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        Research

        Lost in translation: translational interference from a recurrent mutation in exon 1 of MECP2

        Rett syndrome (RTT) is an X linked neuro-developmental disorder affecting mostly girls. Mutations in the coding region of MECP2 are found in 80% of classic... ...

        Research

        Influenza vaccination in Western Australian children: Exploring the health benefits and cost savings of increased vaccine coverage in children

        To assess potential benefits and direct healthcare cost savings with expansion of an existing childhood influenza immunisation program, we developed a dynamic transmission model for the state of Western Australia, evaluating increasing coverage in children < 5 years and routinely immunising school-aged children. ...

        Research

        How Well Does the EQ-5D-Y-5L Describe Children With Intellectual Disability?: “There's a Lot More to My Child Than That She Can't Wash or Dress Herself.”

        The EQ-5D-5L is a generic health utility instrument for measuring health-related quality of life (HRQoL), with self-report and proxy report versions for children (EQ-5D-Y-5L). Children with intellectual disability (ID) are a heterogeneous population whose impairments and comorbidities place them at risk of poor HRQoL. This study aimed to describe the content validity and suitability for children with ID of a proxy report version of the EQ-5D-Y-5L as seen by their caregivers. ...

        Research

        What does better look like in individuals with severe neurodevelopmental impairments? A qualitative descriptive study on SCN2A-related developmental and epileptic encephalopathy

        There are limited psychometric data on outcome measures for children with Developmental Epileptic Encephalopathies (DEEs), beyond measuring seizures, and no data to describe meaningful change. This study aimed to explore parent perceptions of important differences in functional abilities that would guide their participation in clinical trials. ...

        Research

        Overweight/obesity and other predictors of gestational diabetes among Aboriginal and non-Aboriginal women in Western Australia

        This population-based study investigated the association of BMI and other predictors with gestational diabetes mellitus among Australian Aboriginal and non-Aboriginal mothers. We conducted a state-wide retrospective cohort study that included all singleton births in Western Australia between 2012 and 2015 using population health datasets linked by the Western Australian Data Linkage Branch. ...

        Research

        Psychometric Properties of the EQ-5D-Y-5L for Children With Intellectual Disability

        The EQ-5D-Y-5L is a generic preference-based measure of health-related quality of life for children. This study aimed to describe the distributional properties, test-retest reliability, and convergent validity of the EQ-5D-Y-5L in children with intellectual disability (ID).  ...

        Research

        Neuropsychological profiles of adolescents sentenced to detention in Western Australia with and without prenatal alcohol exposure

        Youth with prenatal alcohol exposure (PAE) are under-recognised in the justice system, warranting improved identification. This study aimed to compare neuropsychological profiles of adolescents, with and without PAE and identify neuropsychological tasks predictive of PAE-group membership. It was hypothesised that participants with PAE would score significantly lower on neuropsychological tests. ...

        Research

        FDA Patient-Focused Drug Development Guidances: Considerations for Trial Readiness in Rare Developmental and Epileptic Encephalopathies

        Developmental and epileptic encephalopathies (DEE) are rare, often monogenic neurodevelopmental conditions. Most affected individuals have refractory seizures. All have multiple severe impairments which can be as life-limiting as or more limiting than the seizures themselves. Mechanism- and gene-targeted therapies for these individually rare, genetic conditions hold hope for treatment, amelioration of disease expression, and even cure.  ...

        Research

        Shoulder dystocia in babies born to Aboriginal mothers with diabetes: a population-based cohort study, 1998–2015

        Australian Aboriginal and Torres Strait Islander women with diabetes in pregnancy (DIP) are more likely to have glycaemic levels above the target range, and their babies are thus at higher risk of excessive fetal growth. Shoulder dystocia, defined by failure of spontaneous birth of fetal shoulder after birth of the head requiring obstetric maneuvers, is an obstetric emergency that is strongly associated with DIP and fetal size. ...

        Research

        Data Linkage: Canadian and Australian Perspectives on a Valuable Methodology for Intellectual and Developmental Disability Research

        Building data linkage capabilities, and how linked databases can be used to identify persons with IDD and used for population-based research ...

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