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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. ...

        People

        Associate Professor Helen Leonard

        Principal Research Fellow ...

        +61 419 956 946 Email me

        Research snapshots

        Our research covers a broad range of areas from the influence of mutation type on health outcomes to factors impacting on the lives of familes. ...

        Altered attainment of developmental milestones

        Article title Fehr S, Bebbington A, Ellaway C, Rowe P, Leonard H and Downs J 2011, 'Altered attainment of developmental milestones influences the age ...

        Validating the Rett Syndrome Gross Motor Scale

        Article title Downs J, Stahlhut M, Wong K, Syhler B, Bisgaard A-M, Jacoby P, et al. (2016) Validating the Rett Syndrome Gross Motor Scale. PLoS ONE ...

        Early determinants of fractures in Rett syndrome

        Article title Downs J, Bebbington A, Woodhead H, Jacoby P, Jian L, Jefferson A, Leonard H. Early determinants of fractures in Rett syndrome. ...

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

        Article title Downs J, Torode I, Wong K, Ellaway C, Elliott EJ, Izatt MT, Askin GN, McPhee BI, Cundy P, Leonard H. 2016. Surgical fusion of early ...

        Impact of scoliosis surgery on daily living

        Article title Downs, J., Young, D., de Klerk, N., Bebbington, A., Baikie, G., & Leonard, H. (2009). Impact of scoliosis surgery on activities of ...

        Research collaborators

        Australian Collaborators Australian Families and Carers Telethon Kids Institute, Perth Helen Leonard, Carol Bower, Nick de Klerk, Alison Anderson, ...

        Research

        Determinants of quality of life in Rett syndrome: New findings on associations with genotype

        Rett syndrome is a genetically caused neurodevelopmental disorder associated with functional deficits and comorbidities. This study investigated relationships between genotype, functional abilities and comorbidities and quality of life in Rett syndrome. ...

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