PDF(Pubmed)
Abstract：
BACKGROUND: Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease characterized by progressive muscle weakness and atrophy. Clinical trial data suggest early diagnosis and treatment are critical. The purpose of this study was to evaluate neurology appointment wait times for newborn screening identified infants, pediatric cases mirroring SMA symptomatology, and cases in which SMA is suspected by the referring physician. Approaches for triaging and expediting referrals in the US were also explored.
METHODS: Cure SMA surveyed healthcare professionals from two cohorts: (1) providers affiliated with SMA care centers and (2) other neurologists, pediatric neurologists, and neuromuscular specialists. Surveys were distributed directly and via Medscape Education, respectively, between July 9, 2020, and August 31, 2020.
RESULTS: Three hundred five total responses were obtained (9% from SMA care centers and 91% from the general recruitment sample). Diagnostic journeys were shorter for infants eventually diagnosed with SMA Type 1 if they were referred to SMA care centers versus general sample practices. Appointment wait times for infants exhibiting \"hypotonia and motor delays\" were significantly shorter at SMA care centers compared to general recruitment practices (p = 0.004). Furthermore, infants with SMA identified through newborn screening were also more likely to be seen sooner if referred to a SMA care center versus a general recruitment site. Lastly, the majority of both cohorts triaged incoming referrals. The average wait time for infants presenting at SMA care centers with \"hypotonia and motor delay\" was significantly shorter when initial referrals were triaged using a set of \"key emergency words\" (p = 0.036).
CONCLUSIONS: Infants directly referred to a SMA care center versus a general sample practice were more likely to experience shorter SMA diagnostic journeys and appointment wait times. Triage guidelines for referrals specific to \"hypotonia and motor delay\" including use of \"key emergency words\" may shorten wait times and support early diagnosis and treatment of SMA.
METHODS: Cure SMA surveyed healthcare professionals from two cohorts: (1) providers affiliated with SMA care centers and (2) other neurologists, pediatric neurologists, and neuromuscular specialists. Surveys were distributed directly and via Medscape Education, respectively, between July 9, 2020, and August 31, 2020.
RESULTS: Three hundred five total responses were obtained (9% from SMA care centers and 91% from the general recruitment sample). Diagnostic journeys were shorter for infants eventually diagnosed with SMA Type 1 if they were referred to SMA care centers versus general sample practices. Appointment wait times for infants exhibiting \"hypotonia and motor delays\" were significantly shorter at SMA care centers compared to general recruitment practices (p = 0.004). Furthermore, infants with SMA identified through newborn screening were also more likely to be seen sooner if referred to a SMA care center versus a general recruitment site. Lastly, the majority of both cohorts triaged incoming referrals. The average wait time for infants presenting at SMA care centers with \"hypotonia and motor delay\" was significantly shorter when initial referrals were triaged using a set of \"key emergency words\" (p = 0.036).
CONCLUSIONS: Infants directly referred to a SMA care center versus a general sample practice were more likely to experience shorter SMA diagnostic journeys and appointment wait times. Triage guidelines for referrals specific to \"hypotonia and motor delay\" including use of \"key emergency words\" may shorten wait times and support early diagnosis and treatment of SMA.
摘要：
背景：脊髓性肌萎缩症（SMA）是一种常染色体隐性遗传性神经肌肉疾病，其特征是进行性肌肉无力和萎缩。临床试验数据表明，早期诊断和治疗至关重要。这项研究的目的是评估新生儿筛查确定的婴儿的神经病学预约等待时间，反映SMA症状的儿科病例，以及转诊医师怀疑SMA的病例。还探索了在美国分类和加快转介的方法。
方法：CureSMA调查了来自两个队列的医疗保健专业人员：（1）SMA护理中心的附属提供者和（2）其他神经科医生，儿科神经科医生,和神经肌肉专家。调查直接通过MedscapeEducation分发，分别,2020年7月9日至2020年8月31日。
结果：总共获得了三百五五个响应（9％来自SMA护理中心，91％来自一般招募样本）。如果最终被诊断为SMA1型的婴儿被转诊到SMA护理中心，而不是一般的样本实践，则诊断旅程较短。与一般招募实践相比，SMA护理中心表现出“张力减退和运动延迟”的婴儿的预约等待时间显着缩短（p=0.004）。此外，与一般招募中心相比,通过新生儿筛查确定的SMA患儿如果转诊至SMA护理中心更有可能更早被发现.最后,这两个队列中的大多数都对传入的转诊进行了分类。当使用一组“关键紧急单词”对初始转诊进行分类时，在SMA护理中心出现“张力减退和运动延迟”的婴儿的平均等待时间显着缩短（p=0.036）。
结论：直接转诊到SMA护理中心的婴儿与一般样本诊所相比，更有可能经历较短的SMA诊断旅程和预约等待时间。针对“张力减退和运动延迟”的转诊的分诊指南，包括使用“关键紧急词汇”，可能会缩短等待时间，并支持SMA的早期诊断和治疗。
方法：CureSMA调查了来自两个队列的医疗保健专业人员：（1）SMA护理中心的附属提供者和（2）其他神经科医生，儿科神经科医生,和神经肌肉专家。调查直接通过MedscapeEducation分发，分别,2020年7月9日至2020年8月31日。
结果：总共获得了三百五五个响应（9％来自SMA护理中心，91％来自一般招募样本）。如果最终被诊断为SMA1型的婴儿被转诊到SMA护理中心，而不是一般的样本实践，则诊断旅程较短。与一般招募实践相比，SMA护理中心表现出“张力减退和运动延迟”的婴儿的预约等待时间显着缩短（p=0.004）。此外，与一般招募中心相比,通过新生儿筛查确定的SMA患儿如果转诊至SMA护理中心更有可能更早被发现.最后,这两个队列中的大多数都对传入的转诊进行了分类。当使用一组“关键紧急单词”对初始转诊进行分类时，在SMA护理中心出现“张力减退和运动延迟”的婴儿的平均等待时间显着缩短（p=0.036）。
结论：直接转诊到SMA护理中心的婴儿与一般样本诊所相比，更有可能经历较短的SMA诊断旅程和预约等待时间。针对“张力减退和运动延迟”的转诊的分诊指南，包括使用“关键紧急词汇”，可能会缩短等待时间，并支持SMA的早期诊断和治疗。
