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        News & Events

        Introducing the Rio Tinto Children's Diabetes Centre, A JDRF Global Centre of Excellence

        Introducing the Rio Tinto Children's Diabetes Centre: A JDRF Global Centre of Excellence ...

        Be involved

        Join us! Get involved with Telethon Kids through providing a donation, volunteering your time, participating in important research, or with a professional commitment to the institute. ...

        Research

        Implementing Telehealth support to increase physical activity in girls and women with Rett syndrome

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

        Research

        Parent and therapist perspectives on "uptime" activities and participation in Rett syndrome

        People with a disability may spend more time sitting and lying (“downtime”) and less time standing and walking (“uptime”). Caregivers and therapists supporting individuals with Rett syndrome were surveyed, aiming to gather insights on how to support participation in “uptime” activities. ...

        Research

        Enablers and barriers in dental attendance in Rett syndrome: an international observational study

        Intellectual and developmental disabilities are heterogeneous in aetiology and presentation, and one cannot make assumptions about the oral health barriers of those with Rett syndrome (RTT) based on findings from generic studies. This study investigated caregivers' perceptions regarding access to dental care for those with RTT, and associations of dental treatments received by those with RTT with their caregivers' perceived value of oral health and perception of their own as well as their daughter's dental anxiety. ...

        Research

        Aspects of speech-language abilities are influenced by MECP2 mutation type in girls with Rett syndrome

        This study investigates relationships between methyl-CpG-binding protein 2 gene (MECP2) mutation type and speech-language abilities in girls with Rett syndrome. ...

        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. ...

        Research

        Altered attainment of developmental milestones influences the age of diagnosis of rett syndrome

        This study describes the attainment of gross developmental milestones and regression, and assesses the relationships between genotype and age at diagnosis. ...

        Research

        Atypical presentations and specific genotypes are associated with a delay in diagnosis in females with Rett syndrome

        There is often delay between onset of Rett syndrome symptoms and its diagnosis, possibly related to symptom presentation or socio-demographic factors. ...

        News & Events

        Aboriginal-led survey to better understand the mental health of young Aboriginal LGBTQA+ people

        A project, lead by Aboriginal and Aboriginal LGBTQA+ researchers examining the mental health of young Aboriginal and Torres Strait Islander LGBTQA+ people, is launching a nation-wide survey, to help drive meaningful change for the community. ...

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