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        The Rett Syndrome Gross Motor Scale–Dutch Version (RSGMS-NL) Can Reliably Assess Gross Motor Skills in Dutch Individuals with Rett Syndrome

        The Rett Syndrome Gross Motor Scale (RSGMS) is an observational measurement, assessing gross motor skills in individuals with Rett syndrome. A Dutch version is lacking. The current study aims to translate and cross-culturally adapt the original RSMGS to Dutch and assess its inter-rater and intra-rater reliability. ...

        Research

        Evaluation Tools Developed for Rett Syndrome

        Rett syndrome (RTT) is a complex neurodevelopmental X-linked disorder associated with severe functional impairments and multiple comorbidities. There is wide variation in the clinical presentation, and because of its unique characteristics, several evaluation tools of clinical severity, behavior, and functional motor abilities have been proposed specifically for it. ...

        Research

        Spatial and temporal variation in type 1 diabetes incidence in Western Australia from 1991 to 2010: Increased risk at higher latitudes and over time

        This study analysed spatial and historical variation in childhood incidence of type 1 diabetes mellitus (T1DM) among Western Australia's 36 Health Districts... ...

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        Developing sensitive endpoints for respiratory disease progression in children with neuromuscular disease

        We hope that through earlier diagnosis and treatment of muscle weakness during sleep, we can prevent future lung failure in children with neuromuscular disorders. ...

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        Characterising moment-to-moment fluctuation in stress, anxiety and blood glucose levels in adolescents with type 1 diabetes

        Keely Tim Liz Bebbington Jones Davis KB TW EA MClinPsych/PhD MBBS DCH FRACP MD MBBS FRACP PhD McCusker Postdoctoral Research Fellow in Type 1 Diabetes Co-head, Diabetes and Obesity Research Head, Chronic & Severe Diseases Research Focus Area; ...

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        The impact a Mediterranean Diet in the third trimester of pregnancy has on neonatal body fat percentage

        Maternal diet during pregnancy has long been recognised as an important determinant of neonatal outcomes and child development. Infant body composition is a potentially modifiable risk factor for predicting future health and metabolic disease. ...

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        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. ...

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        Orthopaedic issues in Rett Syndrome

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

        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. ...

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        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

        Timeliness of signal detection for adverse events following influenza vaccination in young children: a simulation case study

        Active vaccine safety surveillance leading to rapid detection of a safety signal would likely have resulted in earlier suspension of Fluvax from the vaccination programme ...

        Research

        A Pilot Study Delivering Physiotherapy Support for Rett Syndrome Using a Telehealth Framework Suitable for COVID-19 Lockdown

        Rett syndrome (RTT) is a genetically caused neurodevelopmental disorder associated with severe disability. We assessed the feasibility of a telehealth program supporting gross motor skills in RTT. Five girls with RTT were assessed and a home-based exercise program developed in response to functional goals. Families then participated in monthly Skype sessions for 6 months, guided by a physiotherapist to monitor progress and adjust the program as necessary. ...

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