背景:执行功能(EF)是各种认知功能的总称,这些功能在监控和计划实现目标导向行为方面发挥作用。22q11.2缺失综合征(22q11DS),最常见的微缺失综合征,与许多躯体和认知症状有关,包括学龄期和青春期的EF障碍。然而,结果在不同的EF领域有所不同,对学龄前儿童的研究很少.由于EF与后来的精神病理学和适应性功能密切相关,我们的首要目标是研究22q11DS学龄前儿童的EF.我们的第二个目的是探索先天性心脏病(CHD)对EF能力的影响,由于CHD在22q11DS中很常见,并且在没有综合征起源的CHD患者中涉及EF损害。
方法:所有22q11DS儿童(n=44)和典型发育(TD)儿童(n=81)的年龄为3.0至6.5岁,参加了一项更大的前瞻性研究。我们执行测量视觉选择性注意力的任务,视觉工作记忆,和一项衡量广泛EF能力的任务。CHD的存在由儿科心脏病专家根据医疗记录确定。
结果:分析表明,患有22q11DS的儿童在选择性注意力任务和工作记忆任务上的表现优于TD同龄人。由于许多孩子无法完成广泛的EF任务,我们没有进行统计分析,但提供结果的定性描述。22q11DS伴CHD和不伴CHD的儿童之间的EF能力没有差异。
结论:据我们所知,这是第一项在相对较大的22q11DS幼儿样本中测量EF的研究。我们的结果表明,EF障碍已经存在于22q11DS儿童的早期。与以前对22q11DS年龄较大的儿童的研究一致,CHD似乎对EF表现没有影响。这些发现可能对早期干预具有重要意义,并支持提高预后准确性。
Executive functioning (EF) is an umbrella term for various cognitive functions that play a role in monitoring and planning to effectuate goal-directed behavior. The 22q11.2 deletion syndrome (
22q11DS), the most common microdeletion syndrome, is associated with a multitude of both somatic and cognitive symptoms, including EF impairments in school-age and adolescence. However, results vary across different EF domains and studies with preschool children are scarce. As EF is critically associated with later psychopathology and adaptive functioning, our first aim was to study EF in preschool children with 22q11DS. Our second aim was to explore the effect of a congenital heart defects (CHD) on EF abilities, as CHD are common in 22q11DS and have been implicated in EF impairment in individuals with CHD without a syndromic origin.
All children with
22q11DS (n = 44) and typically developing (TD) children (n = 81) were 3.0 to 6.5 years old and participated in a larger prospective study. We administered tasks measuring visual selective attention, visual working memory, and a task gauging broad EF abilities. The presence of CHD was determined by a pediatric cardiologist based on medical records.
Analyses showed that children with 22q11DS were outperformed by TD peers on the selective attention task and the working memory task. As many children were unable to complete the broad EF task, we did not run statistical analyses, but provide a qualitative description of the results. There were no differences in EF abilities between children with
22q11DS with and without CHDs.
To our knowledge, this is the first study measuring EF in a relatively large sample of young children with 22q11DS. Our results show that EF impairments are already present in early childhood in children with
22q11DS. In line with previous studies with older children with
22q11DS, CHDs do not appear to have an effect on EF performance. These findings might have important implications for early intervention and support the improvement of prognostic accuracy.