Development of an occupational therapy-led paediatric burn telehealth review clinic

Context: Burns are a common injury in children. Rural and remote children with burn injuries are disadvantaged if their burns require hospitalisation and specialist rehabilitation. Most specialist burn rehabilitation is provided in regional or metropolitan cities by a multidisciplinary team. Therefore, rural and remote burn patients are required to travel to access these services. This project aimed to develop an Occupational Therapy (OT)-Led Paediatric Burn Telehealth Review Clinic (OTPB Clinic) at Townsville University Hospital (TUH) to provide ongoing rehabilitation to rural and remote children after burn injury closer to home. Issues: Local audits identified inequitable service delivery to children from rural and remote areas after burn injury. A project officer was appointed to develop the OTPB Clinic, including comprehensive guidelines to support sustainability. An expanded scope role was undertaken by the treating OT, and allied health assistants were engaged to promote efficient service delivery. Lessons learned: The OTPB Clinic commenced in 2017 and was evaluated using patient satisfaction surveys and number of clinical encounters pre- and post-implementation. During the implementation period, 28 rural or remote paediatric burn patients were reviewed. Review frequency increased from 20-week to 8-week intervals. Travel time was reduced by approximately 12 hours per appointment. Families identified numerous benefits of the clinic including continuity of care and reduced time away from work. Less than 4% of patients required re-engagement with paediatric surgeons for surgical intervention. The model has the potential to be transferred to other tertiary referral burns services

Evaluation of an occupational therapy led Paediatric Burns Telehealth Review Clinic: exploring the experience of family/carers and clinicians

Introduction: Children with deep-partial or full-thickness burns often require complicated post-surgical care and rehabilitation, including specialist occupational therapy (OT) intervention, to achieve optimal outcomes. Those from rural and remote areas rarely have access to these services and must travel to a tertiary referral hospital to access follow-up, placing them at higher risk of complications and poorer outcomes. The OT-Led Paediatric Burn Telehealth Review (OTPB) Clinic, based at Townsville University Hospital in northern Queensland, Australia, was set up to address this inequity. The aim of this study was to investigate the experience of both family members and clinicians in using the OTPB Clinic. Methods: A qualitative approach, guided by interpretive phenomenology, was used. Eight family members and six clinicians participated in semi-structured interviews conducted by phone or telehealth. Thematic analysis was used to identify key themes. Results: Four major themes were derived through thematic analysis: continuity of care, family-centred care, technology and building of rural capacity. Conclusion: Family and clinicians confirm benefits of a telehealth service for delivering care to rural and remote children after burn injury. The results show this expanded-scope, OT-led telehealth model provides quality patient-centred and expert clinical advice within local communities and builds the skill and capacity of local clinicians. Areas for service enhancement were uncovered. This telehealth model can be translated to other clinical subspecialties across Australia

Allocating the Burdens of Climate Action: Consumption-Based Carbon Accounting and the Polluter-Pays Principle

Action must be taken to combat climate change. Yet, how the costs of climate action should be allocated among states remains a question. One popular answer—the polluter-pays principle (PPP)—stipulates that those responsible for causing the problem should pay to address it. While intuitively plausible, the PPP has been subjected to withering criticism in recent years. It is timely, following the Paris Agreement, to develop a new version: one that does not focus on historical production-based emissions but rather allocates climate burdens in proportion to each state’s annual consumption-based emissions. This change in carbon accounting results in a fairer and more environmentally effective principle for distributing climate duties

Considering the role of cognitive control in expert performance

© 2014, Springer Science+Business Media Dordrecht. Dreyfus and Dreyfus’ (1986) influential phenomenological analysis of skill acquisition proposes that expert performance is guided by non-cognitive responses which are fast, effortless and apparently intuitive in nature. Although this model has been criticised (e.g., by Breivik Journal of Philosophy of Sport, 34, 116–134 2007, Journal of the Philosophy of Sport, 40, 85–106 2013; Eriksen 2010; Montero Inquiry:An interdisciplinary Journal of Philosophy, 53, 105–122 2010; Montero and Evans 2011) for over-emphasising the role that intuition plays in facilitating skilled performance, it does recognise that on occasions (e.g., when performance goes awry for some reason) a form of ‘detached deliberative rationality’ may be used by experts to improve their performance. However, Dreyfus and Dreyfus (1986) see no role for calculative problem solving or deliberation (i.e., drawing on rules or mental representations) when performance is going well. In the current paper, we draw on empirical evidence, insights from athletes, and phenomenological description to argue that ‘continuous improvement’ (i.e., the phenomenon whereby certain skilled performers appear to be capable of increasing their proficiency even though they are already experts; Toner and Moran 2014) among experts is mediated by cognitive (or executive) control in three distinct sporting situations (i.e., in training, during pre-performance routines, and while engaged in on-line skill execution). We conclude by arguing that Sutton et al. Journal of the British Society for Phenomenology, 42, 78–103 (2011) ‘applying intelligence to the reflexes’ (AIR) approach may help to elucidate the process by which expert performers achieve continuous improvement through analytical/mindful behaviour during training and competition

Prevalence and architecture of de novo mutations in developmental disorders.

