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
{"title":"自闭症亚型中运动技能较差者的运动噪音增强。","authors":"Veronica Mandelli, Isotta Landi, Silvia Busti Ceccarelli, Massimo Molteni, Maria Nobile, Alessandro D'Ausilio, Luciano Fadiga, Alessandro Crippa, Michael V Lombardo","doi":"10.1186/s13229-024-00618-0","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>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.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Limitations: </strong>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.</p><p><strong>Conclusions: </strong>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.</p>","PeriodicalId":18733,"journal":{"name":"Molecular Autism","volume":null,"pages":null},"PeriodicalIF":6.3000,"publicationDate":"2024-09-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11370061/pdf/","citationCount":"0","resultStr":"{\"title\":\"Enhanced motor noise in an autism subtype with poor motor skills.\",\"authors\":\"Veronica Mandelli, Isotta Landi, Silvia Busti Ceccarelli, Massimo Molteni, Maria Nobile, Alessandro D'Ausilio, Luciano Fadiga, Alessandro Crippa, Michael V Lombardo\",\"doi\":\"10.1186/s13229-024-00618-0\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>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.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Limitations: </strong>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.</p><p><strong>Conclusions: </strong>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.</p>\",\"PeriodicalId\":18733,\"journal\":{\"name\":\"Molecular Autism\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":6.3000,\"publicationDate\":\"2024-09-03\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11370061/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Molecular Autism\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1186/s13229-024-00618-0\",\"RegionNum\":1,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Molecular Autism","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1186/s13229-024-00618-0","RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
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。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
查看原文
分享 分享
微信好友 朋友圈 QQ好友 复制链接
本刊更多论文
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.

求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
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
Contracted functional connectivity profiles in autism Task-based functional neural correlates of social cognition across autism and schizophrenia spectrum disorders Enhanced motor noise in an autism subtype with poor motor skills. Mapping neural correlates of biological motion perception in autistic children using high-density diffuse optical tomography. Association of polygenic scores for autism with volumetric MRI phenotypes in cerebellum and brainstem in adults.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
已复制链接
已复制链接
快去分享给好友吧!
我知道了
×
扫码分享
扫码分享
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1