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        The diagnosis of autism in a female: could it be Rett syndrome?

        The aims of this study were to compare the early and subsequent clinical courses of female subjects with Rett syndrome categorised by whether... ...

        Research

        Development of a video-based evaluation tool in Rett syndrome

        This paper describes the development of a video-based evaluation tool for use in Rett syndrome (RTT). ...

        Research

        Seizures in Rett syndrome: an overview from a one-year calendar study

        Information on daily seizure occurrence and health service utilization and monthly anti-epileptic drug use was provided on 162 Rett syndrome cases for a... ...

        Research

        Early progressive encephalopathy in boys and MECP2 mutations

        MECP2 mutations mainly occur in females with Rett syndrome. Mutations have been described in 11 boys with progressive encephalopathy... ...

        Research

        NTNG1 mutations are a rare cause of Rett syndrome

        A translocation that disrupted the netrin G1 gene (NTNG1) was recently reported in a patient with the early seizure variant of Rett syndrome (RTT). ...

        Research

        A process and impact evaluation of use of a Powered Wheelchair Standing Device by boys with Duchenne muscular dystrophy

        Graham Jenny Peter Hall Downs Jacoby GL JA PJ BAppSci PhD CRFS FANZSRS FThorSoc FERS BApplSci (physio) MSc PhD BA (Hons) MSc Honorary Research Associate Program Head, Development and Disability Biostatistician 08 6319 1763 Jenny.Downs@ ...

        Research

        Establishing a national platform for the provision of evidence based practice in Prader-Willi 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

        International Rett syndrome study: InterRett

        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

        Multi-site validation of a suite of clinical outcome measures for clinical trial readiness in the CDKL5 Deficiency Disorder

        Helen Jenny Peter Leonard Downs Jacoby HM JA PJ MBChB MPH BApplSci (physio) MSc PhD BA (Hons) MSc Principal Research Fellow Program Head, Development and Disability Biostatistician +61 419 956 946 08 6319 1763 helen.leonard@telethonkids.org.au ...

        Research

        The natural history of the MECP2 Duplication disorder: Australian surveillance and plans for development of an international register

        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

        Investigating the impact of developmental coordination difficulties across home, school, and community settings: Findings from the Australian Impact for DCD survey

        To evaluate the participation difficulties experienced by children with developmental coordination disorder in home, school, and community environments.   ...

        Research

        Sertraline for anxiety in adults with a diagnosis of autism (STRATA): study protocol for a pragmatic, multicentre, double-blind, placebo-controlled randomised controlled trial

        Selective serotonin reuptake inhibitors (SSRIs) are commonly prescribed to manage anxiety in adults with an autism diagnosis. However, their effectiveness and adverse effect profile in the autistic population are not well known. This trial aims to determine the effectiveness and cost-effectiveness of the SSRI sertraline in reducing symptoms of anxiety and improving quality of life in adults with a diagnosis of autism compared with placebo and to quantify any adverse effects.  ...

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