Department of Human Genetics, Amsterdam UMC, location Vrije Universiteit, Amsterdam, the Netherlands.
Amsterdam Reproduction and Development research institute, Amsterdam, the Netherlands.
Orphanet J Rare Dis. 2023 Jun 2;18(1):134. doi: 10.1186/s13023-023-02735-0.
Primary carnitine deficiency is an inborn error of metabolism, which can lead to life-threating complications early in life. Low carnitine levels can be detected by newborn bloodspot screening (NBS). However, NBS can also identify, mostly asymptomatic, mothers with primary carnitine deficiency. To identify mothers' needs and areas for improving screening practice, this study explored the experiences with, and opinions on primary carnitine deficiency screening in NBS among women diagnosed through NBS of their newborn.
Twelve Dutch women were interviewed, 3-11 years after diagnosis. Data were analysed using a thematic approach.
Four main themes were derived: 1) psychological impact of primary carnitine deficiency diagnosis, 2) becoming a patient and "patient-in-waiting", 3) information issues and care provision, and 4) primary carnitine deficiency as part of the NBS panel. Mothers shared that they did not experience major psychological distress of the diagnosis. They did experience (recall) various emotions following the initial abnormal NBS result, including fear and anxiety as well as relief, and emotions regarding their own diagnosis, including uncertainty about health risks and treatment effectiveness. Some felt a patient-in-waiting. Many participants experienced a lack of information, especially shortly after receiving the abnormal NBS result. All shared the belief that screening for primary carnitine deficiency in NBS is beneficial for the newborn, and, given the information they received, also considered the knowledge beneficial for their own health.
Psychological burden following diagnosis was experienced by women as limited, although the experienced lack of information amplified feelings of uncertainty and anxiety. Most mothers believed that benefits of knowing about primary carnitine deficiency outweighed the disadvantages. Mothers' perspectives should be incorporated in policy-making about primary carnitine deficiency in NBS.
原发性肉碱缺乏症是一种先天性代谢缺陷，可导致生命早期出现危及生命的并发症。新生儿足跟血筛查（NBS）可检测到肉碱水平低。然而，NBS 也可以识别出大多数无症状的原发性肉碱缺乏症母亲。为了确定母亲的需求以及改善筛查实践的领域，本研究通过 NBS 筛查出的新生儿，探讨了女性对 NBS 中原发性肉碱缺乏症筛查的体验和看法。
12 名荷兰女性在确诊后 3-11 年接受了采访。采用主题分析法分析数据。
得出了四个主要主题：1）原发性肉碱缺乏症诊断的心理影响，2）成为患者和“候补患者”，3）信息问题和护理提供，以及 4）原发性肉碱缺乏症作为 NBS 检测项目的一部分。母亲们表示，她们并没有因为诊断而感到严重的心理困扰。她们在收到最初异常的 NBS 结果后确实经历了各种情绪，包括恐惧和焦虑，以及解脱感，还有关于自己诊断的情绪，包括对健康风险和治疗效果的不确定性。一些人感到自己是候补患者。许多参与者在收到异常 NBS 结果后不久就经历了信息缺乏，尤其是在收到异常 NBS 结果后不久。所有人都认为 NBS 筛查原发性肉碱缺乏症对新生儿有益，并且考虑到他们所获得的信息，也认为这对自己的健康有益。
尽管缺乏信息会放大不确定性和焦虑感，但女性在诊断后经历的心理负担有限。大多数母亲认为了解原发性肉碱缺乏症的益处大于弊端。应该将母亲的观点纳入 NBS 中原发性肉碱缺乏症的决策制定中。
