Abstract：
The 22q11.2 deletion syndrome (22q11.2DS), affects physical as well as cognitive and emotional functioning with increased risk for psychiatric and behavioral problems. This longitudinal study of 79 individuals (18-50 years) with 22q11.2DS investigated neurodevelopmental (NDD) and psychiatric disorders in adulthood, evaluated the stability of childhood diagnoses over time, and examined associations between clinical characteristics in childhood/adolescence and diagnostic outcome in adult age. Examination using validated instruments for cognitive, psychiatric, and global functional problems in the context of an in-depth clinical evaluation found adult age stability of NDD diagnoses made in childhood, however, rates increased at follow-up. Rates of anxiety, mood, and psychotic disorders were high, with a majority meeting diagnostic criteria for one or more psychiatric disorder. The rate of psychotic disorders was much lower compared to many other studies. Variability in functioning at follow-up was primarily associated with intellectual ability at T1. The findings obtained highlight the increased risk of NDD and psychiatric problems and of cognitive impairment and reduced levels of global functioning over time. Results emphasize the importance of clinical follow-up to enable appropriate support for the promotion of optimal health along with a need for future research on effective interventions and treatment strategies.
摘要：
22q11.2缺失综合征（22q11.2DS），影响身体以及认知和情绪功能，增加精神病和行为问题的风险。这项对79例（18-50岁）的22q11.2DS的纵向研究调查了成年期的神经发育（NDD）和精神疾病，评估了儿童诊断随时间的稳定性，并检查了儿童期/青春期的临床特征与成年诊断结果之间的关联。使用经过验证的认知工具进行检查，精神病学,在深入的临床评估的背景下，全球功能问题发现，儿童时期NDD诊断的成人年龄稳定性，然而,率在后续增加。焦虑率，心情,精神病性障碍很高，多数符合一种或多种精神疾病的诊断标准。与许多其他研究相比，精神病的发病率要低得多。随访时功能的变异性主要与T1时的智力有关。获得的发现强调了NDD和精神病问题以及认知障碍的风险增加，以及随着时间的推移全球功能水平降低。结果强调了临床随访的重要性，以便为促进最佳健康提供适当的支持，同时需要对有效的干预措施和治疗策略进行未来研究。
