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Genome-wide analyses of individual differences in quantitatively assessed reading- and language-related skills in up to 34,000 peopleThe use of spoken and written language is a fundamental human capacity. Individual differences in reading- and language-related skills are influenced by genetic variation, with twin-based heritability estimates of 30 to 80% depending on the trait. The genetic architecture is complex, heterogeneous, and multifactorial, but investigations of contributions of single-nucleotide polymorphisms (SNPs) were thus far underpowered.
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Multi-omics analysis defines highly refractory RAS burdened immature subgroup of infant acute lymphoblastic leukemiaKMT2A-rearranged infant acute lymphoblastic leukemia (ALL) represents the most refractory type of childhood leukemia. To uncover the molecular heterogeneity of this disease, we perform RNA sequencing, methylation array analysis, whole exome and targeted deep sequencing on 84 infants with KMT2A-rearranged leukemia.
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Comparative assessment of the human and animal health surveillance systems in Tanzania: Opportunities for an integrated one health surveillance platformGlobally, there have been calls for an integrated zoonotic disease surveillance system. This study aimed to assess human and animal health surveillance systems to identify opportunities for One Health surveillance platform in Tanzania.
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Changes to the Gut Microbiome in Young Children Showing Early Behavioral Signs of AutismThe human gut microbiome has increasingly been associated with autism spectrum disorder (ASD), which is a neurological developmental disorder, characterized by impairments to social interaction.
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Participant experiences of intervention to detect and manage familial hypercholesterolaemia in Australian general practice: A qualitative descriptive studyGeneral practitioners (GPs) are ideally placed to have a much larger role in detection and management of familial hypercholesterolaemia (FH) among their patients. The aim of this study was to seek the reflections of practice staff and newly diagnosed patients with FH on the implementation of an FH model of care in the general practice setting.
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Assessing functioning for individuals with neurodevelopmental conditions: Current clinical practice in AustraliaIn the disability sector globally, and specifically in Australia, assessments of functioning have become key to diagnostic processes, and accessing therapy and funding. Over half of all individuals accessing support through Australia's National Disability Insurance Scheme have a neurodevelopmental condition diagnosis.
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Feasibility of a 2-minute eye-tracking protocol to support the early identification of autismWe tested the potential for Gazefinder eye-tracking to support early autism identification, including feasible use with infants, and preliminary concurrent validity of trial-level gaze data against clinical assessment scores. We embedded the ~ 2-min 'Scene 1S4' protocol within a comprehensive clinical assessment for 54 consecutively-referred, clinically-indicated infants (prematurity-corrected age 9-14 months).
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Which emerging autism features at 12 months of age are associated with later parent-child interaction?Parent-child interactions (PCI) in infants with an elevated likelihood (EL) of autism start to diverge from other infants toward the end of the first year. This divergence is often attributed to emerging features of autism impacting infant social interactions in ways that become increasingly amplified. The aim was to identify which, if any, 12-month autism features were associated with later PCI qualities.
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Influences of bilingual input on English vocabulary size and academic outcomes: a large-scale longitudinal study following children in Australia from five to ten yearsResearch from large population-based studies investigating the language and academic outcomes for bilingual children is rare. The current study aimed to investigate the influence of dual language exposure on (i) English vocabulary outcomes at 5 years (126 bilinguals, 1675 monolinguals), and 10 years (vocabulary: 92 bilinguals, 1413 monolinguals:), and (ii) academic outcomes at 10 years (107 bilinguals, 1746 monolinguals).
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Targeting intolerance of uncertainty in young children diagnosed with autism: A randomized controlled trial of a parent-mediated group interventionYoung children diagnosed with autism experience high rates of co-occurring anxiety, with uncertainty-related concerns commonly reported. This randomized controlled trial investigated an 8-week parent-mediated group anxiety intervention, “Coping with Uncertainty in Everyday Situations” (CUES-Junior©).