22q11.2缺失综合征的现实功能与神经认知能力和精神病症状的关系:与特发性精神分裂症的比较

IF 2.1 2区 医学 Q1 EDUCATION, SPECIAL
Tommaso Accinni, Marianna Frascarelli, Pierluigi Cordellieri, Georgios D Kotzalidis, Martina Fanella, Carlo Di Bonaventura, Carolina Putotto, Bruno Marino, Paola Bucci, Luigi Giuliani, Annalisa Maraone, Massimo Pasquini, Fabio Di Fabio, Antonino Buzzanca
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引用次数: 0

摘要

背景:22q11.2缺失综合征(22q11.2 ds)会导致智力障碍和更高的精神障碍风险。神经认知缺陷预示着精神分裂症患者的现实生活功能。我们调查了22q11.2DS的现实生活功能,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22q11.2DS合并精神病患者(DEL-SCZ, N = 19),年龄、性别和神经认知特征均相匹配;采用阳性和阴性症状量表(PANSS)、简短阴性症状量表(BNSS)、特定功能水平量表(SLoF)和改善精神分裂症共识认知电池(MCCB)认知的测量与治疗研究。我们实施了描述性分析、方差分析和线性回归统计。结果:DEL-SCZ组与SCZ组在人际关系量表(p = 0.093)和社会可接受性量表(p = 0.283)上的水平相近。与SCZ组相比,DEL组在人际关系子量表上得分更高(p = 0.001)。两组在其他SLoF量表上的得分相似。两个BNSS总分(beta = -0.343;p = 0.004)和BNSS社会性(β = -0.487;p = 0.038)显著预测精神病组(SCZ和DEL-SCZ)的人际关系变量。讨论与结论:22q11.2DS患者与慢性精神分裂症患者在现实生活中表现出相似的功能。社会功能障碍是精神病的典型特征,与遗传条件无关,并且与社会性等负面症状高度相关。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。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Real-Life Functioning in 22q11.2 Deletion Syndrome in Relation to Neurocognitive Abilities and Psychotic Symptoms: A Comparison With Idiopathic Schizophrenia.

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.

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来源期刊
CiteScore
5.60
自引率
5.60%
发文量
81
期刊介绍: The Journal of Intellectual Disability Research is devoted exclusively to the scientific study of intellectual disability and publishes papers reporting original observations in this field. The subject matter is broad and includes, but is not restricted to, findings from biological, educational, genetic, medical, psychiatric, psychological and sociological studies, and ethical, philosophical, and legal contributions that increase knowledge on the treatment and prevention of intellectual disability and of associated impairments and disabilities, and/or inform public policy and practice. Expert reviews on themes in which recent research has produced notable advances will be included. Such reviews will normally be by invitation.
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