Discipline of Paediatrics and Child Health, School of Clinical Medicine, UNSW Medicine & Health, UNSW, Randwick, New South Wales, Australia
Discipline of Paediatrics and Child Health, School of Clinical Medicine, UNSW Medicine & Health, UNSW, Randwick, New South Wales, Australia.
BMJ Open. 2022 Oct 26;12(10):e063249. doi: 10.1136/bmjopen-2022-063249.
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.
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.
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.
ACTRN12621001544864.
发育性和癫痫性脑病（DEE）是罕见的癫痫病症，每 2000 名儿童中就有 1 名受到影响。它们具有高度的遗传异质性，这给照顾者提供准确和充分的信息带来了巨大的障碍。这可能导致照顾者的痛苦和对医疗保健系统的不满增加。为了解决这一差距，我们开发了“GenE Compass”，以便根据照顾者对其子女 DEE 的具体问题提供最高质量、可理解和相关的信息。我们将采用混合方法设计，对 GenE Compass 的可接受性、可行性和对照顾者的影响进行试点研究。
我们将招募 88 名照顾者（估计最终随访时的样本量为 50 名），他们的孩子年龄在 18 岁以下，疑似或确诊患有 DEE。在获得同意并完成基线问卷（问卷 1（Q1））后，参与者将能够在 3 个月内向 GenE Compass 提交问题。3 个月后，参与者将完成后续问卷（Q2）和可选的电话访谈，以回答研究问题。主要结果是 GenE Compass 的可接受性和干预措施的可行性（例如，干预措施的成本、提交的问题数量以及回答问题所需的时间）。次要结果包括 GenE Compass 对照顾者生活质量、信息搜索行为、对子女疾病的认知和积极性的影响。
该研究方案（2021 年 9 月 16 日 V.2 版）已获得悉尼儿童医院网络人类研究伦理委员会（ETH11277）的批准。研究结果将在同行评议的期刊和科学会议上发表。将向所有参与者传播通俗易懂的摘要。
ACTRN12621001544864。
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