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Research

We investigate the construct validity, test re-test reliability, and responsiveness of the Wrist Position Sense Test (WPST) for children with hemiplegic cerebral palsy (CP).

Research

Exome sequencing has enabled molecular diagnoses for rare disease patients but often with initial diagnostic rates of ~25-30%. Here we develop a robust computational pipeline to rank variants for reassessment of unsolved rare disease patients. A comprehensive web-based patient report is generated in which all deleterious variants can be filtered by gene, variant characteristics, OMIM disease and Phenolyzer scores, and all are annotated with an ACMG classification and links to ClinVar.

Research

Exome sequencing is widely used in the diagnosis of rare genetic diseases and provides useful variant data for analysis of complex diseases. There is not always adequate population-specific reference data to assist in assigning a diagnostic variant to a specific clinical condition.

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During a pandemic when hospitals are stretched and patients need isolation, the role of hospital-in-the-home (HITH) providing acute medical care at home has never been more relevant. We aimed to define and address the challenges to acute home care services posed by the COVID-19 pandemic.

Research

Structural and numerical alterations of chromosome 21 are extremely common in hematological malignancies. While the functional impact of chimeric transcripts from fused chromosome 21 genes such as TEL-AML1, AML1-ETO, or FUS-ERG have been extensively studied, the role of gain of chromosome 21 remains largely unknown.

Research

PURPOSE: To develop a consensus statement for the prescription of a Powered Wheelchair Standing Device (PWSD) in young people with Duchenne muscular dystrophy (DMD). MATERIALS AND METHODS: An international multidisciplinary panel comprising clinicians and users (young people with DMD) along with their parents was consulted. A literature review was undertaken and a Delphi method was utilised to generate consensus statements.

Research

The aim of this prospective cohort study was to describe the anaesthetic practices, rates of postoperative pain and the recovery trajectory of children having urgent dental extractions at our institution.

Research

Human Respiratory Syncytial Virus and Human Rhinovirus are the most frequent cause of respiratory tract infections in infants and children and are major triggers of acute viral bronchiolitis, wheezing and asthma exacerbations.

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The advent of modern "omics" technologies (genomics, transcriptomics, proteomics, and metabolomics) are attributed to innovative breakthroughs in genome sequencing, bioinformatics, and analytic tools. An organism's biological structure and function is the result of the concerted action of single cells in different tissues.

Research

In a community-based birth cohort of 158 Australian infants followed to age 2 years, the incidence rate of human parainfluenza virus (HPIV) was 0.42 (95% CI = 0.33, 0.54) episodes per child-year with episodes occurring year-round, peaking in the spring season.