Psychosocial experiences of clinicians providing care for children with severe neurological impairment.

AIM: To investigate clinicians' psychosocial experiences navigating interdisciplinary care for children with severe neurological impairment (SNI), for example children with a developmental epileptic encephalopathy; secondarily, to identify preferences for future interventions to support clinicians caring for children with SNI. METHOD: We conducted a qualitative descriptive study with interdisciplinary clinicians by using a purposeful sampling recruitment strategy. Twenty-four participants with expertise caring for children with SNI completed in-depth, semi-structured interviews. We transcribed the interviews, de-identified them, and performed inductive thematic analysis. RESULTS: Thematic analysis elicited interrelated themes. Clinicians experienced immense professional barriers providing patient-centred care across fragmented healthcare contexts. Physical, emotional, and psychological impacts were attributed to inadequate reflective practice training and a paucity of integrated resources to support clinicians over time. Multipronged strategies were prioritized by clinicians, incorporating psychoeducation, interdisciplinary peer mentorship, and psychological resources to build reflective practice skills for clinicians providing complex care in an advancing era of medicine. INTERPRETATION: This study provides novel and in-depth insight into clinicians' experiences navigating care for children with SNI. The results will be used to inform future integrated and multipronged co-developed resources tailored for clinicians, on the basis of their recommendations.

The psychosocial impact of childhood dementia on children and their parents: a systematic review.

BACKGROUND: Childhood dementias are a group of rare and ultra-rare paediatric conditions clinically characterised by enduring global decline in central nervous system function, associated with a progressive loss of developmentally acquired skills, quality of life and shortened life expectancy. Traditional research, service development and advocacy efforts have been fragmented due to a focus on individual disorders, or groups classified by specific mechanisms or molecular pathogenesis. There are significant knowledge and clinician skill gaps regarding the shared psychosocial impacts of childhood dementia conditions. This systematic review integrates the existing international evidence of the collective psychosocial experiences of parents of children living with dementia. METHODS: We used the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. We systematically searched four databases to identify original, peer-reviewed research reporting on the psychosocial impacts of childhood dementia, from the parent perspective. We synthesised the data into three thematic categories: parents' healthcare experiences, psychosocial impacts, and information and support needs. RESULTS: Nineteen articles met review criteria, representing 1856 parents. Parents highlighted extensive difficulties connecting with an engaged clinical team and navigating their child's rare, life-limiting, and progressive condition. Psychosocial challenges were manifold and encompassed physical, economic, social, emotional and psychological implications. Access to coordinated healthcare and community-based psychosocial supports was associated with improved parent coping, psychological resilience and reduced psychological isolation. Analysis identified a critical need to prioritize access to integrated family-centred psychosocial supports throughout distinct stages of their child's condition trajectory. CONCLUSION: This review will encourage and guide the development of evidence-based and integrated psychosocial resources to optimise quality of life outcomes for of children with dementia and their families.

Evidence-Based Mind-Body Interventions for Children and Adolescents with Functional Neurological Disorder.

LEARNING OBJECTIVES: • Develop and implement treatment plans for children and adolescents with functional neurological disorder (FND)• Outline a plan to increase awareness and standardize the care for patients with FND using evidence-based interventions. ABSTRACT: Functional neurological disorder (FND) in children and adolescents involves the biological embedding of lived experience in the body and brain. This embedding culminates in stress-system activation or dysregulation and in aberrant changes in neural network function. In pediatric neurology clinics, FND represents up to one-fifth of patients. Current research shows good outcomes with prompt diagnosis and treatment using a biopsychosocial, stepped-care approach. At present, however-and worldwide-FND services are scarce, the result of long-standing stigma and ingrained belief that patients with FND do not suffer from a real ("organic") disorder and that they therefore do not require, or even deserve, treatment. Since 1994, the Mind-Body Program for children and adolescents with FND at The Children's Hospital at Westmead in Sydney, Australia-run by a consultation-liaison team-has delivered inpatient care to hundreds of patients with FND and outpatient care to hundreds of others. For less-disabled patients, the program enables community-based clinicians to implement biopsychosocial interventions locally by providing a positive diagnosis (by a neurologist or pediatrician), a biopsychosocial assessment and formulation (by clinicians from the consultation-liaison team), a physical therapy assessment, and clinical support (from the consultation-liaison team and the physiotherapist). In this Perspective we describe the elements of a biopsychosocial mind-body program intervention capable of providing, as needed, effective treatment to children and adolescents with FND. Our aim is to communicate to clinicians and institutions around the world what is needed to establish effective community treatment programs, as well as hospital inpatient and outpatient interventions, in their own health care settings.

