Exploring childhood cancer survivor, parent, healthcare and community professionals' experiences of, and priorities for, using digital health to engage in physical activity: a mixed methods study.

PURPOSE: Digital health interventions provide an innovative way to engage childhood cancer survivors in physical activity, yet few studies have explored the priorities of key stakeholders regarding using digital health. We aimed to investigate survivor, parent, and healthcare and community professional (HCP) experiences, priorities, and perceived importance of using digital health to promote physical activity behaviours for survivors. METHODS: Participants rated the importance of digital health features to promote physical activity in a survey. Guided by survey responses, we facilitated online focus groups or semi-structured interviews to discuss participants' experiences, priorities, and suggestions in-depth. We transcribed the data verbatim and conducted directed content analysis. RESULTS: Forty participants took part in focus groups or interviews (including 9 childhood cancer survivors aged 8-21 years, 13 parents, and 18 HCP). Four key priorities were identified: health behaviour education, peer and parent involvement, goalsetting, and support from an HCP. There was a strong preference for digital mediums to facilitate physical activity due to its accessibility and convenience. Common intervention suggestions included earlier intervention (before the survivorship period), tailored and age-appropriate programs, a combined diet and exercise approach, and concise education delivery. CONCLUSIONS: This study identified key priorities that may help to promote physical activity behaviours among childhood cancer survivors. Further research is needed to integrate these priorities into health behaviour interventions and evaluate their feasibility and efficacy. IMPLICATIONS FOR CANCER SURVIVORS: Incorporating these multi-perspective priorities into future interventions will help to ensure their sustainability, acceptability, and uptake. This will in turn support childhood cancer survivors to develop a healthy lifestyle into adulthood.

Neurodevelopmental outcomes in a cohort of Australian families with self-limited familial epilepsy of neonatal/infantile onset.

OBJECTIVES: To determine: i) seizure recurrence; ii) developmental disability; iii) co-morbidities and risk factors in self-limited familial neonatal and/or infantile epilepsy (SeLFE) in a multigenerational study. METHODS: Families were retrospectively recruited from epilepsy databases (2021-2022) in 2 paediatric hospitals, Sydney, Australia. Eligible families had 2 first degree relatives with seizures and underwent genetic testing. Demographics/clinical data were collected from interviews and medical records. Vineland Adaptive Behaviour Scales-Third Edition measured adaptive function. RESULTS: Fifteen families participated. Fourteen had a genetic diagnosis (93%): 11 pathogenic; PRRT2 (n=4), KCNQ2 (n=3), SCN2A (n=4), 3 likely pathogenic; KCNQ2 (n=1), SCN8A (n=2). Seizures affected 73 individuals (ages 1-76 years); 30 children and 20 adults had in-depth phenotyping. Ten of 50 individuals (20%) had seizure recurrence, aged 8-65 years. Median time from last neonatal/infantile seizure was 11.8/12.8 years. Predictors of recurrence were high seizure number (p=0.05) and longer treatment duration (p=0.03). Seven children had global developmental delay (GDD): mild (n=4), moderate (n=1) and severe (n=2). Vineland-3 identified 3 had low-average and 3 had mild-moderately impaired functioning. The majority (82%) were average. GDD was associated with older age at last seizure (p=0.03), longer epilepsy duration (p=0.02), and higher number of anti-seizure medications (p=0.05). Four children had speech delay, 5 (10%) had Autism Spectrum Disorder. Paroxysmal kinesiogenic dyskinesia (n=5) occurred in 4 families and hemiplegic migraine (n=8) in 3 families. CONCLUSIONS: Individuals with SeLFE have a small risk of recurrent seizures (20%) and neurodevelopmental disability. Significant predictors are higher seizure number and longer epilepsy duration. Developmental surveillance is imperative.

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.

Acceptability and feasibility of an online information linker service for caregivers who have a child with genetic epilepsy: a mixed-method pilot study protocol.

