22q11.2缺失综合征患者在现实生活中的功能表现与神经认知能力及精神病性症状的关系：与特发性精神分裂症的比较
Real-Life Functioning in 22q11.2 Deletion Syndrome in Relation to Neurocognitive Abilities and Psychotic Symptoms: A Comparison With Idiopathic Schizophrenia.
作者信息
Accinni Tommaso, Frascarelli Marianna, Cordellieri Pierluigi, Kotzalidis Georgios D, Fanella Martina, Di Bonaventura Carlo, Putotto Carolina, Marino Bruno, Bucci Paola, Giuliani Luigi, Maraone Annalisa, Pasquini Massimo, Di Fabio Fabio, Buzzanca Antonino
机构信息
Department of Human Neurosciences, Faculty of Medicine and Dentistry, Sapienza University of Rome, Rome, Italy.
Department of Psychology, Sapienza University of Rome, Rome, Italy.
出版信息
J Intellect Disabil Res. 2025 Mar;69(3):177-192. doi: 10.1111/jir.13200. Epub 2024 Nov 29.
BACKGROUND
The 22q11.2 deletion syndrome (22q11.2DS) entails intellectual disabilities and higher risk of psychotic disorders. Neurocognitive deficits predict real-life functioning of schizophrenic patients. We investigated real-life functioning in 22q11.2DS, aiming at defining how neurocognitive profile and psychopathological variables impact on psychotic patients' social functioning.
METHODS
We recruited 63 patients with schizophrenia (SCZ, N = 63), 44 with 22q11.2DS (DEL, N = 44) and 19 with 22q11.2DS and psychosis (DEL-SCZ, N = 19), all matched for age, sex and neurocognitive profile; we administered the Positive and Negative Syndrome Scale (PANSS), the Brief Negative Symptom Scale (BNSS), the Specific Levels of Functioning (SLoF) scale and the Measurement and Treatment Research to Improve Cognition in Schizophrenia Consensus Cognitive Battery (MCCB). We implemented descriptive analyses, MANCOVA and linear regression statistics.
RESULTS
The DEL-SCZ and the SCZ groups showed similar levels in Interpersonal Relationships (p = 0.093) and Social Acceptability subscales (p = 0.283). The DEL group scored higher on the Interpersonal Relationships subscale compared with the SCZ group (p = 0.001). The groups scored similarly on the other SLoF subscales. Both BNSS total score (beta = -0.343; p = 0.004) and BNSS asociality (beta = -0.487; p = 0.038) significantly predicted the Interpersonal Relationships variable in the groups with psychosis (SCZ and DEL-SCZ).
DISCUSSION AND CONCLUSIONS
Individuals with 22q11.2DS display a similar real-life functioning to patients with chronic schizophrenia. Social functioning impairments are typical of psychosis regardless of the genetic condition and highly predicted by negative symptoms like asociality. The 22q11.2DS represents a reliable biological model to study vulnerability to psychosis and its consequences on patients' real-life and social functioning.
背景
22q11.2缺失综合征（22q11.2DS）会导致智力残疾以及患精神障碍的风险增加。神经认知缺陷可预测精神分裂症患者的现实生活功能。我们对22q11.2DS患者的现实生活功能进行了研究，旨在确定神经认知特征和精神病理变量如何影响精神病患者的社会功能。
方法
我们招募了63例精神分裂症患者（SCZ，N = 63）、44例22q11.2DS患者（DEL，N = 44）和19例患有22q11.2DS且伴有精神病的患者（DEL-SCZ，N = 19），所有患者在年龄、性别和神经认知特征方面均匹配；我们使用了阳性和阴性症状量表（PANSS）、简明阴性症状量表（BNSS）、特定功能水平（SLoF）量表以及改善精神分裂症认知的测量与治疗研究共识认知成套测验（MCCB）。我们进行了描述性分析、多变量协方差分析和线性回归统计。
结果
DEL-SCZ组和SCZ组在人际关系（p = 0.093）和社会可接受性子量表上的得分相似（p = 0.283）。与SCZ组相比，DEL组在人际关系子量表上的得分更高（p = 0.001）。在其他SLoF子量表上，各组得分相似。BNSS总分（β = -0.343；p = 0.004）和BNSS社交退缩（β = -0.487；p = 0.038）均显著预测了患有精神病的组（SCZ和DEL-SCZ）中的人际关系变量。
讨论与结论
22q11.2DS个体的现实生活功能与慢性精神分裂症患者相似。无论遗传状况如何，社会功能损害都是精神病的典型特征，并且由社交退缩等阴性症状高度预测。22q11.2DS是研究精神病易感性及其对患者现实生活和社会功能影响的可靠生物学模型。
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