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Consultation informs strategies for improving the use of functional evidence in variant classification

When investigating whether a variant identified by diagnostic genetic testing is causal for disease, applied genetics professionals evaluate all available evidence to assign a clinical classification. Functional assays of higher and higher throughput are increasingly being generated and, when appropriate, can provide strong functional evidence for or against pathogenicity in variant classification. Despite functional assay data representing unprecedented value for genomic diagnostics, challenges remain around the application of functional evidence in variant curation.

Comparing home polysomnography with transcutaneous CO2 monitoring to laboratory polysomnography in children with neuromuscular disorders

Clinical utility of home polysomnography in children with neuromuscular disorders is limited by lack of evidence that sleep-disordered breathing can be reliably identified and inability to diagnose hypoventilation because carbon dioxide is not measured.

Exploring the Experiences of Australian Fathers Who Lead School ‘Dads Groups’

Past research suggests that fathers are underrepresented in traditional parenting and child health promotion programs compared to mothers. One promising method to deliver support is a peer-facilitated approach that enables fathers to connect with their peers. This model has been adopted by several community organisations in Australia. However, limited research evaluates the implementation and impact of these services.

Identifying SETBP1 haploinsufficiency molecular pathways to improve patient diagnosis using induced pluripotent stem cells and neural disease modelling

SETBP1 Haploinsufficiency Disorder (SETBD) is characterised by mild to moderate intellectual disability, speech and language impairment, mild motor developmental delay, behavioural issues, hypotonia, mild facial dysmorphisms, and vision impairment. Despite a clear link between SETBP1 mutations and neurodevelopmental disorders the precise role of SETBP1 in neural development remains elusive.

Environmental Determinants of Islet Autoimmunity (ENDIA) longitudinal prospective pregnancy to childhood cohort study of Australian children at risk of type 1 diabetes: parental demographics and birth information

The Environmental Determinants of Islet Autoimmunity Study is an ongoing Australian prospective cohort study investigating how modifiable prenatal and early-life exposures drive the development of islet autoimmunity and type 1 diabetes in children. In this profile, we describe the cohort's parental demographics, maternal and neonatal outcomes and human leukocyte antigen genotypes. 

Opportunities to strengthen respiratory virus surveillance systems in Australia: lessons learned from the COVID-19 response

Disease surveillance data was critical in supporting public health decisions throughout the coronavirus disease 2019 (COVID-19) pandemic. At the same time, the unprecedented circumstances of the pandemic revealed many shortcomings of surveillance systems for viral respiratory pathogens. Strengthening of surveillance systems was identified as a priority for the recently established Australian Centre for Disease Control, which represents a critical opportunity to review pre-pandemic and pandemic surveillance practices, and to decide on future priorities, during both pandemic and inter-pandemic periods.

Remote paediatric ear examination comparing video-otoscopy and still otoscopy clinician rated outcomes

Telemedicine, particularly real time video-otoscopy in rural and remote Australia holds great potential in assessing and managing otology conditions. There is good evidence of store and forward images for assessment, however limited evidence exists for the use of real-time video-otoscopy. The objective of this study was to assess the validity of using real time video-otoscopy, compared to standard store and forward still image otoscopy, in a paediatric population.

Community knowledge, attitude, practices and beliefs associated with persistence of malaria transmission in North-western and Southern regions of Tanzania

Despite significant decline in the past two decades, malaria is still a major public health concern in Tanzania; with over 93% of the population still at risk. Community knowledge, attitudes and practices, and beliefs are key in enhancing uptake and utilization of malaria control interventions, but there is a lack of information on their contribution to effective control of the disease.

The effect of the COVID-19 pandemic on paediatric anaesthesia research as evidenced by the contrasting recruitment experiences of centres in Australia and Scotland

At two hospitals in Western Australia, we conducted a prospective, open-label, randomised, controlled trial of 240 patients undergoing tonsillectomy to investigate the effect of chewing a confectionery jelly snake on postoperative nausea and vomiting. The results were published in Anaesthesia Critical Care & Pain Medicine. Recruitment for this study was completed uneventfully between July 2018 and August 2019.

Survival Outcomes of Children with Relapsed or Refractory Myeloid Leukemia Associated with Down syndrome

Children with Down syndrome (DS) are at a significantly higher risk of developing acute myeloid leukemia, also termed myeloid leukemia associated with DS (ML-DS). In contrast to the highly favorable prognosis of primary ML-DS, the limited data that are available for children who relapse or who have refractory ML-DS (r/r ML-DS) suggest a dismal prognosis. There are few clinical trials and no standardized treatment approach for this population.