Institute for Language Sciences, Utrecht University, Trans 10, 3512 JK, Utrecht, The Netherlands.
Department of Pediatrics, Wilhelmina Children's Hospital, University Medical Center Utrecht, Lundlaan 6, 3584 EA, Utrecht, The Netherlands.
J Neurodev Disord. 2023 May 13;15(1):15. doi: 10.1186/s11689-023-09484-y.
BACKGROUND: 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. METHODS: 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. RESULTS: 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. CONCLUSION: 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.
背景：执行功能（EF）是各种认知功能的总称，这些功能在监测和规划以实现目标导向行为方面发挥作用。22q11.2 缺失综合征（22q11DS）是最常见的微缺失综合征，与多种躯体和认知症状相关，包括学龄期和青春期的 EF 损伤。然而，不同的 EF 领域的结果不同，且针对学龄前儿童的研究较少。由于 EF 与后期的精神病理学和适应功能密切相关，我们的第一个目标是研究患有 22q11DS 的学龄前儿童的 EF。我们的第二个目标是探索先天性心脏病（CHD）对 EF 能力的影响，因为 CHD 在 22q11DS 中很常见，并且与非综合征起源的 CHD 个体的 EF 损伤有关。
方法：所有患有 22q11DS 的儿童（n=44）和典型发育（TD）儿童（n=81）年龄在 3.0 至 6.5 岁之间，均参与了一项更大的前瞻性研究。我们使用测量视觉选择性注意、视觉工作记忆和测量广泛 EF 能力的任务。儿科心脏病专家根据病历确定 CHD 的存在。
结果：分析表明，22q11DS 患儿在选择性注意任务和工作记忆任务上的表现均优于 TD 同龄人。由于许多儿童无法完成广泛的 EF 任务，因此我们没有进行统计分析，而是提供了结果的定性描述。患有 22q11DS 且伴有或不伴有 CHD 的儿童的 EF 能力无差异。
结论：据我们所知，这是第一项在患有 22q11DS 的相对较大的学龄前儿童样本中测量 EF 的研究。我们的研究结果表明，EF 损伤在患有 22q11DS 的儿童的早期就已经存在。与之前对患有 22q11DS 的较大年龄儿童的研究一致，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，并有助于提高预后的准确性。
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