Reid Donna, Moss Jo, Nelson Lisa, Groves Laura, Oliver Chris
Cerebra Centre of Neurodevelopmental Disorders, University of Birmingham, Birmingham, UK.
Institute of Cognitive Neuroscience, University College London, London, UK.
J Neurodev Disord. 2017 Aug 15;9(1):29. doi: 10.1186/s11689-017-9208-7.
The aim of this study was to examine executive functioning in adolescents and adults with Cornelia de Lange syndrome (CdLS) to identify a syndrome and age-related profile of cognitive impairment.
Participants were 24 individuals with CdLS aged 13-42 years (M = 22; SD = 8.98), and a comparable contrast group of 21 individuals with Down syndrome (DS) aged 15-33 years (M = 24; SD = 5.82). Measures were selected to test verbal and visual fluency, inhibition, perseverance/flexibility, and working memory and comprised both questionnaire and performance tests.
Individuals with CdLS showed significantly greater impairment on tasks requiring flexibility and inhibition (rule switch) and on forwards span capacity. These impairments were also reported in the parent/carer-rated questionnaire measures. Backwards Digit Span was significantly negatively correlated with chronological age in CdLS, indicating increased deficits with age. This was not identified in individuals with DS.
The relative deficits in executive functioning task performance are important in understanding the behavioural phenotype of CdLS. Prospective longitudinal follow-up is required to examine further the changes in executive functioning with age and if these map onto observed changes in behaviour in CdLS. Links with recent research indicating heightened responses to oxidative stress in CdLS may also be important.
本研究旨在检查患有科妮莉亚·德朗热综合征（CdLS）的青少年和成年人的执行功能，以确定该综合征以及与年龄相关的认知障碍特征。
参与者为24名年龄在13 - 42岁（M = 22；SD = 8.98）的CdLS患者，以及21名年龄在15 - 33岁（M = 24；SD = 5.82）的唐氏综合征（DS）患者组成的可比对照组。选择了一些测量方法来测试言语和视觉流畅性、抑制能力、坚持性/灵活性以及工作记忆，包括问卷调查和表现测试。
CdLS患者在需要灵活性和抑制能力（规则切换）的任务以及顺向跨度能力方面表现出明显更大的损伤。这些损伤在家长/照顾者评定的问卷调查中也有报告。在CdLS患者中，倒背数字跨度与实际年龄显著负相关，表明随着年龄增长缺陷增加。在DS患者中未发现这种情况。
执行功能任务表现中的相对缺陷对于理解CdLS的行为表型很重要。需要进行前瞻性纵向随访，以进一步研究执行功能随年龄的变化，以及这些变化是否与CdLS中观察到的行为变化相对应。与最近研究表明CdLS对氧化应激反应增强之间的联系可能也很重要。
