Armando Marco, Schneider Maude, Pontillo Maria, Vicari Stefano, Debbané Martin, Schultze-Lutter Frauke, Eliez Stephan
Child and Adolescence Neuropsychiatry Unit, Department of Neuroscience, Children Hospital Bambino Gesù, Rome, Italy.
Developmental Imaging and Psychopathology Lab, Department of Psychiatry, School of Medicine, University of Geneva, Geneva, Switzerland.
PLoS One. 2017 Apr 13;12(4):e0174797. doi: 10.1371/journal.pone.0174797. eCollection 2017.
The 22q11.2 deletion syndrome (22q11DS) is one of the highest known risk factors for schizophrenia. Thus, the detection of 22q11DS patients at particularly high risk of psychosis is important, yet studies on the clinical significance of the widely used ultra-high risk (UHR) criteria in 22q11DS are inconclusive. Since age was reported to moderate clinical significance of UHR symptoms in community samples, we explored whether age at presentation of UHR symptoms and criteria may explain part of this heterogeneity.
111 patients with 22q11DS (8-30 years; 15.7±4.7) were assessed for UHR symptoms/criteria. Information on diagnoses, psychosocial functioning, and IQ were collected.
Any UHR symptom was reported by 38.7%, any UHR criterion by 27%. No significant influence of age on the prevalence of UHR symptoms or criteria was detected. Moreover, age did not significantly modulate the association between UHR symptoms and functioning. However, significant interaction terms suggested that younger age groups were more likely to meet UHR criteria in the presence of UHR symptoms compared to the adult group.
Compared to the general population, prevalence of UHR symptoms and criteria was 3.8-fold and 20.8-fold in our 22q11DS sample. Contrary to the general population, age only modulated the prevalence of UHR criteria among those with UHR symptoms, but not their prevalence per se or their clinical significance. This suggests that UHR symptoms might develop as a trait factor in terms of a genetically driven schizotypal disposition in 22q11DS, thus necessitating future studies on psychosis-risk indicators in this genetic high-risk group.
22q11.2缺失综合征(22q11DS)是已知的精神分裂症最高风险因素之一。因此,识别出精神病风险特别高的22q11DS患者很重要,但关于22q11DS中广泛使用的超高风险(UHR)标准的临床意义的研究尚无定论。由于据报道年龄会影响社区样本中UHR症状的临床意义,我们探讨了出现UHR症状和标准时的年龄是否可以解释这种异质性的部分原因。
对111例22q11DS患者(8 - 30岁;平均15.7±4.7岁)进行UHR症状/标准评估。收集了有关诊断、心理社会功能和智商的信息。
38.7%的患者报告有任何UHR症状,27%的患者符合任何UHR标准。未检测到年龄对UHR症状或标准患病率有显著影响。此外,年龄也未显著调节UHR症状与功能之间的关联。然而,显著的交互项表明,与成人组相比,较年轻年龄组在出现UHR症状时更有可能符合UHR标准。
与一般人群相比,我们的22q11DS样本中UHR症状和标准的患病率分别高出3.8倍和20.8倍。与一般人群不同,年龄仅调节了有UHR症状者中UHR标准的患病率,而非其本身的患病率或临床意义。这表明UHR症状可能是22q11DS中由遗传驱动的分裂型气质方面的一种特质因素发展而来,因此有必要对这个遗传高危群体中的精神病风险指标进行进一步研究。