■脊髓性肌萎缩症(SMA)是一种由存活运动神经元1(SMN1)基因突变引起的神经退行性疾病。在临床研究中,用asemnogeneabeparvovec(以前称为AVXS-101,Zolgensma®,诺华公司)有效改善SMA儿童的运动功能。然而,它对认知和语言技能的影响在很大程度上是未知的。
■这项纵向观察性研究评估了12例有症状的1型SMA患者服用asemnogeneabeparvovovec后1年的运动和神经认知功能的变化,这些患者在服用时年龄为1.7-52.6个月。使用费城儿童医院神经肌肉疾病测试(CHOP-INTEND)测量运动功能,同时使用GriffithsIII测量神经认知评估。在每个时间点还评估了运动里程碑和语言能力。
■CHOP-INTEND评分中位数在1、3、6和12个月后观察到与基线相比的统计学显著增加(所有p≤0.005)。大多数(91.7%)患者能够在12个月时翻身或独立坐下>1分钟。格里菲斯III学习基础的显着增加,语言与沟通,眼睛和手的协调,在12个月时观察到个人-社会-情绪子量表得分,但不在GrossMotor子表中。大多数患者的言语和语言能力都有所进步。总的来说,大多数患者在接受asemnogeneabeparvovec治疗后,除了运动功能和运动里程碑的显著改善外,认知和沟通能力也有一定改善.在评估SMA患者的整体功能时,应考虑对神经认知功能的评估。
UNASSIGNED: Spinal muscular atrophy (SMA) is a neurodegenerative disease caused by mutations in the survival motor neuron 1 (SMN1) gene. In clinical studies, gene replacement therapy with onasemnogene abeparvovec (formerly AVXS-101, Zolgensma®, Novartis) was efficacious in improving motor functioning in children with SMA. However, its effects on cognitive and language skills are largely unknown.
UNASSIGNED: This longitudinal observational study evaluated changes in motor and neurocognitive functioning over a 1-year period after administration of onasemnogene abeparvovec in 12 symptomatic SMA type 1 patients with two copies of SMN2 aged 1.7-52.6 months at administration. Motor functioning was measured using the Children\'s Hospital of Philadelphia Infant Test for Neuromuscular Disorders (CHOP-INTEND) while neurocognitive assessment was measured using Griffiths III. Motor milestones and language ability were also assessed at each timepoint.
UNASSIGNED: Statistically significant increases in median CHOP-INTEND scores from baseline were observed at 1, 3, 6, and 12 months after onasemnogene abeparvovec administration (all p ≤ 0.005). Most (91.7%) patients were able to roll over or sit independently for >1 min at 12 months. Significant increases in the Griffiths III Foundations of Learning, Language and Communication, Eye and Hand Coordination, and Personal-Social-Emotional subscale scores were observed at 12-months, but not in the Gross Motor subscale. Speech and language abilities progressed in most patients. Overall, most patients showed some improvement in cognitive and communication performance after treatment with onasemnogene abeparvovec in addition to significant improvement in motor functioning and motor milestones. Evaluation of neurocognitive function should be considered when assessing the global functioning of patients with SMA.