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        211-220 of 510 results for 'rett syndrome'

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        Research

        The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy

        The clinical understanding of the CDKL5 disorder remains limited, with most information being derived from small patient groups seen at individual centres. ...

        News & Events

        Global research for rare disorder

        Telethon Kids Institute researchers set out on a worldwide search to find out all they could about Rett syndrome, establishing databases and creating awareness. ...

        People

        Professor Jenny Downs

        Head, Child Disability ...

        08 6319 1763 Email me

        Planning opportunities for uptime

        Step 1. Assess what activities could be possible Step 2. Understand why the uptime activities are important for the person Step 3. Set your goals ...

        Research

        Health conditions and their impact among adolescents and young adults with down syndrome

        The aim of this study was to examine the prevalence of medical conditions and use of health services among young adults with Down syndrome and describe the... ...

        Research

        Admissions in Children with Down Syndrome: Experience of a Population-Based Cohort Followed from Birth

        This study describes patterns of hospitalisations for children and young people with Down syndrome in Western Australia. ...

        News & Events

        MECP2 duplication syndrome in the news

        Our own Dr Helen Leonard was recently featured on Today Tonight. MECP2 duplication syndrome, which more frequently affects boys, is one of the Rett syndrome... ...

        Research

        InterRett, a model for international data collection in a rare genetic disorder

        This study compared socio-demographic, clinical and genetic characteristics of the international database, InterRett, and the population-based Australian... ...

        Research

        Hospitalisation for oral health-related conditions in children with intellectual disability in Western Australia: a population-based cohort study

        Helen Leonard HM MBChB MPH Principal Research Fellow +61 419 956 946 helen.leonard@telethonkids.org.au Principal Research Fellow Areas of research ...

        Research

        Parent-reported health-related quality of life of children with Down syndrome: A descriptive study

        To describe health-related quality of life of Australian children and adolescents with Down syndrome and compare it with norm-referenced data. ...

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