Clinical Neuropsychiatry最新文献

{"title":"The Hidden Impact of Covid-19 on Memory: Disclosing Subjective Complaints.","authors":"Graziella Orrù, Angelo Gemignani, Enrico Cipriani, Mario Miccoli, Rebecca Ciacchini, Cristiana Cancemi, Danilo Menicucci, Carmen Berrocal Montiel, Andrea Piarulli, Ciro Conversano","doi":"10.36131/cnfioritieditore20230604","DOIUrl":"10.36131/cnfioritieditore20230604","url":null,"abstract":"<p><strong>Objective: </strong>A significant body of research has suggested that the contraction of SARS-CoV-2 may cause memory impairment, even in the months following recovery. In this regard, studies suggest that COVID-19 predominantly targets structures and cortices within the temporal lobe, and the hippocampus, a critical brain structure for memory and spatial navigation.The purpose of this study was to investigate the potential impact of the COVID-19 pandemic on subjective memory complaints, which represent an individual's perception of subtle changes in memory in the absence of an objective memory impairment.</p><p><strong>Method: </strong>to explore how the COVID-19 pandemic may affect subjective memory complaints, we incorporated ad hoc self-reported measures of subjective memory complaints, the \"Subjective Memory Complaints Questionnaire\" (SMCQ) and the \"Prospective and Retrospective Memory Questionnaire\" (PRMQ), in our cross-sectional study. Both measures referred to two periods: the pre-pandemic period (T0) and the moment of survey administration (T1) (December 28th, 2021, to February 6th, 2022).</p><p><strong>Results: </strong>207 Italian participants accessed the survey, out of which 189 participants were included in the final sample. The majority of the participants were females, and their age ranged from 55 to 65 years. The study revealed a significant increase in the total PRMQ score at T1 compared to T0 (p = 0.02). However, no significant differences were found between PRMQ and SMCQ scores of COVID-19-negative individuals and those who tested positive for COVID-19 in the last 12 months from the date of completing the survey. McNemar's test showed a statistically significant increase in the score of item 1 (\"Do you think that you have a memory problem?\" (p = 0.016) and item 10 (\"Do you lose objects more often than you did previously\") (0.019) of the SMCQ, while for the PRMQ, significant increases were found in several individual items.</p><p><strong>Conclusions: </strong>our study suggests that subjective memory complaints increased during the pandemic, potentially due to the compound effects of stress and social isolation, rather than solely due to COVID-19 infection. Although a marginal association between COVID-19 and reported prospective memory issues was detected, further investigation is warranted to understand its persistent effects.</p>","PeriodicalId":46700,"journal":{"name":"Clinical Neuropsychiatry","volume":"20 6","pages":"495-504"},"PeriodicalIF":2.0,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10852411/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139724497","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Illness Trajectory in Marilyn Monroe's Psychological Autopsy: From Autism Spectrum Disorder to Borderline Personality Disorder and Bipolar Disorder with Catatonia.","authors":"Liliana Dell'Osso, Barbara Carpita, Riccardo Dalle Luche, Primo Lorenzi, Giulia Amatori","doi":"10.36131/cnfioritieditore20230605","DOIUrl":"https://doi.org/10.36131/cnfioritieditore20230605","url":null,"abstract":"<p><strong>Objective: </strong>A mounting body of literature is showing that, in the clinical and general population, autism spectrum disorder (ASD) or autistic traits (ATs) would appear to be spread along a continuum, reaching the highest levels among individuals affected by other mental disorders, such as borderline personality disorder (BPD) and bipolar disorder (BD). Furthermore, individuals with ASD or ATs appear to be more vulnerable to psychological traumas, with greater likelihood of developing post-traumatic stress disorder (PTSD) and BD. Marilyn Monroe was a famous actress, singer and model, as well as one of the most admired stars of American cinema and a timeless icon. The present report debates the possibility to explore Marilyn Monroe's case under a neurodevelopmental perspective according to which a ASD favored, on one hand, her worldwide success and, on the other, her mental illness trajectory.</p><p><strong>Method: </strong>The analysis is based on the review of her four biographies written by psychiatrists and clinical psychologists, her complete filmography, interviews, filmed material and personal scripts.