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Research
The cost of respiratory hospitalizations in children with cerebral palsyTo establish the burden of respiratory illness in cerebral palsy (CP) on the Western Australian health care system by quantifying the costs of respiratory hospitalizations in children with CP, compared with non-respiratory hospitalizations.
Research
Resting Energy Expenditure and Metabolic Features in Children With Septo-Optic DysplasiaSepto-optic dysplasia (SOD) is a major cause of congenital hypopituitarism and is known to be associated with overweight and obesity in up to 44% of children. Given the role of the hypothalamus in hormonal regulation, we sought to assess the association of resting energy expenditure (REE), appetite and physical activity with SOD.
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NHMRC funding awarded to support child health researchThe Kids Research Institute Australia researchers have been awarded more than $10 million in research funding from the National Health and Medical Research Council (NHMRC).
Research
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 SurveyCyclin-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.
Research
Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype–phenotype correlations and common mechanismsCornelia de Lange Syndrome (CdLS) is a rare, dominantly inherited multisystem developmental disorder characterized by highly variable manifestations of growth and developmental delays, upper limb involvement, hypertrichosis, cardiac, gastrointestinal, craniofacial, and other systemic features.
Research
Stepwise GATA1 and SMC3 mutations alter megakaryocyte differentiation in a Down syndrome leukemia modelAcute megakaryoblastic leukemia of Down syndrome (DS-AMKL) is a model of clonal evolution from a preleukemic transient myeloproliferative disorder requiring both a trisomy 21 (T21) and a GATA1s mutation to a leukemia driven by additional driver mutations.
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Australian children living with rare diseases: health service use and barriers to accessing careChildren with rare diseases experience challenges at home and school and frequently require multi-disciplinary healthcare. We aimed to determine health service utilization by Australian children with rare diseases and barriers to accessing healthcare.
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The neglect of a child with intellectual disability as reported in Australian news media: A Foucauldian discourse analysisPeople with intellectual disability experience a high risk of being neglected and family members are often identified as the perpetrators. Analysing the media provides insight into public narratives about social problems. A search of Australian newspapers published between 2016 and 2021 identified 27 articles that predominately reported on a single case of familial neglect of an individual with intellectual disability.
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Quality of life beyond diagnosis in intellectual disability – Latent profilingTo compare quality of life (QOL) across diagnoses associated with intellectual disability, construct QOL profiles and evaluate membership by diagnostic group, function and comorbidities.
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Towards a harmonized bronchopulmonary dysplasia definition: a study protocol for an international Delphi procedureBronchopulmonary dysplasia (BPD) remains the most common complication of preterm birth with lifelong consequences. Multiple BPD definitions are currently used in daily practice. Uniformity in defining BPD is important for clinical care, research and benchmarking. The aim of this Delphi procedure is to determine what clinicians and researchers consider the key features for defining BPD.