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        Research

        Effects of ganaxolone on non-seizure outcomes in CDKL5 Deficiency Disorder: Double-blind placebo-controlled randomized trial

        CDKL5 deficiency disorder (CDD) is a rare developmental and epileptic encephalopathy. Ganaxolone, a neuroactive steroid, reduces the frequency of major motor seizures in children with CDD. This analysis explored the effect of ganaxolone on non-seizure outcomes.  ...

        Research

        "The problem with running"-Comparing the propulsion strategy of children with Developmental Coordination Disorder and typically developing children

        This study compared strategies of propulsion and power generation at the ankle during late stance/early swing in both walking and running in children with... ...

        Research

        Development of a screening tool to identify safer biodiesels

        Alexander Anthony Larcombe Kicic A A BScEnv (Hons) PhD BSc (Hons) PhD Team Leader, Respiratory Environmental Health Rothwell Family Fellow; Head, ...

        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

        Association of prenatal alcohol exposure with offspring DNA methylation in mammals: a systematic review of the evidence

        Prenatal alcohol exposure is associated with a range of adverse offspring neurodevelopmental outcomes. Several studies suggest that PAE modifies DNA methylation in offspring cells and tissues, providing evidence for a potential mechanistic link to Fetal Alcohol Spectrum Disorder. ...

        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

        Facilitators and Barriers of Participation in “Uptime” Activities in Girls and Women With Rett Syndrome: Perspectives From Parents and Professionals

        This study explored facilitators and barriers to "uptime" (non-sedentary) activities in Danish girls and women with Rett syndrome ...

        Research

        Orthopaedic issues in Rett Syndrome

        This chapter reviews the prevalence, characteristics, and clinical management of orthopedic problems in RTT. ...

        Research

        Optical coherence tomography-based contact indentation for diaphragm mechanics in a mouse model of transforming growth factor alpha induced lung disease

        This study tested the utility of optical coherence tomography-based indentation to assess mechanical properties of respiratory tissues in disease ...

        News & Events

        Future Fund for Medical Research Brings Hope for Better Child Health

        The Telethon Kids Institute has welcomed the Federal Government's commitment to a Medical Research Future Fund to improve the long term health of Australians. ...

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