</p><p><strong>Results: </strong>The present work reconstructed a hypothetical illness trajectory originating from a ASD and culminating in a BD with unspecified catatonia, followed by premature death whose cause has never been clarified. The description of this illness trajectory also confirms the strong impact of psychological traumas on the substrate of ASD vulnerability and its correlation with the development of BPD and BD.</p><p><strong>Conclusions: </strong>This paper suggests Marilyn Monroe as a possible prototypical case of BPD under a neurodevelopmental perspective that accounts the ASD, as reported in DSM-5-TR (2022), in verbal adult without intellectual impairment, high-functioning autism (HFA), as vulnerability background predisposing to the progression to BPD and BD with unspecified catatonia, triggered by multiple traumas.</p>","PeriodicalId":46700,"journal":{"name":"Clinical Neuropsychiatry","volume":"20 6","pages":"505-510"},"PeriodicalIF":6.1,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10852408/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139724498","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Article Highlights.","authors":"Federico Mucci","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":46700,"journal":{"name":"Clinical Neuropsychiatry","volume":"20 5","pages":"391-393"},"PeriodicalIF":6.1,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10712294/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138812342","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Measuring Adaptive Behavior in Patients with Mendelian Neurodevelopmental Disorders. Comparison of ABAS-3 and Dutch Vineland Scales.","authors":"Joost Kummeling, Karlijn Vermeulen-Kalk, Veerle Souverein, Linde C M van Dongen, Wouter Oomens, Joost G E Janzing, Monica Pop-Purceleanu, Tjitske Kleefstra, Jos I M Egger","doi":"10.36131/cnfioritieditore20230507","DOIUrl":"https://doi.org/10.36131/cnfioritieditore20230507","url":null,"abstract":"<p><strong>Objective: </strong>Several instruments are available for measuring (aspects of) adaptive functioning, but knowledge is lacking about which is best to use to monitor patients with etiologically homogeneous neurodevelopmental disorders. In this study we compare the use of the Vineland-Z and ABAS-3 adaptive behavior scales in such a specific group.</p><p><strong>Method: </strong>Of patients with a molecularly confirmed diagnosis of Kleefstra syndrome, 34 were assessed with both the Vineland-Z and ABAS-3 of which 12 (35,3%) males and 22 (64,7%) females. Raw scores and developmental ages were calculated and a comparison between the instruments was done via correlation analysis.</p><p><strong>Results: </strong>Biological age ranged from 12 to 50 years old (median age of 23,1 ± 9,6 years). Pearson r correlation analyses show that the Vineland-Z and ABAS-3 assessments are highly interchangeable in this population. However, there are practical issues which require attention: (i) the use of ABAS-3 needs several versions to cover the whole adaptive spectrum, and (ii) the Vineland-Z discriminates more at the lower end of the adaptive functioning spectrum compared to the ABAS-3, but less at the higher end. An ideal instrument for this specific purpose is not yet available.</p><p><strong>Conclusions: </strong>We recommend that either the Vineland-Z, with modification of the dated items, the abridged version of the Vineland III, or a merge of the 0-4/517 ABAS-3 versions would work best to assess the entire spectrum of adaptive functioning adequately.</p>","PeriodicalId":46700,"journal":{"name":"Clinical Neuropsychiatry","volume":"20 5","pages":"453-461"},"PeriodicalIF":6.1,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10712295/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138812347","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Patients with Chronic Pain: Are Mindfulness Traits Protective Against Distress, Anxiety and Depression?","authors":"Mario Miniati, Graziella Orrù, Mery Paroli, Maristella Cinque, Adriana Paolicchi, Angelo Gemignani, Giulio Perugi, Rebecca Ciacchini, Donatella Marazziti, Laura Palagini, Ciro Conversano","doi":"10.36131/cnfioritieditore20230505","DOIUrl":"https://doi.org/10.36131/cnfioritieditore20230505","url":null,"abstract":"<p><strong>Objective: </strong>To investigate mindfulness traits/attitudes as protective factors against chronic pain related distress, depression and anxiety.</p><p><strong>Method: </strong>Fifty patients (25 with chronic non-oncologic pain-NOP; 25 with chronic oncologic pain-COP) were administered with the following scales: Visual Analogue Scale (VAS), Pain Disability Index (PDI), Italian Questionnaire for Pain (QUID), Perceived Stress Scale (PSS), State and Trait Anxiety Scale (STAY-y1 module), Beck Depression Inventory II (BDI-II), Pittsburgh Sleep Quality Index (PSQI), Psychological General Well Being Index (PGWBI), Mindful Attention Awareness Scale (MAAS).