PDF(Pubmed)
Abstract：
UNASSIGNED: Health problems in patients with heritable connective tissue disorders (HCTD) are diverse and complex and might lead to lower physical activity (PA) and physical fitness (PF). This study aimed to investigate the PA and PF of children with heritable connective tissue disorders (HCTD).
UNASSIGNED: PA was assessed using an accelerometer-based activity monitor (ActivPAL) and the mobility subscale of the Pediatric Evaluation of Disability Inventory Computer Adaptive Test (PEDI-CAT). PF was measured in terms of cardiovascular endurance using the Fitkids Treadmill Test (FTT); maximal hand grip strength, using hand grip dynamometry (HGD) as an indicator of muscle strength; and motor proficiency, using the Bruininks-Oseretsky Test of Motor Proficiency-2 (BOTMP-2).
UNASSIGNED: A total of 56 children, with a median age of 11.6 (interquartile range [IQR], 8.8-15.8) years, diagnosed with Marfan syndrome (MFS), n = 37, Loeys-Dietz syndrome (LDS), n = 6, and genetically confirmed Ehlers-Danlos (EDS) syndromes, n = 13 (including classical EDS n = 10, vascular EDS n = 1, dermatosparaxis EDS n = 1, arthrochalasia EDS n = 1), participated. Regarding PA, children with HCTD were active for 4.5 (IQR 3.5-5.2) hours/day, spent 9.2 (IQR 7.6-10.4) hours/day sedentary, slept 11.2 (IQR 9.5-11.5) hours/day, and performed 8,351.7 (IQR 6,456.9-1,0484.6) steps/day. They scored below average (mean (standard deviation [SD]) z-score -1.4 (1.6)) on the PEDI-CAT mobility subscale. Regarding PF, children with HCTD scored well below average on the FFT (mean (SD) z-score -3.3 (3.2)) and below average on the HGD (mean (SD) z-score -1.1 (1.2)) compared to normative data. Contradictory, the BOTMP-2 score was classified as average (mean (SD) z-score.02 (.98)). Moderate positive correlations were found between PA and PF (r(39) = .378, p < .001). Moderately sized negative correlations were found between pain intensity and fatigue and time spent actively (r(35) = .408, p < .001 and r(24) = .395 p < .001, respectively).
UNASSIGNED: This study is the first to demonstrate reduced PA and PF in children with HCTD. PF was moderately positively correlated with PA and negatively correlated with pain intensity and fatigue. Reduced cardiovascular endurance, muscle strength, and deconditioning, combined with disorder-specific cardiovascular and musculoskeletal features, are hypothesized to be causal. Identifying the limitations in PA and PF provides a starting point for tailor-made interventions.
UNASSIGNED: PA was assessed using an accelerometer-based activity monitor (ActivPAL) and the mobility subscale of the Pediatric Evaluation of Disability Inventory Computer Adaptive Test (PEDI-CAT). PF was measured in terms of cardiovascular endurance using the Fitkids Treadmill Test (FTT); maximal hand grip strength, using hand grip dynamometry (HGD) as an indicator of muscle strength; and motor proficiency, using the Bruininks-Oseretsky Test of Motor Proficiency-2 (BOTMP-2).
UNASSIGNED: A total of 56 children, with a median age of 11.6 (interquartile range [IQR], 8.8-15.8) years, diagnosed with Marfan syndrome (MFS), n = 37, Loeys-Dietz syndrome (LDS), n = 6, and genetically confirmed Ehlers-Danlos (EDS) syndromes, n = 13 (including classical EDS n = 10, vascular EDS n = 1, dermatosparaxis EDS n = 1, arthrochalasia EDS n = 1), participated. Regarding PA, children with HCTD were active for 4.5 (IQR 3.5-5.2) hours/day, spent 9.2 (IQR 7.6-10.4) hours/day sedentary, slept 11.2 (IQR 9.5-11.5) hours/day, and performed 8,351.7 (IQR 6,456.9-1,0484.6) steps/day. They scored below average (mean (standard deviation [SD]) z-score -1.4 (1.6)) on the PEDI-CAT mobility subscale. Regarding PF, children with HCTD scored well below average on the FFT (mean (SD) z-score -3.3 (3.2)) and below average on the HGD (mean (SD) z-score -1.1 (1.2)) compared to normative data. Contradictory, the BOTMP-2 score was classified as average (mean (SD) z-score.02 (.98)). Moderate positive correlations were found between PA and PF (r(39) = .378, p < .001). Moderately sized negative correlations were found between pain intensity and fatigue and time spent actively (r(35) = .408, p < .001 and r(24) = .395 p < .001, respectively).