Understanding the ongoing learning needs of Australian paediatricians: Evaluation of a pilot paediatric video teaching programme.

AIM: The purpose of this study was to evaluate whether pre-recorded video-based lectures (VBLs) covering a range of paediatric topics are an acceptable means of providing ongoing education for consultant and trainee paediatricians in Australia. METHODS: Previous participants (paediatric consultants and junior medical officers) of a neurology outreach teleconference programme offered by a paediatric neurologist between 2017 and 2020 were invited to participate in a multi-specialty pre-recorded video-based education programme. Acceptability was explored by assessing relevance, likelihood of utilising VBL's in the future, uptake and learning activity preferences. The impact of VBLs on confidence, currency and practice was also explored. Additional data including topics of interest, preferred video format, duration, viewing method and frequency of delivery were captured, to better understand participant preferences to inform future efforts. RESULTS: A total of 135 consented; 116 returned baseline; 94 returned follow-up surveys. Preferred learning activities included a live/interactive component. Videos were considered relevant. Preferences for pre-recorded videos improved from ninth to sixth most preferred learning activity post-intervention. VBL convenience and accessibility were valued. Practice was altered in: approach to management, use of treatments, confidence in decision-making, and discussion with families and patients. The average view duration was 16 min. Longer videos yielded slightly lower audience retention rates. For future offerings, the majority endorsed a preference for a 'mixed' video format and duration of 20-40 min, offered monthly. CONCLUSION: Video-based medical education is an appealing and sustainable alternative, given the convenience of unrestricted accessibility, in meeting ongoing learning needs of Australian paediatricians and trainees.

Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.

Missense and truncating variants in the X-chromosome-linked CLCN4 gene, resulting in reduced or complete loss-of-function (LOF) of the encoded chloride/proton exchanger ClC-4, were recently demonstrated to cause a neurocognitive phenotype in both males and females. Through international clinical matchmaking and interrogation of public variant databases we assembled a database of 90 rare CLCN4 missense variants in 90 families: 41 unique and 18 recurrent variants in 49 families. For 43 families, including 22 males and 33 females, we collated detailed clinical and segregation data. To confirm causality of variants and to obtain insight into disease mechanisms, we investigated the effect on electrophysiological properties of 59 of the variants in Xenopus oocytes using extended voltage and pH ranges. Detailed analyses revealed new pathophysiological mechanisms: 25% (15/59) of variants demonstrated LOF, characterized by a "shift" of the voltage-dependent activation to more positive voltages, and nine variants resulted in a toxic gain-of-function, associated with a disrupted gate allowing inward transport at negative voltages. Functional results were not always in line with in silico pathogenicity scores, highlighting the complexity of pathogenicity assessment for accurate genetic counselling. The complex neurocognitive and psychiatric manifestations of this condition, and hitherto under-recognized impacts on growth, gastrointestinal function, and motor control are discussed. Including published cases, we summarize features in 122 individuals from 67 families with CLCN4-related neurodevelopmental condition and suggest future research directions with the aim of improving the integrated care for individuals with this diagnosis.

Helping Young People in Out-of-Home Care: Basic Elements.

Children and adolescents (young people) who experience maltreatment early in life and are subsequently placed in out-of-home care (OOHC) are specifically at risk for poor mental health outcomes.1 Although rates vary by survey and location, up to half of these young people have clinical-level mental health difficulties, and another 20% to 25% have difficulties approaching clinical significance.2 These difficulties are characterized by high symptom complexity and severity, and include maltreatment-related mental health symptoms.2 Many young people in OOHC are difficult to engage with and retain in treatment, compounded by a lack of specialized mental health services3 and a history of problematic social interactions with supports.4 They are often reluctant to seek help because of stigmatization and confidentiality concerns, limited opportunities for decision making, service inaccessibility, distrust of mental health services, and their perception that professionals do not understand their circumstances.5 We propose 6 clinical practice modifications for mental health services working with young people in OOHC to enhance therapeutic engagement and to maximize their therapeutic outcomes.

Hope in the uncertainties and certainty for parents of children with rare neurological disorders: Part 3 (of 3): Hope.

