自闭症谱系障碍个体及其未受影响的亲生父母的感觉运动行为。

IF 3.9 2区 医学 Q1 BEHAVIORAL SCIENCES Autism Research Pub Date : 2025-02-17 DOI:10.1002/aur.70000
Erin K. Bojanek, Shannon E. Kelly, Lauren M. Schmitt, Stormi L. Pulver, John A. Sweeney, Andreas Sprenger, Kathryn E. Unruh, Matthew W. Mosconi
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引用次数: 0

摘要

感觉运动障碍在自闭症谱系障碍(ASD)中很常见,在未受影响的一级亲属中也很明显,这表明它们可能是与遗传性自闭症可能性相关的内表型。我们在多个运动行为和效应系统中测试了自闭症感觉运动障碍的熟悉性,并与父母的广义自闭症表型(BAP)特征有关。57名自闭症个体(先证)、109名父母和89名神经正常对照组完成了手动和眼动控制测试。感觉运动测试在涉及快速、前馈控制和持续、感觉反馈控制过程方面各不相同。亚组分析比较了父母至少一方表现出BAP性状(BAP+)和父母均不表现出BAP性状(BAP-)的家庭。结果显示,父母为BAP-的先证者(BAP-先证者)对快速动眼力行为的控制不典型,而BAP+的先证者与对照组相比,在持续的手动运动和动眼力行为方面表现出缺陷。与BAP阳性父母和对照组相比,BAP阳性父母表现出快速动眼力和持续手动运动能力受损。先证者及其亲生父母的快速动眼力行为具有高度的相关性。这些发现表明,快速动眼力行为在BAP-先证及其父母中有选择性地受到影响,可能反映了自闭症的家族性可能性,而不依赖于父母的自闭症特征。相比之下,BAP+先证者和BAP-父母的持续感觉运动行为受到影响,这表明自闭症与不同的家族通路有关。最后,非典型的扫视动态可能是自闭症的强内表型。这些发现提供了新的证据,快速和持续的感觉运动改变代表了自闭症遗传可能性的强大但独立的家族途径。
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Sensorimotor Behavior in Individuals With Autism Spectrum Disorder and Their Unaffected Biological Parents

Sensorimotor impairments are common in autism spectrum disorder (ASD) and evident in unaffected first-degree relatives, suggesting that they may serve as endophenotypes associated with inherited autism likelihood. We tested the familiality of sensorimotor impairments in autism across multiple motor behaviors and effector systems and in relation to parental broader autism phenotypic (BAP) characteristics. Fifty-seven autistic individuals (probands), 109 parents, and 89 neurotypical control participants completed tests of manual motor and oculomotor control. Sensorimotor tests varied in their involvement of rapid, feedforward control and sustained, sensory feedback control processes. Subgroup analyses compared families with at least one parent showing BAP traits (BAP+) and those in which neither parent showed BAP traits (BAP−). Results show that probands with BAP− parents (BAP− probands) showed atypical control of rapid oculomotor behaviors, while BAP+ probands showed impairments of sustained manual motor and oculomotor behaviors compared to controls. BAP− parents showed impaired rapid oculomotor and sustained manual motor abilities relative to BAP+ parents and controls. Rapid oculomotor behaviors were highly intercorrelated among probands and their biological parents. These findings indicate that rapid oculomotor behaviors are selectively impacted in BAP− probands and their parents and may reflect a familial likelihood for autism independent of parental autistic traits. In contrast, sustained sensorimotor behaviors were affected in BAP+ probands and BAP− parents, suggesting separate familial pathways associated with autism. Finally, atypical saccade dynamics may serve as strong endophenotypes for autism. These findings provide new evidence that rapid and sustained sensorimotor alterations represent strong but separate familial pathways of inherited likelihood for autism.

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来源期刊
Autism Research
Autism Research 医学-行为科学
CiteScore
8.00
自引率
8.50%
发文量
187
审稿时长
>12 weeks
期刊介绍: AUTISM RESEARCH will cover the developmental disorders known as Pervasive Developmental Disorders (or autism spectrum disorders – ASDs). The Journal focuses on basic genetic, neurobiological and psychological mechanisms and how these influence developmental processes in ASDs.
期刊最新文献
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