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Research

Down Syndrome

Down syndrome, also known as Trisomy 21, is one of the most common chromosome abnormalities in humans. It occurs when a child's cells end up with 47 chromosomes instead of the usual 46. Down syndrome causes intellectual disability and other physical and learning challenges.

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Anaphylaxis

Anaphylaxis is rapid onset severe allergic reaction to an allergen. These allergens are most commonly food, insects, or medication. Anaphylactic reactions are serious and can be life-threatening.

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Strep A (Group A Streptococcus)

Streptococcus A is a bacterium often found in the throat and on the skin.

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“Stop, pause and take a break”: a mixed methods study of the longer-term outcomes of digital emotional wellbeing training for perinatal women

Maternal psychological distress is related to poorer physical and mental health as well as child developmental problems. Interventions that optimise maternal mental health and wellbeing during the "first 1,000 days" of life should have wide-reaching benefits for the mother and her child.

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Feasibility of home-based urine collection in children under 5 years in the ORIGINS birth cohort study: mixed method protocol and sample completion results

Urine is an attractive biospecimen for nutritional status and population health surveys. It is an excellent non-invasive alternative to blood for appropriate biomarkers in young children and is suitable for home-based collection, enabling representative collections across a population. However, the bulk of literature in this population is restricted to collection in primary care settings.

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Targeting intolerance of uncertainty in young children diagnosed with autism: A randomized controlled trial of a parent-mediated group intervention

Young children diagnosed with autism experience high rates of co-occurring anxiety, with uncertainty-related concerns commonly reported. This randomized controlled trial investigated an 8-week parent-mediated group anxiety intervention, “Coping with Uncertainty in Everyday Situations” (CUES-Junior©).

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Atopy-related immune profiles are subject to genetic influence as evaluated using school-aged twin pairs

The interaction of genetic and environmental contributions to immunological traits and their association with atopic disease remain unclear. Flow cytometry and in vitro cytokine responses were used to characterize immune profiles from 93 school-aged twin pairs. Using an established twin pair analytical strategy, the genetic and environmental influences on immunological traits were evaluated, along with their association with atopy. Our findings suggest strong genetic influence on several traits, particularly B cell abundance. In contrast, cytokine responses from in vitro stimulations appeared mainly shaped by environmental exposures.

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Caregivers' Perceptions of Clinical Symptoms, Disease Management, and Quality of Life Impact in Cases of Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Cross-Sectional Online Survey

Cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) is an ultrarare genetic condition causing developmental epileptic encephalopathy characterized by seizures and motor and intellectual disabilities. No disease-modifying therapies are available, and treatments focus mainly on symptom management to improve quality of life.

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Changing rules, recommendations, and risks: COVID-19 vaccination decisions and emotions during pregnancy

As COVID-19 vaccinations rolled out globally from late 2020, rules and recommendations regarding vaccine use in pregnancy shifted rapidly. Pre-registration COVID-19 vaccine trials excluded those who were pregnant. Initial Australian medical advice did not routinely recommend COVID-19 vaccines in pregnancy, due to limited safety data and little perceived risk of local transmission.

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Impact of Parent-Reported Antibiotic Allergies on Pediatric Antimicrobial Stewardship Programs

Antimicrobial stewardship (AMS) is crucial for optimizing antimicrobial use and restraining emergence of antimicrobial resistance. The overall increase in reported antibiotic allergies in children can pose a significant barrier to AMS, but its impact on clinical AMS care in children has not been addressed.