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

Abstract

IntroductionDevelopmental 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 analysisWe 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 discussionThe 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 numberACTRN12621001544864.

“We are not a typical family anymore”: Exploring the experiences and support needs of fathers of children with Fragile X syndrome in Australia

“…Moreover, participants asked for the facilitation of access to a wider range of information over a longer postdiagnostic timeframe, which is challenging given most countries have funded genomics services as a consultative diagnostic service. Programs that look to empower the health literacy of parents or offer information navigation for such rare diseases are likely to be a useful addition to current models of care (Robertson et al, 2022).…”

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

“… 16 The pilot study involved baseline data collection (survey) and follow‐up after 3 months of access to GenE Compass (survey and interview). The protocol for this evaluation is published 17 and registered on the Australian New Zealand Clinical Trials Registry (ACTRN12621001544864). We received ethics approval from the Sydney Children's Hospitals Network Human Research Ethics Committee (2021/ETH11277).…”

Quality of life, socioeconomic and psychological concerns in parents of children with tuberous sclerosis complex, STXBP1 and SYNGAP1 encephalopathies: a mixed method study

“…In addition, neuropsychiatric comorbidities in children with TSC were also associated with lower family functioning (p = 0.02) and carer HRQL (p < 0.01). This decrease in carer and family HRQL occurs because the daily routines of the entire family change as they focus on the needs of the sick child (65, 66), such as monitoring seizures, assessing risk of injury, managing disruptive behavior, and changing work shifts for medical appointments, affecting their daily planning or their social activities (8,65,66). Thus, carers need time for themselves to maintain their quality of life.…”

“…Children affected by DEEs and their families experience difficulties with diagnosis and genetic identification, carer burden, and financial and social difficulties related to the disability (6,7). These difficulties in caring for children with DEEs cause significant physical (exhaustion), mental (stress, anxiety, insomnia) and social (lack of resources) strain on parents, which can lead to health problems and reduced quality of life (6,(8)(9)(10)(11)(12). The European Commission, through the European Joint Programme on Rare Diseases (13), and the Orphanet network initiative (14) for rare diseases, has highlighted the need for further research into the diagnosis, treatment, and impact of rare diseases on patients, their families, and their social environment.…”