Institut de Neurosciences Cognitives et Intégratives d'Aquitaine, Unité Mixte de Recherche 5287 CNRS, Université de Bordeaux, Zone nord Bât 2A, 2e étage, 146 rue Léo Saignat, 33076, Bordeaux, France.
CHU de Bordeaux, Service de génétique médicale, Bordeaux, France.
J Autism Dev Disord. 2017 Nov;47(11):3321-3332. doi: 10.1007/s10803-017-3259-1.
Rubinstein-Taybi syndrome (RTS) is a rare genetic disease that associates intellectual disability with somatic characteristics. We have conducted a study of the overall motor abilities of RTS participants. Static postural performance as well as gait parameters were somewhat decreased, although not significantly compared to typically developing (TD) participants. In contrast, the motor skills requiring a high level of visuomotor coordination were considerably degraded in RTS participants compared to TD participants. We also found that cognitive status was significantly correlated with performance for tasks requiring a higher level of visuomotor coordination in RTS but not TD participants. Our study demonstrates a reduction in the motor performance of RTS participants and a link between the level of intellectual disability and motor capacities.
鲁宾斯坦-泰比综合征（RTS）是一种罕见的遗传疾病，其特征为智力障碍和躯体特征。我们对 RTS 参与者的整体运动能力进行了研究。与正常发育（TD）参与者相比，尽管静态姿势表现和步态参数略有下降，但差异无统计学意义。相比之下，RTS 参与者在需要高度视动协调的运动技能方面明显差于 TD 参与者。我们还发现，在 RTS 参与者中，认知状态与需要更高水平视动协调的任务表现显著相关，但在 TD 参与者中则无相关性。我们的研究表明，RTS 参与者的运动表现降低，智力残疾程度与运动能力之间存在关联。
