Streptococcus pneumoniae (the pneumococcus) causes a range of diseases including otitis media, pneumonia and meningitis, and is a major cause of morbidity and mortality in children under five years of age worldwide. ...

Background: Children born with mild and moderate bilateral hearing loss experience poorer language outcomes than peers without hearing loss. Following implementation of universal newborn hearing screening (UNHS) in the ...

Cystic fibrosis (CF) is an inherited, multisystem disorder that primarily affects the respiratory and digestive systems. Currently, approximately half the individuals with CF in Australia, the United States and Canada are ...

Mitochondrial disorders are the most common inborn error of metabolism, affecting 1 in 5000 live births. Complex I (CI) de ciency is the most common cause of paediatric mitochondrial disease. Deleterious mutations in CI ...

The healthy functioning of the kidney requires the orchestrated action of its two functional units, nephrons and the collecting duct system (CD). Therefore malfunction of either of these two essential compartments can lead ...

Cardiopulmonary development and maturation involves numerous intracellular protein signalling pathways. Any alteration to these pathways may lead to the development of congenital heart and lung defects. One such important ...

Children born very preterm (VP; <32 weeks’ gestation) show wide-ranging long-term neuropsychological difficulties compared with their term-born peers, including reduced language, attention, memory and learning. One area ...

Friedreich ataxia (FRDA) is a debilitating neurodegenerative disorder which affects 1 in 29 000 individuals of Caucasian descent. Disease onset is typically between 10-15 years of age and it is primarily characterised by ...

Mitochondrial diseases are debilitating illnesses caused by mutations that impair mitochondrial energy generation. The most common clinical presentation of mitochondrial disease in children is Leigh syndrome. This ...

Paediatric arterial ischaemic stroke (AIS) affects between 1.6-2.7 per 100,000 children per year. Motor impairments are the most commonly reported adverse consequence following paediatric arterial ischaemic stroke, yet the ...