</p><p><strong>Results: </strong>MAAS value ≥ 4.38 was adopted as cut-off to compare '<i>high level of mindfulness</i>' (HM) vs. '<i>normal level of mindfulness</i>' (NM) attitudes. Twenty-six patients (52%) scored ≥4.38, with no different distribution between NOP and COP. HM patients scored significantly lower than NM patients on PDI <i>'family/home responsibilities'</i> domain (4.5±3.2 vs. 6.4±2.8; p<.037), and on PSS (17.8±2.6 vs. 20.9±2.5; p<.0001), STAY-y1 (9.4±1.8 vs. 10.3±2.1; p<.0001), BDI-II (7.8±5.0 vs. 17.6±8.6; p<.0001) total scores. HM scored significantly higher than NM patients in all PGWBI domains. A multiple regression analysis was carried out to analyze the predictor variables of PGWB. The most complete model considered the variables MAAS, STAIy and VAS (F=42.21; p<.0001), that accounted for the 71.6% of PGWB variance. MAAS score was the only variable positively predicting for PGWB; STAIy and VAS scores predicted negatively.</p><p><strong>Conclusions: </strong>Chronic pain patients with high levels of mindfulness attitudes experienced less distress, anxiety, depressive symptoms, and more physical and general wellbeing than patients with low levels of mindfulness attitudes.</p>","PeriodicalId":46700,"journal":{"name":"Clinical Neuropsychiatry","volume":"20 5","pages":"429-441"},"PeriodicalIF":6.1,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10712298/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138812349","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Workplace Ethical Climate and Workers' Burnout: A Systematic Review.","authors":"Ivan Borrelli, Maria Francesca Rossi, Giuseppe Melcore, Antogiulio Perrotta, Paolo Emilio Santoro, Maria Rosaria Gualano, Umberto Moscato","doi":"10.36131/cnfioritieditore20230502","DOIUrl":"https://doi.org/10.36131/cnfioritieditore20230502","url":null,"abstract":"<p><strong>Objective: </strong>Workplace ethics is a central theme in occupational health; an ethical climate aims to implement and uphold standards of integrity and fairness. Furthermore, the correlation between ethical climate and burnout has been highlighted in several studies, and the impact of a negative ethical climate in the workplace has been reported to affect workers' mental health and job performances, resulting in increased burnout incidence. The aim of this systematic review is to assess the relationship between ethical climate and burnout in the workplace.</p><p><strong>Method: </strong>This review was conducted following the PRISMA statements. Three databases were screened, including research articles written in the English language during the last 10 years, investigating the relationship between burnout and ethics in the workplace. The quality of articles was assessed with the Newcastle-Ottawa Scale.</p><p><strong>Results: </strong>1153 records were found across three databases; after duplicate removal and screening for title and abstract, 46 manuscripts were screened by full text, resulting in 13 included studies. The majority of the included studies were performed on healthcare workers (n=7, 53.8%), and with a majority of female participants (n=9, 69.2%). Most of the included studies (n=9, 69.2%) evaluated the correlation between ethical climate and burnout, while the other four (n=4, 30.8%) evaluated ethical leadership. Four studies reported a positive correlation between ethics and work engagement. Two studies highlighted that an ethical workplace climate reduced turnover intention.</p><p><strong>Conclusions: </strong>Ethical climate plays an important role in burnout mitigation in workers and in improving work engagement, thus helping to reduce turnover intentions. Since all of these variables have been reported to be present in clusters of workers, these aforementioned factors could impact entire workplace organizations and their improvement could lead to a better work environment overall, in addition to improving the single factors considered. Further studies are needed to investigate the role of ethical climate in the workplace.