Unit of Neurorehabilitation I-Developmental Neurology and Functional Rehabilitation, I.R.C.C.S. E. Medea Scientific Institute-La Nostra Famiglia Association, Ostuni, Brindisi, Italy.
Res Dev Disabil. 2010 May-Jun;31(3):692-7. doi: 10.1016/j.ridd.2010.01.009. Epub 2010 Feb 13.
A twin study is an excellent means of assessing the contribution of heritability to motor behaviour. We present a movement video-analysis of a monozygotic twins pair with a motor repertoire which is almost totally constituted by persistent and subcontinuous motor stereotypies.
The specific aim of this study is to verify the heritable quantum of motor behaviour and to determine which among the motor patterns we analysed are more likely to be conditioned by inheritance.
Stereotyped movements were videotaped in two standardized sessions: at rest and in relation to preordained sensory stimulations. We estimated the concordance index (CI) between the observers to evaluate the reliability of the observations. The validity was accepted as being CI>0.80.
The results showed a very high concordance rate (>90%) for all the stereotypies analysed. An almost superimposable trend of the stereotyped movements was found both at rest and in relation to the sensory stimulations.
Such strong data suggest that genetic factors have a primary influence on all the movement disorders analysed. This study contributes to a better understanding of the complex relationships between genes and functions.
双胞胎研究是评估遗传性对运动行为贡献的极好手段。我们呈现了一对同卵双胞胎的运动视频分析，他们的运动模式几乎完全由持续和亚连续的运动刻板行为构成。
本研究的具体目的是验证运动行为的可遗传性，并确定我们分析的运动模式中哪些更有可能受到遗传的影响。
在两个标准化的会话中对刻板运动进行录像：休息时和与预定的感官刺激有关时。我们估计了观察者之间的一致性指数 (CI)，以评估观察的可靠性。当 CI>0.80 时，我们接受了有效性。
结果显示，所有分析的刻板运动都具有非常高的一致性率 (>90%)。在休息和感官刺激时，都发现了几乎相同的刻板运动趋势。
这些强有力的数据表明，遗传因素对所有分析的运动障碍都有主要影响。本研究有助于更好地理解基因和功能之间的复杂关系。
