Institute for Health & Sport, Victoria University, Melbourne, Australia.
Developmental Neuromotor and Cognition Lab, School of Psychology and Public Health, La Trobe University, Melbourne, Australia.
Sci Rep. 2024 Nov 25;14(1):29152. doi: 10.1038/s41598-024-80395-1.
In genetic syndromes such as Down syndrome (DS) and Williams syndrome (WS), difficulties with executive functioning (EF) are a commonly reported feature and a key correlate of long-term success in everyday life. Despite a robust literature in children with these syndromes, it remains unclear how cross-syndrome characteristics of everyday EF relate to adaptive functioning and intelligence among adults with DS and WS, and if these relationships differ between these groups. This study aimed to characterise the profile of strengths and weaknesses in everyday EF using the Behaviour Rating Inventory of Executive Function-Adult Informant Version (BRIEF-A) in older adolescents and young adults with DS and WS. Associations between distinct EFs, adaptive/maladaptive functioning, and intellectual ability were also investigated. Results showed that the WS group displayed profound impairments in almost all BRIEF-A scales, with a large percentage of scores in the clinically significant range. Further, selective EFs (Inhibit, Organisation of Materials, Task Monitor) were able to discriminate between the two genetic syndromes. Contrary to previous research, in WS, Working Memory was linked to adaptive functioning and IQ. In DS, the Task-Monitor and Shift scales were unique predictors of externalising and internalising behaviours, respectively. These findings could have important implications for targeted cognitive interventions in these genetic syndromes.
在唐氏综合征（DS）和威廉姆斯综合征（WS）等遗传综合征中，执行功能（EF）障碍是一个常见的特征，也是日常生活中长期成功的关键相关因素。尽管这些综合征患儿的相关文献丰富，但对于 DS 和 WS 成人的日常 EF 的跨综合征特征与适应功能和智力的关系，以及这些关系在两组之间是否存在差异，仍不清楚。本研究旨在使用行为评定量表-执行功能成人评定版（BRIEF-A），描述 DS 和 WS 中年龄较大的青少年和年轻人日常 EF 的优势和劣势特征。还研究了不同 EF、适应/适应不良功能和智力能力之间的关联。结果表明，WS 组在几乎所有 BRIEF-A 量表中都表现出严重的障碍，其中相当大比例的分数处于临床显著范围。此外，选择性 EF（抑制、材料组织、任务监测）能够区分这两种遗传综合征。与之前的研究相反，在 WS 中，工作记忆与适应功能和智商有关。在 DS 中，任务监测和转换量表分别是外化和内化行为的唯一预测因素。这些发现对于这些遗传综合征的有针对性的认知干预可能具有重要意义。
