Seizures are more common in the neonatal period than at any other time of life. Recognition of seizures in the NICU has changed in recent years with the introduction of bedside EEG tools. Increased recognition has raised the sceptre of whether all subclinical seizures need treatment with anticonvulsants.
This Grand Round, presented by Dr Annapurna Poduri from Boston will explore the role of genetics in epilepsy and the importance of pursuing genetic diagnoses in patients with epilepsy as a step toward refined treatment and precision medicine strategies. Dr Puduri will emphasize the importance of integrating what we know from the clinic into clinically relevant model systems.
The Insulin-like Growth Factor (IGF) system plays a fundamental role throughout the life cycle, acting via both endocrine and paracrine mechanisms. Studies by Prof George Werther and the Endocrine Research team at the Melbourne Children’s Campus have shown that IGF is critical in early development, especially in the brain, where a deficiency leads to marked microcephaly, and it is essential in repair of ischaemic injury.
Individuals who present with physical symptoms for which no disease pathology can be found are common in medical practice. In neurology outpatient clinics, patients with Functional Neurological Disorders (FNDs) are the second most common reason for referral after headaches.
Motor neurone disease (MND) occurs in all ages and is a neurodegenerative disorder in which the loss of large nerve cells in the brain and spinal cord produces progressive weakness, significant disability and frequently death.
The incidence of epilepsy is highest in infancy. Many infant epilepsies, such as infantile spasms, are very severe, with treatment-resistant seizures and major developmental impairments.
This Grand Round will cover advances in understanding of the causes of infant epilepsies, and how these advances have informed changes in investigation of aetiology and guided use of existing and novel treatments, to improve outcomes in these devastating conditions.
The complexity of diagnostic techniques for paediatric genetic conditions has increased exponentially in the last two or three decades. In tandem with this, paediatric subspecialists are dealing more and more with increased parental expectations for rapid diagnosis and effective management
Leukodystrophies remain a diagnostic challenge for practitioners and families. Next generation sequencing (NGS) offers exciting opportunities to expand our understanding of disease phenotypes and to explore pathophysiologic mechanisms, based on the molecular cause of abnormalities in central nervous system white matter. The diagnostic odyssey and its implications are discussed, from the perspective of an Australian family. Additionally, an update is provided on the contributions of NGS to the description of novel leukodystrophies and their treatments in this ever expanding field.
Although considered uncommon by adult standards, stroke is more common than brain tumours and it is amongst the top ten causes of death in children. Contrary to traditional views, it is now accepted that children don’t necessarily recover better than adults, with over half of survivors having long-term neurological and cognitive impairments
This Grand Round will explore the principles of mindfulness from the scientific, practical and philosophical perspectives and explore how it can be applied in personal and professional life. Perhaps the simplest way to describe it is to say that mindfulness is the practice of paying attention:
