Paediatrics

Clinical and genetic challenges of mitochondrial disorders. What does Maeve’s Law offer?

The primary mitochondrial oxidative phosphorylation disorders are characterized by clinical and genetic heterogeneity, limited treatment options, and poor outcomes.  Part of the complexity is because both the nuclear and mitochondrial genomes may be involved.  Mitochondrial DNA is maternally inherited.  From a reproductive counselling perspective, couples with a family history of mitochondrial DNA disease often have limited reproductive options available to them.

.

Generation Victoria (GenV): Every baby. Every parent. Everybody.

Very large, truly population-representative pregnancy cohorts are rare internationally. Generation Victoria (GenV) is a whole-state cohort targeting all newborns (~150,000) and their parents over 2 full years. Components include (i) families recruited soon after birth, (ii) biospecimens from pregnancy onwards, (iii) extensive data linkage supplemented by (iv) minimal GenV collected data, all enabling (v) many additional integrated research studies, both observational and interventional.

.

Finding a way through the challenges and turmoil of the experience of sibling sexual abuse: How hope can help

Sibling sexual abuse is 3-5 times more common than father/step-father abuse. This study looked past the factors that might contribute to the occurrence of sibling sexual abuse with the aim of better understanding the experience of therapists working with families with such experience and collaboratively developing principles to guide practice in this complex area of child sexual abuse.

.

The Colorectal and Pelvic Reconstruction Service: Leadership and innovation for children with complex colorectal conditions

The Colorectal and Pelvic Reconstruction Service was created in 2019 to provide world-class care for children and families affected by complex colorectal conditions. Through the combined support of the RCH Foundation, the Victorian Government and the Federal Government, the service acts as a national leader for children born with anorectal malformations or Hirschsprung disease, and children affected by chronic constipation. 

.

Measuring and moving on the child and youth mental healthcare system: Reflections from Canada

This session will describe a 10 year initiative to develop a data and evaluation platform for children and youth mental health and service delivery in Ontario, Canada’s largest province.  The session will touch on the advantages and limitations of using routinely collected health system data for surveillance and performance measurement, and challenges in evaluating a large, system wide policy strategy to improve early identification and coordination of care for children and youth with mental health disorders. 

.

3.6 million and counting: Victoria’s Newborn bloodspot screening program – recent innovations and future directions

Victoria’s newborn bloodspot screening (NBS) program commenced in 1966 with screening for phenylketonuria, and from the early 1970’s close to 100% of newborns were being screened. Improvements in analytical and genetic testing technologies saw the successive introduction of screening for congenital hypothyroidism, cystic fibrosis and 22 metabolic conditions. Today, Victoria’s NBS program detects about 80 babies per year with these conditions, preventing life-long debilitating outcomes and even death.

.

Designing better trials with patients who have glomerular disease: Using consensus methods to develop a core outcome set

Trials typically report outcomes that lack relevance to patients and caregivers trying to make treatment decisions. Also, outcomes are often reported inconsistently which impairs evidence synthesis. Core outcome sets can address these important shortcomings with current trial outcomes by developing a set of outcomes to be routinely reported in all trials in a particular field.

.

Launching the Paediatric Academy, one place to connect and collaborate

We are excited to launch the Department of Paediatrics Academy, a community of practice on a shared platform across University of Melbourne, RCH and MCRI, as well as collaborating organisations. 

In the digital world we live in now, communities of practice can be highly effective where the working context can be complex and ambiguous. This presentation will highlight the functions of a community of practice, learn firsthand from Boston Children’s Hospital’s Academy, as well as local experience from RCH Centre of Health Analytics. 

.