Zinkstok J R, Velders F, Rieken R, Houben M, Fiksinski A, van Amelsvoort T A M J, Boot E
Tijdschr Psychiatr. 2020;62(3):229-233.
The 22q11.2 deletion syndrome (22q11.2ds) is a genetic syndrome affecting multiple organ systems and is associated with increased risk of developing neuropsychiatric disorders. We describe a 15-year old female adolescent with 22q11.2ds, psychotic disorder, and catatonia. Individuals with 22q11.2ds are at increased risk of developing catatonia. Vulnerability for developing extrapyramidal symptoms and epileptic seizures may complicate pharmacological treatment for psychotic episodes. There may be a diagnostic delay of diagnosing Parkinson's disease in patients taking antipsychotics as parkinsonism may be viewed as a side effect. Health professionals working with people with 22q11.2ds should be aware of the increased prevalence of movement disorders and the threshold for referral to 22q11.2ds specialist services should be low.
22q11.2缺失综合征（22q11.2ds）是一种影响多个器官系统的遗传综合征，与神经精神疾病的发病风险增加有关。我们描述了一名患有22q11.2ds、精神障碍和紧张症的15岁女性青少年。患有22q11.2ds的个体患紧张症的风险增加。发生锥体外系症状和癫痫发作的易感性可能会使精神病发作的药物治疗复杂化。服用抗精神病药物的患者可能会出现帕金森病诊断延迟，因为帕金森症可能被视为副作用。与22q11.2ds患者打交道的卫生专业人员应意识到运动障碍的患病率增加，并且转诊至22q11.2ds专科服务的门槛应该较低。
