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        Research

        A brief history of MECP2 duplication syndrome: 20-years of clinical understanding

        MECP2 duplication syndrome (MDS) is a rare, X-linked, neurodevelopmental disorder caused by a duplication of the methyl-CpG-binding protein 2 (MECP2) gene-a gene in which loss-of-function mutations lead to Rett syndrome (RTT). MDS has an estimated live birth prevalence in males of 1/150,000. ...

        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

        "Capturing the magic": identifying the active ingredients of a physical activity participation intervention for children and youth with disabilities

        This study aimed to define the active ingredients of a participation-focused physical activity intervention for children and youth with disabilities. ...

        Research

        Common data elements to standardize genomics studies in cerebral palsy

        To define clinical common data elements (CDEs) and a mandatory minimum data set (MDS) for genomic studies of cerebral palsy (CP). Method: Candidate data elements were collated following a review of the literature and existing CDEs. ...

        Research

        Australian hospital paediatricians and nurses’ perspectives and practices for influenza vaccine delivery in children with medical comorbidities

        Influenza vaccination of children with medical comorbidities is critical due their increased risks for severe influenza disease. In Australia, hospitals are an avenue for influenza vaccine delivery to children with comorbidities but are not always effectively utilised. Qualitative enquiry sought to ascertainment the barriers and enablers for influenza vaccination recommendation, delivery, and recording of these children at Australian hospitals. ...

        Research

        A longitudinal examination of perinatal testosterone, estradiol and vitamin D as predictors of handedness outcomes in childhood and adolescence

        The developmental origins of handedness remain elusive, though very early emergence suggests individual differences manifesting in utero could play an important role. Prenatal testosterone and Vitamin D exposure are considered, yet findings and interpretations remain equivocal. ...

        Research

        Pain coping tools for children and young adults with a neurodevelopmental disability: A systematic review of measurement properties

        To systematically identify and evaluate the measurement properties of patient-reported outcome measures (PROMs) and observer-reported outcome measures (parent proxy report) of pain coping tools that have been used with children and young adults (aged 0–24 years) with a neurodevelopmental disability. ...

        Research

        Modifiable child and caregiver factors that influence community participation among children with Down syndrome

        To investigate modifiable child and caregiver factors influencing community participation among children with Down syndrome. ...

        Research

        Childhood Systemic Lupus Erythematosus: Presentation, management and long-term outcomes in an Australian cohort

        Systemic Lupus Erythematosus (SLE) is a serious autoimmune disease often resulting in major end-organ damage and increased mortality. Currently, no data exists focussing on the presentation, long-term management and progression of SLE in the Australian paediatric population. ...

        Research

        Psychosocial wellbeing, parental concerns, and familial impact of children with developmental coordination disorder

        Developmental Coordination Disorder (DCD) is a neurodevelopmental condition impacting motor skill acquisition and competence. While previous studies have identified adverse psychosocial outcomes in DCD, they are limited by small or population-screened, community-based samples. ...

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