</p>","PeriodicalId":46700,"journal":{"name":"Clinical Neuropsychiatry","volume":"20 5","pages":"405-414"},"PeriodicalIF":6.1,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10712296/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138812368","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Alexithymia and Loneliness in Women with Endometriosis. Testing the Factorial Structure of the Italian Endometriosis Health Profile (EHP-30) and a Mediation Model.","authors":"Francesca Gioia, Anna Parola, Valentina Boursier","doi":"10.36131/cnfioritieditore20230506","DOIUrl":"https://doi.org/10.36131/cnfioritieditore20230506","url":null,"abstract":"<p><strong>Objective: </strong>Endometriosis is a pathological condition characterized by endometrial-like tissue outside the uterus, chronic inflammatory reaction, and pelvic pain that dramatically decrease women's health-related quality of life (HRQoL). Furthermore, this invisible and difficultly diagnosable disease might lead women to experience alexithymia, loneliness, and consequent impairment of perceived quality of life. Firstly, the present study aimed at validating the Italian EHP-30 version which is the most used specific questionnaire for HRQoL measurement. Secondly, the present study aimed at exploring the still understudied relationship between alexithymia and HRQoL in endometriosis conditions, evaluating the mediating role of perceived loneliness.</p><p><strong>Method: </strong>A total of 435 women with endometriosis (mean age=35.75 years) have been involved. All items were loaded on their own factors.</p><p><strong>Results: </strong>The measure showed good internal consistency (Cronbach's α ranged between 0.60-0.95 for core and 0.74-0.94 for modular parts). The Italian EHP-30 is a psychometrically valid measure of HRQoL with endometriosis. The tested mediation model provided adequate goodness-of-fit indices (χ2 (51) = 206.071; p < 0.001; RMSEA = 0.084; 90%CI: 0.072, 0.096, CFI = .933, SRMR= 0.058), showing that alexithymia only indirectly affected women's perceived HRQoL, via the mediating effect of feelings of loneliness.</p><p><strong>Conclusions: </strong>The current study highlighted the pivotal role of perceived loneliness in directly affecting women's quality of life and mediating the effect of the alexithymic experiences.</p>","PeriodicalId":46700,"journal":{"name":"Clinical Neuropsychiatry","volume":"20 5","pages":"442-452"},"PeriodicalIF":6.1,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10723149/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138812338","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Self-Regulation and Rumination as a Transdiagnostic Factors for Internalizing and Externalizing Disorders Among Adolescents.","authors":"Sanja Jandrić, Vlatka Kovač, Damir Kovač, Dunja Degmecic","doi":"10.36131/cnfioritieditore20230503","DOIUrl":"https://doi.org/10.36131/cnfioritieditore20230503","url":null,"abstract":"<p><strong>Objective: </strong>Internalizing and externalizing disorders are developmentally complex entities with multifactorial pathogenesis. The findings from recent research on the transdiagnostic responsibility of self-regulation and rumination suggest that their deficits underlie all psychiatric disorders in adults, and yet only a small number of studies have been conducted on the population of adolescents.</p><p><strong>Method: </strong>The clinical study included 162 adolescents, divided into two clinical groups, treated in the Department of Child and Adolescent Psychiatry in Hospital. The first clinical group consisted of 91 adolescents with internalizing mental disorders, with the second clinical group consisting of 71 adolescents with externalizing mental disorders. They had been referred for psychodiagnostic assessment after their first psychiatric examination, and were diagnosed according to the International Classification of Diseases (ICD-)10 criteria, the diagnoses confirmed through structured clinical interviews. They additionally met the inclusion and exclusion criteria for participating in this study.</p><p><strong>Results: </strong>The results suggest that self-regulation significantly and negatively predicted symptoms of mental disorder in both clinical groups, and rumination significantly predicted symptoms of anxiety and depression in the group of adolescents suffering from internalizing disorders.</p><p><strong>Conclusions: </strong>The findings emphasize the importance of maladaptive self-regulation as a transdiagnostic factor underlying various forms of psychopathology in adolescents, and the importance of rumination as a unique transdiagnostic process related to different disorders in the internalizing dimension.</p>","PeriodicalId":46700,"journal":{"name":"Clinical Neuropsychiatry","volume":"20 5","pages":"415-423"},"PeriodicalIF":6.1,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10712297/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138812355","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Anxiety, Depression, Emotion Regulation, and Daytime Sleepiness: Are There Links Between These Factors? Network Analysis on an Italian Sample During the Covid-19 Pandemic.","authors":"Alberto Sardella, Giorgia Varallo, Mirian Agus, Vittorio Lenzo, Andrea Zagaria, Grazia Terrone, Alessandro Musetti, Gianluca Castelnuovo, Maria C Quattropani, Christian Franceschini","doi":"10.36131/cnfioritieditore20230501","DOIUrl":"https://doi.org/10.36131/cnfioritieditore20230501","url":null,"abstract":"<p><strong>Objective: </strong>The COVID-19 pandemic has contributed to the occurrence of psychological disturbances, such as depressive and anxiety symptomatology, thereby significantly impacting individuals' lifestyles by disrupting sleep patterns. This study aimed to elucidate the interconnections between emotion regulation, depression, anxiety, and daytime sleepiness.