Jones Harrison N, Crisp Kelly D, Moss Tronda, Strollo Katherine, Robey Randy, Sank Jeffrey, Canfield Michelle, Case Laura E, Mahler Leslie, Kravitz Richard M, Kishnani Priya S
Department of Surgery, Division of Speech Pathology and Audiology, Duke University, Durham, NC, USA.
Division of Speech Pathology and Audiology, Duke University, Durham, NC, USA.
J Pediatr Rehabil Med. 2014;7(3):255-65. doi: 10.3233/PRM-140294.
Respiratory muscle weakness is a primary therapeutic challenge for patients with infantile Pompe disease. We previously described the clinical implementation of a respiratory muscle training (RMT) regimen in two adults with late-onset Pompe disease; both demonstrated marked increases in inspiratory and expiratory muscle strength in response to RMT. However, the use of RMT in pediatric survivors of infantile Pompe disease has not been previously reported.
We report the effects of an intensive RMT program on maximum inspiratory pressure (MIP) and maximum expiratory pressure (MEP) using A-B-A (baseline-treatment-posttest) single subject experimental design in two pediatric survivors of infantile Pompe disease. Both subjects had persistent respiratory muscle weakness despite long-term treatment with alglucosidase alfa.
Subject 1 demonstrated negligible to modest increases in MIP/MEP (6% increase in MIP, d=0.25; 19% increase in MEP, d=0.87), while Subject 2 demonstrated very large increases in MIP/MEP (45% increase in MIP, d=2.38; 81% increase in MEP, d=4.31). Following three-month RMT withdrawal, both subjects maintained these strength increases and demonstrated maximal MIP and MEP values at follow-up.
Intensive RMT may be a beneficial treatment for respiratory muscle weakness in pediatric survivors of infantile Pompe disease.
呼吸肌无力是婴儿型庞贝病患者的主要治疗挑战。我们之前描述了呼吸肌训练（RMT）方案在两名晚发型庞贝病成人患者中的临床应用；两人在接受RMT后吸气和呼气肌力量均有显著增加。然而，此前尚未有关于RMT在婴儿型庞贝病儿童幸存者中的应用报道。
我们采用A - B - A（基线 - 治疗 - 后测）单受试者实验设计，报告了强化RMT方案对两名婴儿型庞贝病儿童幸存者最大吸气压力（MIP）和最大呼气压力（MEP）的影响。尽管两名受试者长期接受阿糖苷酶α治疗，但仍存在持续性呼吸肌无力。
受试者1的MIP/MEP增加可忽略不计至适度增加（MIP增加6%，d = 0.25；MEP增加19%，d = 0.87），而受试者2的MIP/MEP有非常大的增加（MIP增加45%，d = 2.38；MEP增加81%，d = 4.31）。在三个月的RMT撤药期后，两名受试者均维持了这些力量增加，并在随访时表现出最大MIP和MEP值。
强化RMT可能是婴儿型庞贝病儿童幸存者呼吸肌无力的有益治疗方法。
