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        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

        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

        The conductive environment enhances gross motor function of girls with Rett syndrome. A pilot study

        This study assessed the functional skills of three girls with RTT aged 35 years before and during participation in a CE programme. ...

        Research

        The International Collaboration for Autism Registry Epidemiology (iCARE): Multinational Registry-Based Investigations of Autism Risk Factors and Trends

        iCARE provides a unique, unprecedented resource in autism research that will significantly enhance the ability to detect environmental and genetic... ...

        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

        Surgical fusion of early onset severe scoliosis increases survival in Rett syndrome: A cohort study

        We investigated the impact of spinal fusion on survival and risk of severe lower respiratory tract infection in Rett syndrome. ...

        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 +61 419 956 946 08 6319 1763 helen.leonard@telethonkids.org.au Jenny.Downs@telethonkids.org.au Principal Research ...

        Research

        Multigenerational Familial and Environmental Risk for Autism (MINERvA) Network

        Emma Helen Glasson Leonard EJ HM BPsych BSc (Hons) PhD MBChB MPH Senior Research Fellow Principal Research Fellow +61 419 956 946 emma.glasson@telethonkids.org.au helen.leonard@telethonkids.org.au Senior Research Fellow Principal Research Fellow @ ...

        Research

        The Sibling Project

        The Sibling Project focuses on the wellbeing, relationships and needs of children, adolescents and emerging adults who have a sibling with a developmental disability. ...

        Research

        Intellectual disability and autism prevalence in Western Australia: impact of the NDIS

        Estimates of the prevalence of intellectual disability or autism spectrum disorder may vary depending on the methodology, geographical location, and sources of ascertainment. The National Disability Insurance Scheme in Australia was introduced progressively from 2016 to provide individualized funding for eligible people with a significant and permanent disability. ...

        Research

        Stability and change in self-reported risk and resilience factors associated with mental health of siblings of individuals with and without neurodevelopmental conditions over 15 months

        Siblings of individuals with neurodevelopmental conditions (NDCs) are a minority population at higher genetic and environmental risk of poorer neurocognitive and psychosocial outcomes compared to siblings of individuals without NDCs. ...

        Research

        Ovulation induction and subfertile untreated conception groups offer improved options for interpreting risks associated with ART

        To identify and characterise appropriate comparison groups for population studies of health outcomes in ART-conceived births: ovulation induction (OI), subfertile untreated and fertile natural conceptions. Our secondary objective was to examine whether known risks of pregnancy complications and adverse birth outcomes in ART births are elevated in comparison with subfertile (untreated and OI) conception groups. ...

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