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        73-84 of 492 results for 'CDKL5'

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        Implementing telehealth support to increase physical activity in girls and women with Rett syndrome-ActivRett: protocol for a waitlist randomised controlled trial

        Individuals with Rett syndrome (RTT) experience impaired gross motor skills, limiting their capacity to engage in physical activities and participation in activities. There is limited evidence of the effectiveness of supported physical activity interventions. This study aims to evaluate the effects of a telehealth-delivered physical activity programme on physical activity, sedentary behaviour and quality of life in RTT. ...

        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

        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

        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

        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

        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

        Validating the rett syndrome gross motor scale

        The Rett Syndrome Gross Motor Scale could be an appropriate measure of gross motor skills in clinical practice and clinical trials ...

        Research

        Family satisfaction following spinal fusion in Rett syndrome

        Families participating in the population-based and longitudinal Australian Rett Syndrome Database whose daughter had undergone spinal fusion provided data on... ...

        Research

        qPCR assay optimisation for a clinical study comparing oral health risk in Rett syndrome

        This study aimed to validate qPCR assays for specific microbiota, for use on dental plaque samples stored on Whatman FTA cards to compare relative oral health risk in Rett syndrome. ...

        Research

        Genotype and sleep independently predict mental health in Rett syndrome: An observational study

        Rett syndrome is a genetically caused neurodevelopmental disorder associated with severe impairments and complex comorbidities. This study examined predictors of anxiety and depression in Rett syndrome, including genotype. ...

        Research

        Expanding the clinical picture of the MECP2 Duplication syndrome

        Perinatal characteristics, early childhood development and medical co-morbidities in MECP2 Duplication syndrome ...

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