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Interactions between the lipidome and genetic and environmental factors in autismAutism omics research has historically been reductionist and diagnosis centric, with little attention paid to common co-occurring conditions (for example, sleep and feeding disorders) and the complex interplay between molecular profiles and neurodevelopment, genetics, environmental factors and health. Here we explored the plasma lipidome in 765 children (485 diagnosed with autism spectrum disorder (ASD)) within the Australian Autism Biobank.
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Evaluation Tools Developed for Rett SyndromeRett syndrome (RTT) is a complex neurodevelopmental X-linked disorder associated with severe functional impairments and multiple comorbidities. There is wide variation in the clinical presentation, and because of its unique characteristics, several evaluation tools of clinical severity, behavior, and functional motor abilities have been proposed specifically for it.
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Time-out for well-being: A mixed methods evaluation of attitudes and likelihood to engage in different types of online emotional well-being programmes in the perinatal periodPositive maternal mental health during the perinatal period contributes to general well-being and positive emotional bonds with the child, encouraging an optimal developmental trajectory. Online interventions to enhance maternal well-being and develop coping skills, such as meditation-based interventions, can be a low-cost way to improve mother and child outcomes.
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How does the school built environment impact students’ bullying behaviour? A scoping reviewSchool bullying is a public health concern affecting the physical and mental health of children and young people. While school-based interventions to prevent bullying have been developed internationally, the effectiveness of many interventions has been mixed and modest.
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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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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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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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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.