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The Development and Feasibility of a Manualised Therapeutic Playgroup for Children with Developmental Delay

Playgroups are widely used throughout the Australian community yet understanding of their efficacy is hindered by inconsistent playgroup definitions and practice principles. This study aimed to develop, implement and evaluate the feasibility of a manualised therapeutic playgroup for children with developmental delay and their families using a three step process.

Clinician-rated quality of video otoscopy recordings and still images for the asynchronous assessment of middle-ear disease

Video otoscopy plays an important role in improving access to ear health services. This study investigated the clinician-rated quality of video otoscopy recordings and still images, and compared their suitability for asynchronous diagnosis of middle-ear disease. Two hundred and eighty video otoscopy image-recording pairs were collected from 150 children (aged six months to 15 years) by an ear, nose, and throat (ENT) specialist, audiologists, and trained research assistants, and independently rated by an audiologist and ENT surgeon.

Changes in airway inflammation with pseudomonas eradication in early cystic fibrosis

Neutrophil elastase is a significant risk factor for structural lung disease in cystic fibrosis, and Pseudomonas aeruginosa airway infection is linked with neutrophilic inflammation and substantial respiratory morbidity. We aimed to evaluate how neutrophil elastase (NE) activity changes after P. aeruginosa eradication and influences early disease outcomes. We assessed participants in the AREST CF cohort between 2000 and 2018 who had P. aeruginosa cultured from their routine annual bronchoalveolar lavage (BAL) fluid and who underwent eradication treatment and a post eradication BAL. Factors associated with persistent P. aeruginosa infection, persistent neutrophilic inflammation following eradication and worse structural lung disease one year post-eradication were evaluated.

The Human Phenotype Ontology in 2021

The Human Phenotype Ontology was launched in 2008 to provide a comprehensive logical standard to describe and computationally analyze phenotypic abnormalities found in human disease. The HPO is now a worldwide standard for phenotype exchange. The HPO has grown steadily since its inception due to considerable contributions from clinical experts and researchers from a diverse range of disciplines. Here, we present recent major extensions of the HPO for neurology, nephrology, immunology, pulmonology, newborn screening, and other areas.

Exploring genotype-phenotype relationships in the CDKL5 deficiency disorder using an international dataset

Characterized by early-onset seizures, global developmental delay and severe motor deficits, CDKL5 deficiency disorder is caused by pathogenic variants in the cyclin-dependent kinase-like 5 gene. Previous efforts to investigate genotype-phenotype relationships have been limited due to small numbers of recurrent mutations and small cohort sizes. Using data from the International CDKL5 Disorder Database we examined genotype-phenotype relationships for 13 recurrent CDKL5 variants and the previously analyzed historic variant groupings. We have applied the CDKL5 Developmental Score (CDS) and an adapted version of the CDKL5 Clinical Severity Assessment (CCSA), to grade the severity of phenotype and developmental outcomes for 285 individuals with CDKL5 variants.

Do sex hormones at birth predict later-life economic preferences? Evidence from a pregnancy birth cohort study: Hormones at birth and preferences

Economic preferences may be shaped by exposure to sex hormones around birth. Prior studies of economic preferences and numerous other phenotypic characteristics use digit ratios (2D : 4D), a purported proxy for prenatal testosterone exposure, whose validity has recently been questioned. We use direct measures of neonatal sex hormones (testosterone and oestrogen), measured from umbilical cord blood (n = 200) to investigate their association with later-life economic preferences (risk preferences, competitiveness, time preferences and social preferences) in an Australian cohort (Raine Study Gen2).

Early Years Systems Evidence

The Early Years Systems Evidence (EYSE) team specialises in working in partnership with governments and service providers, with a distinct focus on improving the life chances of children in Australia.

The Wellbeing and Engagement Collection (WEC): Promoting the importance of students’ wellbeing and mental health in schools

o help raise the profile of student wellbeing in the education system in Australia, The Kids Research Institute Australia and SA Department for Education through the Fraser Mustard Centre, set out to adapt and trial a population-level student wellbeing measure that could be used across the entire public and p

Provision of Engagement Services for the AEDC

Support services to the Department of Education and Training and the AEDC State and Territory Coordinators and their support staff across Australia.

Language in Little Ones (LiLO)

The Language in Little Ones (LiLO) study is a five-year longitudinal study (2017-2021), funded through the National Health and Medical Research Council. The study investigates the quantity and quality of language exposure in the home environment during the first five years of a child’s life.