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Research

Reduced heart rate variability in adults with autism spectrum disorder

Our data suggest an overall dysregulation in resting autonomic activity in adults with autism spectrum disorder

Research

Parent-observed thematic data on quality of life in children with autism spectrum disorder

Parent observations provide an initial framework for understanding quality of life in autism spectrum disorder

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Still keen and committed: piloting an instrument for identifying positive veteran teachers

Initial findings suggest the potential of the instrument in helping identifying positive veteran teachers within systems, as well as the voracity of the research approach

Research

Choice making in Rett syndrome: a descriptive study using video data

We describe the choice-making abilities of girls and women with Rett syndrome.

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Intraoperative neurophysiology monitoring in scoliosis surgery in children

Our study adds to the literature supporting the role of intraoperative neurophysiology monitoring in scoliosis surgery in children

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novel small molecule that kills a subset of MLL-rearranged leukemia cells by inducing mitochondrial dysfunction

This study thus identified a novel small molecule that rapidly kills MLL-rearranged leukemia cells by targeting a metabolic vulnerability

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Differential SLC6A4 methylation: a predictive epigenetic marker of adiposity from birth to adulthood

These data suggest that altered methylation of CpG loci within SLC6A4 may provide a robust marker of adiposity across the life course

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Factors associated with adherence to antimicrobial stewardship after-hours

Restricted antimicrobials acquired after-hours are not routinely antimicrobial stewardship adherent at the time of acquisition or the next standard working day

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Epidemiology of invasive fungal infections in immunocompromised children; an Australian national 10-year review

Non-Aspergillus molds and non-albicans Candida contributed substantially to pediatric invasive fungal infection in our study

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Association of Genetic and Environmental Factors with Autism in a 5-Country Cohort

Based on population data from 5 countries, the heritability of ASD was estimated to be approximately 80%

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Mapping changes in housing in sub-Saharan Africa from 2000 to 2015

Our maps provide a baseline for measuring change and a mechanism to guide interventions during the era of the Sustainable Development Goals

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CF derived scoring systems do not fully describe the range of structural changes seen on CT scans in PCD

Structural changes identified on CT scans in primary ciliary dyskinesia are not identical to those previously described in cystic fibrosis patients

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Birth seasonality and risk of autism spectrum disorder

In the first multinational study of birth seasonality of autism spectrum disorder, there was evidence supporting the presence of seasonal trends in Finland and Sweden

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Elastase Exocytosis by Airway Neutrophils Associates with Early Lung Damage in Cystic Fibrosis Children

Protease elastase exocytosis by airway neutrophils occurs in all cystic fibrosis children, and its cellular measure correlates with early lung damage

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Environmental enrichment intervention for Rett syndrome: An individually randomised stepped wedge trial

We investigated the effects of environmental enrichment on gross motor skills and blood BDNF levels in girls with Rett syndrome.

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Validation of intellectual disability coding through hospital morbidity records using an intellectual disability population-based database in Western Australia

To investigate how well intellectual disability (ID) can be ascertained using hospital morbidity data compared with a population-based data source.

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Improved Survival in Down Syndrome over the Last 60 Years and the Impact of Perinatal Factors in Recent Decades

Improved survival for children born with Down syndrome over the last 60 years has occurred incrementally, but disparities still exist

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Australian children living with rare diseases: experiences of diagnosis and perceived consequences of diagnostic delays

Parents of children living with rare chronic and complex diseases have called for better education and resourcing of health professionals

Research

Feasibility of assessing diet with a mobile food record for adolescents and young adults with down syndrome

The aim was to assess the feasibility of assessing diet with an image-based mobile food record application in 51 adolescents and young adults with Down syndrome.