Family Perspectives on Newborn Screening for X-Linked Adrenoleukodystrophy in California.
Family Perspectives on Newborn Screening for X-Linked Adrenoleukodystrophy in California.
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DOI：
10.3390/ijns5040042
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发表时间：
2019-12
影响因子：
3.5
通讯作者：
Fanos J
中科院分区：
文献类型：
--
作者：
Schwan K;Youngblom J;Weisiger K;Kianmahd J;Waggoner R;Fanos J
x连锁肾上腺脑白质营养不良（ALD）是由ABCD1基因变异引起的，导致不同的临床谱。男性ALD患者的症状从孤立的肾上腺功能不全和缓慢进行性脊髓病到严重的大脑脱髓鞘。ALD杂合型的女性在成年后期通常会出现较轻的症状。肾上腺功能不全与ALD相关的治疗以皮质醇的形式存在，脑ALD可能通过干细胞移植治疗。目前，还没有治疗脊髓病的方法。自2013年以来，至少有14个州将ALD添加到新生儿筛查（NBS）小组中，其中包括2016年的加利福尼亚州。我们研究了NBS检测ALD阳性结果对加州家庭的影响。对10名通过NBS诊断为ALD的儿童的母亲进行了定性访谈。访谈被逐字记录下来，并由两名编码员使用专题分析进行分析。母亲们强烈认为ALD应该被纳入加州国家统计局的专家组；然而，许多人对他们的经历表示担忧。主题包括初次打电话时的压力、在不确定性中生活的困难、对心理健康支持的担忧，以及对疾病进展、治疗和临床试验的更多信息的渴望。母亲们表现出不同的应对策略，包括依靠信仰、寻求信息和保持希望。母亲对医疗保健提供者的建议包括：教育提供者打最初的电话，提供对患者友好的资源，提供有关正在进行的研究的信息，以及简化护理协调。对患有ALD的孩子的父母的建议集中在保持希望和感激他们与孩子在一起的时间。随着越来越多的州将老年痴呆症纳入国家统计局的调查小组，改善目前的模式以促进家庭的弹性和自主权变得非常重要。
X-linked adrenoleukodystrophy (ALD) is caused by gene variants in the ABCD1 gene, resulting in a varied clinical spectrum. Males with ALD present with symptoms ranging from isolated adrenal insufficiency and slowly progressive myelopathy to severe cerebral demyelination. Females who are heterozygous for ALD typically develop milder symptoms by late adulthood. Treatment for adrenal insufficiency associated with ALD exists in the form of cortisol, and cerebral ALD may be treated with stem cell transplantation. Currently, there is no treatment for myelopathy. Since 2013, at least 14 states have added ALD to their newborn screening (NBS) panel, including California in 2016. We examined the impact of a positive NBS result for ALD on families in California. Qualitative interviews were conducted with mothers of 10 children who were identified via NBS for ALD. Interviews were transcribed verbatim and analyzed using thematic analysis by two coders. Mothers felt strongly that ALD should be included on California’s NBS panel; however, many expressed concerns over their experience. Themes included stress at initial phone call, difficulty living with uncertainty, concerns regarding mental health support, and desire for more information on disease progression, treatments and clinical trials. Mothers exhibited diverse coping strategies, including relying on faith, information seeking, and maintaining hope. Mothers’ recommendations for healthcare providers included: educating providers making the initial phone call, providing patient-friendly resources, offering information about ongoing research, and streamlining care coordination. Advice for parents of children with ALD focused on staying hopeful and appreciating the time they have with their children. As more states add ALD to their NBS panel, it is important to improve the current model to promote family resiliency and autonomy.
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