Comparison of Treadmill Gait Between a Pediatric-Aged Individual With SYNGAP1-Related Intellectual Disability and a Fraternal Twin.
Comparison of Treadmill Gait Between a Pediatric-Aged Individual With SYNGAP1-Related Intellectual Disability and a Fraternal Twin.
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与Syngap1相关智障人士和兄弟双胞胎的儿科年龄个体之间的跑步机步态的比较。
DOI：
10.3389/fnhum.2022.918918
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发表时间：
2022
影响因子：
2.9
通讯作者：
中科院分区：
文献类型：
--
作者：
Syngap1相关智能障碍(SYNGAP1-ID)是一种罕见的神经发育疾病，其特征是严重的智能障碍、严重的运动发育迟缓和行为问题。共济失调和步态困难经常被观察到，但尚未通过基于实验室的运动学分析来表征。这项研究确定了一名SYNGAP1-ID患者的步态特征，并将其与一名神经典型的异卵双胞胎进行了比较。当两名参与者都在机动跑步机上行走时，用12个摄像头的运动捕捉系统收集了下肢运动学数据。运动学数据被分成步幅，并计算步幅时间。对100个样本进行矢状面的髋关节、膝关节和踝关节的过滤和时间归一化处理。通过步幅获得每个关节的最小和最大关节角度、运动范围(ROM)和角速度，并对每个参与者进行平均。还计算了左右关节之间的ROM对称性。离散相对位相(DRP)被用来评估单个肢体内关节之间的协调性和可变性，并比较不同肢体之间的协调性和可变性。相图按节理计算，面积用MatLab脚本计算。使用统计参数映射(SPM)评估受试者之间关节角波形的差异。具有SYNGAP1-ID的个体P1与同卵双胞胎P2相比，步幅显著减少。大多数最小、最大角度、ROMS和角速度在P1和P2之间有显著差异。与P2相比，P1的相像面积一直较小，在膝关节和脚踝对称性方面也存在差异。DRP显示个体间无差异，提示P_1‘S协调事件与神经典型步态时观察到的事件相似(P_2)。SPM显示P1的膝关节和踝关节左右腿之间有显着差异，而P2关节的左右两个关节的波形几乎相同。此外，SPM显示所有关节的P1和P2均有显著差异。这项调查确定了SYNGAP1-ID患者的几个主要步态特征，并利用线性和非线性分析对这些特征进行了全面的表征。虽然泛化能力有限，但这份报告为患有SYNGAP1-ID的个体提供了一个强有力的步态定量评估，并为未来的研究提供了一个分析途径。
SYNGAP1-related Intellectual Disability (SYNGAP1-ID) is a rare neurodevelopmental condition characterized by profound intellectual disability, gross motor delays, and behavioral issues. Ataxia and gait difficulties are often observed but have not yet been characterized by laboratory-based kinematic analyses. This investigation identified gait characteristics of an individual with SYNGAP1-ID and compared these with a neurotypical fraternal twin. Lower limb kinematics were collected with a 12-camera motion capture system while both participants walked on a motorized treadmill. Kinematic data were separated into strides, and stride times calculated. Sagittal plane hip, knee, and ankle joints were filtered and temporally normalized to 100 samples. Minimum and maximum joint angles, range of motion (ROM) and angular velocities were obtained for each joint by stride and averaged for each participant. ROM symmetry between left and right joints was also calculated. Discrete relative phase (DRP) was used to assess coordination and variability between joints within a single limb and compared across limbs. Phase portraits were calculated by joint, and their areas were computed with a MATLAB script. Statistical parametric mapping (SPM) was used to assess differences in joint angle waveforms between participants. P1, the individual with SYNGAP1-ID, displayed significantly reduced stride times relative to the fraternal twin, i.e., P2. A majority of minimum, maximum angles, ROMs, and angular velocities were significantly different between P1 and P2. Phase portrait areas were consistently less in P1 relative to P2 and there were differences in knee and ankle symmetries. DRP showed no differences between individuals, suggesting that P1’s coordinative events remained similar to those observed during neurotypical gait (P2). SPM revealed significant differences between the left and right legs at the knee and ankle joints of P1 while P2 joint left and right waveforms were nearly identical for all joints. Additionally, SPM revealed there were significant differences between P1 and P2 for all joints. This investigation identified several major gait features of an individual with SYNGAP1-ID and provided a comprehensive characterization of these features by utilizing both linear and non-linear analyses. While limited in generalizability, this report provides a strong quantitative appraisal of gait in an individual with SYNGAP1-ID as well as an analysis pathway for future investigations.
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影响因子：
1.7
作者：
Shetreat-Klein, Maya;Shinnar, Shlomo;Rapin, Isabelle
通讯作者：
Rapin, Isabelle
DOI：
10.1016/s0003-9993(03)00030-3
发表时间：
2003-08-01
影响因子：
4.3
作者：
Hsu, AL;Tang, PF;Jan, MH
通讯作者：
Jan, MH
影响因子：
3.8
作者：
Stöckel T;Jacksteit R;Behrens M;Skripitz R;Bader R;Mau-Moeller A
通讯作者：
Mau-Moeller A
影响因子：
2.4
作者：
Lythgo, Noel;Wilson, Cameron;Galea, Mary
通讯作者：
Galea, Mary
DOI：
10.1016/j.apmr.2007.08.142
发表时间：
2008-02-01
影响因子：
4.3
作者：
Patterson, Kara K.;Parafianowicz, Iwona;McIlroy, William E.
通讯作者：
McIlroy, William E.