BACKGROUND Autism spectrum disorder (ASD) is highly prevalent in fragile X syndrome (FXS), affecting 50-70% of males. Motor impairments are a shared feature across autism and FXS that may help to better characterize autism in FXS. As motor skills provide a critical foundation for various language, cognitive, and social outcomes, they may serve an important mechanistic role for autism in FXS. As such, this study aimed to identify differences in motor trajectories across direct assessment and parent-report measures of fine and gross motor development between FXS with and without autism, and typical development, while controlling for cognitive functioning. METHODS This prospective longitudinal study included 42 children with FXS, 24 of whom also had ASD (FXS + ASD), as well as 40 typically developing children. The Mullen Scales of Early Learning provided a direct measure of fine and gross motor skills, and the Vineland Adaptive Behavior Scales provided a measure of parent-reported fine and gross motor skills. Random slopes and random intercepts multilevel models were tested to determine divergence in developmental motor trajectories between groups when controlling for cognitive level. RESULTS Model results indicated the children with FXS + ASD diverged from TD children by 9-months on all measures of gross and fine motor skills, even when controlling for cognitive level. Results also indicated an early divergence in motor trajectories of fine and gross motor skills between the FXS + ASD and FXS groups when controlling for cognitive level. This divergence was statistically significant by 18 months, with the FXS + ASD showing decelerated growth in motor skills across direct observation and parent-report measures. CONCLUSIONS This study is the first to examine longitudinal trends in motor development in children with FXS with and without comorbid ASD using both direct assessment and parent-report measures of fine and gross motor. Furthermore, it is among the first to account for nonverbal cognitive delays, a step towards elucidating the isolated role of motor impairments in FXS with and without ASD. Findings underscore the role of motor impairments as a possible signal representing greater underlying genetic liability, or as a potential catalyst or consequence, of co-occurring autism in FXS.

中文翻译：

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发育差异：患有和不患有自闭症的脆性X综合征儿童的运动轨迹。

背景技术自闭症谱系障碍（ASD）在脆性X综合征（FXS）中非常普遍，影响了50-70％的男性。运动障碍是自闭症和FXS的共同特征，可能有助于更好地表征FXS中的自闭症。由于运动技能为各种语言，认知和社交结果提供了至关重要的基础，因此它们可能对FXS中的自闭症起重要的机械作用。因此，本研究旨在在控制认知功能的同时，通过有无自闭症的FXS与典型发展之间的直接评估以及父母报告的精细和总体运动发育的父母报告测量来确定运动轨迹的差异。方法这项前瞻性纵向研究包括42名FXS儿童，其中24名也患有ASD（FXS + ASD），以及40名典型的发育中儿童。早期学习的Mullen量表提供了精细和粗略运动技能的直接量度，而Vineland适应行为量表提供了父母报告的精细和粗略运动技能的量度。测试了随机斜率和随机截距多层次模型，以确定控制认知水平时各组之间发展运动轨迹的差异。结果模型结果表明，即使在控制认知水平的情况下，FXS + ASD患儿与TD患儿在粗略和精细运动技能的所有衡量指标上相差9个月。结果还表明，在控制认知水平时，FXS + ASD和FXS组之间的精细和粗略运动技能的运动轨迹有较早的差异。到18个月时，这种差异在统计学上是显着的 FXS + ASD在直接观察和父母报告测量中显示出运动技能的增长减慢。结论本研究是第一个通过直接评估和父母报告的精细和粗大运动量度方法研究患有或不伴有合并症的ASD的FXS儿童运动发育的纵向趋势的研究。此外，它是第一个解决非语言认知延迟的方法，这是阐明具有或不具有ASD的FXS中运动障碍的孤立作用的一步。研究结果强调了运动障碍的作用，即可能的信号代表了更大的潜在遗传责任，或者是FXS同时发生的自闭症的潜在催化剂或后果。结论本研究是第一个通过直接评估和父母报告的精细和粗大运动量度方法研究患有或不伴有合并症的ASD的FXS儿童运动发育的纵向趋势的研究。此外，它是第一个解决非语言认知延迟的方法，这是阐明具有或不具有ASD的FXS中运动障碍的孤立作用的一步。研究结果强调了运动障碍的作用，即可能的信号代表了更大的潜在遗传责任，或作为FXS同时发生的自闭症的潜在催化剂或后果。结论本研究是第一个通过直接评估和父母报告的精细和粗大运动量度方法研究患有或不伴有合并症的ASD的FXS儿童运动发育的纵向趋势的研究。此外，它是第一个解决非语言认知延迟的方法，这是阐明具有或不具有ASD的FXS中运动障碍的孤立作用的一步。研究结果强调了运动障碍的作用，即可能的信号代表了更大的潜在遗传责任，或作为FXS同时发生的自闭症的潜在催化剂或后果。阐明具有或不具有ASD的FXS中运动障碍的孤立作用的一步。研究结果强调了运动障碍的作用，即可能的信号代表了更大的潜在遗传责任，或者是FXS同时发生的自闭症的潜在催化剂或后果。阐明具有或不具有ASD的FXS中运动障碍的孤立作用的一步。研究结果强调了运动障碍的作用，即可能的信号代表了更大的潜在遗传责任，或作为FXS同时发生的自闭症的潜在催化剂或后果。