Developmental Imaging and Psychopathology lab, Department of Psychiatry, School of Medicine, University of Geneva, Geneva, Switzerland; Center for Contextual Psychiatry, Department of Neuroscience, KU Leuven, Leuven, Belgium.
Developmental Imaging and Psychopathology lab, Department of Psychiatry, School of Medicine, University of Geneva, Geneva, Switzerland; Child and Adolescence Neuropsychiatry Unit, Department of Neuroscience, Children Hospital Bambino Gesù, Rome, Italy.
Schizophr Res. 2019 Apr;206:386-393. doi: 10.1016/j.schres.2018.10.014. Epub 2018 Nov 7.
The 22q11.2 deletion syndrome (22q11DS) is one of the highest known risk factors for schizophrenia and recent findings have highlighted the clinical relevance of ultra-high risk (UHR) criteria in this population. However, studies in other at-risk populations have shown that the presence of negative symptoms (NS) is also of clinical relevance in predicting transition to psychosis. The present study examined in detail the presence and course of NS in 22q11DS, as well as their value in predicting transition to psychosis.
A total of 111 participants aged between 8 and 33 years were assessed with the Structured Interview for Psychosis-Risk Syndromes (SIPS). A follow-up assessment was available for 89 individuals.
Core NS of at least moderate severity were present in 50.5% of the sample and were more severe in individuals meeting UHR criteria. They predominantly remained stable over time and their emergence between baseline and follow-up assessment was associated with significant functional decline. Some NS were significant predictors of conversion to psychosis and the emergence/persistence of psychosis risk.
Altogether, these findings highlight that NS are core manifestations of psychosis in individuals with 22q11DS that strongly impact global functioning. The presence of NS should be a primary target of early therapeutic intervention in this population.
22q11.2 缺失综合征（22q11DS）是精神分裂症的已知最高风险因素之一，最近的研究结果强调了超高风险（UHR）标准在该人群中的临床相关性。然而，在其他高危人群中的研究表明，阴性症状（NS）的存在在预测精神病发作方面也具有临床意义。本研究详细研究了 22q11DS 中 NS 的存在和病程，以及它们在预测精神病发作方面的价值。
共有 111 名年龄在 8 至 33 岁之间的参与者接受了精神病风险综合征结构化访谈（SIPS）评估。89 名参与者可进行随访评估。
至少中度严重程度的核心 NS 存在于样本中的 50.5%，在符合 UHR 标准的个体中更为严重。它们主要随时间保持稳定，其在基线和随访评估之间的出现与显著的功能下降有关。一些 NS 是精神病发作转换和精神病风险出现/持续的显著预测因子。
总的来说，这些发现强调了 NS 是 22q11DS 个体精神病的核心表现，强烈影响整体功能。在该人群中，NS 的存在应成为早期治疗干预的主要目标。
