Center for Mind/Brain Sciences, University of Trento, Rovereto, Italy.
Laboratory for Autism and Neurodevelopmental Disorders, Center for Neuroscience and Cognitive Systems, Istituto Italiano di Tecnologia, Rovereto, Italy.
Mol Autism. 2024 Sep 3;15(1):36. doi: 10.1186/s13229-024-00618-0.
Motor difficulties are common in many, but not all, autistic individuals. These difficulties can co-occur with other problems, such as delays in language, intellectual, and adaptive functioning. Biological mechanisms underpinning such difficulties are less well understood. Poor motor skills tend to be more common in individuals carrying highly penetrant rare genetic mutations. Such mechanisms may have downstream consequences of altering neurophysiological excitation-inhibition balance and lead to enhanced behavioral motor noise.
This study combined publicly available and in-house datasets of autistic (n = 156), typically-developing (TD, n = 149), and developmental coordination disorder (DCD, n = 23) children (age 3-16 years). Autism motor subtypes were identified based on patterns of motor abilities measured from the Movement Assessment Battery for Children 2nd edition. Stability-based relative clustering validation was used to identify autism motor subtypes and evaluate generalization accuracy in held-out data. Autism motor subtypes were tested for differences in motor noise, operationalized as the degree of dissimilarity between repeated motor kinematic trajectories recorded during a simple reach-to-drop task.
Relatively 'high' (n = 87) versus 'low' (n = 69) autism motor subtypes could be detected and which generalize with 89% accuracy in held-out data. The relatively 'low' subtype was lower in general intellectual ability and older at age of independent walking, but did not differ in age at first words or autistic traits or symptomatology. Motor noise was considerably higher in the 'low' subtype compared to 'high' (Cohen's d = 0.77) or TD children (Cohen's d = 0.85), but similar between autism 'high' and TD children (Cohen's d = 0.08). Enhanced motor noise in the 'low' subtype was also most pronounced during the feedforward phase of reaching actions.
The sample size of this work is limited. Future work in larger samples along with independent replication is important. Motor noise was measured only on one specific motor task. Thus, a more comprehensive assessment of motor noise on many other motor tasks is needed.
Autism can be split into at least two discrete motor subtypes that are characterized by differing levels of motor noise. This suggests that autism motor subtypes may be underpinned by different biological mechanisms.
运动困难在许多自闭症患者中很常见,但并非所有自闭症患者都有这种情况。这些困难可能与语言、智力和适应功能方面的其他问题同时出现。支撑这些困难的生物学机制还不太清楚。运动技能较差的人在携带高度外显率的罕见基因突变的个体中更为常见。这种机制可能会对神经生理兴奋-抑制平衡产生下游影响,导致行为运动噪声增强。
本研究结合了自闭症患者(n=156)、典型发育者(TD,n=149)和发育性协调障碍(DCD,n=23)儿童(年龄 3-16 岁)的公开可用和内部数据集。自闭症运动亚型是根据从儿童运动评估测试 2 版(Movement Assessment Battery for Children 2nd edition)中测量的运动能力模式来确定的。基于稳定性的相对聚类验证用于识别自闭症运动亚型,并在保留数据中评估泛化准确性。通过操作化,即记录在简单的伸手-放下任务中重复运动运动轨迹之间的差异,来测试自闭症运动亚型的运动噪声差异。
可以检测到相对“高”(n=87)和“低”(n=69)自闭症运动亚型,并且在保留数据中以 89%的准确性进行泛化。相对“低”亚型的整体智力能力较低,独立行走的年龄较大,但在第一语言出现年龄、自闭症特征或症状学方面没有差异。与“高”(Cohen's d=0.77)或 TD 儿童(Cohen's d=0.85)相比,“低”亚型的运动噪声明显更高,但与自闭症“高”亚型相比,TD 儿童的运动噪声相似(Cohen's d=0.08)。“低”亚型的运动噪声在伸手动作的前馈阶段最为明显。
这项工作的样本量有限。在更大的样本中进行独立复制的未来工作很重要。本研究仅在一项特定的运动任务中测量运动噪声。因此,需要对许多其他运动任务进行更全面的运动噪声评估。
自闭症可以分为至少两种不同的运动亚型,其特征是运动噪声水平不同。这表明自闭症运动亚型可能由不同的生物学机制引起。