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Common mental disorders: missed opportunity for smoking prevention and cessationCommon mental disorders: missed opportunity for smoking prevention and cessation
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Evaluating Early Childhood Education and CareEvaluating Early Childhood Education and Care
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Resting Energy Expenditure and Metabolic Features in Children With Septo-Optic DysplasiaSepto-optic dysplasia (SOD) is a major cause of congenital hypopituitarism and is known to be associated with overweight and obesity in up to 44% of children. Given the role of the hypothalamus in hormonal regulation, we sought to assess the association of resting energy expenditure (REE), appetite and physical activity with SOD.
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Australian children living with rare diseases: health service use and barriers to accessing careChildren with rare diseases experience challenges at home and school and frequently require multi-disciplinary healthcare. We aimed to determine health service utilization by Australian children with rare diseases and barriers to accessing healthcare.
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The role of dendritic cells and regulatory T cells in the regulation of allergic asthmaAirways hyperresponsiveness (AHR) is one of the major clinical features of allergic airways disease including allergic asthma
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The neglect of a child with intellectual disability as reported in Australian news media: A Foucauldian discourse analysisPeople with intellectual disability experience a high risk of being neglected and family members are often identified as the perpetrators. Analysing the media provides insight into public narratives about social problems. A search of Australian newspapers published between 2016 and 2021 identified 27 articles that predominately reported on a single case of familial neglect of an individual with intellectual disability.
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Impact of scoliosis surgery on activities of daily living in females with Rett syndromeScoliosis is a common orthopaedic complication of Rett syndrome, and surgery is commonly used to reduce asymmetry in cases with severe scoliosis.
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Quality of life beyond diagnosis in intellectual disability – Latent profilingTo compare quality of life (QOL) across diagnoses associated with intellectual disability, construct QOL profiles and evaluate membership by diagnostic group, function and comorbidities.
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Stepwise GATA1 and SMC3 mutations alter megakaryocyte differentiation in a Down syndrome leukemia modelAcute megakaryoblastic leukemia of Down syndrome (DS-AMKL) is a model of clonal evolution from a preleukemic transient myeloproliferative disorder requiring both a trisomy 21 (T21) and a GATA1s mutation to a leukemia driven by additional driver mutations.
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Differentiating between childhood communication disorders: Implications for language and psychosocial outcomesDifferentiating between childhood communication disorders: Implications for language and psychosocial outcomes
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Autism and diagnostic substitution: Evidence from a study of adults with a history of developmental language disorderRates of diagnosis of autism have risen since 1980, raising the question of whether some children who previously had other diagnoses are now being diagnosed...
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Clustering of psychosocial symptoms in overweight childrenThe aims of the present study were to (i) examine the relationship between children's degree of adiposity and psychosocial functioning; and (ii) compare patterns of clustering of psychosocial measures between healthy weight and overweight/obese children.
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Interpretation of recent sudden infant death syndrome rates in Western AustraliaData for recent years show a shift away from a classification of 'SIDS' towards a classification of 'unascertainable', particularly for Aboriginal infants.
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Predictors of seizure onset in Rett syndromeInformation on presence and age at onset of seizures, perinatal and developmental history, and genetic status was abstracted on 275 cases in the Australian...
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Achieving cultural safety in genetic counseling for Aboriginal and Torres Strait Islander people in AustraliaGlobally, Indigenous people, including Aboriginal and Torres Strait Islander people in Australia, experience significantly poorer health outcomes than their non-Indigenous counterparts. In part, this can be attributed to the ongoing impacts of colonization, marginalization, and systemic discrimination. In the genomic healthcare era, Indigenous people remain underrepresented in public genetic health services, raising concerns about cultural competency and inclusivity within the genetic counseling profession.