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        37-48 of 492 results for 'CDKL5'

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        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 ...

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        Clinical and biological progress over 50 years in Rett syndrome

        Review of the clinical and biological progress over 50 years in Rett Syndrome ...

        Research

        Epidemiology of Hospital Admissions for Craniosynostosis in Australia: A Population-Based Study

        To describe trends, age, and sex-specific patterns of population hospital admissions with a diagnosis of craniosynostosis (CS) in Australia. Population data for hospital separations (in-patient) from public and private hospitals (July 1996-June 2018) were obtained from the publicly available Australian Institute of Health and Welfare (AIHW) National Hospital Morbidity Database. ...

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        The trajectories of sleep disturbances in Rett syndrome

        This paper demonstrated that the evolution of sleep problems differed between subgroups of girls and women with Rett syndrome, in part explained by age and... ...

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        Experience of gastrostomy using a quality care framework: The example of rett syndrome

        Gastrostomy assisted the management of feeding difficulties and poor weight gain, and was acceptable to families ...

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        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

        Dental procedures in children with or without intellectual disability and autism spectrum disorder in a hospital setting

        This population-based cohort study investigated dental procedures in the hospital setting in Western Australian children with or without intellectual disability (ID) and/or autism spectrum disorder (ASD) aged up to 18 years. ...

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        Association between craniofacial anomalies, intellectual disability and autism spectrum disorder: Western Australian population-based study

        Accurate knowledge of the relationship between craniofacial anomalies (CFA), intellectual disability (ID) and autism spectrum disorder (ASD) is essential to improve services and outcomes. The aim is to describe the association between CFA, ID and ASD using linked population data. ...

        Research

        Description of Total Population Hospital Admissions for Treacher Collins Syndrome in Australia

        To describe patterns and demographic characteristics of total-population hospital admissions with a diagnosis of Treacher Collins syndrome (TCS) in Australia. ...

        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 ...

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        Leisure participation for school-aged children with Down syndrome

        Leisure participation for school-aged children with Down syndrome. ...

        Research

        Family Functioning in Families with a Child with Down syndrome: A Mixed Methods Approach

        Family Functioning in Families with a Child with Down syndrome: A Mixed Methods Approach... ...

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