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Development of a video-based evaluation tool in Rett syndromeThis paper describes the development of a video-based evaluation tool for use in Rett syndrome (RTT).
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Seizures in Rett syndrome: an overview from a one-year calendar studyInformation on daily seizure occurrence and health service utilization and monthly anti-epileptic drug use was provided on 162 Rett syndrome cases for a...
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The effects of maternal smoking on early mucosal immunity and sensitization at 12 months of ageIn this study, we examined the effects of maternal smoking as a major adverse exposure in early life, on mucosal immune function and allergen sensitization...
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Early progressive encephalopathy in boys and MECP2 mutationsMECP2 mutations mainly occur in females with Rett syndrome. Mutations have been described in 11 boys with progressive encephalopathy...
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NTNG1 mutations are a rare cause of Rett syndromeA translocation that disrupted the netrin G1 gene (NTNG1) was recently reported in a patient with the early seizure variant of Rett syndrome (RTT).
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Metagenomic Characterisation of the Gut Microbiome and Effect of Complementary Feeding on Bifidobacterium spp. in Australian InfantsComplementary feeding induces dramatic ecological shifts in the infant gut microbiota toward more diverse compositions and functional metabolic capacities, with potential implications for immune and metabolic health. The aim of this study was to examine whether the age at which solid foods are introduced differentially affects the microbiota in predominantly breastfed infants compared with predominantly formula-fed infants.Â
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The causal impact of mental health on tobacco and alcohol consumption: An instrumental variables approachThe reciprocal relationship between psychiatric and substance use disorders is well-known, yet it remains largely unknown whether mental health morbidity causally leads to addictive behaviours. This paper utilises a fixed effects instrumental variables model, which is identified by time-varying sources of plausibly exogenous variations in mental health, and a nationally representative panel dataset from Australia to present robust evidence on the causal impact of mental distress on cigarette smoking and alcohol drinking behaviours.
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Down syndrome or Rett syndrome in the family: Parental reflections on sibling experienceSiblings of children with intellectual disability have unique family experiences, varying by type of disability.
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Do parent-reported early indicators predict later developmental language disorder? A Raine Study investigationDevelopmental language disorder (DLD) is one of the most common neurodevelopmental conditions. Due to variable rates of language growth in children under 5 years, the early identification of children with DLD is challenging. Early indicators are often outlined by speech pathology regulatory bodies and other developmental services as evidence to empower caregivers in the early identification of DLD.
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Impact of Body Composition on the Accuracy of a Medtronic Guardian Continuous Glucose Monitoring SystemContinuous glucose monitoring systems are used in therapeutic decisions for diabetes management, however, the impact of body composition on CGM accuracy is not known. Body composition variables were collected in an observational study designed to determine the accuracy of an investigational Medtronic Guardian™ sensor 3.