12-Month progression of motor and functional outcomes in congenital myotonic dystrophy.
12-Month progression of motor and functional outcomes in congenital myotonic dystrophy.
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DOI：
10.1002/mus.27147
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发表时间：
2021-03
期刊：
影响因子：
3.4
通讯作者：
Johnson NE
中科院分区：
文献类型：
--
作者：
Quigg KH;Berggren KN;McIntyre M;Bates K;Salmin F;Casiraghi JL;DʼAmico A;Astrea G;Ricci F;McKay MJ;Baldwin JN;Burns J;Campbell C;Sansone VA;Johnson NE
我们的目标是描述一组患有先天性强直性肌营养不良(CDM)的参与者12个月的功能和运动结果。CDM参与者在基线和12个月的随访中进行了6分钟步行测试(6MWT)、10米跑、4级爬楼梯、握力和唇力。父母完成了Vinland适应行为量表。47名0至13岁的清洁发展机制患者入选。85%的合格参赛者完成了6米跑、10米跑和4级爬楼梯。平均基线和12个月表现之间的唯一显著差异是3-6岁儿童6MWT的改善(p=0.008)。在所有其他计时功能测试中，这个年龄段的人在性能方面的平均百分比改善也是最大的。在7岁的儿童中，计时功能测试的变化斜率降低或停滞不前，而10岁的≥儿童的表现进一步下降。CTG重复长度为500的受试者与重复长度为1000的受试者没有不同的表现。6MWT、10m跑和4级爬楼梯是最可行的措施。我们的发现与临床概况和先前的横断面数据一致，有助于在这一人群中建立对功能轨迹的合理预期，并确定可能最好地研究治疗干预的点。有必要对10岁和3岁儿童的结局进行进一步研究，但这一新信息将有助于CDM人群中临床试验的规划。
We aim to describe 12-month functional and motor outcome performance in a cohort of participants with congenital myotonic dystrophy (CDM). CDM participants performed the Six Minute Walk Test (6MWT), 10 Meter Run, 4 Stair Climb, Grip Strength and Lip Force at baseline and 12 month visits. Parents completed the Vineland Adaptive Behavior Scale. Forty-seven participants, aged 0 to 13 years old, with CDM were enrolled. 6MWT, 10 Meter Run and 4 Stair Climb were completed in >85% of eligible participants. The only significant difference between mean baseline and 12-month performance was an improvement in 6MWT in children 3–6 years old (p=0.008). This age group also had the largest mean % improvement in performance in all other timed functional testing. In children >7 years, the slope of change on timed functional tests decreased or plateaued, with further reductions in performance in children ≥10 years. Participants with CTG repeat lengths <500 did not perform differently than those with repeat lengths >1000. 6MWT, 10 Meter Run and 4 Stair Climb were the most feasible measures. Our findings are consistent with the clinical profile and prior cross-sectional data, helping to establish reasonable expectations of functional trajectories in this population as well as identifying points in which therapeutic interventions may be best studied. Further study of outcomes in children >10 years old and <3 years is warranted, but this new information will assist planning of clinical trials in the CDM population.
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影响因子：
3.4
作者：
Mcdonald, Craig M.;Henricson, Erik K.;Abresch, R. Ted;Florence, Julaine M.;Eagle, Michelle;Gappmaier, Eduard;Glanzman, Allan M.;Spiegel, Robert;Barth, Jay;Elfring, Gary;Reha, Allen;Peltz, Stuart
通讯作者：
Peltz, Stuart
影响因子：
3.8
作者：
Kroksmark, AK;Ekström, AB;Tulinius, M
通讯作者：
Tulinius, M
影响因子：
56.9
作者：
MAHADEVAN, M;TSILFIDIS, C;KORNELUK, RG
通讯作者：
KORNELUK, RG
影响因子：
1.9
作者：
Wang CH;Bonnemann CG;Rutkowski A;Sejersen T;Bellini J;Battista V;Florence JM;Schara U;Schuler PM;Wahbi K;Aloysius A;Bash RO;Béroud C;Bertini E;Bushby K;Cohn RD;Connolly AM;Deconinck N;Desguerre I;Eagle M;Estournet-Mathiaud B;Ferreiro A;Fujak A;Goemans N;Iannaccone ST;Jouinot P;Main M;Melacini P;Mueller-Felber W;Muntoni F;Nelson LL;Rahbek J;Quijano-Roy S;Sewry C;Storhaug K;Simonds A;Tseng B;Vajsar J;Vianello A;Zeller R;International Standard of Care Committee for Congenital Muscular Dystrophy
通讯作者：
International Standard of Care Committee for Congenital Muscular Dystrophy
影响因子：
3.4
作者：
Berggren, Kiera N.;Hung, Man;Johnson, Nicholas E.
通讯作者：
Johnson, Nicholas E.