Antisense oligonucleotides are an emerging therapeutic option to treat diseases with known genetic origin. In the age of personalised medicines, anti…
Shared decision-making between patients and primary healthcare professionals positively impacts health outcomes. However, people with intellectual di…
To investigate how caregivers of children with developmental and epileptic encephalopathy and severe developmental impairments describe meaningful ch…
No validated oral health-related quality of life (OHRQOL) instrument currently exists for those with severe intellectual and developmental disabiliti…
Developmental Coordination Disorder (DCD) is an under-recognized and often trivialized neurodevelopmental condition impacting five to six percent of…
We aimed to describe the clinical spectrum and burden of COVID-19-associated neurologic disease in Australian children.
This study aims to describe the risk factors and trends in birth prevalence of septo-optic dysplasia (SOD) and gastroschisis between 1980 and 2023. T…
Clinical utility of home polysomnography in children with neuromuscular disorders is limited by lack of evidence that sleep-disordered breathing can…
Down syndrome, the most common genetic disorder, is caused by the presence of all or part of a third copy of chromosome 21. We identified the top 10…
Siblings of children with neurodevelopmental conditions have unique experiences and challenges related to their sibling role. Some develop mental hea…