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Research

Bullying and mental health amongst Australian children and young people with cystic fibrosis

This study describes the peer bullying experiences of young people with CF, and examines associations between school bullying and the psychological well-being of these young people

Research

Is forced oscillation technique the next respiratory function test of choice in childhood asthma

While spirometry contributes to asthma diagnosis and management in older children, it has a limited role in younger children whom are unable to perform FOM.

Research

Telehealth for Audiological Management

This chapter focuses on the management of those with hearing impairment, and how tele-audiological tools and approaches may assist to improve service delivery

Research

Migration and work in postwar Australia: mortality profile comparisons between Australian and Italian workers exposed to blue asbestos at Wittenoom

330,000 Italians arrived in Australia between 1945 and 1966, many on assisted passage schemes where the worker agreed to a 2 year unskilled employment contract.

Research

Quantitative assessment of airway dimensions in young children with cystic fibrosis lung disease using chest computed tomography

To evaluate lung disease progression using AA dimensions on chest CT over 2-years in young CF patients longitudinally and compare to disease controls.

Research

A review of structural brain abnormalities in Pallister-Killian syndrome

PKS is a rare multisystem developmental syndrome usually caused by mosaic tetrasomy of chromosome 12p that is known to be associate with neurological defects.

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The rare and undiagnosed diseases diagnostic service – application of massively parallel sequencing in a state-wide clinical service

The Rare and Undiagnosed Diseases Diagnostic Service refers to a genomic diagnostic platform operating within the Genetic Services of Western Australia

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Influenza vaccine effectiveness and uptake in children at risk of severe disease

Participation in the preschool influenza vaccination program remains low with parents unconvinced of the benefits and safety of influenza vaccine

Research

Effects of ganaxolone on non-seizure outcomes in CDKL5 Deficiency Disorder: Double-blind placebo-controlled randomized trial

CDKL5 deficiency disorder (CDD) is a rare developmental and epileptic encephalopathy. Ganaxolone, a neuroactive steroid, reduces the frequency of major motor seizures in children with CDD. This analysis explored the effect of ganaxolone on non-seizure outcomes. 

Research

Patient-advocate-led global coalition adapting fit-for-purpose outcomes measures to assure meaningful inclusion of DEEs in clinical trials

Existing clinical tools that measure non-seizure outcomes lack the range and granularity needed to capture skills in developmental and epileptic encephalopathy (DEE)-affected individuals who also fall in the severe to profound range of intellectual disability. This effectively excludes those with severe impairments from clinical trials, impeding the ability of sponsors to evaluate disease-modifying therapies.