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Research
A Pilot Study Delivering Physiotherapy Support for Rett Syndrome Using a Telehealth Framework Suitable for COVID-19 LockdownRett syndrome (RTT) is a genetically caused neurodevelopmental disorder associated with severe disability. We assessed the feasibility of a telehealth program supporting gross motor skills in RTT. Five girls with RTT were assessed and a home-based exercise program developed in response to functional goals. Families then participated in monthly Skype sessions for 6 months, guided by a physiotherapist to monitor progress and adjust the program as necessary.
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Epigenome-Wide Association Study of Thyroid Function Traits Identifies Novel Associations of fT3 With KLF9 and DOT1LThe aim is to identify novel associations between fT3, fT4, and TSH and differentially methylated positions (DMPs) in the genome in subjects from 2 Australian cohorts. We performed an epigenome-wide association study (EWAS) of thyroid function parameters and DNAm using participants from Brisbane Systems Genetics Study and the Raine Study.
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School leaders’ and staff wellbeing is critical for student success. Our Schools- Our Future Research PaperWhile most education professionals enjoy the many opportunities working in schools and with students provides, they are also exposed to numerous stressors, such as excessive workload, complex and challenging student needs and responding to parent demands can compromise their wellbeing. Frequent exposure can lead to burnout, stress, health and relationship problems and fatigue, which can have a negative impact on their motivation, job satisfaction and their likelihood of remaining in the profession. This research paper provides recommendations and practical actions to protect and promote the wellbeing of school leaders and staff, and to support staff who may be experiencing difficulties with their mental health and wellbeing.
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Time to get serious about the detection and monitoring of early lung disease in cystic fibrosisStructural and functional defects within the lungs of children with cystic fibrosis (CF) are detectable soon after birth and progress throughout preschool years often without overt clinical signs or symptoms. By school age, most children have structural changes such as bronchiectasis or gas trapping/hypoperfusion and lung function abnormalities that persist into later life. Despite improved survival, gains in forced expiratory volume in one second (FEV1) achieved across successive birth cohorts during childhood have plateaued, and rates of FEV1 decline in adolescence and adulthood have not slowed. This suggests that interventions aimed at preventing lung disease should be targeted to mild disease and commence in early life.
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"This is my boy's health! Talk straight to me!" perspectives on accessible and culturally safe care among Aboriginal and Torres Strait Islander patients of clinical genetics servicesAboriginal and Torres Strait Islander people do not enjoy equal access to specialist health services that adequately meet their needs. Clinical genetics services are at the vanguard of realising the health benefits of genomic medicine. As the field continues to expand in clinical utility and implementation, it is critical that Aboriginal and Torres Strait Islander people are able to participate and benefit equally to avoid further widening of the existing health gap. This is the first study to explore barriers to accessing clinical genetics services among Aboriginal and Torres Strait Islander people, which has been acknowledged as a key strategic priority in Australian genomic health policy.
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Validation of a novel theory of mind measurement tool: The social robot video taskSocial communication difficulties in autism spectrum disorder have been associated with poor Theory of Mind (ToM), an ability to attribute mental states to others. Interventions using humanoid robots could improve ToM that may generalize to human-human interactions. Traditionally, ToM has been measured using the Firth-Happe Animations (FHA) task which depicts interactions between two animated triangles.
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Reducing exacerbations in children and adults with primary ciliary dyskinesia using erdosteine and/or azithromycin therapy (REPEAT trial): study protocol for a multicentre, double-blind, double-dummy, 2×2 partial factorial, randomised controlled trialPrimary ciliary dyskinesia (PCD) is a rare, progressive, inherited ciliopathic disorder, which is incurable and frequently complicated by the development of bronchiectasis. There are few randomised controlled trials (RCTs) involving children and adults with PCD and thus evidence of efficacy for interventions are usually extrapolated from people with cystic fibrosis.
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Infant feeding practices and childhood acute leukemia: Findings from the Childhood Cancer & Leukemia International ConsortiumIncreasing evidence suggests that breastfeeding may protect from childhood acute lymphoblastic leukemia and acute myeloid leukemia. However, most studies have limited their analyses to any breastfeeding, and only a few data have examined exclusive breastfeeding, or other exposures such as formula milk.
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Racism and Indigenous Adolescent Development: A Scoping ReviewPrevious studies on the impacts of racism on adolescent development have largely overlooked Indigenous youth. We conducted a scoping review of the empirical literature on racism against Indigenous adolescents to determine the nature and scope of this research and to establish associations with developmental outcomes.
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Preventing severe influenza in Australian infants: Maternal influenza vaccine effectiveness in the PAEDS-FluCAN networks using the test-negative designChristopher Blyth MBBS (Hons) DCH FRACP FRCPA PhD Centre Head, Wesfarmers Centre of Vaccines and Infectious Diseases; Co-Head, Infectious Diseases