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Valid clinical outcome assessments with the ability to capture meaningful aspects of neurodevelopment for individuals with neurogenetic conditions associated with profound functional impairments are lacking, yet critical for clinical care and clinical trial readiness.
This study aimed to validate qPCR assays for specific microbiota, for use on dental plaque samples stored on Whatman FTA cards to compare relative oral health risk in Rett syndrome.
An in-depth investigation of gene regulation and cell populations at sites of fetal blood-cell production provides clues as to why children with Down’s syndrome are predisposed to developing leukaemia.
Cerebral palsy (CP) is the most common physical disability of childhood worldwide. Historically the diagnosis was made between 12 and 24 months, meaning data about effective early interventions to improve motor outcomes are scant. In high-income countries, two in three children will walk. This evaluator-blinded randomised controlled trial will investigate the efficacy of an early and sustained Goals-Activity-Motor Enrichment approach to improve motor and cognitive skills in infants with suspected or confirmed CP.
Siblings of individuals with neurodevelopmental conditions (NDCs) are exposed to unique family environments and experience a range of psychosocial risk and resilience factors.
This article aims to critically review the literature on continuous electroencephalography (cEEG) monitoring in the intensive care unit (ICU) from an Australian and New Zealand perspective and provide recommendations for clinicians. Design and review methods: A taskforce of adult and paediatric neurologists, selected by the Epilepsy Society of Australia, reviewed the literature on cEEG for seizure detection in critically ill neonates, children, and adults in the ICU.
Cerebral palsy (CP) is a lifelong physical disability, resulting from maldevelopment or damage to the developing brain. All children with CP have a disorder of movement and posture, but this is often accompanied by disorders of intellect, sensation, behaviour and epilepsy. Long-standing CP registers and surveillance systems estimate the prevalence of CP as approximately 2 per 1000 live births; however variations are seen over time and in different regions of the world.
Intellectual and developmental disabilities (IDD) are varied in their nature and presentation. Barriers to oral healthcare are reported in studies of general populations with IDD but these may not reflect the barriers experienced by individuals with rare disorders such as Rett syndrome.
Septo-optic dysplasia (SOD) is a major cause of congenital hypopituitarism and is known to be associated with overweight and obesity in up to 44% of children. Given the role of the hypothalamus in hormonal regulation, we sought to assess the association of resting energy expenditure (REE), appetite and physical activity with SOD.
Siblings of individuals with neurodevelopmental conditions (NDCs) are at increased genetic and environmental risk for poorer psychosocial and neurocognitive outcomes compared to control groups of siblings of individuals without NDCs.