Ophthalmic Genetics & Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, USA.
Ophthalmic Genetics & Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, USA.
Am J Ophthalmol. 2020 Apr;212:98-104. doi: 10.1016/j.ajo.2019.11.023. Epub 2019 Nov 23.
To explore the experiences of parents of sons with X-linked retinoschisis (XLRS).
Mixed methods-qualitative interviews with quantitative survey.
Parents of sons with XLRS who were evaluated at the National Eye Institute between December 2017 and January 2019 were eligible for this study. Participation involved engaging in a semistructured interview and completing a survey assessing optimism, anxiety, personality traits, and sociodemographics using valid and reliable scales. Interview transcripts were coded and analyzed thematically, and scales were scored and used descriptively.
Eleven mothers and 8 fathers from 13 families participated. Optimism, anxiety, and personality traits fell into the normative ranges for the scales. Parents described a process of continuous adaptation to their son's condition. The initial diagnosis was characterized by shock, grief, and "devastation" for most parents. Maternal guilt was common, but usually lessened over time. As parents adjusted to life postdiagnosis, they attempted to achieve a state of normalcy while balancing a desire to protect their sons. Significant sources of stress included decisions around sports participation and driving. Among all parents, the fear of retinal detachment was an ongoing concern. Most parents did identify perceived benefits from their experiences, such as feelings of gratitude or family cohesion.
Most parents viewed XLRS as a significant challenge in their sons' lives, but one that could be overcome. Clinical encounters may be enhanced for families with XLRS by providing accurate information, preparing families for potential challenges, anticipating stressful decisions, and meeting other families with XLRS.
探索 X 连锁性视网膜劈裂症（XLRS）患儿父母的经历。
定性访谈与定量调查的混合方法。
2017 年 12 月至 2019 年 1 月期间在国立眼科研究所接受评估的 XLRS 患儿的父母有资格参加本研究。参与研究包括进行半结构化访谈和完成一项调查，该调查使用有效且可靠的量表评估乐观程度、焦虑、人格特质和社会人口统计学特征。对访谈记录进行编码和主题分析，并对量表进行评分和描述性分析。
共有来自 13 个家庭的 11 位母亲和 8 位父亲参与了本研究。乐观程度、焦虑和人格特质均落在量表的正常范围内。父母描述了一个不断适应儿子病情的过程。最初的诊断特征是大多数父母感到震惊、悲伤和“崩溃”。母亲普遍感到内疚，但随着时间的推移，这种内疚感通常会减轻。随着父母适应诊断后的生活，他们试图在平衡保护儿子的愿望的同时保持正常状态。主要的压力源包括有关参与体育运动和驾驶的决策。所有父母都担心视网膜脱离，这是一个持续存在的问题。大多数父母确实从他们的经历中发现了一些好处，例如感恩或家庭凝聚力。
大多数父母认为 XLRS 是儿子生活中的一个重大挑战，但可以克服。为 XLRS 患儿家庭提供准确的信息、为潜在挑战做好准备、预测有压力的决策并与其他 XLRS 患儿家庭会面，可能会增强与这些家庭的临床接触。
