Kulikova Katerina, Schneider Maude, McDonald McGinn Donna M, Dar Shira, Taler Michal, Schwartz-Lifshitz Maya, Eliez Stephan, Gur Raquel E, Gothelf Doron
Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, Israel.
The Pediatric Molecular Psychiatry Laboratory Sheba, Tel Hashomer, Israel.
Eur Child Adolesc Psychiatry. 2024 Dec;33(12):4371-4379. doi: 10.1007/s00787-024-02469-9. Epub 2024 Jun 4.
This retrospective study aims to investigate the evolution and clinical course of psychotic disorders from three large international cohorts of individuals with 22q11.2 deletion syndrome (22q11.2DS) (Tel Aviv, Philadelphia, and Geneva).
We followed 118 individuals with 22q11.2DS from several years before the onset to several years after the onset of psychotic disorders. Data from structured baseline assessment of psychiatric disorders, symptoms of prodrome, indicators and types of psychotic disorders were collected. Additionally, cognitive evaluation was conducted using the age-appropriate Wechsler Intelligence Scale. Electronic medical records were reviewed for medication usage, occupational status, living situation, and psychiatric hospitalizations.
At baseline evaluation, the most common psychiatric disorders were anxiety disorder (80%) and attention/deficit hyperactivity disorder (50%). The age of onset of prodromal symptoms and conversion to psychotic disorders were 18.6 ± 6.8 and 20.3 ± 7.2, respectively. The most common prodromal symptoms were exacerbation of anxiety symptoms and social isolation. Of the psychotic disorders, schizophrenia was the most common, occurring in 49% of cases. History of at least one psychiatric hospitalization was present in 43% of participants, and the number of psychiatric hospitalizations was 2.1 ± 1.4. Compared to the normalized chart, IQ scores in our cohort were lower after vs. before conversion to psychosis. Following conversion there was a decrease in the use of stimulants and antidepressants and an increase in antipsychotics use, and most individuals with 22q11.2DS were unemployed and lived with their parents.
Our results indicate that 22q11.2DS psychosis is like non-22q11.2DS in its course, symptoms, and cognitive and functional impairments.
这项回顾性研究旨在调查来自三个大型国际队列（特拉维夫、费城和日内瓦）的22q11.2缺失综合征（22q11.2DS）患者中精神障碍的演变和临床病程。
我们对118例22q11.2DS患者进行了随访，从精神障碍发病前数年到发病后数年。收集了来自精神障碍结构化基线评估、前驱症状、精神障碍指标和类型的数据。此外，使用适合年龄的韦氏智力量表进行认知评估。查阅电子病历以了解用药情况、职业状况、生活状况和精神科住院情况。
在基线评估时，最常见的精神障碍是焦虑症（80%）和注意力缺陷多动障碍（50%）。前驱症状的发病年龄和转化为精神障碍的年龄分别为18.6±6.8岁和20.3±7.2岁。最常见的前驱症状是焦虑症状加重和社交隔离。在精神障碍中，精神分裂症最常见，发生在49%的病例中。43%的参与者有至少一次精神科住院史，精神科住院次数为2.1±1.4次。与标准化图表相比，我们队列中的智商得分在转化为精神病后低于转化前。转化后，兴奋剂和抗抑郁药的使用减少，抗精神病药的使用增加，大多数22q11.2DS患者失业并与父母同住。
我们的结果表明，22q11.2DS精神病在病程、症状以及认知和功能损害方面与非22q11.2DS精神病相似。
