TY - T1的新生儿筛查脊髓性肌肉萎缩症在纽约州JF -神经学乔-神经病学SP - e1527 LP - e1537做- 10.1212 / WNL。首页0000000000200986六世- 99 - 14盟博胡恩李盟-斯特拉邓盟克劳迪娅·a·奇盟-丹尼斯·m·凯盟Obehioya Irumudomon AU -艾玛Laureta盟莱斯利指出非盟-西蒙娜o . Treidler盟Yaacov Anziska AU - Ai Sakonju AU -切尔西塞AU -奥斯曼Farooq AU -克里斯汀Engelstad盟亚历山德拉Laurenzano AU -凯瑟琳·霍根AU -米歇尔Caggana盟-卡洛斯·a . Saavedra-Matiz AU -科琳·史蒂文斯盟艾玛Ciafaloni Y1 - 2022/10/04 UR - //www.ez-admanager.com/content/99/14/e1527.abstract N2 -背景和目标脊髓性肌萎缩(SMA)添加到建议统一筛选小组2018年7月在很大程度上新批准的可用性和有效性的基础疾病修饰治疗。首页纽约州(NYS) 2018年10月开始普遍新生儿筛查SMA。作者报告的前3年的结果筛选。全州新生儿筛查方法是利用DNA进行提取干血滴用实时定量PCR分析。回顾性随访9转诊中心收集的数据在34个婴儿。结果在全国范围实现第一个3年以来,近650000名婴儿SMA筛查。34婴儿筛查阳性,被称为神经肌肉专业护理中心。发病率仍低于先前预测。绝大多数(94%),包括所有婴儿2 - 3份的运动神经元存活(SMN) 2,接受治疗。 Among treated infants, the overwhelming majority (94%; 30/32) have received gene replacement. All infants in this cohort with 3 copies of SMN2 are clinically asymptomatic posttreatment based on early clinical follow-up data. Infants with 2 copies of SMN2 are more variable in their outcomes. Electrodiagnostic outcomes data obtained from a subgroup of patients (n = 11) demonstrated either improvement or no change in compound muscle action potential (CMAP) amplitude at last clinical follow-up compared with pretreatment baseline. Most infants were treated before 6 weeks of age (median = 34.5 days of life; range 11–180 days). Delays and barriers to treatment identified by treating clinicians followed 2 broad themes: medical and nonmedical. Medical delays most commonly reported were the presence of AAV9 antibodies and elevated troponin I levels. Nonmedical barriers included delays in obtaining insurance and insurance policies regarding specific treatment modalities.Discussion The findings from the NYS cohort of newborn screen-identified infants are consistent with other reports of improved outcomes from early diagnosis and treatment. Additional biomarkers of motor neuron health including EMG can potentially be helpful in detecting preclinical decline.DOL=day of life; mRNA=messenger RNA; NYS=New York State; qPCR=quantitative PCR; SCC=Specialty Care Center; SCID=severe combined immunodeficiency; SMA=spinal muscular atrophy; SMN=survival motor neuron; WHO=World Health Organization ER -