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        133-144 of 390 results for 'rett syndrome'

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        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

        CDKL5 deficiency disorder: clinical features, diagnosis, and management

        CDKL5 deficiency disorder (CDD) was first identified as a cause of human disease in 2004. Although initially considered a variant of Rett syndrome, CDD is now recognised as an independent disorder and classified as a developmental epileptic encephalopathy. ...

        Research

        The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy

        The clinical understanding of the CDKL5 disorder remains limited, with most information being derived from small patient groups seen at individual centres. ...

        Research

        Admissions in Children with Down Syndrome: Experience of a Population-Based Cohort Followed from Birth

        This study describes patterns of hospitalisations for children and young people with Down syndrome in Western Australia. ...

        Research

        Health conditions and their impact among adolescents and young adults with down syndrome

        The aim of this study was to examine the prevalence of medical conditions and use of health services among young adults with Down syndrome and describe the... ...

        Research

        Hospitalisation for oral health-related conditions in children with intellectual disability in Western Australia: a population-based cohort study

        Helen Leonard HM MBChB MPH Principal Research Fellow +61 419 956 946 helen.leonard@telethonkids.org.au Principal Research Fellow Areas of research expertise: Child disability; intellectual disability; autism spectrum disorders; Down syndrome; Rett ...

        Research

        Parent-reported health-related quality of life of children with Down syndrome: A descriptive study

        To describe health-related quality of life of Australian children and adolescents with Down syndrome and compare it with norm-referenced data. ...

        Research

        InterRett, a model for international data collection in a rare genetic disorder

        This study compared socio-demographic, clinical and genetic characteristics of the international database, InterRett, and the population-based Australian... ...

        Research

        Strengths and challenging behaviors in children and adolescents with Prader-Willi syndrome: Two sides to the coin

        Prader-Willi Syndrome (PWS) is a rare genetic disorder associated with emotional/behavioral disturbances. These difficulties are well documented in the literature, but the positive attributes of these individuals are not described. ...

        Research

        Siblings of children with disabilities: challenges and opportunities

        Siblings of children with disabilities: challenges and opportunities ...

        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

        Down Syndrome Clinical Trial- BTD-001

        Helen Jenny Peter Leonard Downs Richmond HM JA PC MBChB MPH BApplSci (physio) MSc PhD MBBS MRCP(UK) FRACP Principal Research Fellow Program Head, Development and Disability Head, Vaccine Trials Group +61 419 956 946 08 6319 1763 helen.leonard@ ...

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