Long-term survival in Werdnig-Hoffmann disease
Long-term survival in Werdnig-Hoffmann disease
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DOI：
10.1097/phm.0b013e31804a8505
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发表时间：
2007-05-01
影响因子：
3
通讯作者：
Komaroff, Eugene
中科院分区：
文献类型：
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作者：
Bach, John R.;Saltstein, Katherine;Komaroff, Eugene
目的：为了报告脊髓性肌萎缩症1型（SMA 1）的长期生存和后果的语音和呼吸机依赖作为功能的模式的ventilatoruse.Design：回顾性图表审查106连续提到SMA 1患者，其中92个最严重的被认为是在三个组：结果：未治疗组患者死亡年龄为9.6 ± 4.0个月。22名使用气管切开插管的患者（第2组）的平均年龄为70.5 ± 43.3个月（范围2-159个月）; 5名患者在66.2 ± 114.2个月（范围8-270个月）时死亡。6例患者在气管切开术时有可理解的语言，并在术后保留了一定的发声能力。21名尚未发育出说话能力的患者在气管切开术后均未发育出说话能力。在27例患者中，有25例在气管切开术后立即完全丧失了自主呼吸能力。47例使用无创机械通气（NIV）的患者（第3组）在急性呼吸衰竭发作期间拔管。其中39例为65.2 +/- 45.8个月（范围11-153个月），8例在60.9 +/- 26.1个月（范围36-111个月）时死亡。有或没有气管切开术的患者的寿命没有显著差异，但NIV患者的寿命显著减少，（P = 0.04）5岁以后每年住院的人数; 47人中有39人可以口头交流，只有9人持续依赖NIV。NIV和气管切开术均能延长SMA 1患者的生存期，但后者导致持续呼吸机依赖和语言障碍。
Objectives: To report long-term survival of spinal muscular atrophy type 1 (SMA 1) and consequences on speech and ventilator dependence as a function of mode of ventilator use.Design: A retrospective chart review of 106 consecutively referred SMA 1 patients, the 92 most severe of which were considered in three groups: untreated (group 1), tracheostomy managed (group 2), and noninvasively managed (group 3).Results: The untreated patients died at 9.6 +/- 4.0 mos of age. The mean age of the 22 patients referred with tracheostomy tubes (group 2) was 70.5 +/- 43.3 mos (range 2-159 mos); five died at 66.2 +/- 114.2 mos (range 8-270 mos) of age. Six had comprehendible speech at the time of tracheotomy and retained some ability to vocalize afterward. None of the 21 patients who had not developed the ability to speak did so after tracheotomy. Twenty-five of the 27 total lost all autonomous breathing ability immediately, and definitively, after tracheotomy. The 47 patients who used noninvasive mechanical ventilation (NIV) (group 3) were extubated to it during episodes of acute respiratory failure. Thirty-nine of these were 65.2 +/- 45.8 mos (range 11-153 mos) of age, and eight died at 60.9 +/- 26.1 mos (range 36-111 mos) of age. There was no significant difference in longevity with or without tracheostomy, but the NIV patients had significantly fewer (P = 0.04) hospitalizations per year after age 5; 39 of the 47 could communicate verbally, and only nine were continuously dependent on NIV.Conclusions: NIV and tracheostomy can both prolong survival for SMA 1 patients, but the latter results in continuous ventilator dependence and speech does not develop.