Association between neurodevelopmental impairments and motor function in Duchenne muscular dystrophy.
Association between neurodevelopmental impairments and motor function in Duchenne muscular dystrophy.
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DOI：
10.1002/acn3.51914
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发表时间：
2023-12
影响因子：
5.3
通讯作者：
Griggs, Robert C.
中科院分区：
文献类型：
--
作者：
Thangarajh, Mathula;McDermott, Michael P.;Guglieri, Michela;Griggs, Robert C.
我们探讨了未使用皮质类固醇的患有杜氏肌营养不良症 (DMD) 男孩运动结局的各种预后因素。在 196 名 4 岁至 8 岁以下未使用皮质类固醇的男孩中，研究了父母报告的神经发育问题（言语迟缓、言语和语言困难 (SLD) 以及学习困难）、DMD 突变位置和运动结果（6 分钟步行距离 (6MWD)、北极星动态评估 (NSAA) 总分、10 米步行/跑步速度和从地板上升速度）之间的关联。患有 SLD 的参与者比没有 SLD 的参与者在 6 分钟内步行少了 25.8 米 (p = 0.005)，但在 NSAA 总分、10 米步行/跑步速度和从地面上升的速度方面没有表现出统计差异。患有远端 DMD 突变并有学习困难的参与者比没有学习困难的参与者在 6 分钟内步行少了 51.8 米 (p = 0.0007)。具有远端 DMD 突变的参与者比具有近端 DMD 突变的参与者在 10 米步行/跑步速度和从地板上起的速度方面更慢 (p = 0.02)。具有远端 DMD 突变的参与者报告言语延迟或学习困难，其从地板速度上升的速度比具有近端 DMD 突变的参与者慢（p = 0.04，p = 0.01）。有学习困难的参与者的平均 NSAA 总分低于没有学习困难的参与者 (p = 0.004)。未接受皮质类固醇治疗且患有远端 DMD 突变的 DMD 男孩可能在某些定时功能测试中表现较差，而那些有学习困难的男孩可能在 NSAA 中表现较差。正在等待验证性研究，我们的数据强调了在运动结果测量中考虑共存神经发育症状的重要性。
We explored various prognostic factors of motor outcomes in corticosteroid‐naive boys with Duchenne Muscular Dystrophy (DMD). The associations between parent‐reported neurodevelopmental concerns (speech delay, speech and language difficulties (SLD), and learning difficulties), DMD mutation location, and motor outcomes (6‐minute walk distance (6MWD), North Star Ambulatory Assessment (NSAA) total score, 10‐meter walk/run velocity, and rise from floor velocity) were studied in 196 corticosteroid‐naive boys from ages 4 to less than 8 years. Participants with SLD walked 25.8 fewer meters in 6 minutes than those without SLD (p = 0.005) but did not demonstrate statistical differences in NSAA total score, 10‐meter walk/run velocity, and rise from floor velocity. Participants with distal DMD mutations with learning difficulties walked 51.8 fewer meters in 6 minutes than those without learning difficulties (p = 0.0007). Participants with distal DMD mutations were slower on 10‐meter walk/run velocity, and rise from floor velocity (p = 0.02) than those with proximal DMD mutations. Participants with distal DMD mutations, who reported speech delay or learning difficulties, were slower on rise from floor velocity (p = 0.04, p = 0.01) than those with proximal DMD mutations. The mean NSAA total score was lower in participants with learning difficulties than in those without (p = 0.004). Corticosteroid‐naive boys with DMD with distal DMD mutations may perform worse on some timed function tests, and that those with learning difficulties may perform worse on the NSAA. Pending confirmatory studies, our data underscore the importance of considering co‐existing neurodevelopmental symptoms on motor outcome measures.
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影响因子：
11.2
作者：
Flanigan, Kevin M.;Ceco, Ermelinda;Lamar, Kay-Marie;Kaminoh, Yuuki;Dunn, Diane M.;Mendell, Jerry R.;King, Wendy M.;Pestronk, Alan;Florence, Julaine M.;Mathews, Katherine D.;Finkel, Richard S.;Swoboda, Kathryn J.;Gappmaier, Eduard;Howard, Michael T.;Day, John W.;McDonald, Craig;McNally, Elizabeth M.;Weiss, Robert B.
通讯作者：
Weiss, Robert B.
影响因子：
17.1
作者：
Hoffman EP;McNally EM
通讯作者：
McNally EM
DOI：
10.1002/jcsm.12914
发表时间：
2022-04
期刊：
Journal of cachexia, sarcopenia and muscle
影响因子：
--
作者：
Chesshyre M;Ridout D;Hashimoto Y;Ookubo Y;Torelli S;Maresh K;Ricotti V;Abbott L;Gupta VA;Main M;Ferrari G;Kowala A;Lin YY;Tedesco FS;Scoto M;Baranello G;Manzur A;Aoki Y;Muntoni F
通讯作者：
Muntoni F
影响因子：
5.3
作者：
Bello, Luca;D'Angelo, Grazia;Pegoraro, Elena
通讯作者：
Pegoraro, Elena
影响因子：
1.1
作者：
COPLAN, J
通讯作者：
COPLAN, J