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Functional skills in MECP2 duplication syndrome: developmental dynamics and regression

MECP2 duplication syndrome (MDS) is an ultrarare, X-linked neurodevelopmental disorder that is poorly understood in terms of its natural history and phenotypic variability. There is limited information on how individuals with MDS acquire, retain or lose fundamental functional skills (gross motor, purposeful hand function and communication) - that of which this study aimed to better characterise in the largest case series to date.

Educational pathways and earnings trajectories of second-generation immigrants in Australia: New insights from linked census-administrative data

This study employs 2011 Census data linked to population-based administrative datasets to explore disparities in educational attainment and earnings trajectories among Australian-born children of diverse parental migration backgrounds from mid-adolescence to early adulthood. 

Inoculation Theory and Sport, Exercise, and Physical Activity

Movement is at the core of human existence. For infants and children, exploratory movement offers a scaffold for important learning and development outcomes, and in adolescents and adults, regular activity is key for promoting good physical and mental health.

Achieving cultural safety in genetic counseling for Aboriginal and Torres Strait Islander people in Australia

Globally, 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.

Understanding motivation and experience in participating in a paediatric SARS-CoV-2 serosurvey, in Australia

Serosurveys are considered as a valuable tool in estimating population immunity and infection rates but recruitment of children to provide paediatric estimates can be challenging. A novel approach of sampling children undergoing anaesthesia was utilised for a SARS-CoV-2 serosurvey in Australian children and we explore the reasons for participation, feedback on the approach and importance of research into Coronavirus Diseases 2019 (COVID-19).

Identifying Infants <32 Weeks' Gestation at Low Risk of Early-Onset Sepsis: A 10-Year Retrospective Study from Western Australia

Preterm infants are commonly treated with antibiotics on admission to the neonatal unit as part of routine care. We aimed to identify infants <32 weeks' gestation at low risk of early-onset sepsis (EOS) in whom antibiotics could be safely withheld.

Auditory-cued exercise therapy (ACET) in 7–12-year-old children with listening difficulties–a feasibility and pilot trial protocol

(Central) Auditory Processing Disorder ([C]APD) is an umbrella term for children who have difficulty with listening, despite normal hearing. Children with (C)APD frequently experience academic, behavioural, emotional, cognitive and social difficulties, and lack accessible, long-lasting wholistic treatments. Hence, a transdisciplinary intervention has been developed – Auditory-Cued Exercise Therapy. 

Meta-analysis of associations between childhood emotional abuse and adulthood emotion regulation

This meta-analytic study examined the associations between childhood emotional abuse (CEA) history in adults and eleven emotion regulation abilities. Inclusion criteria were the use of validated and reliable multi-item measures, cross-sectional Pearson's correlation coefficient(s), and retrievable in English. 

Population-specific heterogeneity in ontogeny of the broadly-conserved blood transcriptional program during the first week of life

Previous research has shown that immune development during the first week of life, i.e. ontogeny, is progressive, consistent and robust, involving large numbers of differentially expressed genes at each sampled time point.

FeBRILe3: Caregiver Satisfaction With Early Discharge of Febrile Infants Under 3 Months Old

Although evidence supports clinicians to "safely do less" for febrile infants assessed as low risk of serious bacterial infection (SBI), early discharge may increase caregiver concern and reduce satisfaction with care. We captured the self-reported satisfaction and concerns for families enrolled in the study of fever, blood cultures and readiness for discharge in infants less than 3 months old (FeBRILe3), a prospective safety assessment of early discharge of low-risk febrile infants, to aid evaluation of this practice.