Brogna Claudia, Pane Marika, Coratti Giorgia, D'Amico Adele, Pegoraro Elena, Bello Luca, Sansone Valeria Ada Maria, Albamonte Emilio, Messina Sonia, Pini Antonella, D'Angelo Maria Grazia, Bruno Claudio, Mongini Tiziana, Ricci Federica Silvia, Berardinelli Angela, Battini Roberta, Masson Riccardo, Bertini Enrico Silvio, Politano Luisa, Mercuri Eugenio
Pediatric Neurology, Università Cattolica del Sacro Cuore, 00168 Rome, Italy.
Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy.
Children (Basel). 2023 Apr 19;10(4):746. doi: 10.3390/children10040746.
The Performance of Upper Limb version 2.0 (PUL 2.0) is increasingly used in Duchenne Muscular Dystrophy (DMD) to study longitudinal functional changes of motor upper limb function in ambulant and non-ambulant patients. The aim of this study was to evaluate changes in upper limb functions in patients carrying mutations amenable to skipping exons 44, 45, 51 and 53.
All DMD patients were assessed using the PUL 2.0 for at least 2 years, focusing on 24-month paired visits in those with mutations eligible for skipping exons 44, 45, 51 and 53.
285 paired assessments were available. The mean total PUL 2.0 12-month change was -0.67 (2.80), -1.15 (3.98), -1.46 (3.37) and -1.95 (4.04) in patients carrying mutations amenable to skipping exon 44, 45, 51 and 53, respectively. The mean total PUL 2.0 24-month change was -1.47 (3.73), -2.78 (5.86), -2.95 (4.56) and -4.53 (6.13) in patients amenable to skipping exon 44, 45, 51 and 53, respectively. The difference in PUL 2.0 mean changes among the type of exon skip class for the total score was not significant at 12 months but was significant at 24 months for the total score ( < 0.001), the shoulder ( = 0.01) and the elbow domain ( < 0.001), with patients amenable to skipping exon 44 having smaller changes compared to those amenable to skipping exon 53. There was no difference within ambulant or non-ambulant cohorts when subdivided by exon skip class for the total and subdomains score ( > 0.05).
Our results expand the information on upper limb function changes detected by the PUL 2.0 in a relatively large group of DMD patients with distinct exon-skipping classes. This information can be of help when designing clinical trials or in the interpretation of the real world data including non-ambulant patients.
上肢功能评估量表2.0版（PUL 2.0）越来越多地用于杜氏肌营养不良症（DMD）的研究，以了解能行走和不能行走患者的上肢运动功能的纵向变化。本研究的目的是评估携带适合跳跃外显子44、45、51和53突变的患者的上肢功能变化。
所有DMD患者均使用PUL 2.0进行至少2年的评估，重点关注携带适合跳跃外显子44、45、51和53突变的患者的24个月配对访视。
共获得285次配对评估。携带适合跳跃外显子44、45、51和53突变的患者，PUL 2.0总分在12个月时的平均变化分别为-0.67（2.80）、-1.15（3.98）、-1.46（3.37）和-1.95（4.04）。携带适合跳跃外显子44、45、51和53突变的患者，PUL 2.0总分在24个月时的平均变化分别为-1.47（3.73）、-2.78（5.86）、-2.95（4.56）和-4.53（6.13）。总分的外显子跳跃类别类型之间的PUL 2.0平均变化差异在12个月时不显著，但在24个月时总分（P<0.001）、肩部（P = 0.01）和肘部领域（P<0.001）显著，携带适合跳跃外显子44突变的患者与携带适合跳跃外显子53突变的患者相比变化较小。按外显子跳跃类别对行走和非行走队列进行总分和子领域分数细分时，无差异（P>0.05）。
我们的结果扩展了PUL 2.0在相对大量具有不同外显子跳跃类别的DMD患者中检测到的上肢功能变化信息。这些信息在设计临床试验或解释包括非行走患者在内的实际数据时可能会有所帮助。
