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Reports and Findings

Circulating thyroid hormones and metabolites in children with autism spectrum disorder

Thyroid hormones affect neurological development and function, but detailed studies of thyroid hormones and metabolites in autism are lacking. The objective was t characterize thyroid function and metabolism in autistic children.

A precision medicine approach to interpret a GATA4 genetic variant in a paediatric patient with congenital heart disease

Patients with congenital heart disease (CHD) are identified in 1% of live births. Improved surgical intervention means many patients now survive to adulthood, the corollary of which is increased mortality in the over-65-year-old congenital heart disease population. In the clinic, genetic sequencing increasingly identifies novel genetic variants in genes related to CHD.

Etiology of Severe Microcephaly in Infants: A Multinational Surveillance Study

Severe microcephaly, or head circumference at least 3 standard deviations below the mean for age and sex, is a rare condition with diverse etiology, making diagnosis challenging. Following the 2015 to 2016 Zika virus outbreak, surveillance studies in Australia, Canada, New Zealand, and the United Kingdom and Ireland were conducted to monitor severe microcephaly. We describe the etiology, clinical features, and diagnostic investigations of severe microcephaly among children aged younger than 1 year.

Longitudinal Rett syndrome behaviour questionnaire scores and their associations with genotype and trajectories of mobility, weight and seizure frequency status

The Rett Syndrome Behaviour Questionnaire (RSBQ) describes behavioural and emotional features. This study investigated total RSBQ score trajectories and their clustering, and for trajectory groups, relationships with genotype and mobility, weight-for-age z scores, and seizure frequency.

Implementing Cultural Safety in Research Methodology: The Co-Design Process of a Brief Therapeutic Intervention for Aboriginal and Torres Strait Islander Young People Who Engage in Self-Harm

Aboriginal and Torres Strait Islander Peoples share rich cultural traditions unrivalled across the world; however, the continued impact of colonisation led to sustained, profound trauma that has spanned generations. With Aboriginal and Torres Strait Islander people presenting to hospital emergency departments for self-harm and suicidal behaviours at a rate 2.9 times higher than non-Indigenous people, there is a need to develop culturally appropriate interventions to address this growing problem.

Nutrition in early life interacts with genetic risk to influence preadult behaviour in the Raine Study

Early life nutrition is associated with child behaviour; however, the interplay with genetic vulnerability is understudied. We hypothesised that psychiatric genetic risk interacted with early nutrition to predict behavioural problems in childhood and adolescence.

Co-designing a new clinical pathway to support families with children identified as having early-stage type 1 diabetes in Western Australia

Children with early-stage (pre-symptomatic) type 1 diabetes are currently identified primarily via research-based screening programmes in Australia. Once identified, families live with the knowledge that their child has an increased chance of developing symptomatic, lifelong, insulin-requiring type 1 diabetes but have no specific clinical pathway available to them in Western Australia for accessing tailored support or education. This project aimed to co-design a new clinical pathway to address this unmet need.

Critical Events in Anaesthetised Kids Undergoing Tracheal Intubation (CRICKET)—study protocol for an international multicentre prospective observational study

Critical Events in Anaesthetised Kids undergoing Tracheal Intubation (CRICKET) is a prospective, international multicentre observational study with the objective of capturing, assessing, and analysing critical events associated with tracheal intubation in children.

High rates of suppurative otitis media among children attending urban clinics in Goroka, Eastern Highlands Province, Papua New Guinea: a cross-sectional study

Otitis media (OM) is the leading cause of childhood hearing loss but its burden in low-middle-income countries like Papua New Guinea (PNG) is poorly understood. We aimed to determine the proportion of children aged ≤15 years attending clinics in Goroka, Eastern Highlands Province, PNG with OM and associated risk factors.

Protocol for a feasibility and acceptability trial of Bloom, a co-produced and co-facilitated parent group to enhance the quality of life and well-being of young autistic children

The autistic and autism communities have identified improving the quality of life and well-being of autistic people as a key priority. Despite this, to date, there are no evidence-based supports for autistic children which specifically focus on improvements in these areas.