Tommaso Accinni, Martina Fanella, Marianna Frascarelli, Antonino Buzzanca, Georgios D. Kotzalidis, Carolina Putotto, Bruno Marino, Alessia Panzera, Antonella Moschillo, Massimo Pasquini, Massimo Biondi, Carlo Di Bonaventura, Fabio Di Fabio
{"title":"22q11.2缺失综合征精神病高遗传风险个体运动症状、体征和帕金森病与面部情绪识别缺陷的关系","authors":"Tommaso Accinni, Martina Fanella, Marianna Frascarelli, Antonino Buzzanca, Georgios D. Kotzalidis, Carolina Putotto, Bruno Marino, Alessia Panzera, Antonella Moschillo, Massimo Pasquini, Massimo Biondi, Carlo Di Bonaventura, Fabio Di Fabio","doi":"10.1155/2023/8546610","DOIUrl":null,"url":null,"abstract":"<div>\n <p><i>Background</i>. The 22q11.2 Deletion Syndrome (22q11.2DS) is a genetic condition at high risk of developing both psychosis and motor disorders. Social Cognition (SC) deficits have been associated not only with schizophrenia but also with Parkinson’s disease (PD). The present study assessed SC deficits in 22q11.2DS and investigated the interaction between motor symptoms and deficits in Facial Emotion Expressions (FEE) recognition and in Theory of Mind (ToM) tasks in people with 22q11.2DS. <i>Methods</i>. We recruited 38 individuals with 22q11.2DS without psychosis (<i>N</i> = 38, DEL) and 18 with 22q11.2DS and psychosis (<i>N</i> = 18, DEL_SCZ). The <i>Positive And Negative Syndrome Scale</i> (PANSS), <i>Ekman’s 60 Faces Test</i> (EK-60F), the <i>Awareness of Social Inference Test</i> (TASIT EmRec), and the <i>Movement Disorder Society-Unified Parkinson’s Disease Rating Scale part III</i> (UPDRS III) were administered. Correlations were sought between UPDRS III and both TASIT EmRec and EK-60F scores. Analyses were conducted separately for each psychopathological subgroup. <i>Results</i>. Higher UPDRS III (<i>p</i> = 0.04) and lower EK-60F (<i>p</i> = 0.025) scores were observed in the DEL_SCZ group. We found inverse correlations between UPDRS III and both TASIT EmRec (<i>r</i> = −0.289, <i>p</i> = 0.031) and EK-60F (<i>r</i> = −0.387, <i>p</i> = 0.006) scores in the whole sample. Correlations were no longer significant in the DEL_SCZ group (UPDRS III-TASIT EmRec <i>p</i> = 0.629; UPDRS III-EK60F <i>p</i> = 0.933) whilst being stronger in the DEL group (TASIT EmRec, <i>r</i> = −0.560, <i>p</i> < 0.001; EK60F, <i>r</i> = −0.542, <i>p</i> < 0.001). Analyses were adjusted for CPZ Eq and IQ. <i>Conclusions</i>. A modulation between FEE recognition deficits and motor symptoms and signs was observed in the 22q11.2DS group, likely affecting patients’ quality of life.</p>\n </div>","PeriodicalId":6939,"journal":{"name":"Acta Neurologica Scandinavica","volume":"2023 1","pages":""},"PeriodicalIF":2.9000,"publicationDate":"2023-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1155/2023/8546610","citationCount":"0","resultStr":"{\"title\":\"The Relationship between Motor Symptoms, Signs, and Parkinsonism with Facial Emotion Recognition Deficits in Individuals with 22q11.2 Deletion Syndrome at High Genetic Risk for Psychosis\",\"authors\":\"Tommaso Accinni, Martina Fanella, Marianna Frascarelli, Antonino Buzzanca, Georgios D. Kotzalidis, Carolina Putotto, Bruno Marino, Alessia Panzera, Antonella Moschillo, Massimo Pasquini, Massimo Biondi, Carlo Di Bonaventura, Fabio Di Fabio\",\"doi\":\"10.1155/2023/8546610\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div>\\n <p><i>Background</i>. The 22q11.2 Deletion Syndrome (22q11.2DS) is a genetic condition at high risk of developing both psychosis and motor disorders. Social Cognition (SC) deficits have been associated not only with schizophrenia but also with Parkinson’s disease (PD). The present study assessed SC deficits in 22q11.2DS and investigated the interaction between motor symptoms and deficits in Facial Emotion Expressions (FEE) recognition and in Theory of Mind (ToM) tasks in people with 22q11.2DS. <i>Methods</i>. We recruited 38 individuals with 22q11.2DS without psychosis (<i>N</i> = 38, DEL) and 18 with 22q11.2DS and psychosis (<i>N</i> = 18, DEL_SCZ). The <i>Positive And Negative Syndrome Scale</i> (PANSS), <i>Ekman’s 60 Faces Test</i> (EK-60F), the <i>Awareness of Social Inference Test</i> (TASIT EmRec), and the <i>Movement Disorder Society-Unified Parkinson’s Disease Rating Scale part III</i> (UPDRS III) were administered. Correlations were sought between UPDRS III and both TASIT EmRec and EK-60F scores. Analyses were conducted separately for each psychopathological subgroup. <i>Results</i>. Higher UPDRS III (<i>p</i> = 0.04) and lower EK-60F (<i>p</i> = 0.025) scores were observed in the DEL_SCZ group. We found inverse correlations between UPDRS III and both TASIT EmRec (<i>r</i> = −0.289, <i>p</i> = 0.031) and EK-60F (<i>r</i> = −0.387, <i>p</i> = 0.006) scores in the whole sample. Correlations were no longer significant in the DEL_SCZ group (UPDRS III-TASIT EmRec <i>p</i> = 0.629; UPDRS III-EK60F <i>p</i> = 0.933) whilst being stronger in the DEL group (TASIT EmRec, <i>r</i> = −0.560, <i>p</i> < 0.001; EK60F, <i>r</i> = −0.542, <i>p</i> < 0.001). Analyses were adjusted for CPZ Eq and IQ. <i>Conclusions</i>. A modulation between FEE recognition deficits and motor symptoms and signs was observed in the 22q11.2DS group, likely affecting patients’ quality of life.</p>\\n </div>\",\"PeriodicalId\":6939,\"journal\":{\"name\":\"Acta Neurologica Scandinavica\",\"volume\":\"2023 1\",\"pages\":\"\"},\"PeriodicalIF\":2.9000,\"publicationDate\":\"2023-03-28\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://onlinelibrary.wiley.com/doi/epdf/10.1155/2023/8546610\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Acta Neurologica Scandinavica\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://onlinelibrary.wiley.com/doi/10.1155/2023/8546610\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"CLINICAL NEUROLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Acta Neurologica Scandinavica","FirstCategoryId":"3","ListUrlMain":"https://onlinelibrary.wiley.com/doi/10.1155/2023/8546610","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
引用次数: 0
摘要
背景。22q11.2缺失综合征(22q11.2 ds)是一种具有发展为精神疾病和运动障碍高风险的遗传病。社会认知缺陷不仅与精神分裂症有关,而且与帕金森病有关。本研究评估了22q11.2DS患者的SC缺陷,并研究了22q11.2DS患者的运动症状与面部情绪表达(FEE)识别和心理理论(ToM)任务缺陷之间的相互作用。方法。我们招募了38名22q11.2DS无精神病患者(N = 38, DEL)和18名22q11.2DS有精神病患者(N = 18, DEL_SCZ)。采用阳性和阴性综合征量表(PANSS)、Ekman’s 60张面孔测验(EK-60F)、社会推理意识测验(TASIT EmRec)和运动障碍学会统一帕金森病评定量表第三部分(UPDRS III)。寻求UPDRS III与TASIT EmRec和EK-60F评分之间的相关性。对每个精神病理亚组分别进行分析。结果。DEL_SCZ组UPDRS III评分较高(p = 0.04), EK-60F评分较低(p = 0.025)。我们发现,在整个样本中,UPDRS III与TASIT EmRec (r = - 0.289, p = 0.031)和EK-60F (r = - 0.387, p = 0.006)得分呈负相关。DEL_SCZ组相关性不再显著(UPDRS III-TASIT EmRec p = 0.629;UPDRS III-EK60F p = 0.933),而DEL组更强(TASIT EmRec, r = - 0.560, p < 0.001;EK60F, r = - 0.542, p < 0.001)。对CPZ Eq和IQ进行调整分析。结论。在22q11.2DS组中观察到FEE识别缺陷与运动症状和体征之间的调节,可能影响患者的生活质量。
