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Research

Atypical nested 22q11.2 duplications are associated with neurodevelopmental phenotypes including autism spectrum disorder with incomplete penetrance

Our findings contribute to the genotype–phenotype data for atypical nested 22q11.2 duplications, with implications for genetic counseling

Research

Research priorities for childhood chronic conditions: a workshop report

Research priorities emphasise a focus on life participation, psychosocial well-being, impact on family and quality of care

Research

Emerging diabetes and metabolic conditions among Aboriginal and Torres Strait Islander young people

Collaboration between clinicians and researchers is required to establish the prevalence and disease burden of type 2 diabetes among Indigenous young people

Research

Challenges in Accurately Assessing Prenatal Alcohol Exposure in a Study of Fetal Alcohol Spectrum Disorder in a Youth Detention Center

Accurately assessing prenatal alcohol consumption is exceptionally challenging when assessed retrospectively as part of a FASD assessment for a young person sentenced to detention

Research

Allergy alerts — The incidence of parentally reported allergies in children presenting for general anesthesia

Only the minority of parent-reported allergies in pediatric surgical patients were specialist confirmed and likely to be clinically relevant

Research

Survival of children and adolescents with intellectual disability following gastrostomy insertion

Whilst gastrostomy insertion was associated with lower survival rates than children without gastrostomy, survival improved with time

Research

Infant, maternal and demographic predictors of delayed vaccination: A population-based cohort study

Receiving vaccines at or close to their due date (vaccination timeliness) is a now key measure of program performance. However, studies comprehensively examining predictors of delayed infant vaccination are lacking. We aimed to identify predictors of short and longer-term delays in diphtheria-tetanus-pertussis (DTP) vaccination by dose number and ethnicity.

Research

Causes and Clinical Features of Childhood Encephalitis: A Multicenter, Prospective Cohort Study

Epidemic viral infections predominated as causes of childhood encephalitis in Australia. The leading causes include vaccine-preventable diseases

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Assessing the unified airway hypothesis in children via transcriptional profiling of the airway epithelium

Upper and lower airways are conserved in their transcriptional composition, and variations associated with disease are present in both nasal and tracheal epithelium