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        Research

        Parental perspectives on the communication abilities of their daughters with Rett syndrome

        This study describes, from the perspective of parents, how females with Rett syndrome communicate in everyday life and the barriers and facilitators to... ...

        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

        Approaches to study the lifelong trajectories of children with neurodevelopmental conditions

        We argue that population-based studies are critical to overcome the selection bias seen in many clinical samples and to identify true variability within a... ...

        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

        Getting creative: Using art-based techniques to identify how arts organizations enhance young people’s well-being

        Mental health concerns present significant challenges for Australian youth. Arts organizations play a key role in promoting preventative mental health strate-gies through enhancing the social and emotional well-being (SEWB) of youth. However, little is known about how the arts promote SEWB and the processes and contexts through which this occurs.  ...

        Research

        Web-Based Self-Compassion Training to Improve the Well-Being of Youth With Chronic Medical Conditions: Randomized Controlled Trial

        Up to one-third of young people live with chronic physical conditions (eg, diabetes, asthma, and autoimmune disease) that frequently involve recurrent pain, fatigue, activity limitations, stigma, and isolation. ...

        Our Locations

        At Telethon Kids Institute, we have a dedicated and diverse team of over 1,300 staff, students and honorary researchers. While our main facility is ...

        Research

        Rett Syndrome Behaviour Questionnaire in Children and Adults With Rett Syndrome: Psychometric Characterization and Revised Factor Structure

        Rett syndrome (RTT) is a severe neurodevelopmental disorder associated with multiple neurobehavioral abnormalities. The Rett Syndrome Behaviour Questionnaire (RSBQ) was developed for pediatric RTT observational studies. Because its application has expanded to adult and interventional studies, we evaluated the RSBQ's psychometric properties in six pediatric (n = 323) and five adult (n = 309) datasets. ...

        Research

        A Comparison of Inertial Measurement Units and Overnight Videography to Assess Sleep Biomechanics

        The assessment of sleep biomechanics (comprising movement and position during sleep) is of interest in a wide variety of clinical and research settings. However, there is no standard method by which sleep biomechanics are measured. This study aimed to (1) compare the intra- and inter-rater reliability of the current clinical standard, manually coded overnight videography, and (2) compare sleep position recorded using overnight videography to sleep position recorded using the XSENS DOT wearable sensor platform. ...

        Research

        SeqNextGen: Translating NextGen Sequencing for the Diagnosis of Developmental Anomalies and Rare Diseases

        Jenefer Timo Carol Sarra Helen Vanessa Blackwell Lassmann Bower Jamieson Leonard Fear JM T C SE HM VF BSc with First Class Honours, PhD, DSc, FMedSci ...

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