Colijn Mark Ainsley
Department of Psychiatry, Mathison Centre for Mental Health Research and Education, Hotchkiss Brain Institute, University of Calgary, Calgary, Alberta, Canada.
Neuropsychobiology. 2023;82(5):263-270. doi: 10.1159/000531747. Epub 2023 Aug 22.
3q29 deletion syndrome is characterized by various developmental abnormalities, medical issues, and neuropsychiatric symptoms, including psychosis. Although this syndrome may confer the greatest risk for schizophrenia of any copy number variation, response to antipsychotic medication has infrequently been described in the literature, and no reviews on the topic currently exist. As such, the purpose of this article was to review treatment response in 3q29 deletion syndrome-associated psychosis. A review of the literature was completed in December 2022 for English language articles that described treatment response to antipsychotic medications in affected individuals with schizophrenia-like presentations. Five articles that collectively described eight individuals were included. Four individuals had a poor treatment response to non-clozapine antipsychotic medications, three had a partial response, and one individual's response to treatment was not described, despite having taken psychotropic medications of some kind. Additionally, three individuals received clozapine; one of whom partially responded, while two exhibited a good response. Treatment response did not clearly differ according to developmental history. 3q29 deletion syndrome may be associated with treatment-resistant psychotic symptoms. As such, clozapine therapy should be considered in such individuals, provided they meet criteria for treatment-resistant schizophrenia and no contraindications exist. However, this mini-review also highlights the need for more published case reports/series before more specific treatment recommendations can be made.
3q29缺失综合征的特征是存在各种发育异常、医学问题和神经精神症状,包括精神病。尽管在所有拷贝数变异中,该综合征可能是患精神分裂症风险最高的,但抗精神病药物治疗反应在文献中鲜有描述,目前也没有关于该主题的综述。因此,本文旨在综述3q29缺失综合征相关精神病的治疗反应。2022年12月,我们完成了对英文文章的文献综述,这些文章描述了患有精神分裂症样表现的受影响个体对抗精神病药物的治疗反应。纳入了五篇共描述八名个体的文章。四名个体对非氯氮平抗精神病药物治疗反应不佳,三名个体有部分反应,一名个体尽管服用了某种精神药物,但未描述其治疗反应。此外,三名个体接受了氯氮平治疗;其中一名有部分反应,两名反应良好。治疗反应根据发育史没有明显差异。3q29缺失综合征可能与难治性精神病症状有关。因此,对于符合难治性精神分裂症标准且无禁忌证的个体,应考虑使用氯氮平治疗。然而,这篇小型综述也强调,在能够提出更具体的治疗建议之前,需要有更多已发表的病例报告/系列研究。