</p><p><strong>Method: </strong>We recruited 632 community adults who underwent an online survey of self-report questionnaires, including the Depression Anxiety Stress Scale (DASS-21), the Difficulties in Emotion Regulation Scale (DERS), and the Epworth Sleepiness Scale (ESS).A network analysis was performed to examine and visually represent the pattern of relationships between psychological distress, emotion regulation, and daytime sleepiness.</p><p><strong>Results: </strong>The DERS Strategy dimension showed high values across all centrality indices, indicating it as the most influential node in the network. In addition, the DASS Depression and DERS Goals dimensions exhibited high betweenness values, emerging as points of connection between the other nodes within the network structure.</p><p><strong>Conclusions: </strong>Our primary findings underscore the connection between psychological distress and emotion regulation, specifically between depressive symptoms, a lack of emotional clarity, and difficulty in the flexible use of emotional strategies. These specific constructs hold promising potential as valuable targets for both assessment and the development of effective interventions during highly challenging situations such as the COVID-19 pandemic.</p>","PeriodicalId":46700,"journal":{"name":"Clinical Neuropsychiatry","volume":"20 5","pages":"395-404"},"PeriodicalIF":6.1,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10712299/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138812340","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Novel Distal 22Q11.21 Microduplication in a 43-Year-Old Male Patient with Mild Intellectual Disability, Social Cognitive Dysfunctions, and Anxiety.","authors":"Jos Egger, Willem Verhoeven, Wim Verbeeck, Margje Sinnema, Alexander Stegmann, Karijn Stuurop, Nicole De Leeuw","doi":"10.36131/cnfioritieditore20230504","DOIUrl":"https://doi.org/10.36131/cnfioritieditore20230504","url":null,"abstract":"<p><strong>Objective: </strong>The chromosome region 22q11.2 is highly susceptible to genomic rearrangements. It has become clear that genomic instability extends distally to the commonly deleted/duplicated region (Low Copy Repeats [LCR] A-D) and that a clear difference exists between the phenotypic presentation of patients with rearrangements in the common region versus that in the distal region (LCR D-H), particularly with respect to developmental and somatic issues. Microdeletions in the 22q11.2 distal region are typically associated with congenital heart defects whereas distal 22q11.2 microduplications are infrequently described and present with a smaller duplicated region and a rather unspecified phenotype.</p><p><strong>Method: </strong>The present paper provides detailed assessments of a middle-aged male with mild intellectual disability, elsewhere diagnosed with autism spectrum disorder. Because of persisting functional complaints, he was referred for second opinion to a specialized outpatient department.</p><p><strong>Results: </strong>High resolution SNP-based array analysis demonstrated a ~1.5 Mb distal microduplication in chromosome 22 flanked by LCR region 22C and LCR22E encompassing among others the disease gene MAPK1. No remarkable facial dysmorphisms were noticed. Autism spectrum disorder was ruled out and it was concluded that the patient was primarily suffering from mild intellectual disability and social cognitive dysfunctions with anxieties and suspicious social interactions, to be understood as a disorder within the anxiety spectrum.</p><p><strong>Conclusions: </strong>The pattern of psychological and psychiatric phenomena was discussed against the background of findings on psychopathology in the chromosome 22 region demarcated by LCR breakpoints C and E. It was suggested that alterations in the MAPK1 gene due to either a deletion or a duplication enhance the vulnerability to develop a psychiatric disorder within the anxiety spectrum.</p>","PeriodicalId":46700,"journal":{"name":"Clinical Neuropsychiatry","volume":"20 5","pages":"424-428"},"PeriodicalIF":6.1,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10712293/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138812319","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}