INTRODUCTION: Developmental and epileptic encephalopathies (DEEs) are rare epilepsy conditions that collectively impact 1 in 2000 children. They are highly genetically heterogeneous, resulting in significant barriers to accurate and adequate information for caregivers. This can lead to increased distress and dissatisfaction with the healthcare system. To address this gap, we developed 'GenE Compass' to provide caregivers with the highest-quality possible, understandable and relevant information in response to specific questions about their child's DEE. Using a mixed-method design, we will now pilot GenE Compass to evaluate the acceptability to caregivers and clinicians, feasibility and impact to caregivers. METHODS AND ANALYSIS: We will recruit 88 caregivers (estimated final sample of 50 at follow-up) who have a child under 18 years of age with a suspected or confirmed DEE diagnosis. Following consent and a baseline questionnaire (questionnaire 1 (Q1)), participants will be able to submit questions to GenE Compass over a 3-month period. After 3 months, participants will complete a follow-up questionnaire (Q2) and an optional telephone interview to answer the research questions. Primary outcomes are acceptability of GenE Compass and feasibility of delivering the intervention (eg, cost of the intervention, number of questions submitted and time taken to respond to questions). Secondary outcomes include the impact of GenE Compass on caregivers' quality of life, information searching behaviours, perceptions of their child's illness and activation. ETHICS AND DISCUSSION: The study protocol (V.2, dated 16 September 2021) has been approved by the Sydney Children's Hospitals Network Human Research Ethics Committee (ETH11277). The results will be disseminated in peer-reviewed journals and at scientific conferences. A lay summary will be disseminated to all participants. TRIAL REGISTRATION NUMBER: ACTRN12621001544864.

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 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.

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.

Genetic Testing in the Pediatric Nephrology Clinic: Understanding Families' Experiences.

Genomics is rapidly being integrated into the routine care of children and families living with renal disease, principally as a diagnostic tool but also to direct therapy, identify at-risk relatives, and facilitate family planning. However, despite significant progress in understanding the genetic heterogeneity of inherited renal disease, the impact of genetic testing on parents and families of affected children is not well understood. This study aimed to investigate the experiences of families undergoing genetic testing, the psychosocial impact of receiving a genetic test result, and parent information and support needs. In-depth semistructured interviews were conducted with 26 parents of pediatric patients (<18 years of age) who had undergone genomic investigation for a suspected genetic renal disease at two tertiary pediatric nephrology services. Interviews were transcribed verbatim, coded, using NVivo software, and thematic analysis was undertaken. Key themes included emotional adjustment to a genetic diagnosis, the importance of parent-provider relationships, empowerment through social connection, and the value of family-centered care. Results highlighted the wide-ranging psychosocial impact of genetic testing on parents, as well as the importance of patient-support networks in enabling parents/families to cope and adapt. Targeted approaches to enhance communication of genetic information and the development of tailored resources to address parents' genetics and health service needs may lead to more satisfactory experiences of genetic testing.

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.

The opinions and experiences of people with intellectual disability regarding genetic testing and genetic medicine: A systematic review.

PURPOSE: Genetic testing is frequently conducted on people with intellectual disability. This systematic literature review sought to assess what research has been conducted with people with intellectual disability to investigate their opinions and experiences of genetic counselling and testing. METHODS: A search of 5 online databases (from year of database creation to 2021) yielded 1162 articles. Seven articles met the inclusion criteria. We assessed the quality, accessibility, and inclusivity of each study and extracted the data. Deductive content analysis was performed. RESULTS: Most study participants showed both the desire and the capability to learn more about genetic conditions and genetic tests. Participants expressed a wide variety of opinions about genetic tests, similar to the range of opinions of the general population. All studies were small and were from a limited number of countries, and analysis showed limited evidence of inclusivity or accessibility. CONCLUSION: This review highlights major gaps in the understanding of the opinions, experiences, and preferences of people with intellectual disability regarding genetic counselling and testing. There is urgent need for research to codesign a more inclusive genomic model of care to address this failure in health care accessibility and equity.

