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Research

Reducing the Impact of Tinnitus on Children and Adolescents' Lives: A Mixed-Methods Concept Mapping Study

To generate a conceptual framework describing what is done to reduce the impact of chronic tinnitus on the lives of children and adolescents.

Research

OMIP 076: High-dimensional immunophenotyping of murine T-cell, B-cell, and antibody secreting cell subsets

There is now considerable evidence demonstrating that both prenatal and postnatal exposure to particular classes of microbial stimuli can provide beneficial signals during early life immune development, resulting in the protection against future inflammatory disease.

Research

Large-scale open-source three-dimensional growth curves for clinical facial assessment and objective description of facial dysmorphism

Craniofacial dysmorphism is associated with thousands of genetic and environmental disorders. Delineation of salient facial characteristics can guide clinicians towards a correct clinical diagnosis and understanding the pathogenesis of the disorder. Abnormal facial shape might require craniofacial surgical intervention, with the restoration of normal shape an important surgical outcome.

Research

Burden and preference-based quality of life associated with bullying in children

The objectives of this study are to assess the association between childhood bullying and preference-based health-related quality of life in Australian school children and their parents and estimate quality-adjusted life years associated with bullying chronicity. Children aged 8-10 years completed the child health utilities, while parents completed the Australian quality of life.

Research

Global epidemiology of valvular heart disease

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

Systems pharmacogenomics identifies novel targets and clinically actionable therapeutics for medulloblastoma

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

Bullying and psychosocial adjustment among children with and without asthma

Children with asthma face serious mental health risk, but the pathways remain unclear. This study aimed to examine bullying victimisation and perpetration in children with asthma and a comparison sample without a chronic health condition, and the role of bullying in moderating psychosocial adjustment outcomes for those with asthma. A sample of children with and without asthma, and their parents, were recruited from hospital clinics.

Research

The associations between autistic and communication traits in parents and developmental outcomes in children at familial risk of autism at 6 and 24 months of age

Several studies have explored relationships between parent broader autism phenotype and offspring communication, and have reported that autistic-like traits in parents are related to offspring communication difficulties and autism severity. However, past research has focused on studying such associations in childhood and we know very little about them in infancy. With accumulating evidence that interventions administered during infancy may be most effective in reducing ASD symptoms, it is imperative to examine whether relationships between parent autistic-like traits and child communication appear even earlier during this critical period of life.

Research

A Pilot Study Delivering Physiotherapy Support for Rett Syndrome Using a Telehealth Framework Suitable for COVID-19 Lockdown

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

Epigenome-Wide Association Study of Thyroid Function Traits Identifies Novel Associations of fT3 With KLF9 and DOT1L

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.