Accinni Tommaso, Kotzalidis Georgios D, Irelli Emanuele Cerulli, Pasquini Massimo, Buzzanca Antonino
Department of Human Neurosciences, Sapienza University of Rome, Faculty of Medicine and Dentistry, Rome, Italy.
Department of Neurosciences, Mental Health, and Sensory Organs, Sapienza University of Rome, Faculty of Medicine and Psychology, Rome, Italy.
Int J Dev Neurosci. 2025 Apr;85(2):e70017. doi: 10.1002/jdn.70017.
The 22q11.2 deletion syndrome (22q11.2DS) represents a genetic condition at higher risk of transition to psychosis. Both self-esteem (SE), intended as self-evaluation based on cognitive and affective elements, and psychotic symptoms may be associated with patients' real-life functioning. We investigated whether these variables differently correlate with real-life functioning in 22q11.2DS.
We recruited 22 patients with 22q11.2DS (DEL, N = 22) and 10 with 22q11.2DS and psychosis (DEL-SCZ, N = 10); we administered the Positive And Negative Syndrome Scale (PANSS), the Specific Levels of Functioning scale (SLoF) and the Self Esteem Rating Scale (SERS).
The DEL-SCZ and DEL groups did not significantly differ on the SERS (p = 0.228). The DEL group scored higher than DEL-SCZ on the SLoF-total (p = 0.006) and on the SLoF-social functioning (p = 0.031). PANSS-total negatively correlated with SLoF-total scores (ρ = -0.698; p < 0.001), with the SLoF-social functioning (ρ = -0.643; p < 0.001) and with SERS (ρ = -0.391; p = 0.036). SERS scores positively correlated with SLoF-total (ρ = 0.545; p = 0.003) but not with SLoF-social functioning.
DEL and DEL-SCZ display similar levels of SE suggesting that this psychological dimension is not associated with psychotic symptoms. Levels of SE and psychopathology differentially relate to real-life and social functioning in people with 22q11.2DS: Symptom severity is particularly associated with patients' social and interpersonal functioning. Psychological supportive interventions might be useful to improve real-life functioning in people with 22q11.2DS.
22q11.2缺失综合征(22q11.2DS)是一种遗传疾病,向精神病转变的风险较高。自尊(SE),即基于认知和情感因素的自我评价,以及精神病症状可能都与患者的现实生活功能有关。我们调查了这些变量在22q11.2DS患者中与现实生活功能的相关性是否存在差异。
我们招募了22名22q11.2DS患者(DEL组,N = 22)和10名患有22q11.2DS且伴有精神病的患者(DEL-SCZ组,N = 10);我们使用了阳性和阴性症状量表(PANSS)、特定功能水平量表(SLoF)和自尊评定量表(SERS)。
DEL-SCZ组和DEL组在SERS量表上无显著差异(p = 0.228)。DEL组在SLoF总分(p = 0.006)和SLoF社会功能(p = 0.031)上得分高于DEL-SCZ组。PANSS总分与SLoF总分(ρ = -0.698;p < 0.001)、SLoF社会功能(ρ = -0.643;p < 0.001)以及SERS(ρ = -0.391;p = 0.036)呈负相关。SERS得分与SLoF总分呈正相关(ρ = 0.545;p = 0.003),但与SLoF社会功能无相关性。
DEL组和DEL-SCZ组显示出相似的自尊水平,表明这一心理维度与精神病症状无关。自尊水平和精神病理学与22q11.2DS患者的现实生活和社会功能存在不同的关联:症状严重程度尤其与患者的社会和人际功能相关。心理支持性干预可能有助于改善22q11.2DS患者的现实生活功能。