Department of Psychology, Syracuse University, Syracuse, NY.
Cutler-Landsman Consulting LLC, Madison, WI.
J Dev Behav Pediatr. 2021;42(5):415-427. doi: 10.1097/DBP.0000000000000927.
22q11.2 deletion syndrome (22q11DS) is a common genetic deletion syndrome associated with psychiatric disorders and developmental delays. A significant amount of 22q11DS research literature is published annually; here, we focus exclusively on longitudinal data that have been published in the past 5 years regarding psychiatric disorders and/or cognitive and social development. After a review, areas for future research consideration and clinical recommendations are presented.
Articles were reviewed and organized in adherence with Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines for conducting systematic reviews. The literature search identified 852 studies, and 22 studies met inclusion criteria.
Longitudinal study findings indicate that developmental considerations for youth with 22q11DS should focus on the primacy and enduring nature of social and executive functioning deficits, attention-deficit/hyperactivity disorder, anxiety, and negative symptoms of psychosis.
From the diathesis of physiological conditions and genetic variance, 22q11DS and its associated phenotype of persistent cognitive deficits, comorbid psychiatric disorders, and social impairments likely conspire to increase the risk for stress in adolescence. The diathesis-stress framework, along with chronic stress, increases psychosis risk in individuals with 22q11DS. The existing literature has a heavy focus on the impact of the deletion on individual skills and attributes, such as cognition, but lacks information on the impact of the environment. Future 22q11DS research should consider specific aspects of social functioning, including interactions with parenting styles and family communication, as well as high demands in educational settings, as possible risk factors for psychosis.
22q11.2 缺失综合征（22q11DS）是一种常见的遗传缺失综合征，与精神障碍和发育迟缓有关。每年都有大量的 22q11DS 研究文献发表；在这里，我们专门关注过去 5 年中关于精神障碍和/或认知和社会发展的纵向数据。在回顾之后，提出了未来研究考虑的领域和临床建议。
根据系统评价和荟萃分析的首选报告项目指南对文章进行了回顾和组织，以进行系统评价。文献检索确定了 852 项研究，其中 22 项研究符合纳入标准。
纵向研究结果表明，22q11DS 青少年的发育考虑应侧重于社会和执行功能缺陷、注意力缺陷/多动障碍、焦虑和精神病阴性症状的首要和持久性质。
从生理条件和遗传变异的素质来看，22q11DS 及其相关的认知缺陷、共病精神障碍和社会障碍表型可能会增加青少年时期的压力风险。素质-应激框架以及慢性应激会增加 22q11DS 个体患精神病的风险。现有文献主要关注缺失对个体技能和属性的影响，如认知，但缺乏关于环境影响的信息。未来的 22q11DS 研究应考虑社会功能的特定方面，包括与父母教养方式和家庭沟通的互动，以及教育环境中的高要求，作为精神病的可能风险因素。
