Low Karen J, Treneman-Evans Georgia, Wynn Sarah L, Ingram Jenny
Centre for Academic Child Health, Bristol Medical School, University of Bristol, Bristol, UK.
Department of Clinical Genetics, UHBW NHS trust, Bristol, UK.
Health Expect. 2025 Aug;28(4):e70340. doi: 10.1111/hex.70340.
A genetic neurodevelopmental disorder (GND) impacts all aspects of a child's and family's life. GNDs are rare; most have limited natural history data. We aimed to understand the impacts, obstacles, information barriers and coping strategies developed through parents' experience of receiving and living with a child's diagnosis.
This analysis is part of the UK multicentre observational study of children with rare GNDs (GenROC). We conducted 17 semi-structured online interviews with parents of children with GNDs (aged 0-15 years) from November 2023 to March 2024. Data were analysed following the principles of thematic analysis.
We identified five themes. (1) Impact on the family around a genetic diagnosis: Distress begins well before a diagnosis is received; there is an impact upon the receipt itself and the ongoing impact on the family thereafter. (2) Impact of uncertainty, lack of data and 'rareness'. The experience of parenting when so little is known about your child's condition. (3) Relationships with health professionals. Positive where parents are empowered and feel part of the team; negative where parents feel not heard/believed due to a professional lack of expertise/understanding. (4) Parent mental health: GNDs can be a significant burden to family life. The need to advocate for services has a negative impact. Feelings of isolation through rareness. (5) Coping strategies and factors that help: Support/Facebook groups are considered highly beneficial. Parents develop new positive identities, including that of advocate, professional and educator.
GNDs represent a major challenge for families, clinicians and service providers. Distressed parents are struggling to cope with challenges and suffer from poor mental health. Psychosocial support, better signposting and health professional education may help.
Patient Participant Involvement group (comprising five mothers and one father of children with varying GNDs, one young person with a GND, and one genetics family charity representative) contributed to topic guide development and methodology and provided feedback on results.
遗传性神经发育障碍（GND）会影响儿童及其家庭生活的方方面面。GND较为罕见；大多数疾病的自然病史数据有限。我们旨在了解通过父母接受孩子诊断并与之共同生活的经历所产生的影响、障碍、信息壁垒及应对策略。
本分析是英国针对患有罕见GND的儿童开展的多中心观察性研究（GenROC）的一部分。2023年11月至2024年3月，我们对患有GND的儿童（年龄在0至15岁之间）的父母进行了17次半结构化在线访谈。数据按照主题分析原则进行分析。
我们确定了五个主题。（1）基因诊断对家庭的影响：在收到诊断之前很久痛苦就已开始；诊断本身会产生影响，此后还会持续对家庭产生影响。（2）不确定性、数据匮乏和“罕见性”的影响。对孩子病情了解甚少时为人父母的经历。（3）与医疗专业人员的关系。当父母获得授权并感觉自己是团队的一员时关系积极；当父母因专业人员缺乏专业知识/理解而感觉未被倾听/信任时关系消极。（4）父母心理健康：GND可能给家庭生活带来重大负担。倡导获得服务的需求会产生负面影响。因疾病罕见而产生的孤立感。（5）应对策略及有帮助的因素：支持/脸书群组被认为非常有益。父母形成了新的积极身份，包括倡导者、专业人员和教育者的身份。
GND对家庭、临床医生和服务提供者而言是一项重大挑战。痛苦的父母难以应对挑战，心理健康状况不佳。心理社会支持、更好的引导和医疗专业人员教育可能会有所帮助。
患者参与小组（由五名患有不同GND的儿童的母亲和一名父亲、一名患有GND的年轻人以及一名遗传学家庭慈善机构代表组成）为主题指南的制定和方法提供了帮助，并对结果提供了反馈。
