CP between children with and without anomalies.
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Online Health Literacy Resources for People With Intellectual Disability: A Grey Literature Scoping ReviewPeople with intellectual disability experience higher rates of physical and mental health problems than those without intellectual disability. Health literacy includes accessing, understanding, appraising and applying health information. Improving health literacy is associated with better health outcomes. The internet is a primary source of health information for many people. This study aimed to evaluate available online health resources for people with intellectual disability and their families to understand information gaps.
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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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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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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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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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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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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.