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Plasma Metabolite Profiles of Children with Autism Spectrum Disorder

Autism spectrum disorder (ASD), a neurodevelopmental condition characterised by social and communication differences, is complex and aetiologically heterogeneous. Untargeted metabolomics is emerging as a tool in screening for biochemical abnormalities. This research was conducted using the Australian Autism Biobank resource and involved analysis of plasma metabolites to characterise metabolite differences between autistic children and controls.

Characterizing Transdiagnostic Processes Underlying the Drive to Socially Engage: A Multimeasurement Factor Analytic Investigation

Altered drive to socially engage is a transdiagnostic feature across multiple psychopathologies. Yet, lack of clarity regarding specific processes that constitute social drive, along with insufficient measurement methods, has hindered understanding in this area. This study ascertained the feasibility of approximating difficulties within specific fine-grained social drive processes as proposed by 2 theoretical frameworks: “orienting,” “wanting,” “pursuing,” “liking,” “learning,” and “reticence” within a reward processing framework and “orienting,” “seeking and maintaining,” and “liking” within a social motivation framework.

Investigation of associations between self-reported sensory processing, eating disorder symptoms, neurodivergence, and gender congruence from a lived experience lens

Eating disorders (EDs) are increasingly recognised among neurodivergent and transgender and gender diverse (TGD) individuals, yet most assessment and treatment models remain grounded in cisnormative and neuronormative assumptions and frameworks. Sensory processing, spanning interoception and exteroception, has been proposed as a potential factor that may help explain observed associations between neurodivergent traits, gender incongruence, and EDs. 

Intellectual disability and autism prevalence in Western Australia: impact of the NDIS

Estimates of the prevalence of intellectual disability or autism spectrum disorder may vary depending on the methodology, geographical location, and sources of ascertainment. The National Disability Insurance Scheme in Australia was introduced progressively from 2016 to provide individualized funding for eligible people with a significant and permanent disability.

Reliability, Validity and Acceptability of the PEDI-CAT with ASD Scales for Australian Children and Youth on the Autism Spectrum

The PEDI-CAT (ASD) is used to assess functioning of children and youth on the autism spectrum; however, current psychometric evidence is limited. This study aimed to explore the reliability, validity and acceptability of the PEDI-CAT (ASD) using a large Australian sample. 

‘It depends entirely on the nature of those supports’: Community perceptions of the appropriateness of early support services for autistic children

We do not know much about what support services people think are okay for young autistic children. This study was a survey of 253 people. We asked autistic adults, parents, and professionals from Australia and New Zealand whether they thought it was okay to provide support services to autistic children. 

CRISPR-Cas9-generated PTCHD1 2489T>G stem cells recapitulate patient phenotype when undergoing neural induction

An estimated 3.5%-5.9% of the global population live with rare diseases, and approximately 80% of these diseases have a genetic cause. Rare genetic diseases are difficult to diagnose, with some affected individuals experiencing diagnostic delays of 5-30 years. Next-generation sequencing has improved clinical diagnostic rates to 33%-48%. In a majority of cases, novel variants potentially causing the disease are discovered. 

Investigating the impact of autistic children's feeding difficulties on caregivers

The aim of this study was to investigate the influence of children's autism characteristics, sensory profiles and feeding difficulties on caregiver-reported impact at mealtimes.

Child and Family Characteristics as Predictors of the Severity of Self-injurious Behaviours in Autistic Children and Adolescents

Autistic children demonstrate an increased likelihood of self-injurious behaviours (SIB). To support autistic individuals who exhibit SIB and understand the factors that contribute to SIB, we examined several child and family characteristics associated with the severity of SIB.

Evaluating placebo responses to intranasal oxytocin in autism: findings from the placebo lead-in phase of a randomised controlled trial

The placebo effect is established in clinical trials, but for paediatric research, questions remain about how to best manage its influence. Within the autism field, data on these issues is sparse. This is particularly important in the oxytocin field where placebo responses are thought to play an important role. This study reports on data from the single-blind, placebo lead-in phase of a randomised controlled trial to investigate the placebo response and its relationship to treatment response in autistic children.