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Research

Implementing a combined individual placement and support and vocational peer work program in integrated youth mental health settings

To describe the implementation and outcomes of a combined individual placement and support (IPS) and vocational peer work program for young people with mental ill-health.

Research

Anaesthesia related mortality data at a Tertiary Pediatric Hospital in Western Australia

Anaesthesia related mortality in paediatrics is rare. There are limited data describing paediatric anaesthesia related mortality. This study determined the anaesthesia related mortality at a Tertiary Paediatric Hospital in Western Australia.

Research

Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome

In 2014, germline signal transducer and activator of transcription (STAT) 3 gain-of-function (GOF) mutations were first described to cause a novel multisystem disease of early-onset lymphoproliferation and autoimmunity.

Research

FastMix: a versatile data integration pipeline for cell type-specific biomarker inference

Flow cytometry (FCM) and transcription profiling are the two widely used assays in translational immunology research. However, there is no data integration pipeline for analyzing these two types of assays together with experiment variables for biomarker inference.

Research

The Utility of Natural Language Samples for Assessing Communication and Language in Infants Referred with Early Signs of Autism

Natural Language Sampling (NLS) offers clear potential for communication and language assessment, where other data might be difficult to interpret. We leveraged existing primary data for 18-month-olds showing early signs of autism, to examine the reliability and concurrent construct validity of NLS-derived measures coded from video-of child language, parent linguistic input, and dyadic balance of communicative interaction-against standardised assessment scores. Using Systematic Analysis of Language Transcripts (SALT) software and coding conventions, masked coders achieved good-to-excellent inter-rater agreement across all measures.

Research

Toward better characterization of restricted and unusual interests in youth with autism

Despite being highly prevalent among people with autism, restricted and unusual interests remain under-researched and poorly understood. This article confirms that restricted interests are very frequent and varied among children and adolescents with autism. It also further extends current knowledge in this area by characterizing the relationship between the presence, number, and type of restricted interests with chronological age, sex, cognitive functioning, and social and communication symptoms.

Research

A Parent-Mediated Intervention for Newborns at Familial Likelihood of Autism: Initial Feasibility Study in the General Population

Developmental theory and previous studies support the potential value of prodromal interventions for infants at elevated likelihood of developing autism. Past research has supported the efficacy of parent-mediated prodromal therapies with infants from as early as 7 months. We outline the rationale for implementing interventions following this model from even earlier in development and report on the feasibility of a novel intervention developed following this model of parent-mediated infant interventions.

Research

Stepwise GATA1 and SMC3 mutations alter megakaryocyte differentiation in a Down syndrome leukemia model

Acute 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.

Research

3DFAACTS-SNP: using regulatory T cell-specific epigenomics data to uncover candidate mechanisms of type 1 diabetes (T1D) risk

Genome-wide association studies (GWAS) have enabled the discovery of single nucleotide polymorphisms (SNPs) that are significantly associated with many autoimmune diseases including type 1 diabetes (T1D). However, many of the identified variants lie in non-coding regions, limiting the identification of mechanisms that contribute to autoimmune disease progression.

Research

Modelled estimates of hospitalisations attributable to respiratory syncytial virus and influenza in Australia, 2009–2017

Respiratory syncytial virus (RSV) and influenza are important causes of disease in children and adults. In Australia, information on the burden of RSV in adults is particularly limited.