形状记忆合金*
医学
SMN1型
脊髓性肌萎缩
新生儿筛查
无症状的
儿科
人口
干预(咨询)
疾病
物理疗法
内科学
数学
环境卫生
组合数学
精神科
作者
Jamie Matteson,Cindy H. Wu,Deepika Mathur,Hao Tang,Stanley Sciortino,Lisa Feuchtbaum,Tracey Bishop,Sudhir C. Sharma,Partha Neogi,Ina Fitzgibbon,Richard S. Olney
出处
期刊:Journal of neuromuscular diseases
[IOS Press]
日期:2022-11-08
卷期号:9 (6): 777-785
被引量:5
摘要
Background: Universal spinal muscular atrophy (SMA) newborn screening was implemented in California on June 24, 2020. Objective: We describe California’s experience with the first 18 months of SMA newborn screening, including our assay methodology, timeliness of screening and follow-up milestones, and clinical and epidemiological outcomes observed. Methods: Dried blood spots are screened for SMA using multiplex real time polymerase chain reaction (RT-PCR) to detect deletions of exon 7 in the survival of motor neuron 1 (SMN1) gene. Short-term follow-up data is collected from clinical staff via an online data collection tool. Results: In the first 18 months, 628,791 newborns from California’s diverse population were tested for SMA. Thirty-four screened positive and were confirmed to have the disorder. Infants were referred, diagnosed, and treated at a median of 8, 12, and 33 days of life, respectively. Nearly all infants received the desired treatment modality, and 62% received treatment while still asymptomatic. Conclusions: SMA newborn screening is a highly sensitive and specific test which identifies infants with SMA early when treatment is most effective. Even with newborn screening’s success in facilitating early intervention, there is still work to be done to expedite treatment, especially for infants with the most severe form of the disease.
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