Quality of life in caregivers of a child with a developmental and epileptic encephalopathy.

AIM: To explore the relationship between social care-related quality of life (SCrQoL) for caregivers of a child with a developmental and epileptic encephalopathy (DEE; such as SCN2A and Dravet syndrome) and health literacy, illness perceptions, and caregiver activation. METHOD: As part of a larger pre-post pilot study of an information linker service, caregivers completed a baseline questionnaire which included demographics and measures to assess SCrQoL, health literacy, illness perceptions, and caregiver activation. We used Spearman's Rho to determine relationships between variables. RESULTS: Seventy-two caregivers completed the questionnaire. Total SCrQoL varied widely, ranging from an 'ideal state' to 'high needs state'. Caregivers most frequently reported high needs regarding doing activities they enjoy and looking after themselves. Total SCrQoL was correlated with cognitive (r[70] = -0.414, p < 0.000) and emotional representations of illness (r[70] = -0.503, p < 0.000), but not coherence (r = -0.075, p = 0.529). Total SCrQoL was not correlated with health literacy (r[70] = 0.125, p = 0.295) or caregiver activation (r[70] = 0.181, p = 0.127). INTERPRETATION: Future research should explore whether interventions that help caregivers cognitively reframe the negative experiences of having a child with a DEE, and support them to partake in activities they enjoy, boost their SCrQoL. WHAT THIS PAPER ADDS: Caregiver social care-related quality of life (SCrQoL) varied widely, from 'ideal state' to 'high needs state'. Most common high needs were doing enjoyable activities and self-care. Caregivers with higher SCrQoL may perceive their child's illness as less threatening. SCrQoL does not appear to be related to caregiver activation in this sample.

"Somewhere to turn to with my questions": A pre-post pilot of an information linker service for caregivers who have a child with a Developmental and Epileptic Encephalopathy.

BACKGROUND: Caregivers of a child with a Developmental and Epileptic Encephalopathy (DEE) often report challenges accessing relevant and understandable information regarding their child's condition. We developed GenE Compass, an information linker service where caregivers are invited to submit questions and receive high-quality, personalised reports. We conducted a pilot evaluation to determine the feasibility and acceptability of GenE Compass. METHODS: We invited eligible caregivers to complete a baseline questionnaire (Q1) prior to receiving three months access to submit an unlimited number of questions to GenE Compass. We then invited caregivers to complete a follow-up questionnaire (Q2) and optional interview. Caregivers also had the opportunity to share report-specific feedback at the time of receiving each report. RESULTS: Seventy-two caregivers completed Q1, of which 41 submitted at least one question (range = 1-7). We received a total of 76 questions. The median turnaround time was 12 working days for our information linker (range = 1-28). Thirty-seven caregivers completed Q2, of whom 32 submitted at least one question (87 %). Overall, caregivers were highly satisfied with GenE Compass and their reports, and indicated that they would use it in the future if they had another question. Caregivers' qualitative data from Q1 and interviews highlighted the ongoing need for an information linker service like GenE Compass due to a lack of understandable information and limited resources, and the benefit in reducing burden of constant information searching. CONCLUSION: Our study shows that GenE Compass is feasible with the appropriate allocation of resources and highly acceptable to caregivers who have a child with a DEE.

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.

It's made a really hard situation even more difficult: The impact of COVID-19 on families of children with chronic illness.

OBJECTIVE: For over two years, the global COVID-19 pandemic has forced major transformations on health, social, and educational systems, with concomitant impacts on mental health. This study aimed to understand the unique and additional challenges faced by children with chronic illness and their families during the COVID-19 era. METHOD: Parents of children receiving treatment for a chronic illness within the neurology, cancer, renal and respiratory clinics of Sydney Children's Hospital were invited to participate. We used qualitative methodology, including a semi-structured interview guide, verbatim transcription, and thematic analysis supported by QSR NVivo. RESULTS: Thirteen parents of children receiving tertiary-level care, for nine chronic illnesses, participated. Parents reported intense fears relating to their ill child's additional vulnerabilities, which included their risk of developing severe COVID-19 disease and the potential impact of COVID-19-related disruptions to accessing clinical care, medications, allied health support and daily care protocols should their parent contract COVID-19. Parents perceived telehealth as a highly convenient and preferred method for ongoing management of less complex healthcare needs. Parents reported that the accrual of additional stressors and responsibilities during the pandemic, experienced in combination with restricted social interaction and reduced access to usual support networks was detrimental to their own mental health. Hospital-based visitation restrictions reduced emotional support, coping, and resilience for both parents and children and in some cases led to marital discord, sibling distress, and financial loss. Supportive factors included increased time spent together at home during the pandemic and improved hygiene practices at school, which dramatically reduced the incidence of non-COVID-19-related communicable illnesses in chronically ill children. DISCUSSION: For families caring for a chronically ill child, COVID-19 made a difficult situation harder. The pandemic has highlighted the need for targeted psychosocial intervention for vulnerable families, to mitigate current mental health burden and prevent chronic psychological distress.

Central serous chorioretinopathy associated with the use of ephedra.

PURPOSE: To report three cases of central serous chorioretinopathy (CSC) likely related to the use of body-building products containing ephedra. METHODS: Observational case series of three patients who presented with signs and symptoms of CSC. All cases had ocular coherence tomography and fluorescein angiograms to confirm the diagnosis. All admitted to current or previous use of ephedra containing products for body building. No patient had a history of current or prior use of steroids. RESULTS: The first patient presented in 2005 with a 7-month history of bilateral CSC. On careful history, the patient admitted to the use of ephedra during body-building exercises. After discontinuation of the ephedra, his CSC resolved. The second and third patients presented in 2007. Both had pigmented epithelial detachments in both eyes secondary to CSC and atrophic changes suggestive of old, resolved CSC. The second patient had admitted to the use of ephedra 3 years previously and Patient 3 was currently using an ephedra-containing body-building product. After Patient 3 discontinued the ephedra, his CSC too resolved. CONCLUSION: We report three cases of CSC related to the use of ephedra-containing products. All three cases were chronic, atypical, and bilateral in nature with two of three cases resolving after the discontinuation of the ephedra. This may be related to the sympathomimetic properties of ephedra as reported by Michael et al for pseudoephedrine. Given these findings, we suggest that questioning about ephedra products become standard when taking histories in suspected CSC cases.