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        1285-1296 of 1460 results for 'risk factors'

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        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. ...

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        Circulating Epithelial Cell Cytokines Are Associated With Early-Onset Atopic Dermatitis

        Debbie Susan Palmer Prescott D SL BSc BND PhD MBBS BMedSci PhD FRACP Head, Early Life & Life-Course Health Program; Team Lead, Nutrition in Early Life Honorary Research Fellow debbie.palmer@uwa.edu.au susan.prescott@telethonkids.org.au Head, Early ...

        Research

        Normative data for multiple breath washout outcomes in school-aged Caucasian children

        The multiple breath nitrogen washout (N2MBW) technique is increasingly used to assess the degree of ventilation inhomogeneity in school-aged children with lung disease. However, reference values for healthy children are currently not available. ...

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        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. ...

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        Longitudinal Evaluation of the Stability of Hand Function in Rett Syndrome

        We investigated the longitudinal stability of hand function in Rett syndrome and to analyze further the relationships between stability of hand function and genotype, age, and walking ability. Study design: Longitudinal video data of functional abilities of individuals with genetically confirmed Rett syndrome were collected by families of individuals registered with the Australian Rett Syndrome Database. ...

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        Using directed-content analysis to identify a framework for understanding quality of life in adults with Rett syndrome

        Rett syndrome (RTT) is a rare neurodevelopmental disorder mainly affecting females and is caused by a mutation in the MECP2 gene. Recent research identified the domains of quality of life (QOL) important for children with RTT but there has been no investigation of domains important for adults. This qualitative study explored QOL in adults with RTT and compared domains with those previously identified for children. ...

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        Oral health education and promotion in special needs children: Systematic review and meta-analysis

        To review the effectiveness of oral health education and oral health promotion interventions for children and adolescents with intellectual and developmental disabilities (IDD), in ensuring optimal gingival health, caries experience and oral health-related quality of life, compared to no interventions or alternative interventions. ...

        Research

        Assisted Reproductive Technologies

        Assisted reproductive technologies (ART) cover a range of methods used to help couples with fertility problems achieve pregnancy, including in-vitro fertilisation (IVF). ...

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        Change in Gross Motor Abilities of Girls and Women With Rett Syndrome Over a 3- to 4-Year Period

        We describe change in gross motor function over 3 to 4 years for 70 subjects participating in the Australian Rett Syndrome Database ...

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        Golden Age of Medicine 2.0: Lifestyle Medicine and Planetary Health Prioritized

        We emphasize that barriers to planetary health and the clinical application of lifestyle medicine are maintaining an unhealthy status quo ...

        Research

        Disability "In-Justice": Benefits and Challenges of "Yarning" With Young People Undergoing Diagnostic Assessment for Fetal Alcohol Spectrum Disorder in Youth Detention

        We report the findings from a qualitative study that took place alongside a fetal alcohol spectrum disorder (FASD) prevalence study among detainees in Australia ...

        Research

        Western Australian Children’s Diabetes Database

        Liz Tim Helen Davis Jones Clapin EA TW HF MBBS FRACP PhD MBBS DCH FRACP MD BSc GradDipComp MPH Head, Chronic & Severe Diseases Research Focus Area; Clinical Lead, Diabetes and Obesity Research Co-head, Diabetes and Obesity Research Project Manager, ...

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