The genomes of individuals with severe, undiagnosed developmental disorders are enriched in damaging de novo mutations (DNMs) in developmentally important genes. Here we have sequenced the exomes of 4,293 families containing individuals with developmental disorders, and meta-analysed these data with data from another 3,287 individuals with similar disorders. We show that the most important factors influencing the diagnostic yield of DNMs are the sex of the affected individual, the relatedness of their parents, whether close relatives are affected and the parental ages. We identified 94 genes enriched in damaging DNMs, including 14 that previously lacked compelling evidence of involvement in developmental disorders. We have also characterized the phenotypic diversity among these disorders. We estimate that 42% of our cohort carry pathogenic DNMs in coding sequences; approximately half of these DNMs disrupt gene function and the remainder result in altered protein function. We estimate that developmental disorders caused by DNMs have an average prevalence of 1 in 213 to 1 in 448 births, depending on parental age. Given current global demographics, this equates to almost 400,000 children born per year

Para-infectious brain injury in COVID-19 persists at follow-up despite attenuated cytokine and autoantibody responses

To understand neurological complications of COVID-19 better both acutely and for recovery, we measured markers of brain injury, inflammatory mediators, and autoantibodies in 203 hospitalised participants; 111 with acute sera (1–11 days post-admission) and 92 convalescent sera (56 with COVID-19-associated neurological diagnoses). Here we show that compared to 60 uninfected controls, tTau, GFAP, NfL, and UCH-L1 are increased with COVID-19 infection at acute timepoints and NfL and GFAP are significantly higher in participants with neurological complications. Inflammatory mediators (IL-6, IL-12p40, HGF, M-CSF, CCL2, and IL-1RA) are associated with both altered consciousness and markers of brain injury. Autoantibodies are more common in COVID-19 than controls and some (including against MYL7, UCH-L1, and GRIN3B) are more frequent with altered consciousness. Additionally, convalescent participants with neurological complications show elevated GFAP and NfL, unrelated to attenuated systemic inflammatory mediators and to autoantibody responses. Overall, neurological complications of COVID-19 are associated with evidence of neuroglial injury in both acute and late disease and these correlate with dysregulated innate and adaptive immune responses acutely

Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.

The occurrence of non-epileptic hyperkinetic movements in the context of developmental epileptic encephalopathies is an increasingly recognized phenomenon. Identification of causative mutations provides an important insight into common pathogenic mechanisms that cause both seizures and abnormal motor control. We report bi-allelic loss-of-function CACNA1B variants in six children from three unrelated families whose affected members present with a complex and progressive neurological syndrome. All affected individuals presented with epileptic encephalopathy, severe neurodevelopmental delay (often with regression), and a hyperkinetic movement disorder. Additional neurological features included postnatal microcephaly and hypotonia. Five children died in childhood or adolescence (mean age of death: 9 years), mainly as a result of secondary respiratory complications. CACNA1B encodes the pore-forming subunit of the pre-synaptic neuronal voltage-gated calcium channel Cav2.2/N-type, crucial for SNARE-mediated neurotransmission, particularly in the early postnatal period. Bi-allelic loss-of-function variants in CACNA1B are predicted to cause disruption of Ca2+ influx, leading to impaired synaptic neurotransmission. The resultant effect on neuronal function is likely to be important in the development of involuntary movements and epilepsy. Overall, our findings provide further evidence for the key role of Cav2.2 in normal human neurodevelopment.MAK is funded by an NIHR Research Professorship and receives funding from the Wellcome Trust, Great Ormond Street Children's Hospital Charity, and Rosetrees Trust. E.M. received funding from the Rosetrees Trust (CD-A53) and Great Ormond Street Hospital Children's Charity. K.G. received funding from Temple Street Foundation. A.M. is funded by Great Ormond Street Hospital, the National Institute for Health Research (NIHR), and Biomedical Research Centre. F.L.R. and D.G. are funded by Cambridge Biomedical Research Centre. K.C. and A.S.J. are funded by NIHR Bioresource for Rare Diseases. The DDD Study presents independent research commissioned by the Health Innovation Challenge Fund (grant number HICF-1009-003), a parallel funding partnership between the Wellcome Trust and the Department of Health, and the Wellcome Trust Sanger Institute (grant number WT098051). We acknowledge support from the UK Department of Health via the NIHR comprehensive Biomedical Research Centre award to Guy's and St. Thomas' National Health Service (NHS) Foundation Trust in partnership with King's College London. This research was also supported by the NIHR Great Ormond Street Hospital Biomedical Research Centre. J.H.C. is in receipt of an NIHR Senior Investigator Award. The research team acknowledges the support of the NIHR through the Comprehensive Clinical Research Network. The views expressed are those of the author(s) and not necessarily those of the NHS, the NIHR, Department of Health, or Wellcome Trust. E.R.M. acknowledges support from NIHR Cambridge Biomedical Research Centre, an NIHR Senior Investigator Award, and the University of Cambridge has received salary support in respect of E.R.M. from the NHS in the East of England through the Clinical Academic Reserve. I.E.S. is supported by the National Health and Medical Research Council of Australia (Program Grant and Practitioner Fellowship)