This is the third article of a three-part series and addresses how clinicians provide hopefulness meaningfully to families coping with life-limiting and quality of life impairing neurological conditions. The first two articles addressed the enormous challenges faced by carers and also explored the struggles of clinicians trying to provide relief and comfort. Can these families, and those helping clinically, legitimately hope? It is expectation that consolidates desire into a substantial hope that may motivate finding a way forward. Hope must be realistic and directed to something in particular and in someone in particular. Hope and despair are not monolithic but often travel together for both children, families and clinicians. Hope is not denial but a belief that there are positive possibilities. Finding what can be helpfully hoped for and what must be realistically despaired of, is the discerning struggle. Clinicians aim to change what we can and accept what we cannot. Acceptance and grief are arrived at slowly for carers and families. Similarly, clinicians struggle with the hopes of bringing meaningful solace and are supported by trusted colleagues who have shared the same experience. Clinicians strive to respond appropriately and effectively in a dynamic process based on trust, providing presence and compassion when cure is not possible. Clinicians help find the small doable things that foster hope and lessen isolation and abandonment, mindful of the limits of their medical expertise. Surprisingly these modest hopes and faltering acceptances often provide a different form of strength and comfort to sustain a family.

Hope in the uncertainties and certainty for parents of children with rare neurological disorders: Part 2 (of 3): Certainty.

This is the second of a three-part series that explores different aspects of uncertainty, certainty and hope in the context of providing clinical care for children with rare and life-limiting neurological disorders. When caring for families impacted by an overwhelming complex disorder in a child, complicated by threatening uncertainties and potentially more threatening certainties, clinicians utilise skills drawn from differing fields to make the load of information, and the emotional impact more manageable. The first article in this series addressed how clinicians might manage the 'accumulation of uncertainties' and to provide compassionate care not only to their patients, and their families, but also to themselves. This second paper delves into the less helpful aspects of 'certainty', including the associated losses and griefs endured by parents responding to threatening fears associated with their child's condition. In the extreme, disconnection and psychological isolation borne by parents can lead to a sense of hopelessness and desperation. Facing unwelcome certainties - clinicians and parents together - forms the basis of future trust and hope. Clinicians who share the field of trust with families and show commitment to helping parents, even when cure remains elusive, build a sense of hope. This is the sort of hopefulness that clinicians need to have and to offer as they share the journey with families. In this series, we seek to harness a shared approach to face unwelcome certainties and to kindle a sense of hope that is both credible and meaningful to the parents, family and clinician.

Hope in the uncertainties and certainty for parents of children with rare neurological disorders. Part I (of 3): Uncertainty.

This is the first of three articles exploring the aspects of clinical care for children with rare neurological disorders including uncertainties old and new. The disruptive technologies of genomic sequencing and advanced therapeutics such as gene-based therapies offer parents of children with severe but rare neurological conditions for the first-time unprecedented opportunities for 'precision medicine'. At the same time, the realities of limited genomic diagnostic yields and not infrequent detection of variants of uncertain significance, lack of natural history study data and management guidelines for individually rare neurogenetic conditions, means that high pre-genomic test expectations are all too often replaced by an accumulation of new uncertainties. This can add to the chronic traumatic stress experienced by many families but may also have under-recognised impacts for their clinicians, contributing to 'burn-out' and attendant negative psychosocial impacts. This first article aims to address how clinicians might manage the accumulation of uncertainties to be more helpful to patients and their families. Moreover, it seeks to address how clinicians can move forward providing compassionate care to their patients and a little more consideration for themselves.

Piloting positive psychology resources for caregivers of a child with a genetic developmental and epileptic encephalopathy.

Developmental and epileptic encephalopathies (DEEs) are chronic and life-threatening conditions, frequently with a genetic basis and infantile-onset. Caregivers often experience enduring distress adapting to their child's diagnosis and report a deficit of accessible psychological supports. We aimed to pilot a novel, empirically-driven suite of audio-visual positive psychology resources tailored for caregivers of children with a DEE, called 'Finding a Way'. METHODS: We recruited caregivers through two paediatric hospital databases, and we also shared an invitation to the online questionnaire via genetic epilepsy advocacy organisations. The online questionnaire included a combination of validated, purpose-designed, and open-ended questions to assess the acceptability, relevance, and emotional impact of the resources among caregivers. RESULTS: 167 caregivers from 18 countries reviewed the resources, with 56 caregivers completing over 85% of the evaluation. Caregivers rated the resources as highly acceptable and relevant to their experiences. In both the quantitative and qualitative data, caregivers reported that the resources normalised their emotional experiences and provided helpful suggestions about managing their personal relationships, seeking support and accepting help from others. Frequently reported emotional responses after viewing the resources included feeling "comforted", "hopeful", "connected" and "reassured". Suggestions for improvement included, expanding the suite of resources and embedding the resources with links to specialised psychological services. CONCLUSION: 'Finding a Way' is a novel codesigned suite of audio-visual positive psychology resources tailored for caregivers of children with DEEs. Our results suggest that 'Finding a Way' is acceptable to caregivers and may contribute towards enhanced emotional adaptation and coping.

