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        Research

        Play Active physical activity policy intervention and implementation support in early childhood education and care: results from a pragmatic cluster randomised trial

        Policy interventions to increase physical activity in early childhood education and care (ECEC) services are effective in increasing physical activity among young children. However, a large proportion of ECEC services do not have nor implement a physical activity policy. ...

        Research

        How Families Manage the Complex Medical Needs of Their Children with MECP2 Duplication Syndrome

        MECP2 duplication syndrome (MDS) is a rare, X-linked, neurodevelopmental disorder resulting from the duplication of the methyl-CpG-binding protein 2 (MECP2) gene. The clinical features of MDS include severe intellectual disability, global developmental delay, seizures, recurrent respiratory infections, and gastrointestinal problems. The aim of this qualitative study was to explore how the parents of children with MDS manage their child's seizures, recurrent respiratory infections, and gastrointestinal symptoms, and the impact on them as parents. ...

        Research

        Associations Between Hyperphagia, Symptoms of Sleep Breathing Disorder, Behaviour Difficulties and Caregiver Well-Being in Prader-Willi Syndrome: A Preliminary Study

        Prader-Willi syndrome (PWS) is a rare genetic disorder characterised by neurodevelopmental delays, hyperphagia, difficulties with social communication and challenging behaviours. Individuals require intensive supervision from caregivers which may negatively affect caregiver quality of life. This study used data collected in the Australasian PWS Registry to evaluate associations between child behaviours and caregiver mental well-being. ...

        Research

        Gross Motor Profile in Rett Syndrome as Determined by Video Analysis

        This study used video supplemented by parent report data to describe the gross motor profile in females with Rett syndrome (n=99) and to investigate... ...

        Research

        Severity Assessment in CDKL5 Deficiency Disorder

        A severity assessment was rapidly developed with input from multiple stakeholders. Refinement through ongoing validation is required for future clinical trials. ...

        Research

        Relationship between family quality of life and day occupations of young people with Down syndrome

        This study aimed to explore relationships between family quality of life, day occupations and activities of daily living of young persons with Down syndrome. ...

        Research

        Valproate and risk of fracture in Rett syndrome

        This study investigated the relationships between fracture risk and commonly used AEDs in Rett syndrome. ...

        Research

        Early determinants of fractures in Rett syndrome

        The goals were to compare the fracture incidence in Rett syndrome with that in the general population and to investigate the impact of genotype, epilepsy,... ...

        Research

        Rett syndrome: Establishing a novel outcome measure for walking activity in an era of clinical trials for rare disorders

        Rett syndrome is a pervasive neurological disorder with impaired gait as one criterion. ...

        Research

        Clinical guidelines for management of bone health in rett syndrome based on expert consensus and available evidence

        A clinically significant history of fracture in combination with low bone densitometry findings is necessary for a diagnosis of osteoporosis in Rett Syndrome ...

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