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        Research

        The diagnostic odyssey to Rett syndrome: The experience of an Australian family

        The diagnosis of a rare disorder is dependent on the clinician's particular knowledge and experience, and can be challenging when the presentation is variable. ...

        Research

        Perspectives on hand function in girls and women with Rett syndrome

        Hand function is particularly affected and we discuss theoretical and practical perspectives for optimising hand function in Rett syndrome. ...

        Research

        Guidelines for management of scoliosis in Rett syndrome patients based on expert consensus and clinical evidence

        To develop guidelines for the clinical management of scoliosis in Rett syndrome through evidence review and consensus expert panel opinion. ...

        Research

        Parental experiences of scoliosis management in Rett syndrome

        Scoliosis is the most common orthopaedic complication of Rett syndrome. Parents of affected individuals are vital partners in the clinical management... ...

        Research

        Down syndrome studies; the transition from secondary school to adulthood: Experiences and life outcomes for youth with an intellectual disability and their families

        Helen Jenny Keely Leonard Downs Bebbington HM JA KB MBChB MPH BApplSci (physio) MSc PhD MClinPsych/PhD Principal Research Fellow Program Head, ...

        Areas of research

        Our research funders Our research is funded by the following grants: National Health and Medical Research Council Project Grant Towards ...

        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

        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

        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. ...

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