Search
Research
Absence of association between maternal adverse events and long-term gut microbiome outcomes in the Australian autism biobankMaternal immune activation and prenatal maternal stress are well-studied risk factors for psychiatric conditions such as autism and schizophrenia. Animal studies have proposed the gut microbiome as a mechanism underlying this association and have found that risk factor-related gut microbiome alterations persist in the adult offspring.
Research
Novel approaches to measuring cognition in individuals with severe to profound functional impairment: A pilot study in SCN2A-related disorderValid clinical outcome assessments with the ability to capture meaningful aspects of neurodevelopment for individuals with neurogenetic conditions associated with profound functional impairments are lacking, yet critical for clinical care and clinical trial readiness.
Research
Clinically Relevant Genes Identified in Cerebral Palsy Cohorts Following Evaluation of the Clinical Description and Phenotype: A Systematic ReviewA growing number of genes have been identified in individuals with cerebral palsy; however, many of these studies have poor compliance with the cerebral palsy clinical description. This systematic review aimed to assess the quality of the cerebral palsy clinical description/phenotype in cerebral palsy genetic studies published between 2010 and 2024 and report clinically relevant genes based on the quality of the cerebral palsy phenotype.
Research
Participation and quality of life among Australian children with developmental coordination disorderChildren with Developmental Coordination Disorder (DCD) experience difficulty in the acquisition and performance of movement skills, threatening participation and quality of life. Environmental influences on participation and quality of life were investigated in children with DCD and their neurotypical peers.
Research
Parent and therapist perspectives on "uptime" activities and participation in Rett syndromePeople with a disability may spend more time sitting and lying (“downtime”) and less time standing and walking (“uptime”). Caregivers and therapists supporting individuals with Rett syndrome were surveyed, aiming to gather insights on how to support participation in “uptime” activities.