Bach John R
Department of Physical Medicine and Rehabilitation, UMDNJ-New Jersey Medical School, University Hospital, Newark, NJ 07103, USA.
Paediatr Respir Rev. 2008 Mar;9(1):45-50; quiz 50; discussion 55-6. doi: 10.1016/j.prrv.2007.11.003. Epub 2008 Feb 1.
The purpose of this paper is to report prolongation of survival for Werdnig-Hoffman's disease (spinal muscular atrophy type 1, SMA 1) by use of non-invasive respiratory muscle aids compared with tracheostomy, and to present reasons for offering this as an option to the parents of these children. Ninety per cent of typical untreated SMA 1 patients die before 12 months of age and 100% by 24 months of age. Tracheostomy can prolong survival to over 20 years of age in some cases, but patients with tubes do not develop the ability to speak and lose all ability to breathe from the point of the tracheotomy. In contrast, the majority of non-invasively managed SMA 1 patients develop the ability to communicate verbally and maintain some autonomous breathing ability. Clinicians' treatment paradigms associate ventilatory support with invasive tubes and do not recognise aiding respiratory muscles. Clinicians also significantly underestimate the care providers' view of the patient's quality of life. As a result, they rarely offer non-invasive means to prolong life. In conclusion, both non-invasive aids and tracheostomy can prolong survival for SMA 1 patients, and it should be left up to the family to decide which, if either, they would like to use.
本文的目的是报告与气管切开术相比，使用无创呼吸肌辅助设备可延长韦尼克-霍夫曼病（脊髓性肌萎缩1型，SMA 1）患者的生存期，并阐述向这些患儿的家长提供这一选择的理由。90%未经治疗的典型SMA 1患者在12个月龄前死亡，24个月龄时全部死亡。气管切开术在某些情况下可将生存期延长至20岁以上，但带管患者无法发展出说话能力，且自气管切开之时起就会丧失所有呼吸能力。相比之下，大多数接受无创治疗的SMA 1患者能够发展出言语交流能力，并保持一定的自主呼吸能力。临床医生的治疗模式将通气支持与侵入性导管联系在一起，并不认可辅助呼吸肌这一方式。临床医生也严重低估了护理人员对患者生活质量的看法。因此，他们很少提供延长生命的无创手段。总之，无创辅助设备和气管切开术都可延长SMA 1患者的生存期，应由家庭决定是否愿意使用其中任何一种方法。
