自闭症亚型中运动技能较差者的运动噪音增强。

IF 6.3 1区 医学 Q1 GENETICS & HEREDITY Molecular Autism Pub Date : 2024-09-03 DOI:10.1186/s13229-024-00618-0
Veronica Mandelli, Isotta Landi, Silvia Busti Ceccarelli, Massimo Molteni, Maria Nobile, Alessandro D'Ausilio, Luciano Fadiga, Alessandro Crippa, Michael V Lombardo
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引用次数: 0

摘要

背景:运动障碍常见于许多自闭症患者,但并非所有自闭症患者。这些困难可能与其他问题同时出现,如语言、智力和适应功能方面的迟缓。人们对造成这些障碍的生物学机制还不甚了解。运动能力差往往更常见于携带高渗透性罕见基因突变的个体。这些机制可能会产生改变神经生理兴奋-抑制平衡的下游后果,并导致行为运动噪声增强:本研究结合了自闭症儿童(156 人)、典型发育障碍儿童(149 人)和发育协调障碍儿童(23 人)(3-16 岁)的公开数据集和内部数据集。自闭症运动亚型是根据儿童运动评估电池第二版测量的运动能力模式确定的。采用基于稳定性的相对聚类验证来识别自闭症运动亚型,并评估保留数据的泛化准确性。测试了自闭症运动亚型在运动噪音方面的差异,运动噪音是指在简单的 "伸手投掷 "任务中记录的重复运动轨迹之间的差异程度:结果:可以检测出相对 "高"(87 人)和 "低"(69 人)的自闭症运动亚型,这些亚型在保留数据中的通用准确率为 89%。相对 "低 "亚型的一般智力水平较低,独立行走的年龄较大,但在首次开口说话的年龄、自闭症特征或症状方面没有差异。与 "高"(Cohen's d = 0.77)或 TD 儿童(Cohen's d = 0.85)相比,"低 "亚型儿童的运动噪音要高得多,但自闭症 "高 "儿童与 TD 儿童的运动噪音相似(Cohen's d = 0.08)。在伸手动作的前馈阶段,"低 "亚型儿童的运动噪声增强也最为明显:局限性:这项研究的样本量有限。局限性:这项研究的样本量有限,未来在更大样本中进行独立重复研究非常重要。仅在一项特定的运动任务中测量了运动噪音。因此,需要对许多其他运动任务的运动噪音进行更全面的评估:结论:自闭症至少可分为两种不同的运动亚型,它们的运动噪声水平各不相同。这表明自闭症运动亚型可能由不同的生物机制支撑。
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Enhanced motor noise in an autism subtype with poor motor skills.

Background: 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.

Methods: 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.

Results: 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.

Limitations: 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.

Conclusions: 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.

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来源期刊
Molecular Autism
Molecular Autism GENETICS & HEREDITY-NEUROSCIENCES
CiteScore
12.10
自引率
1.60%
发文量
44
审稿时长
17 weeks
期刊介绍: Molecular Autism is a peer-reviewed, open access journal that publishes high-quality basic, translational and clinical research that has relevance to the etiology, pathobiology, or treatment of autism and related neurodevelopmental conditions. Research that includes integration across levels is encouraged. Molecular Autism publishes empirical studies, reviews, and brief communications.
期刊最新文献
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