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        Research

        The cost of respiratory hospitalizations in children with cerebral palsy

        To establish the burden of respiratory illness in cerebral palsy (CP) on the Western Australian health care system by quantifying the costs of respiratory hospitalizations in children with CP, compared with non-respiratory hospitalizations. ...

        Research

        Adapting a measure of gross motor skills for individuals with CDKL5 deficiency disorder: A psychometric study

        Validated measures capable of demonstrating meaningful interventional change in the CDKL5 deficiency disorder (CDD) are lacking. The study objective was to modify the Rett Syndrome Gross Motor Scale (RSGMS) and evaluate its psychometric properties for individuals with CDD. ...

        Research

        Young adult outcomes following premature birth: A Western Australian experience

        Childhood outcomes following preterm birth are widely published, however long-term adult outcomes are less well described. We aimed to determine the quality of life and burden of co-morbidities experienced by preterm-born young adults in Western Australia. ...

        Research

        The impact for DCD – USA study: The current state of Developmental Coordination Disorder (DCD) in the United States of America

        Developmental Coordination Disorder (DCD) is among the most under-recognized and under-supported disorders worldwide. The aim of this study was to present a preliminary national study that evaluated the unmet needs of children with DCD in the USA using the Impact for DCD survey. ...

        Research

        Use of Neuroimaging to Predict Adverse Developmental Outcomes in High-Risk Infants

        With advances in perinatal care, we have achieved major reductions in mortality in premature and critically ill infants, but they still remain at increased risk of neurodevelopmental disability. In this context, recent advances in neuroimaging are perceived as an addition of significant value to current clinical developmental screening programs. ...

        Research

        The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacy

        Germline pathogenic variants in the RAS/mitogen-activated protein kinase (MAPK) signaling pathway are the molecular cause of RASopathies, a group of clinically overlapping genetic syndromes. ...

        Research

        Hypothesis-driven genome-wide association studies provide novel insights into genetics of reading disabilities

        Reading Disability is often characterized by difficulties in the phonology of the language. While the molecular mechanisms underlying it are largely undetermined, loci are being revealed by genome-wide association studies. ...

        Research

        Respiratory Health Inequities among Children and Young Adults with Cerebral Palsy in Aotearoa New Zealand: A Data Linkage Study

        Respiratory disease is a leading cause of morbidity, mortality, and poor quality of life in children with cerebral palsy (CP). This study describes the prevalence of CP-related respiratory disease and the non-modifiable risk factors for respiratory-related hospital admissions in the Aotearoa New Zealand population. ...

        Research

        Development of prognostic model for preterm birth using machine learning in a population-based cohort of Western Australia births between 1980 and 2015

        Preterm birth is a global public health problem with a significant burden on the individuals affected. The study aimed to extend current research on preterm birth prognostic model development by developing and internally validating models using machine learning classification algorithms and population-based routinely collected data in Western Australia. ...

        Research

        Negative impact of insomnia and daytime sleepiness on quality of life in individuals with the cyclin-dependent kinase-like 5 deficiency disorder

        Cyclin-dependent kinase-like 5 (CDKL5) gene pathogenic variants result in CDKL5 deficiency disorder (CDD). Early onset intractable epilepsy and severe developmental delays are prominent symptoms of CDD. Comorbid sleep disturbances are a major concerning symptom for families. ...

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