Hearing parents' voices: A priority-setting workshop to inform a suite of psychological resources for parents of children with rare genetic epilepsies.

Objective: To understand parents' of children with developmental and epileptic encephalopathies needs and preferences for psychological resources. Methods: Using a person-based approach, a multidisciplinary panel of clinician and researchers (n = 9) hosted a priority-setting workshop to 1) understand parents' needs and preferences for psychological resources and 2) to develop 'guiding principles' to inform a future suite of psychological resources. The multidisciplinary panel analysed the parent priority-setting workshop data, using a combination of thematic and lexical analysis. Results: Thematic analysis identified six key domains wherein parents (n = 8) prioritised a need for psychological resources to support adaptation to their child's genetic DEE diagnosis. Lexical analysis revealed that connection to diagnosis-specific resources provided a pathway to promote enhanced psychological adaptation, by reducing social isolation and reorienting parents towards feelings of hope. Combination of both analyses generated six thematic informed 'guiding principles'. Conclusion: Codesigned psychological resources may help parents to cope with the unique and complex interplay of stressors associated with their child's DEE diagnosis and treatment. Our 'guiding principles' will be translated to inform a future suite of tailored psychological resources. Innovation: This study demonstrates an innovative codesign approach to inform tailored psychological resources for families of children with rare genetic conditions.

Progressing our understanding of the impacts of nutrition on the brain and behaviour in anorexia nervosa: a tyrosine case study example.

Anorexia nervosa is a severe and complex illness associated with a lack of efficacious treatment. The effects of nutrition on the brain and behaviour is of particular interest, though an area of limited research. Tyrosine, a non-essential amino acid, is a precursor to the catecholamines dopamine, noradrenaline and adrenaline. Ongoing tyrosine administration has been proposed as an adjunct treatment through increasing blood tyrosine sufficiently to facilitate brain catecholamine synthesis. The effects of tyrosine supplementation in adolescents with anorexia nervosa remain to be tested. This study had approval from the Hunter New England Human Research Ethics Committee (06/05/24/3.06). We aimed to explore the pharmacokinetics of tyrosine loading in adolescents with anorexia nervosa (n = 2) and healthy peers (n = 2). The first stage of the study explored the pharmacological response to a single, oral tyrosine load in adolescents (aged 12-15 years) with anorexia nervosa and healthy peers. Participants with anorexia nervosa then continued tyrosine twice daily for 12 weeks. There were no measured side effects. Peak tyrosine levels occurred at approximately two to three hours and approached baseline levels by eight hours. Variation in blood tyrosine response was observed and warrants further exploration, along with potential effects of continued tyrosine administration in anorexia nervosa.

What we have learnt about trauma, loss and grief for children in response to COVID-19.

The disruption of daily life resulting from COVID-19 and its precautions has taken an enormous emotional toll on children and families. The consequences of disrupted schooling, changed social interactions and altered family dynamics has had some unanticipated positives such as improved on-line educational upskilling and personal resilience. However, the potential longer term implications for educational outcomes, economic impacts of job loss and prolonged financial insecurity, physical wellbeing and mental health remain unclear. The potential for post-traumatic stress disorders from what is experienced by children with imposed isolation from friends and extended family, domestic violence and death of relatives remains concerning. Confronting images and stories relayed through social media and the popular press will challenge children's views of safety, security, trust and potentially rob them of much of the innocence of youth. In an overwhelming global response to the "adult" problems of the COVID-19 pandemic, this article reflects on the consequences of trauma, loss and grief through the perspective of children and how they may alter their view of the world.

Consequences of physical distancing emanating from the COVID-19 pandemic: An Australian perspective.

