The Hesley Group, Doncaster, UK & School of Psychology, University of Leicester, Hesley Hall, Stripe Road, Tickhill, Doncaster DN11 9HH, United Kingdom.
Res Dev Disabil. 2011 Nov-Dec;32(6):2206-13. doi: 10.1016/j.ridd.2011.05.039. Epub 2011 Jul 20.
The behavioural phenotype of velocardiofacial syndrome (VCFS), one of the most common human multiple anomaly syndromes, includes developmental disabilities, frequently including intellectual disability (ID) and high risk of diagnosis of psychotic disorders including schizophrenia. VCFS may offer a model of the relationship between ID and risk of major mental health difficulties. This paper reviews literature on the cognitive phenotype and its relationship with a polymorphism of the gene coding for catechol O-methyltransferase (COMT), a gene haploinsufficient in VCFS which modulates prefrontal dopamine levels. Principal features of the variable cognitive phenotype of VCFS in young people are ID, superiority of verbal over performance I.Q. and verbal over visuospatial memory, and difficulties with number and object magnitude comparisons, time perception and memory for serial order, and orienting of attention. Despite some improvements with age, problems with higher order attentional tasks involving planning persist, possibly modulated by COMT activity levels. Candidate cognitive endophenotypes include problems with retrieval of contextual information from memory and in executive control and focussing of attention. Longitudinal research using common core batteries of psychometric assessments, and experimental measures of cognitive function capable of direct translation for use with animal models, will further advance understanding of the developmental dynamics of VCFS.
唐氏综合征（VCFS）是最常见的人类多种异常综合征之一，其行为表型包括发育障碍，常伴有智力障碍（ID）和精神障碍（包括精神分裂症）的高风险。VCFS 可能为 ID 与主要精神健康问题的风险之间的关系提供模型。本文综述了有关认知表型及其与儿茶酚-O-甲基转移酶（COMT）基因编码基因多态性的关系的文献，该基因在 VCFS 中为单倍不足，调节前额叶多巴胺水平。VCFS 年轻人可变认知表型的主要特征是 ID、言语智商优于操作智商、言语记忆优于视空间记忆，以及在数字和物体大小比较、时间感知和序列记忆以及注意力定向方面存在困难。尽管随着年龄的增长有所改善，但仍存在涉及计划的高级注意力任务的问题，这可能受到 COMT 活性水平的调节。候选认知内表型包括从记忆中检索上下文信息以及在执行控制和注意力集中方面存在问题。使用常见的心理评估核心电池和可直接用于动物模型的认知功能实验测量进行纵向研究，将进一步深入了解 VCFS 的发展动态。
