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Research

Presenting features, biology and outcome for childhood leukaemia are known to vary by ethnic origin, geographic location and socioeconomic group. This study aimed to compare presentation patterns, follow-up and clinical outcomes in Indigenous and non-Indigenous children with acute leukaemia in Australia, and to assess the impact of remoteness and area-based socioeconomic disadvantage on outcome.

Research

Valvular heart disease is a major contributor to loss of physical function, quality of life and longevity. The epidemiology of VHD varies substantially around the world, with a predominance of functional and degenerative disease in high-income countries, and a predominance of rheumatic heart disease in low-income and middle-income countries. Reflecting this distribution, rheumatic heart disease remains by far the most common manifestation of VHD worldwide and affects approximately 41 million people.

Research

Medulloblastoma is the most common malignant paediatric brain tumour and a leading cause of cancer-related mortality and morbidity. Existing treatment protocols are aggressive in nature resulting in significant neurological, intellectual and physical disabilities for the children undergoing treatment. Thus, there is an urgent need for improved, targeted therapies that minimize these harmful side effects.

Research

Rett 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.

Research

The 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.

Research

While 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.

Research

Structural 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.

Research

Aboriginal 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.

Research

Social 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.

Research

There is increasing interest in the association between perinatal depression and diet including whether diet may have an impact on depressive symptoms and equally whether depression influences diet. Furthermore, whether pharmacological treatment of depression with antidepressant medication also may influence diet.