UNASSIGNED: This study is the first to demonstrate reduced PA and PF in children with HCTD. PF was moderately positively correlated with PA and negatively correlated with pain intensity and fatigue. Reduced cardiovascular endurance, muscle strength, and deconditioning, combined with disorder-specific cardiovascular and musculoskeletal features, are hypothesized to be causal. Identifying the limitations in PA and PF provides a starting point for tailor-made interventions.
摘要：
■遗传性结缔组织疾病（HCTD）患者的健康问题多种多样且复杂，可能导致较低的体力活动（PA）和体质（PF）。本研究旨在探讨遗传性结缔组织病（HCTD）儿童的PA和PF。
■使用基于加速度计的活动监测仪（ActivPAL）和儿科残疾评估量表计算机自适应测试（PEDI-CAT）的移动性子量表评估PA。使用Fitkids跑步机测试（FTT）根据心血管耐力测量PF；最大的手握力，使用手握力测量法(HGD)作为肌肉力量的指标；和运动熟练度，使用Bruininks-Oseretsky运动能力测试-2(BOTMP-2)。
■总共56个孩子，年龄中位数为11.6岁(四分位数间距[IQR]，8.8-15.8）年，诊断为马凡氏综合征（MFS），n=37，Loeys-Dietz综合征（LDS），n=6，遗传证实Ehlers-Danlos（EDS）综合征，n=13（包括经典EDSn=10，血管EDSn=1，皮下EDSn=1，关节痛EDSn=1），参与。关于PA,患有HCTD的儿童每天活动4.5（IQR3.5-5.2）小时，花了9.2（IQR7.6-10.4）小时/天久坐，每天睡11.2（IQR9.5-11.5）小时，每天执行8,351.7（IQR6,456.9-1,0484.6）步。他们在PEDI-CAT迁移率子量表上得分低于平均值（平均值（标准偏差[SD]）z得分-1.4（1.6））。关于PF，与标准数据相比,患有HCTD的儿童在FFT(平均(SD)z评分-3.3(3.2))方面得分远低于平均水平,在HGD(平均(SD)z评分-1.1(1.2))方面得分低于平均水平.矛盾,BOTMP-2评分为平均值(平均值(SD)z-score.02(.98)).PA和PF之间存在中度正相关（r（39）=.378，p<.001）。疼痛强度和疲劳与活跃时间之间存在中等大小的负相关（分别为r（35）=.408，p<.001和r（24）=.395p<.001）。
■这项研究首次证明HCTD儿童中PA和PF降低。PF与PA呈中度正相关，与疼痛强度和疲劳呈负相关。心血管耐力降低，肌肉力量,和净化，结合疾病特异性心血管和肌肉骨骼特征，被假设为因果关系。确定PA和PF的局限性为量身定制的干预措施提供了起点。
■使用基于加速度计的活动监测仪（ActivPAL）和儿科残疾评估量表计算机自适应测试（PEDI-CAT）的移动性子量表评估PA。使用Fitkids跑步机测试（FTT）根据心血管耐力测量PF；最大的手握力，使用手握力测量法(HGD)作为肌肉力量的指标；和运动熟练度，使用Bruininks-Oseretsky运动能力测试-2(BOTMP-2)。
■总共56个孩子，年龄中位数为11.6岁(四分位数间距[IQR]，8.8-15.8）年，诊断为马凡氏综合征（MFS），n=37，Loeys-Dietz综合征（LDS），n=6，遗传证实Ehlers-Danlos（EDS）综合征，n=13（包括经典EDSn=10，血管EDSn=1，皮下EDSn=1，关节痛EDSn=1），参与。关于PA,患有HCTD的儿童每天活动4.5（IQR3.5-5.2）小时，花了9.2（IQR7.6-10.4）小时/天久坐，每天睡11.2（IQR9.5-11.5）小时，每天执行8,351.7（IQR6,456.9-1,0484.6）步。他们在PEDI-CAT迁移率子量表上得分低于平均值（平均值（标准偏差[SD]）z得分-1.4（1.6））。关于PF，与标准数据相比,患有HCTD的儿童在FFT(平均(SD)z评分-3.3(3.2))方面得分远低于平均水平,在HGD(平均(SD)z评分-1.1(1.2))方面得分低于平均水平.矛盾,BOTMP-2评分为平均值(平均值(SD)z-score.02(.98)).PA和PF之间存在中度正相关（r（39）=.378，p<.001）。疼痛强度和疲劳与活跃时间之间存在中等大小的负相关（分别为r（35）=.408，p<.001和r（24）=.395p<.001）。
■这项研究首次证明HCTD儿童中PA和PF降低。PF与PA呈中度正相关，与疼痛强度和疲劳呈负相关。心血管耐力降低，肌肉力量,和净化，结合疾病特异性心血管和肌肉骨骼特征，被假设为因果关系。确定PA和PF的局限性为量身定制的干预措施提供了起点。
