22q11.2 Deletion Syndrome (22q11.2DS) is associated with high risk of psychiatric disorders and cognitive impairment. It remains unclear to what extent key cognitive skills are associated with psychopathology, and whether cognition is stable over time in 22q11.2DS. 236 children, adolescents and adults with 22q11.2DS and 106 typically developing controls were recruited from three sites across Europe. Measures of IQ, processing speed, sustained attention, spatial working memory and psychiatric assessments were completed. Cognitive performance in individuals was calculated relative to controls in different age groups (children (6-9 years), adolescents (10-17 years), adults (18+ years)). Individuals with 22q11.2DS exhibited cognitive impairment and higher rates of psychiatric disorders compared to typically developing controls. Presence of Autism Spectrum Disorder symptoms was associated with greater deficits in processing speed, sustained attention and working memory in adolescents but not children. Attention deficit hyperactivity disorder in children and adolescents and psychotic disorder in adulthood was associated with sustained attention impairment. Processing speed and working memory were more impaired in children and adults with 22q11.2DS respectively, whereas the deficit in sustained attention was present from childhood and remained static over developmental stages. Psychopathology was associated with cognitive profile of individuals with 22q11.2DS in an age-specific and domain-specific manner. Furthermore, magnitude of cognitive impairment differed by developmental stage in 22q11.2DS and the pattern differed by domain.

中文翻译：

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22q11.2 缺失综合征中儿童、青春期和成年期的认知缺陷以及与精神病理学的关联。

22q11.2 缺失综合征 (22q11.2DS) 与精神疾病和认知障碍的高风险相关。目前尚不清楚关键认知技能在多大程度上与精神病理学相关，以及认知是否在 22q11.2DS 中随着时间的推移保持稳定。从欧洲的三个地点招募了 236 名患有 22q11.2DS 的儿童、青少年和成人以及 106 名正常发育的对照。完成了智商、处理速度、持续注意力、空间工作记忆和精神评估的测量。个人的认知表现是相对于不同年龄组（儿童（6-9 岁）、青少年（10-17 岁）、成人（18 岁以上））的对照组计算的。与正常发育的对照组相比，患有 22q11.2DS 的个体表现出认知障碍和更高的精神疾病发生率。自闭症谱系障碍症状的存在与青少年处理速度、持续注意力和工作记忆的更大缺陷有关，但与儿童无关。儿童和青少年的注意力缺陷多动障碍和成年期的精神病与持续的注意力障碍有关。患有 22q11.2DS 的儿童和成人的处理速度和工作记忆分别受到更大的损害，而持续注意力的缺陷从儿童时期就存在，并且在发育阶段保持不变。精神病理学与 22q11.2DS 个体的认知特征以特定年龄和特定领域的方式相关。此外，22q11.2DS 的认知障碍程度因发育阶段而异，且模式因领域而异。