TY - T1的功能能力的观察研究婴儿、儿童和成人1型SMA JF -神经学乔-神经病学SP - e696 LP - e703做- 10.1212 / WNL。首页0000000000006050六世- 91 - 8 AU -玛丽窗格盟Concetta巴勒莫AU -索尼娅·梅西纳盟-瓦a桑松盟克劳迪奥·布鲁诺盟Michela Catteruccia AU -玛丽亚Sframeli盟埃米利奥Albamonte AU -滨Pedemonte盟-阿黛尔D中保盟Giorgia Brigati AU -罗伯托-德桑蒂斯盟Giorgia Coratti AU -西蒙娜Lucibello AU -恩里科·贝尔蒂尼盟-朱塞佩·维塔AU -弗朗西斯科·达尼洛Tiziano AU - Eugenio麦克利盟代表意大利EAP工作组Y1 - 2018/08/21 UR - //www.ez-admanager.com/content/91/8/e696.abstract N2 -目的报告横断面临床发现群体的病人受到1型脊髓性肌肉萎缩症的影响。首页方法包括122名患者,年龄介于22年,3个月1个月。超过70%(85/122)2年以上和25%(31/122)超过10年。患者分类根据表现型的严重性和SMN2副本的数量。Results Patients with the more common and the most severe phenotype older than 2 years were, with few exceptions, on noninvasive ventilation and, with increasing age, more often had tracheostomy or >16-hour ventilation and a gastrostomy inserted. In contrast, 25 of the 28 patients with the mildest phenotype older than 2 years had no need for tracheostomy or other ventilatory or nutritional support. In patients older than 2 years, the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders scores were generally lower compared to those found in younger patients and showed distinct levels of functional abilities according to the severity of the phenotype. Similar findings were also observed on the Hammersmith Infant Neurological Examination.Conclusions Our findings confirm that, after the age of 2 years, patients with type 1 spinal muscular atrophy generally survive only if they have gastrostomy and tracheostomy or noninvasive ventilation >16 hours and have low scores on the functional scales. More variability, however, can be expected in those with the mildest phenotype, who achieve head control. These data provide important baseline information at the time treatments are becoming available.CHOP INTEND=Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders; EAP=early access program; HINE=Hammersmith Infant Neurological Examination; PEG=percutaneous endoscopic gastrostomy; SMA=spinal muscular atrophy ER -