Department of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix, Arizona, USA.
Department of Genetic Counseling, The University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA.
J Genet Couns. 2022 Dec;31(6):1404-1420. doi: 10.1002/jgc4.1615. Epub 2022 Aug 1.
Newborn screening (NBS) for Pompe disease (PD) was added to the Recommended Uniform Screening Panel (RUSP) in the United States in 2015 because there was compelling evidence of health benefits for early diagnosis of Infantile-onset Pompe disease (IOPD). However, one limitation of NBS for PD is its inability to distinguish IOPD and late onset forms of Pompe disease (LOPD). Management of LOPD is challenging because of uncertainty around progression of LOPD and determining the appropriate time for treatment initiation. The aims of this study were to understand the impact of LOPD identified through NBS, by exploring the differences in attitudes, emotions and opinions among parents and identify their needs for follow-up care. Study participants were recruited from states that included PD on their NBS panel. Semi-structured interviews were conducted with parents of nine children who were diagnosed with LOPD after an abnormal NBS result. Predominantly, parents reported a lack of adequate information, guidance, and psychosocial support from the very beginning and through the course of their diagnosis. This caused uncertainty, anxiety, frustration, and fear of the unknown. Parents live in a 'worry or not to worry' phase, balancing between coping methods to avoid over medicalization of their child, but also preparing concrete follow-up plans to be on the lookout for any signs of PD-related symptoms. Understanding parents' experiences allows genetic counselors and NBS programs to proactively design care plan for parents during this difficult period.
新生儿筛查（NBS）于 2015 年被添加到美国的推荐统一筛查面板（RUSP）中，因为有确凿的证据表明早期诊断婴儿型庞贝病（IOPD）对健康有益。然而，NBS 用于 PD 的一个限制是它无法区分 IOPD 和迟发性庞贝病（LOPD）。由于 LOPD 的进展和确定治疗开始的适当时间存在不确定性，因此 LOPD 的管理具有挑战性。本研究的目的是通过探讨 NBS 发现的 LOPD 对父母态度、情绪和意见的差异，了解其影响，并确定他们对随访护理的需求。研究参与者从 NBS 面板上包含 PD 的州招募。对 9 名被诊断为 LOPD 的儿童的父母进行了半结构化访谈，这些儿童的 NBS 结果异常。父母主要报告说，从一开始到诊断过程中，他们缺乏足够的信息、指导和心理社会支持。这导致了不确定性、焦虑、沮丧和对未知的恐惧。父母生活在一个“担心还是不担心”的阶段，在避免过度医疗化孩子的应对方法之间保持平衡，但也要制定具体的后续计划，留意任何与 PD 相关症状的迹象。了解父母的经历可以让遗传咨询师和 NBS 项目在这个困难时期主动为父母设计护理计划。
