Rare Diseases Research Group, Department of Molecular Medicine and Surgery, Karolinska Institutet, BioClinicum, J10:20, Visionsgatan 4, 171 64, Stockholm, Sweden.
Department of Clinical Genetics, Karolinska University Laboratory, Karolinska University Hospital Solna L5:03, 171 64, Stockholm, Sweden.
Orphanet J Rare Dis. 2021 Nov 7;16(1):472. doi: 10.1186/s13023-021-02098-4.
Individuals with Williams syndrome (WS) have an elevated risk for anxiety disorders throughout the life span, making it a research priority to identify the individual factors associated with anxiety. Most of the existing literature is based on questionnaire data and suggests that impaired executive functions (EF) increase the risk for anxiety in WS. The aim of this study was to use direct measures by trained clinicians to investigate the effects of general intelligence, inhibition, sustained attention, and working memory on anxiety in WS, to further elucidate potential underlying mechanisms.
Twenty-four individuals with WS participated in the study (mean age: 29 years, range: 9-53 years), together with at least one of their parents. The MINI international neuropsychiatric interview for DSM-5 was completed to establish clinical diagnosis of anxiety, and the Clinical Global Impression Scale - Severity was used for an expert rating of symptom severity. Intellectual abilities were measured using the Wechsler scales, and attention and inhibition using the Conner's Continuous Performance Test. In addition, a parent-report questionnaire measuring EF, learning and memory was collected.
In contrast to the apriori hypothesis, there was no significant association between anxiety and core elements of EF such as working memory, sustained attention, and inhibition (i.e. the process of restraining one's impulses or behaviour). Using ordinal logistic regression analyses, we showed that decreasing intelligence quotient (IQ) and age are associated with elevated anxiety. We confirmed these results in between-groups analyses (anxiety disorder vs no current anxiety disorder), and low IQ was associated with higher risk of having an anxiety diagnosis. In addition, Bayesian statistics gave substantial evidence for no significant association between anxiety and inhibition.
By using direct measures of psychological pathology and functioning, the current results provide a deeper characterisation of the WS phenotype and provide novel insights into the potential mechanisms underpinning anxiety.
患有威廉姆斯综合征(WS)的个体在整个生命周期中都有患焦虑症的风险增加,因此确定与焦虑相关的个体因素是研究的重点。现有的大多数文献都是基于问卷调查数据,表明执行功能(EF)受损会增加 WS 患焦虑症的风险。本研究旨在使用经过培训的临床医生的直接测量方法,研究一般智力、抑制、持续注意力和工作记忆对 WS 焦虑的影响,以进一步阐明潜在的机制。
24 名 WS 患者(平均年龄:29 岁,范围:9-53 岁)及其至少一位家长参加了研究。使用 MINI 国际神经精神障碍 DSM-5 访谈来确定焦虑的临床诊断,并使用临床总体印象量表-严重程度对症状严重程度进行专家评估。使用 Wechsler 量表测量智力能力,使用 Conner's 连续性能测试测量注意力和抑制能力。此外,还收集了一份测量 EF、学习和记忆的家长报告问卷。
与先验假设相反,焦虑与 EF 的核心要素(如工作记忆、持续注意力和抑制)之间没有显著关联(即抑制冲动或行为的过程)。使用有序逻辑回归分析,我们表明智商(IQ)和年龄的降低与焦虑增加有关。我们在组间分析(焦虑症与无当前焦虑症)中证实了这些结果,并且低智商与焦虑诊断的风险增加有关。此外,贝叶斯统计数据为焦虑与抑制之间无显著关联提供了实质性证据。
通过使用心理病理学和功能的直接测量方法,目前的结果更深入地描述了 WS 表型,并为焦虑症的潜在机制提供了新的见解。