Paediatrics (RCH) - Theses
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ItemTuberous sclerosis complex and autism spectrum disorder: phenotypic presentation and associated clinical factors( 2022)Background: Tuberous sclerosis complex (TSC) is an autosomal dominant, multisystem, genetic condition with variable disease severity, due to pathogenic variants in TSC1 or TSC2, which disrupt the mTOR pathway. Neurological morbidity, including seizures and structural brain changes, occur in most people. Seizures commonly present during the first three years of life and infantile spasms occur in around one third of children. Autism spectrum disorder (ASD) and intellectual disability (ID) are reported in half of TSC affected people. When this PhD commenced, it was unclear if ASD in TSC was similar to ASD without a co-existing medical condition, that is ‘idiopathic’ ASD, and if TSC clinical factors contributed to ASD like they impact on ID. Research had shown early seizure-onset, infantile spasms, TSC2 variant, and tubers to be potentially associated with ASD in TSC. However, findings were mixed, and many studies employed weak methods for ASD categorisation. A systematic and comprehensive investigation had not been undertaken. Aims: This thesis aimed to (A) define the autism phenotype in children with TSC and (B) investigate the major clinical factors: (1) seizures and associated factors, (2) genetic factors, (3) structural brain changes, and (4) individual child characteristics, associated with ASD outcome in TSC. Methods: Two systematic reviews with meta-analyses, methodically and comprehensively summarised the literature about (1) the TSC-ASD phenotype and (2) the TSC clinical, EEG, imaging and genetic factors reportedly associated with ASD. The systematic reviews informed development of a cohort study with 50 children which undertook robust ASD assessment and developmental phenotyping in children with TSC and investigated associations between ASD with TSC factors. Results: Systematic review and meta-analysis found 90 percent of children with TSC-ASD had ID, but little was reported about other phenotypic aspects. The cohort study found children with TSC-ASD had moderate ASD severity and typical characteristics, although most had severe ID. Co-occurring language disorder, ADHD, executive dysfunction and externalising behaviours occurred in most, and internalising behaviour in one-third. Systematic review and meta-analysis found significant associations between TSC-ASD and history of seizures (OR 3.79), seizure-onset in infancy (OR 2.65), infantile spasms (OR 3.04), and male sex, (OR 1.62). Seizure-related associations were not significant in the cohort study, but the trends were similar. Incorporation of cohort study data with the meta-analysis led to a significant association between TSC-ASD and TSC2 variant, (OR 1.95). Tuber burden was not associated with TSC-ASD in the systematic review meta-analysis or cohort study. Conclusion: Clarification of the TSC-ASD phenotype enables better counselling for families of affected children and improved early intervention planning. Early life seizures and TSC2 variant are likely important pathways to TSC-ASD. The role of cortical tubers is likely to be indirect, via seizures. Research following large TSC-ASD cohorts from infancy throughout childhood, measuring all relevant variables, will assist with disentangling the relationships. Studies investigating interventions targeting possible aetiological factors will be of significant value, aiding the understanding of causation and potentially improving developmental outcomes.
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ItemUsing simulation-based education to teach hospital staff how to manage behavioural emergencies in children with autism( 2020)Behavioural emergencies due to high-risk behaviours are increasing globally in paediatric health care settings and place the child, their family, other inpatients and staff at high-risk of harm. High-risk behaviours have been reported in up to two thirds of children with autism spectrum disorder (ASD) and intellectual disability (ID). Admission to hospital can trigger high-risk behaviours in children, especially those with ASD or ID, and increase their intensity or frequency. Patient and staff safety can be compromised if staff are not confident or competent in managing aggressive outbursts. As well as the safety risks, these behaviours result in delayed treatment, prolonged procedure times, increased health care costs and poorer health outcomes. Having a critical mass of well-trained staff who are confident in preventing and managing behavioural emergencies is important. However, these skills may be beyond the usual scope of practice of the acute paediatric health care provider. Paediatric acute health care is a complex specialty encompassing children with a wide range of developmental levels who operate within an array of unique family-centred care systems. Staff need many and varied skills and strategies that can be adapted to effectively interact with the spectrum of ages, developmental stages, neurodiversity and parental/carer involvement experienced in the acute paediatric setting. Simulation-based education (SBE) has been found to be superior to traditional clinical medical education for clinical skill acquisition and is gaining acceptance as a training method for teaching skills in managing clinical aggression. Simulation training allows practice of skills without patient risk and may be more effective than traditional teaching formats for aggression management. The aim of this thesis is to better understand the cause of behavioural emergencies caused by children in hospital and to use this knowledge to develop, implement and evaluate a simulation-based training program for acute care paediatric staff on managing aggression in children with ASD or ID. The program of research was established with four objectives linked to four independent studies, each informing the next. First, we conducted a systematic review to assess the effectiveness of simulation-based training for increasing de-escalation knowledge, skills and behaviour of staff working in the acute care setting. Second, we conducted a one-year retrospective study of behavioural emergencies that triggered an emergency response team attendance in a quaternary paediatric hospital to understand their frequency, type, context and management. Third, we designed a simulation-based education session about prevention and management of aggression in a neurotypical adolescent. We used a proof-of-concept study design to evaluate the acceptability of this training and to gain an understanding of the impact on participants’ self-perceived confidence levels in managing clinical aggression. Fourth, we designed a more specific simulation training program about management of aggression and high-risk behaviours in adolescents with ASD and ID in the hospital setting. Our final study was a pilot and feasibility cluster randomised controlled trial (RCT) of this simulation-based education, with mixed method design. Understanding aggression and high-risk behaviours in paediatric health care settings is an emerging area of research. The findings of these four studies have increased our understanding of the prevention and management of aggression and high-risk behaviours in acute care paediatric settings. Simulation-based education could become an important part of a multi-faceted strategy that is now needed to reduce the prevalence of high-risk behaviours in acute care settings and paediatric hospitals, and to improve outcomes if behavioural emergencies occur. Further evaluation of this training format for managing high-risk behaviours (including aggression), in children with ASD and ID is required. As well as simulation education, features of provider and patient systems need to be considered when formulating solutions to this complex issue in the paediatric acute care setting.