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.
Author Archives: Helen Dcruz
The WHO’s International Classification of Functioning (ICF) was published in 2001. Advocates in the field of developmental disability have been promoting its use as an integrated and strengths-based approach to our thinking, actions, and research. Building on the ICF framework, colleagues at CanChild Centre in Canada published a tongue-in-cheek paper entitled “The F-words in Childhood Disability: I swear this is how we should think”.
Genomic technologies have the potential to transform how we deliver healthcare. Genomic medicine promises better patient outcomes and a more efficient health system through rapid diagnosis, early intervention, prevention and targeted therapies. However, there are significant hurdles that need to be overcome to implement genomics into routine clinical practice.
Arguably the pre-eminent developmental task of childhood is to grow a good brain. Glucose is the primary metabolic fuel for the brain- peaking at 140-170 grams per day at around 5 years of age with a constant supply critical for normal cerebral metabolism. Thus it is not surprising that developing brains in early childhood are more susceptible to metabolic insult, particularly those resulting from perturbations in blood glucose levels. Type 1 diabetes (T1DM) is one of the most common chronic diseases of childhood and the condition most likely to cause the greatest fluctuations in blood glucose
For over 21 years, the Centre for Community Child Health (CCCH) has been working with children, families and communities to promote healthy development and equity of outcomes. The Centre was founded in 1994 by Professor Frank Oberklaid OAM, and has grown into a 100-strong team – recognised nationally and internationally for leadership in child health and development.
There is no easy formula for ethical leadership in a world where systematic ethical analysis is rare and cognitive processes work against us. We will explore how we can meet these challenges and lead more ethically
The development of new medical technology requires the collaboration of engineering, IT, medicine, science and industrial design. The Monash Institute of Medical Engineering (MIME) fosters the development of new medical technologies across the whole spectrum of medical science. A prime example of this is the bionic vision device which has been developed over the last five years. This is a ‘brain-machine’ device to restore visual function to blind individuals. I will be presenting this research project but also some of the other exciting areas of medical engineering including the development of replacement body parts such as the ear and the trachea using bio-printing techniques and ‘laboratory on-a-chip’ technology. There is great scope for medical engineering in paediatrics.
Although breast milk is considered the perfect food for babies, there is continued controversy concerning its association with a wide range of health outcomes. Dr Caroline Lodge has led three systematic reviews investigating the associations between breastfeeding and: allergic disease (asthma, eczema, allergic rhinitis and food allergy), acute otitis media and, childhood dental caries
Since the 1950s organ donation has been available as a benevolent opportunity. The legal, ethical and moral framework has evolved since to establish its optimal conduct. Worldwide, efforts have been made to enhance organ donation rates by the establishment of organ procurement agencies.
Enhancing the wellbeing, learning and development pathways for children, especially those from disadvantaged families, depends on the timing, targeting and intensity of support though infancy and early childhood. These early environments impact health and psychosocial development throughout the life-course. Early childhood education and care settings (ECEC) – often referred to as child care – have the potential to partially compensate for disadvantaged and stressful early environments and amplify development.