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Overview of health issues in school-aged children with Down SyndromeOverview of Health Issues in School-aged Children with Down Syndrome
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InterRett, a model for international data collection in a rare genetic disorderThis study compared socio-demographic, clinical and genetic characteristics of the international database, InterRett, and the population-based Australian...
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Respiratory impedance and bronchodilator response in healthy Italian preschool childrenTo define normal values for respiratory resistance (R(rs)) and reactance (X(rs)) and bronchodilator response (BDR) in a population of healthy Italian preschool
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Feeding experiences and growth status in a Rett syndrome populationFeeding difficulties in Rett syndrome are complex and multifactorial. In this study, we describe the feeding experiences in Rett syndrome and examine the...
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Inequalities in healthcare provision for people with severe mental illnessThere are many factors that contribute to the poor physical health of people with severe mental illness (SMI), including lifestyle factors and medication side e
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Correlation between clinical severity in patients with Rett syndromeRett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder that is usually associated with mutations in the MECP2 gene.
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Caudal dysgenesis and sirenomelia-single centre experience suggests common pathogenic basisAbnormally formed lower limbs with varying degrees of fusion are the major feature of sirenomelia whereas maldeveloped lower limbs without fusion are found in a
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Rett syndrome in Australia: a review of the epidemiologyTo examine the prevalence, cumulative incidence, and survival in an Australian cohort with Rett syndrome (RTT).
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Adverse events following botulinum toxin type A treatment in children with cerebral palsyAdverse events following botulinum toxin type A treatment in children with cerebral palsy
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Epidemiology of the cerebral palsiesHalf of the most severe cases of cerebral palsy (CP) survive to adulthood, but because this longevity is relatively recent, there is no empirical experience of
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Fatness, fitness, and increased cardiovascular risk in young childrenTo investigate the relationships between cardiorespiratory fitness and adiposity among young children, and their influence on a comprehensive cardiovascular ris
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Pain coping tools for children and young adults with a neurodevelopmental disability: A systematic review of measurement propertiesTo 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.
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A brief history of MECP2 duplication syndrome: 20-years of clinical understandingMECP2 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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Systematic Review and Meta-analysis: Mental Health in ChildrenThe behavioral phenotype of neurogenetic disorders associated with intellectual disability often includes psychiatric comorbidity. The objectives of this systematic review and meta-analysis were to systematically review the prevalence of psychiatric disorders and symptoms in children and adolescents
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The Risk of Neurodevelopmental Disabilities in Children of Immigrant and Refugee Parents: Current Knowledge and Directions for Future ResearchWe investigated the literature from 2002 to 2016 describing the risk of ASD, intellectual disability and ADHD in children of refugee and immigrant backgrounds.