Faculdade de Psicologia, Universidade de Lisboa, Lisboa, Portugal.
UCIBIO, Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa, Portugal; Portuguese Association for CDG, Lisboa, Portugal; CDG & Allies - Professionals and Patient Associations International Network (CDG & Allies - PPAIN), Portugal.
Disabil Health J. 2021 Jul;14(3):101065. doi: 10.1016/j.dhjo.2021.101065. Epub 2021 Jan 23.
Congenital disorders of glycosylation are a group of rare metabolic, genetic diseases that cause severe cognitive and physical impairments. Owing to the rarity of this condition, the experiences of these parents are poorly understood.
This study aimed to explore parents' experiences of caring for a child or young adult with congenital disorders of glycosylation.
Semi-structured interviews were conducted with 33 parents from 11 countries by teleconference to assess their experience of parenting children with the stated condition. Through thematic analysis, combining deductive and inductive strategies, we identified common themes across the interviews regarding the initial stage of diagnosis and the current experience.
Parents reported many difficulties in managing the disease and its consequences, mainly related to the condition's management and the child's well-being, focusing less on their own burden and distress. Receiving and adapting to the diagnosis was described as a strenuous and highly emotional process, with parents facing a lack of medical knowledge and difficulty in accessing competent health providers. Regarding the experience of parenting a child with congenital disorders of glycosylation, participants' concerns focused on the child and were related to promoting the child's development and autonomy and finding adequate health and educational support. Participants identified several support strategies. Relevant patient associations provided critical informational, instrumental, and social support.
Results point to parents' need to receive support from informed healthcare and educational providers that recognize their unique challenges and multiple needs.
糖基化先天性异常是一组罕见的代谢性、遗传性疾病，可导致严重的认知和身体损伤。由于这种疾病的罕见性，这些父母的经历还不太了解。
本研究旨在探讨父母照顾患有糖基化先天性异常的儿童或青年的体验。
通过电话会议对来自 11 个国家的 33 名父母进行了半结构化访谈，以评估他们对患有所述疾病的孩子的育儿经验。通过主题分析，结合演绎和归纳策略，我们在访谈中确定了与诊断初始阶段和当前体验相关的常见主题。
父母报告了在管理疾病及其后果方面的许多困难，主要与疾病的管理和孩子的福祉有关，而较少关注自身的负担和痛苦。接受和适应诊断被描述为一个艰苦和高度情绪化的过程，父母面临缺乏医学知识和难以获得合格的医疗服务提供者的问题。关于养育患有糖基化先天性异常的孩子的经验，参与者的关注点集中在孩子身上，与促进孩子的发展和自主性以及寻找足够的健康和教育支持有关。参与者确定了几种支持策略。相关的患者协会提供了关键的信息、工具和社会支持。
结果表明，父母需要得到有知识的医疗和教育提供者的支持，这些提供者应认识到他们独特的挑战和多种需求。
