BACKGROUND The 22q11.2 deletion is associated with psychiatric and behavioural disorders, intellectual disability and multiple physical abnormalities. Recent research also indicates impaired coordination skills may be part of the clinical phenotype. This study aimed to characterise sensorimotor control abilities in children with 22q11.2 deletion syndrome (22q11.2DS) and investigate their relationships with co-occurring IQ impairments and psychopathology. METHODS Fifty-four children with 22q11.2DS and 24 unaffected sibling controls, comparable in age and gender, underwent kinematic analysis of their hand movements, whilst performing a battery of three visuo-manual coordination tasks that measured their tracking, aiming and steering abilities. Additionally, standardised assessments of full-scale IQ (FSIQ), attention deficit hyperactivity disorder, indicative autism spectrum disorder (ASD) and anxiety disorder symptomatology were conducted. RESULTS Children with 22q11.2DS showed deficits on seven of eight kinematic descriptors of movement quality across the three coordination tasks, compared to controls. Within 22q11.2DS cases, the extent of impairment on only three kinematic descriptors was significantly related to FSIQ after correction for multiple testing. Moreover, only error whilst visuo-manually tracking was nominally associated with ADHD symptom counts. CONCLUSIONS Impairments in sensorimotor control are seen on a range of visuo-manual tasks in children with 22q11.2DS but the extent of these impairments are largely unrelated to the severity of other psychopathological and intellectual impairments commonly found in children with 22q11.2DS.

中文翻译：

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使用运动学分析探索 22q11.2 缺失综合征儿童的感觉运动控制障碍。

背景 22q11.2 缺失与精神和行为障碍、智力障碍和多种身体异常有关。最近的研究还表明，协调能力受损可能是临床表型的一部分。本研究旨在描述 22q11.2 缺失综合征 (22q11.2DS) 儿童的感觉运动控制能力，并调查其与同时发生的智商障碍和精神病理学的关系。方法 54 名患有 22q11.2DS 的儿童和 24 名未受影响的兄弟姐妹，年龄和性别相当，对他们的手部动作进行运动学分析，同时执行一组三个视觉手动协调任务，测量他们的跟踪、瞄准和转向能力。此外，全面智商 (FSIQ)、注意力缺陷多动障碍、进行了指示性自闭症谱系障碍（ASD）和焦虑症症状学。结果 与对照组相比，患有 22q11.2DS 的儿童在三个协调任务中的八个运动学描述符中的七个表现出缺陷。在 22q11.2DS 病例中，经过多次测试校正后，仅三个运动学描述符的损伤程度与 FSIQ 显着相关。此外，只有视觉手动跟踪的错误名义上与 ADHD 症状计数相关。结论 在 22q11.2DS 儿童的一系列视觉手动任务中发现感觉运动控制受损，但这些损伤的程度在很大程度上与 22q11.2DS 儿童常见的其他精神病理学和智力障碍的严重程度无关。