Childhood conditions that feature developmental regression are poorly understood. Phenotype-genotype characterization and diagnostic yield data are needed to inform clinical decision-making. The aim of this study was to report the conditions featuring developmental regression and assess diagnostic yields of investigations.
View Article and Find Full Text PDFUncovering the molecular mechanisms of autism spectrum disorder (autism) necessitates development of relevant experimental models that are capable of recapitulating features of the clinical phenotype. Using non-integrative episomal vectors, peripheral blood mononuclear cells derived from three unrelated individuals diagnosed with autism were reprogrammed to induced pluripotent stem cells (iPSCs). The resultant lines exhibited the expected cellular morphology, karyotype, and evidence of pluripotency.
View Article and Find Full Text PDFBackground: ASD and ADHD are prevalent neurodevelopmental disorders that frequently co-occur and have strong evidence for a degree of shared genetic aetiology. Behavioural and neurocognitive heterogeneity in ASD and ADHD has hampered attempts to map the underlying genetics and neurobiology, predict intervention response, and improve diagnostic accuracy. Moving away from categorical conceptualisations of psychopathology to a dimensional approach is anticipated to facilitate discovery of data-driven clusters and enhance our understanding of the neurobiological and genetic aetiology of these conditions.
View Article and Find Full Text PDFParents of children with ASD who had attended an Australian emergency department (ED; n = 421) completed a questionnaire relating to their experiences in the ED, including (1) child's reason for presentation and existing comorbidities, (2) quality of care during the visit (3) child's behaviour during visit, e.g. sensory responses to the ED environment, and disruptive behaviours.
View Article and Find Full Text PDFArch Dis Child
September 2018
Objective: This study investigated the associations between maternal symptoms of attention deficit hyperactivity disorder (ADHD) and child functional outcomes in a community-based sample of children with and without ADHD.
Design And Setting: In this cohort study, children with ADHD and healthy controls were recruited through schools in Melbourne, Australia, using a combined screening (Conners 3 ADHD Index) and case confirmation (Diagnostic Interview Schedule for Children Version IV) procedure.
Patients: 117 children with ADHD and 149 control children were included in the analyses.