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        Research

        The role of voltage-gated sodium channels in high grade glioma

        Emily Terrance Anya Brittany Fletcher Johns Jones Dewdney EF T AJ BD BSc (Hons) MRes PhD BSc MSc PhD BSc, MBSc, PhD Senior Research Fellow Honorary ...

        News & Events

        Multi-million-dollar investment in child health to support vital research

        Four Telethon Kids Institute researchers have received prestigious fellowships and four significant cohort studies led or co-led by Telethon Kids have received key grants under two new funding programs supported by the State Government’s Future Health Research and Innovation (FHRI) Fund. ...

        Research

        Data Linkage: Canadian and Australian Perspectives on a Valuable Methodology for Intellectual and Developmental Disability Research

        Building data linkage capabilities, and how linked databases can be used to identify persons with IDD and used for population-based research ...

        Research

        The effect of functioning on Quality of Life Inventory-Disability measured quality of life is not mediated or moderated by parental psychological distress

        The measurement of quality of life (QOL) in children with intellectual disability often relies upon proxy report via caregivers. The current study investigated whether caregiver psychological distress mediates or moderates the effects of impairment on their ratings of QOL in children with intellectual disability. ...

        Research

        Validating the Communication and Symbolic Behavior Scales–Developmental Profile Infant–Toddler Checklist (CSBS–DP ITC) Beyond Infancy in the CDKL5 Deficiency Disorder

        CDKL5 deficiency disorder (CDD) results in early-onset epilepsy and lifelong cognitive and motor impairments. With no validated measure for communication in CDD, this study evaluated the psychometric properties of the Communication and Symbolic Behavior Scales-Developmental Profile Infant Toddler Checklist. ...

        Research

        Modelling quality of life in children with intellectual disability using regression trees

        To identify factors associated with quality of life (QoL) in children with intellectual disability. We aimed to identify patterns of association not observable in previous hypothesis-driven regression modelling using the same data set from a cross-sectional observational study. ...

        Research

        Establishing a national platform for the provision of evidence based practice in Prader-Willi syndrome

        Helen Jenny Leonard Downs HM JA MBChB MPH BApplSci (physio) MSc PhD Principal Research Fellow Program Head, Development and Disability +61 419 956 ...

        Research

        The natural history of the MECP2 Duplication disorder: Australian surveillance and plans for development of an international register

        Helen Jenny Leonard Downs HM JA MBChB MPH BApplSci (physio) MSc PhD Principal Research Fellow Program Head, Development and Disability +61 419 956 ...

        News & Events

        BCG vaccine does not protect against COVID-19 in healthcare workers

        A world-leading international trial examining the immune boosting benefits of the tuberculosis vaccine, BCG, has found it does not protect healthcare workers against COVID-19. ...

        Research

        Community participation for girls and women living with Rett syndrome

        This paper aimed to describe the relationships between level of impairment and participation in community activities for girls and women with Rett syndrome. ...

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