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.

We delineate a KMT2E-related neurodevelopmental disorder on the basis of 38 individuals in 36 families. This study includes 31 distinct heterozygous variants in KMT2E (28 ascertained from Matchmaker Exchange and three previously reported), and four individuals with chromosome 7q22.2-22.23 microdeletions encompassing KMT2E (one previously reported). Almost all variants occurred de novo, and most were truncating. Most affected individuals with protein-truncating variants presented with mild intellectual disability. One-quarter of individuals met criteria for autism. Additional common features include macrocephaly, hypotonia, functional gastrointestinal abnormalities, and a subtle facial gestalt. Epilepsy was present in about one-fifth of individuals with truncating variants and was responsive to treatment with anti-epileptic medications in almost all. More than 70% of the individuals were male, and expressivity was variable by sex; epilepsy was more common in females and autism more common in males. The four individuals with microdeletions encompassing KMT2E generally presented similarly to those with truncating variants, but the degree of developmental delay was greater. The group of four individuals with missense variants in KMT2E presented with the most severe developmental delays. Epilepsy was present in all individuals with missense variants, often manifesting as treatment-resistant infantile epileptic encephalopathy. Microcephaly was also common in this group. Haploinsufficiency versus gain-of-function or dominant-negative effects specific to these missense variants in KMT2E might explain this divergence in phenotype, but requires independent validation. Disruptive variants in KMT2E are an under-recognized cause of neurodevelopmental abnormalities

Commentary: Rehabilitation for Rural and Remote Residents Following a Traumatic Hand Injury

A traumatic hand injury can involve damage to a number of structures including skin, nerves, tendons, muscle bone, and soft tissue. Impairments such as pain or stiffness and loss of range of motion can last for many years and result in a moderate to extreme impact on a person’s day-to-day life. Work, leisure, financial security, and emotional well-being often most affected. This commentary provides an analysis of those factors that inhibit (barriers) and support (enablers) the provision of hand therapy rehabilitation in rural and remote areas. Providing a collaborative and flexible rehabilitation programme to rural and remote residents following a traumatic hand injury can be seen as a challenge due to issues such as a limited access to health care services. Established protocols that work in regional or metropolitan locations are unlikely to be effective and innovative and pragmatic strategies are required. The provision of a collaborative and flexible rehabilitation programme regardless of residential location is an important part of the therapist’s intervention plan

A critical review of the evidence on the use of videotapes or DVD to promote patient compliance with home programmes

Purpose:\ud The purpose of this paper is to critically review published research in order to evaluate the evidence surrounding the provision of video or DVD technology to promote patient compliance with home exercise or health programmes.\ud \ud Method:\ud A literature search of the MEDLINE, CINAHL and Cochrane databases was undertaken. Critical appraisal of\ud selected studies was undertaken using a previously validated tool. Inclusion criteria were: research related to DVD or videotape technology to improve compliance; published in peer-reviewed journals and full-text English language articles. Compliance was the main outcome measure.\ud \ud Results:\ud Eleven eligible studies were reviewed. All but one, which used a before–after design, were randomised controlled trials. Study quality tended medium to high in the critical appraisal scoring system, but an overall low quality on the Jadad score for randomisation; with only one study from 11 scoring well on both these measures. Research into the use of video or DVD showed mainly positive effects on compliance; however, methodological issues limit clinical applicability.\ud \ud Conclusions:\ud Future well-designed randomised controlled trials with adequate sample sizes and reliable outcome measures will provide clearer evidence into the effectiveness of this technology in improving home exercise or health programme compliance, particularly for rural and remote populations