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Research

Sleep problems in Rett syndrome

Sleep problems are thought to occur commonly in Rett syndrome, but there has been little research on prevalence or natural history.

Research

The association between behaviour and genotype in Rett Syndrome using the Australian Rett Syndrome Database

This study compared the behavior profile of cases in the Australian Rett Syndrome Database (ARSD) with those in a British study using the Rett Syndrome...

Research

Cohort Profile: The ORIGINS pregnancy and birth cohort

Desiree Doctor Jackie Susan Lisa Zenobia Silva Davis Prescott Gibson Talati MBBS, FRACP, MPH, PhD BSc (Hons) MBBS BMedSci PhD FRACP BA (Hons), MPsych

Research

Risk of cancer among children with birth defects: A novel approach

This novel approach aimed to prevent inflated hazard ratios arising from reverse causation, and allow identification of associations beyond those already...

Research

New genetic loci link adipose and insulin biology to body fat distribution

Pathway analyses implicated adipogenesis, angiogenesis, transcriptional regulation and insulin resistance as processes affecting fat distribution, providing...

Research

Effectiveness of seasonal trivalent influenza vaccination against hospital-attended acute respiratory infections in pregnant women

Influenza vaccination during pregnancy was associated with significantly fewer hospital attendances for ARI in pregnant women

Research

A comparison of parent-reported and self-reported psychosocial function scores of the PedsQL for children with non-severe burn

Quality of life of paediatric patients after burn injury is often assessed through parents who may score differently to their child. Non-severe burns are the most common type of burn injury in Western Australia, however, despite low severity and high survival rates, they can cause long term physical and psychosocial problems which need to be detected early in order to provide patients with optimal holistic care.

Research

Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome

In 2014, germline signal transducer and activator of transcription (STAT) 3 gain-of-function (GOF) mutations were first described to cause a novel multisystem disease of early-onset lymphoproliferation and autoimmunity.

Research

Effect of Preemptive Intervention on Developmental Outcomes Among Infants Showing Early Signs of Autism: A Randomized Clinical Trial of Outcomes to Diagnosis

Intervention for individuals with autism spectrum disorder (ASD) typically commences after diagnosis. No trial of an intervention administered to infants before diagnosis has shown an effect on diagnostic outcomes to date.

Research

Linked data research: a valuable tool in the ART field

This letter to the editor endorses data linkage studies and cites their potential value over other types of epidemiological studies within the field of...