"We needed this": perspectives of parents and healthcare professionals involved in a pilot newborn screening program for spinal muscular atrophy.
"We needed this": perspectives of parents and healthcare professionals involved in a pilot newborn screening program for spinal muscular atrophy.
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DOI：
10.1016/j.eclinm.2021.100742
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发表时间：
2021-03
影响因子：
15.1
通讯作者：
Farrar MA
中科院分区：
文献类型：
--
作者：
Kariyawasam DST;D'Silva AM;Vetsch J;Wakefield CE;Wiley V;Farrar MA
脊髓性肌萎缩症（SMA）的新生儿筛查（NBS）是一种公认的模式，通过这种模式可以改善健康状况。然而，参与这些计划的父母和医疗保健专业人员（HCP）的观点在很大程度上是未知的。SMA的试点计划于2018年8月至2020年7月进行。使用混合方法收敛的方法，我们使用了一个自填问卷，以了解家长的看法和心理影响的程序，从诊断到治疗。我们按主题分析了HCP遇到的成功/挑战以及两个参与者组的服务改进建议。对202，388名婴儿进行了SMA筛查，并确定了44名父母和HCP对18名新生儿阳性结果的看法。父母（n=29，100%）对SMA的NBS感到满意。尽管筛查阳性结果对所有父母来说都是令人痛苦的，但生活质量随着时间的推移而改善[CarerQoL-7 D基线中位数评分4（SD=1.4）vs 6个月中位数评分8（SD=1.3），p<0.001）]。HCP面临的挑战包括管理途径的时间关键性，同时保持对预测性筛选试验相关局限性的认识。解释：SMA的NBS符合人群筛查标准。利益相关者认可净效益，以优化终身成果。包括与筛查阳性结果相关的心理困扰在内的伤害可以通过有针对性的心理社会支持、信息提供和个性化护理模式来管理，从而加强医疗保健系统。新南威尔士州试点NBS研究由Luminesce Alliance资助。Kariyawasam博士获得了新南威尔士大学RTP奖学金和悉尼儿童医院基金会弗里德曼家庭基金会奖学金的资助。
Newborn screening (NBS) for spinal muscular atrophy (SMA) is a recognised model through which health outcomes can be improved. However, perspectives of parents and healthcare professionals (HCPs) involved in such programs are largely unknown. A pilot program for SMA ran from August 2018-July 2020. Using a mixed-methods convergent methodology, we used a self-administered questionnaire to understand parents’ perceptions and psychological impact of the program from diagnosis to treatment. We thematically analysed successes/challenges encountered by HCPs and recommendations for service improvement from both participant groups. 202,388 infants were screened for SMA and the perceptions of 44 parents and HCPs affected by a positive result in eighteen newborns was ascertained. Parents (n=29, 100%) were satisfied with NBS for SMA. Although screen-positive result was distressing for all parents, quality of life improved over time [CarerQoL-7D baseline median score 4 (SD=1.4) vs six-month median score 8 (SD=1.3), p<0.001)]. Challenges for HCPs included managing the time-critical nature of the pathway whilst remaining cognisant of limitations associated with the predictive screening test. Interpretation: NBS for SMA fulfils criteria for population-wide screening. Net benefits are acknowledged by stakeholders to optimise lifelong outcomes. Harms including psychological distress associated with a screen-positive result may be managed by targeted psychosocial support, information provision and a personalised model of care together strengthening healthcare systems. The NSW Pilot NBS study was funded by Luminesce Alliance. Dr Kariyawasam received funding from the RTP Scholarship, University of New South Wales and The Freedman Family Foundation Scholarship, Sydney Children's Hospital Foundation.
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