The Relationship between Motor Symptoms, Signs, and Parkinsonism with Facial Emotion Recognition Deficits in Individuals with 22q11.2 Deletion Syndrome at High Genetic Risk for Psychosis
Background. The 22q11.2 Deletion Syndrome (22q11.2DS) is a genetic condition at high risk of developing both psychosis and motor disorders. Social Cognition (SC) deficits have been associated not only with schizophrenia but also with Parkinson’s disease (PD). The present study assessed SC deficits in 22q11.2DS and investigated the interaction between motor symptoms and deficits in Facial Emotion Expressions (FEE) recognition and in Theory of Mind (ToM) tasks in people with 22q11.2DS. Methods. We recruited 38 individuals with 22q11.2DS without psychosis (N = 38, DEL) and 18 with 22q11.2DS and psychosis (N = 18, DEL_SCZ). The Positive And Negative Syndrome Scale (PANSS), Ekman’s 60 Faces Test (EK-60F), the Awareness of Social Inference Test (TASIT EmRec), and the Movement Disorder Society-Unified Parkinson’s Disease Rating Scale part III (UPDRS III) were administered. Correlations were sought between UPDRS III and both TASIT EmRec and EK-60F scores. Analyses were conducted separately for each psychopathological subgroup. Results. Higher UPDRS III (p = 0.04) and lower EK-60F (p = 0.025) scores were observed in the DEL_SCZ group. We found inverse correlations between UPDRS III and both TASIT EmRec (r = −0.289, p = 0.031) and EK-60F (r = −0.387, p = 0.006) scores in the whole sample. Correlations were no longer significant in the DEL_SCZ group (UPDRS III-TASIT EmRec p = 0.629; UPDRS III-EK60F p = 0.933) whilst being stronger in the DEL group (TASIT EmRec, r = −0.560, p < 0.001; EK60F, r = −0.542, p < 0.001). Analyses were adjusted for CPZ Eq and IQ. Conclusions. A modulation between FEE recognition deficits and motor symptoms and signs was observed in the 22q11.2DS group, likely affecting patients’ quality of life.
期刊介绍:
Acta Neurologica Scandinavica aims to publish manuscripts of a high scientific quality representing original clinical, diagnostic or experimental work in neuroscience. The journal''s scope is to act as an international forum for the dissemination of information advancing the science or practice of this subject area. Papers in English will be welcomed, especially those which bring new knowledge and observations from the application of therapies or techniques in the combating of a broad spectrum of neurological disease and neurodegenerative disorders. Relevant articles on the basic neurosciences will be published where they extend present understanding of such disorders. Priority will be given to review of topical subjects. Papers requiring rapid publication because of their significance and timeliness will be included as ''Clinical commentaries'' not exceeding two printed pages, as will ''Clinical commentaries'' of sufficient general interest. Debate within the speciality is encouraged in the form of ''Letters to the editor''. All submitted manuscripts falling within the overall scope of the journal will be assessed by suitably qualified referees.