The sobering reality of the COVID-19 pandemic is that it has brought people together at home at a time when we want them apart in the community. This will bring both benefits and challenges. It will affect people differently based upon their age, health status, resilience, family support structures, and socio-economic background. This article will assess the impact in high income countries like Australia, where the initial wave of infection placed the elderly at the greatest risk of death whilst the protective measures of physical distancing, self-isolation, increased awareness of hygiene practices, and school closures with distance learning has had considerable impact on children and families acutely and may have ramifications for years to come.

Keeping our children safe and calm in troubled times.

Keeping children safe and keeping children free from worry are usually tasks that parents do without any sense of cross-purpose. In times of threat and very real danger, these two parental goals come into conflict. This article articulates the confusion of intentions amidst the pandemic. It alludes to previous crises such as happened in both World Wars to protect children including Operation Pied Piper to evacuate them from London in World War 2. The aim of this paper is to give parents and clinicians an awareness of the child's and young person's point of view, in particular, the worry of children for parents. The burden on children of fearing that they may infect parents, grandparents and loved ones generally is considerable. Parents who deny what is happening lack credibility. Parents who fail to manage their own anxieties burden their children with burdens they themselves cannot bear. Honesty about the need for safety and courage as parents to promote calm are what good parents have been doing throughout history. Telling children what they are doing that is right helps them to know what 'the right' is. The possibility is considered that we will come through the pandemic with a greater sense of what matters to our children and what should matter to us.

Sensory dysregulation in tic disorders is associated with executive dysfunction and comorbidities.

BACKGROUND: Tics are conceptualized as a sensorimotor phenomenon with a premonitory urge typically described by patients. As observed in other neurodevelopmental disorders, we have observed sensory dysregulation symptoms, such as tactile hypersensitivity to clothing, in children with tic disorders; however, formal clinical research in this area is limited. OBJECTIVE: To define the presence of sensory dysregulation symptoms in tic disorders, and their clinical associations. METHODS: Prevalence of sensory dysregulation in 102 children with tic disorders was compared to 61 age- and sex-matched healthy controls. Sensory dysregulation, executive function, and quality of life data were obtained through the Short Sensory Profile-2, Sensory Profile-2, Sensory Processing Measure, Behaviour Rating Inventory of Executive Function-2, and Strength and Difficulties Questionnaire and Pediatric Quality of Life Inventory. Tics were assessed with the Yale Global Tic Severity Scale. RESULTS: Children with tics, in the presence of comorbidity, had elevated sensory dysregulation compared to healthy controls (P < 0.001). There was a positive correlation between sensory dysregulation and global executive difficulties in children with tics and comorbidity (n = 87; rho = 0.716; P < 0.001) and a negative correlation of sensory dysregulation with quality of life (n = 87; rho = -0.595; P < 0.001). In children with tics, there was an association between sensory dysregulation and number of comorbidities (P < 0.001). CONCLUSION: In the presence of comorbidity, children with tic disorders have broad sensory dysregulation symptoms beyond the premonitory urge. There was a statistically significant association between sensory dysregulation and executive function difficulties and the presence of neurodevelopmental and psychiatric comorbidity. Sensory dysregulation can be considered neurodevelopmental symptoms, providing insight into the neurobiology of tics and opportunities for therapeutic intervention. © 2019 International Parkinson and Movement Disorder Society.

Delivering bad news.

News in medicine has an obligation to be helpful, accurate, comprehensible for the intended audience and part of an on-going professional relationship that enables the best outcomes available. These obligations have special poignancy when the news is bad, the patient is a child and the news scene is a busy medical practice, clinic or hospital. This paper aims to outline specific ways of being helpful when delivering bad news, within the constraints of daily practice, to a wide variety of developmentally different children at different stages in the family life cycle. The paper specifies the purpose, tasks, obstacles and practicalities of giving adverse information about the health of children in our clinical work. Adverse news needs to be embedded within delivering news more generally in our work. This presupposes a trusting relationship, an accurate understanding of the news to be delivered and a capacity to communicate medical complexity to the intended audience. There are multiple audiences for our medical news, at different developmental stages, each of whom needs help to 'hear the news' in different ways. Each developmental period within a broader family life cycle is briefly addressed. The limited evidence-base is outlined with a view to what the clinician can do to foster maximal support, understanding and on-going cooperation. The interplay between realism and optimism is highlighted so that accuracy and helpfulness are wedded as meaningfully and sensitively as possible. The aim is to be helpful rather than pursue an ideal of the unfaltering, polished and flawlessly performing clinician.