Feasibility of a mental health informed physical activity intervention for the carers of children with developmental and epileptic encephalopathy.

AIM: Parents and carers of children with developmental and epileptic encephalopathies (DEEs) experience high rates of mental health disorders including depression and posttraumatic stress disorder. Physical activity is an evidence-based strategy which may help to improve the wellbeing of this population. METHOD: We delivered a 4-week physical activity group program via a private Facebook group for carers of children with DEEs and their nominated support person. The facilitators provided education and motivation on different weekly topics (e.g. goal setting, overcoming barriers to exercise) and encouraged social support between participants. All participants were provided with a physical activity tracker (Fitbit). The primary outcome was feasibility and secondary outcomes included psychological distress, quality of life, physical activity levels, and PTSD symptoms. RESULTS: N=20 (parents and support partners) were recruited. All participants remained in the program for the full duration and 85% completed the post assessment questionnaires. High acceptability was observed in the qualitative interviews and exploratory analysis of pre-post outcomes found significant improvements in psychological distress and quality of life (ps < 0.01), while changes in physical activity levels and PTSD symptoms were non-significant. CONCLUSION: A mental health informed physical activity program delivered via Facebook is feasible for carers of children with DEEs and may help improve wellbeing.

The information needs of parents of children with early-onset epilepsy: A systematic review.

OBJECTIVE: Early-onset epilepsy has broad physical and psychosocial impacts, and parents have a wide variety of information needs. This systematic review set out to assess 1) whether parents of children with early-onset epilepsy have unmet information needs and 2) their preferences regarding information content and style of information delivery. METHODS: We searched Medline, Embase, PsychInfo, and CINAHL using keywords relating to information needs, information resources, and preferences for information delivery. We limited the search to parent populations and included all peer-reviewed publications published in English after the year 2005. RESULTS: Eleven studies met our inclusion criteria. Parents reported a clear need for understandable, realistic, and focused information, highlighting a particular need for content about comorbidities and emotional support. Parents reported limited availability of detailed information resources on early-onset epilepsy, which compromised their ability to access appropriate healthcare services. Unmet information needs were associated with greater levels of stress, poorer psychosocial outcomes, and lower satisfaction with healthcare services. SIGNIFICANCE: The results highlight the importance of detailed epilepsy information for families. Healthcare professionals should be aware of the impact of a lack of epilepsy information on family wellbeing. Multipronged and tailored interventions targeting the information needs of families are warranted.

The stigma of clean dieting and orthorexia nervosa.

BACKGROUND: Although the stigma of eating disorders such as anorexia has been well established, little is known about the social consequences of "clean dieting" and orthorexia nervosa. In two studies, we examined the social stigma of clean dieting and orthorexia. METHOD: In Study 1, participants read a vignette describing a woman following a "clean" diet, a woman with anorexia, or a control target (minimal information about the individual). In Study 2, participants read a vignette describing a woman with orthorexia, a woman displaying identical orthorexic behaviors but without the orthorexia label, a woman with anorexia, or a control target. Participants then rated the target individual on a range of measures assessing stereotypes, emotions, and behavioral intentions toward the target. RESULTS: Study 1 found that the clean-dieting target was evaluated more negatively than the control target on some dimensions, but less negatively than the target with anorexia nervosa. Study 2 found that evaluations of the targets with orthorexia nervosa were more negative than evaluations of a control target, but did not differ from evaluations of the target with anorexia nervosa. Perceptions of the target's control over her behavior were associated with more positive evaluations (Studies 1 and 2), whereas perceptions of blame and responsibility for the condition were associated with more negative evaluations (Study 2). CONCLUSIONS: Overall, these findings highlight the potential negative social consequences of clean dieting and orthorexia nervosa, and point to perceptions of control and blame as potential mechanisms underlying the stigma of these conditions.