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Mapping changes in immune cell populations in gestational tissues over the course of pregnancy

This is a strategic “pilot” project in which we are seeking basic information on the immune cell content of gestational tissues.

Wellbeing and Mental Health

Our Wellbeing and Mental Health research focuses on improving the emotional and psychological health of children. We develop evidence-based interventions and strategies to promote resilience, prevent mental health challenges, and help kids thrive.

Is targeted cytomegalovirus testing of infants feasible in Western Australia? An observational study

Congenital cytomegalovirus (cCMV) is a common infection at birth with the potential to cause significant and permanent morbidity, most commonly hearing loss. Targeted cCMV testing programmes use hearing loss as an indicator of an infant being at high risk of the infection and thereby can 'target' or focus testing on those at greatest risk. Australian and International guidelines recommend that high-risk infants be offered cCMV testing, yet across Australia, a formal testing system does not exist.

The impact of child self-regulation difficulties on parents: A qualitative study

The capacity for children to self-regulate is an important developmental task of early childhood, with caregivers playing an integral role in self-regulation development. While caregivers' emotions and behaviors are known to impact child self-regulatory capacity, the impact of child self-regulation difficulties on parents is less understood. 

Functional skills in MECP2 duplication syndrome: developmental dynamics and regression

MECP2 duplication syndrome (MDS) is an ultrarare, X-linked neurodevelopmental disorder that is poorly understood in terms of its natural history and phenotypic variability. There is limited information on how individuals with MDS acquire, retain or lose fundamental functional skills (gross motor, purposeful hand function and communication) - that of which this study aimed to better characterise in the largest case series to date.

A precision medicine approach to interpret a GATA4 genetic variant in a paediatric patient with congenital heart disease

Patients with congenital heart disease (CHD) are identified in 1% of live births. Improved surgical intervention means many patients now survive to adulthood, the corollary of which is increased mortality in the over-65-year-old congenital heart disease population. In the clinic, genetic sequencing increasingly identifies novel genetic variants in genes related to CHD.

Australia’s top 10 rare disease research priorities: a priority setting partnership

The aim of this study was to identify and prioritise the ten most important unanswered themes in rare disease research in Australia by integrating perspectives of key stakeholders, including people living with rare disease, parents/carers, health professionals, and rare disease community advocates.

Circulating thyroid hormones and metabolites in children with autism spectrum disorder

Thyroid hormones affect neurological development and function, but detailed studies of thyroid hormones and metabolites in autism are lacking. The objective was t characterize thyroid function and metabolism in autistic children.

Culturally competent care for LGBTIQA+ people experiencing intimate partner violence: A reflexive thematic analysis of healthcare provider perspectives and support needs

Lesbian, Gay, Bisexual, Transgender, Intersex, Queer, Asexual/Aromantic (LGBTIQA+) people and other individuals with diverse sexual orientation, sex and/or gender identity experience intimate partner violence (IPV) at higher rates than non-LGBTIQA+ people but often receive inconsistent culturally competent healthcare, which deters help-seeking.