Child Neurology Division, Department of Neurology, University of Rochester, Rochester, New York, USA.
Neuromuscular Division, Department of Neurology, University of Rochester, Rochester, New York, USA.
Muscle Nerve. 2021 Aug;64(2):153-155. doi: 10.1002/mus.27261. Epub 2021 May 26.
Implementation of newborn screening for spinal muscular atrophy (SMA) in 33 US states and increased genetic carrier screening have led to an increase in early, presymptomatic diagnosis of SMA. Early treatment is critically important and is recommended for presymptomatic infants with two to four copies of survival motor neuron 2. Currently, no specific treatment recommendations exist for preterm infants with SMA. The US Food and Drug Administration does not recommend using onasemnogene abeparvovec-xioi in preterm infants. Some insurance companies interpret "preterm" to be less than 40 weeks gestational age (GA) instead of the commonly accepted 37 weeks GA, which can be a barrier to treatment access. Given the risk of rapid decline in some infants, we recommend treatment of preterm infants when they reach 37 weeks GA, based on the definitions of term GA from the World Health Organization and Centers for Disease Control and Prevention, assuming all other treatment criteria are met.
在美国 33 个州实施新生儿脊髓性肌萎缩症（SMA）筛查，以及增加遗传携带者筛查，使得 SMA 的早期、症状前诊断有所增加。早期治疗至关重要，建议对携带两个到四个存活运动神经元 2 基因拷贝的症状前婴儿进行早期治疗。目前，对于患有 SMA 的早产儿尚无具体的治疗建议。美国食品和药物管理局不建议在早产儿中使用onasemnogene abeparvovec-xioi。一些保险公司将“早产儿”解释为小于 40 周妊娠龄（GA），而不是通常接受的 37 周 GA，这可能成为治疗的障碍。鉴于一些婴儿病情迅速恶化的风险，我们建议根据世界卫生组织和疾病控制与预防中心的定义，当早产儿达到 37 周 GA 时，即可根据 GA 的定义进行治疗，假设所有其他治疗标准都得到满足。
