■Goldenhar综合征是一种罕见的先天性疾病,通常以颅面部异常和椎骨畸形为特征。由于其罕见和复杂的性质,病因未经证实,导致父母的不确定性和随后的情感后遗症。已经研究了临床表现,但很少有研究探索父母的福祉和生活质量(QoL)。在这项定性研究中,我们探讨了父母对抚养Goldenhar综合征儿童的挑战和生活经验的看法。
■十个亲生父母(五个母亲和五个父亲),在Goldenhar英国会议上招募,参加了录音,半结构化面试。访谈探讨了情感健康,围绕因果关系的观点,获得支持,面临的挑战,耻辱和未来展望的经验。采用自反性主题分析,转录本接受演绎和归纳编码。
■确定了七个主题:支持网络(GoldenharUK),情绪过山车;性别应对;不确定性;社会反应;应对挑战和接受。
■这是父母的人生视角,抚养一个患有Goldenhar综合症的孩子,通过采访进行了探索。我们发现了影响父母QoL的突出问题,包括诊断时的孤立和痛苦,以及整个多学科健康之旅。我们还确定了Goldenhar综合症年轻人面临的QoL挑战的重要指标。未来的工作正在与青少年进一步探索这些问题,年轻人和成年人与Goldenhar发展他们的QoL的概念框架。这将用于开发定制的患者报告结果(PRO),以表达儿童和年轻人在医疗过程中面临的挑战。
UNASSIGNED: Goldenhar Syndrome is a rare congenital condition, typically characterized by craniofacial abnormalities and vertebral malformations. Due to its rare and complex nature, the etiology is unconfirmed, resulting in parental uncertainty and subsequent emotional sequelae. Clinical manifestations have been researched but few studies have explored parental wellbeing and Quality of Life (QoL). In this qualitative study, we explore parental views of the challenges and lived experience of raising a child with Goldenhar Syndrome.
UNASSIGNED: Ten biological parents (five mothers and five fathers), recruited at the Goldenhar UK Conference, took part in audio-recorded, semi-structured interviews. Interviews explored emotional wellbeing, views surrounding causation, support accessed, challenges faced, experience of stigma and future outlooks. Reflexive thematic analysis was employed, and transcripts were subject to deductive and inductive coding.
UNASSIGNED: Seven themes were identified: support networks (Goldenhar UK), rollercoaster of emotion; gendered coping; uncertainty; societal reactions; coping with challenge and acceptance.
UNASSIGNED: This is the first-time the life perspectives of parents, raising a child with Goldenhar Syndrome, have been explored via interviews. We have unearthed prominent issues that impact parental QoL including isolation and distress at the point of diagnosis, and throughout the multidisciplinary health journey. We have also established significant indicators of the ongoing QoL challenges faced by young people with Goldenhar Syndrome. Future work is underway exploring these issues further with teenagers, young people and adults with Goldenhar to develop a conceptual framework of their QoL. This will be used to develop a bespoke patient reported outcome (PRO) to give voice to the challenges children and young adults face during their medical journey.