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        Research

        Oral parafunction and bruxism in Rett syndrome and associated factors: An observational study

        To explore patterns of parafunction, and bruxism, and its relationships with genotype and snoring in individuals with Rett syndrome. ...

        Research

        Down Syndrome Clinical Trial- BTD-001

        Helen Jenny Peter Leonard Downs Richmond HM JA PC MBChB MPH BApplSci (physio) MSc PhD MBBS MRCP(UK) FRACP Principal Research Fellow Program Head, ...

        Research

        Using ambulatory monitoring to investigate awake breathing irregularities in Rett syndrome in Australian population-based and Italian clinic samples

        Helen Jenny Leonard Downs HM JA MBChB MPH BApplSci (physio) MSc PhD Principal Research Fellow Program Head, Development and Disability +61 419 956 ...

        Research

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

        Perspectives of parents are integral to the assessment of communication abilities and inform communication interventions for girls and women with Rett Syndrome ...

        Research

        Resourceful and creative methods are necessary to research rare disorders

        Our investigation used the infrastructure of InterRett, established in 2002 with dual aims of encour- aging international collaboration and ascertaining the... ...

        Research

        Assessment and management of nutrition and growth in rett syndrome

        We developed recommendations for the clinical management of poor growth and weight gain in Rett syndrome through evidence review and the consensus of an... ...

        Research

        Using a large international sample to investigate epilepsy in Rett syndrome

        The aim of this study was to identify characteristics of epilepsy in Rett syndrome (RTT), and relationships between epilepsy and genotype. ...

        Research

        Trends in the diagnosis of Rett syndrome in Australia

        Modifications to diagnostic criteria and introduction of genetic testing have likely affected the pattern and timing of Rett syndrome diagnosis... ...

        Research

        Longitudinal hand function in Rett syndrome

        Loss of hand function is a core feature of Rett syndrome. This article describes longitudinal hand function at 3 time points for 72 subjects participating... ...

        Research

        Impact of scoliosis surgery on activities of daily living in females with Rett syndrome

        Scoliosis is a common orthopaedic complication of Rett syndrome, and surgery is commonly used to reduce asymmetry in cases with severe scoliosis. ...

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