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Research
The Lived Experience of Parents’ Receiving the Diagnosis of CDKL5 Deficiency Disorder for Their ChildCDKL5 deficiency disorder (CDD), a severe developmental and epileptic encephalopathy, is being diagnosed earlier with improved access to genetic testing, but this may also have unanticipated impacts on parents’ experience receiving the diagnosis. This study explores the lived experience of parents receiving a diagnosis of CDD for their child using mixed methods.
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Comparison of group A streptococcal titres in healthy children and those with pharyngitis and skin infectionsRates of acute rheumatic fever, a sequelae of group A Streptococcal (GAS) infection, remain unacceptably high in Indigenous Māori and Pacific children in New Zealand. This prospective study aimed to describe GAS antibody titres in healthy children (5–14 years) by ethnicity, and to determine how paired titres vary with GAS culture positive and negative pharyngitis, and GAS skin infections.
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Epidemiology of Rare Craniofacial Anomalies: Retrospective Western Australian Population Data Linkage StudyWe aimed to describe birth prevalence of rare craniofacial anomalies and associations with antenatal and perinatal factors. All live and stillbirths in Western Australia between 1980 and 2010 were identified from the Western Australian Birth Registrations and the Midwives Notification System (also provides information on antenatal and perinatal factors).
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Prescribing in a pediatric hospital setting – Lost in translation?To determine parental understanding of directions on common pediatric prescription pharmacy labels and to identify enablers and barriers that affect interpretation of these labels.
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Respiratory follow-up to improve outcomes for Aboriginal children: twelve key stepsAmong Aboriginal children, the burden of acute respiratory tract infections (ALRIs) with consequent bronchiectasis post-hospitalisation is high. Clinical practice guidelines recommend medical follow-up one-month following discharge, which provides an opportunity to screen and manage persistent symptoms and may prevent bronchiectasis.
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The FASTK family proteins fine-tune mitochondrial RNA processingTranscription of the human mitochondrial genome and correct processing of the two long polycistronic transcripts are crucial for oxidative phosphorylation. According to the tRNA punctuation model, nucleolytic processing of these large precursor transcripts occurs mainly through the excision of the tRNAs that flank most rRNAs and mRNAs.
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Diffuse Intrinsic Pontine GliomaThis chapter summarizes recent advances in diffuse intrinsic pontine glioma and potential novel therapies
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Measuring the impact of genetic knowledge on intentions and attitudes of the community towards expanded preconception carrier screeningHaving good genetic knowledge may not be enough to understand core concepts of preconception carrier screening
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Application of Inertial Measurement Units and Machine Learning Classification in Cerebral Palsy: Randomized Controlled TrialCerebral palsy (CP) is a physical disability that affects movement and posture. Approximately 17 million people worldwide and 34,000 people in Australia are living with CP. In clinical and kinematic research, goniometers and inclinometers are the most commonly used clinical tools to measure joint angles and positions in children with CP.
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‘Torn in two’: Experiences of Mothers Who Are Pregnant when Their Child Is Diagnosed With CancerMothers of children diagnosed with cancer have been shown to experience high rates of psychological distress and poor physical health. Pregnancy further increases the healthcare needs of mothers due to the marked physiological changes and psychological adaptations.