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        How Families Manage the Complex Medical Needs of Their Children with MECP2 Duplication Syndrome

        MECP2 duplication syndrome (MDS) is a rare, X-linked, neurodevelopmental disorder resulting from the duplication of the methyl-CpG-binding protein 2 (MECP2) gene. The clinical features of MDS include severe intellectual disability, global developmental delay, seizures, recurrent respiratory infections, and gastrointestinal problems. The aim of this qualitative study was to explore how the parents of children with MDS manage their child's seizures, recurrent respiratory infections, and gastrointestinal symptoms, and the impact on them as parents. ...

        Research

        Severity Assessment in CDKL5 Deficiency Disorder

        A severity assessment was rapidly developed with input from multiple stakeholders. Refinement through ongoing validation is required for future clinical trials. ...

        Research

        Building the repertoire of measures of walking in Rett syndrome

        This study aimed to determine measurement properties of a modified 2MWT and a modified Rett syndrome-specific FMS-RS in Rett syndrome. ...

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        Quantification of walking-based physical activity and sedentary time in individuals with Rett syndrome

        Quantifying individual's with Rett syndrome with the ability to walk, walking based activities and sedentary time, analyzing a variety of influences. ...

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        Seizure variables and their relationship to genotype and functional abilities in the CDKL5 disorder

        Epilepsy is pervasive but not mandatory for the CDKL5 disorder, and genotype and functional abilities were related to seizure frequency ...

        Research

        The phenotype associated with a large deletion on MECP2

        Multiplex ligation-dependent Probe Amplification (MLPA) has become available for the detection of a large deletion on the MECP2 gene. ...

        Research

        Rett Syndrome

        A severe neurodevelopmental disorder mostly affecting girls. ...

        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 +61 419 956 946 08 6319 1763 helen.leonard@telethonkids.org.au Jenny.Downs@telethonkids.org.au Principal Research ...

        Research

        Are preterm birth and intra-uterine growth restriction more common in Western Australian children of immigrant backgrounds? A population based data linkage study

        Our findings illustrate the vulnerabilities of children born to foreign women from low and middle-income countries ...

        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, Development and Disability McCusker Postdoctoral Research Fellow in Type 1 Diabetes +61 419 956 946 08 ...

        Research

        The Early Years Partnership

        Lynne Renee Patricia Hannah Jade Emma Francis Millar Teal Lewis House Bondonno Charlton Mitrou LM RT PL HH JB EC FG BA(Psych honours) PhD BHlthSc(hons), PhD BA (Hons), MPH BComm(hons), MPH BPsych (Hon) BHSc (Food and Nutrition) BEc Senior 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 ...

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