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        Research enriching the lives of girls with Rett syndrome

        A program developed by Telethon Kids Institute researcher Dr Jenny Downs has led to dramatic improvements in the functioning of Chinese children with Rett syndrome, and could change the world. ...

        Research

        Does gastrostomy improve the lives of children with severe disability and their families?

        Emma Helen Jenny Peter Glasson Leonard Downs Jacoby EJ HM JA PJ BPsych BSc (Hons) PhD MBChB MPH BApplSci (physio) MSc PhD BA (Hons) MSc Senior ...

        Sibling/Parent Research Advisor

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        Research

        Towards evidence based care for Rett syndrome: a research model to inform management of rare disorders

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

        Research

        Long-term outcomes of symptomatic optic pathway glioma: 32-year experience at a single Western Australian tertiary pediatric oncology center

        Optic pathway gliomas (OPGs) are associated with significant risk of visual and endocrine morbidity, but data on long-term outcomes in symptomatic patients is sparse. This study reviews the clinical course, disease progression, survival outcomes and long-term sequelae in pediatric patients with symptomatic OPGs in our institution over three decades. ...

        Research

        Is sleep captured during a standard daytime EEG sufficient to diagnose Electrical Status Epilepticus in Sleep

        Electrical Status epilepticus of sleep (SES) is an EEG pattern where there is significant activation of epileptiform activity in NREM sleep. A spike wave index (SWI) of > 80-85% is often labelled as typical SES. We aimed to explore if sleep during a standard daytime-EEG, as compared an overnight-EEG, was adequate to diagnose ESES. ...

        Research

        Rett Syndrome Behaviour Questionnaire in Children and Adults With Rett Syndrome: Psychometric Characterization and Revised Factor Structure

        Rett syndrome (RTT) is a severe neurodevelopmental disorder associated with multiple neurobehavioral abnormalities. The Rett Syndrome Behaviour Questionnaire (RSBQ) was developed for pediatric RTT observational studies. Because its application has expanded to adult and interventional studies, we evaluated the RSBQ's psychometric properties in six pediatric (n = 323) and five adult (n = 309) datasets. ...

        Research

        Motor problems in autism: Co-occurrence or feature?

        Motor features of autism have long been acknowledged by clinicians, researchers, and community stakeholders. Current DSM-5 and ICD-11 guidelines allow clinicians to assign a co-occurring diagnosis of developmental [motor] coordination disorder for autistic individuals with significant motor problems. ...

        Research

        Intellectual disabilities and autism among children with congenital heart defects, Western Australia, 1983–2010

        Children with congenital heart defects (CHDs) are at higher risk of developing an intellectual disability. However, severity of intellectual disabilities among this group of children are largely unknown. Our objective was to determine the risk of intellectual disability (ID), ID severity, and autism among children with CHDs. ...

        Research

        Patterns, trends, and factors influencing hospitalizations for craniosynostosis in Western Australia. A population-based study

        Understanding hospital service use among children with a diagnosis of craniosynostosis is important to improve services and outcomes. This study aimed to describe population-level trends, patterns, and factors influencing hospitalizations for craniosynostosis in Western Australia. ...

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