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        Research

        Can Wearable Inertial Measurement Units Be Used to Measure Sleep Biomechanics? Establishing Initial Feasibility and Validity

        Wearable motion sensors, specifically, Inertial Measurement Units, are useful tools for the assessment of orientation and movement during sleep. The DOTs platform (Xsens, Enschede, The Netherlands) has shown promise for this purpose. This pilot study aimed to assess its feasibility and validity for recording sleep biomechanics. ...

        Research

        Using a trauma informed practice framework to enhance understanding of and identify support strategies for behavioural difficulties in young people with Prader-Willi syndrome

        Behavioural support for young people with Prader-Willi syndrome (PWS) is necessary in home and school environments. The Trauma Informed Practice (TIP) framework has been used to support young people with complex behavioural needs in school settings. To identify parent and professional perspectives on behavioural challenges experienced by young people with PWS and strategies for supports, to inform understanding of how they are aligned with the TIP framework. ...

        Research

        Description of Total Population Hospital Admissions for Treacher Collins Syndrome in Australia

        To describe patterns and demographic characteristics of total-population hospital admissions with a diagnosis of Treacher Collins syndrome (TCS) in Australia. ...

        Research

        Evaluating the Extent of Clinical Uncertainty Among Treatment Options for Patients with Early-Onset Scoliosis

        The objective of this study was to evaluate areas of clinical uncertainty among pediatric spine surgeons regarding the treatment of early-onset scoliosis. ...

        Research

        Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families

        Epilepsy and mental retardation limited to females (EFMR) is an intriguing X-linked disorder affecting heterozygous females and sparing hemizygous males. ...

        Research

        Rare childhood diseases: how should we respond?

        Paradoxically, rare diseases are common, collectively affecting 6-10% of the population and have a huge impact on patients and families, health services,... ...

        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

        Multi-site validation of a suite of clinical outcome measures for clinical trial readiness in the CDKL5 Deficiency Disorder

        Helen Jenny Peter Leonard Downs Jacoby HM JA PJ MBChB MPH BApplSci (physio) MSc PhD BA (Hons) MSc Principal Research Fellow Program Head, ...

        Research

        Charting developmental trajectories from 12 to 36 months and associated early risk and protective factors

        To investigate developmental trajectories in early childhood and predictors of class assignment. ...

        Research

        Growth patterns in individuals with CDKL5 deficiency disorder

        Aim: 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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