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JOURNAL ARTICLE
Sara Naudhani, Adeel Ahmad, Fariya Khan Bazai, Muhammad Tariq Pervez, Azqa Zafar, Sajjad Ali Shah, Nafeesa Raheem, Abdul Hameed Baloch, Muhammad Mushtaq, Shakeela Daud
INTRODUCTION: In a consanguineous family, seven siblings born in three sibships showed a syndromic disorder characterized by obesity, seizures, and language impairment phenotypes, which appeared at early age or developed during early childhood. METHODS: By whole-exome sequencing and subsequent Sanger sequencing, a novel homozygous missense variant (c.3371 T>A [p.Ile1124Asn]) in exon 20 of the CNTNAP2 gene was identified. RESULTS: The pathogenic variant in this family is located within one of the laminin G-like 4 domains of CASPR2 and may cause loss of hydrophobic interactions of CASPR2 with its partner proteins...
August 2023: Molecular Syndromology
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JOURNAL ARTICLE
Alessandro Mauro Tavone, Giulia Ceccobelli, Giorgia Piizzi, Maria Chiara Clericò, Raimondo Vella, Naomi Romaniello, Gabriele Giuga, Saverio Potenza, Gian Luca Marella
Familicide, an extreme form of domestic violence where one family member kills another, is a complex criminological issue. We analyzed autopsy files from the Institute of Legal Medicine, University of Rome Tor Vergata (1995-2022), to understand familicide better. The study focused on victim profiles, offender characteristics, and case dynamics. From 29 analyzed cases, 31 victims emerged, with 2 instances of double homicide. The perpetrators were mostly male (79.31%) and the victims were primarily female (54...
September 1, 2023: Healthcare (Basel, Switzerland)
#23
JOURNAL ARTICLE
Roberta Passiatore, Linda A Antonucci, Thomas P DeRamus, Leonardo Fazio, Giuseppe Stolfa, Leonardo Sportelli, Gianluca C Kikidis, Giuseppe Blasi, Qiang Chen, Juergen Dukart, Aaron L Goldman, Venkata S Mattay, Teresa Popolizio, Antonio Rampino, Fabio Sambataro, Pierluigi Selvaggi, William Ulrich, Daniel R Weinberger, Alessandro Bertolino, Vince D Calhoun, Giulio Pergola
Alterations in fMRI-based brain functional network connectivity (FNC) are associated with schizophrenia (SCZ) and the genetic risk or subthreshold clinical symptoms preceding the onset of SCZ, which often occurs in early adulthood. Thus, age-sensitive FNC changes may be relevant to SCZ risk-related FNC. We used independent component analysis to estimate FNC from childhood to adulthood in 9,236 individuals. To capture individual brain features more accurately than single-session fMRI, we studied an average of three fMRI scans per individual...
August 8, 2023: Proceedings of the National Academy of Sciences of the United States of America
#24
REVIEW
Anuradhi Jayasinghe, Anna Wrobel, Kate Filia, Linda K Byrne, Glenn Melvin, Sean Murrihy, Carl Moller, Lesley Berk, Michael Berk, Sue Cotton
BACKGROUND: Family members of people with mental illness (MI) may experience a host of psychological adversities such as increased stress, burden, and reduced wellbeing. However, relatively little is known about siblings. This study aimed to characterise the experience of distress (viz. depressive and anxiety symptoms), burden, and wellbeing in siblings of people with MI. METHODS: Studies reporting on quantitative measures of depression, anxiety, burden, or wellbeing in siblings; and/or qualitative findings on siblings' experience were eligible...
July 25, 2023: Psychological Medicine
#25
JOURNAL ARTICLE
Yuxiao Yao, Diego Baronio, Yu-Chia Chen, Congyu Jin, Pertti Panula
Histamine receptors mediate important physiological processes and take part in the pathophysiology of different brain disorders. Histamine receptor 1 (HRH1) is involved in the development of neurotransmitter systems, and its role in neurogenesis has been proposed. Altered HRH1 binding and expression have been detected in the brains of patients with schizophrenia, depression, and autism. Our goal was to assess the role of hrh1 in zebrafish development and neurotransmitter system regulation through the characterization of hrh1-/- fish generated by the CRISPR/Cas9 system...
July 20, 2023: Molecular Neurobiology
#26
JOURNAL ARTICLE
Scott R Sponheim, Joshua J Stim, Stephen A Engel, Victor J Pokorny
INTRODUCTION: Psychosis is in part defined by disturbances in perception. Recent investigations have implicated the speed of alpha oscillations observed in brain electrical activity as reflective of a sampling rate of the visual environment and perception. Although both slowed alpha oscillations and aberrant percept formation are evident in disorders of psychotic psychopathology such as schizophrenia it is unclear whether slow alpha accounts for abnormal visual perception in these disorders...
2023: Frontiers in Psychology
#27
JOURNAL ARTICLE
Tesfa Dejenie Habtewold, Jiasi Hao, Edith J Liemburg, Nalan Baştürk, Richard Bruggeman, Behrooz Z Alizadeh
Heterogeneity is the main challenge in the traditional classification of mental disorders, including schizophrenia spectrum disorders (SSD). This can be partly attributed to the absence of objective diagnostic criteria and the multidimensional nature of symptoms and their associated factors. This article provides an overview of findings from the Genetic Risk and Outcome of Psychosis (GROUP) cohort study on the deep clinical phenotyping of schizophrenia spectrum disorders targeting positive and negative symptoms, cognitive impairments and psychosocial functioning...
June 5, 2023: Journal of Personalized Medicine
#28
JOURNAL ARTICLE
Xudong Chen, Wenjian Tan, Yixin Cheng, Danqing Huang, Dayi Liu, Jiamei Zhang, Jinyue Li, Zhening Liu, Yunzhi Pan, Lena Palaniyappan
Language-related symptoms, such as disorganized, impoverished speech and communicative behaviors, are one of the core features of schizophrenia. These features most strongly correlate with cognitive deficits and polygenic risk among various symptom dimensions of schizophrenia. Nevertheless, unaffected siblings with genetic high-risk fail to show consistent deficits in language network (LN), indicating that either (1) polygenic risk has no notable effect on LN and/or (2) siblings show compensatory changes in opposing direction to patients...
June 18, 2023: Psychiatry Research
#29
JOURNAL ARTICLE
Bogna Batko, Marta Szwajca, Natalia Śmierciak, Wirginia Krzyściak, Aleksander Turek, Maciej Pilecki
OBJECTIVES: Assessment of the association between weight gain in patients with first-episode psychosis (FEP) and biopsychosocial and sociological factors. METHODS: 25 subjects with FEP aged 14-35 examined in week 1 (P1) and after three months of hospitalization (P3) were enrolled in the study. Within 3 months all patients were diagnosed with schizophrenia. The study used: a socio-demographic survey, Positive and Negative Syndrome Scale (PANSS), State-Trait Anxiety Inventory (STAI), Coping Inventory for Stressful Situations (CISS), Questionnaire Eating Behaviors (QEB), and routine biochemical test findings...
February 28, 2023: Psychiatria Polska
#30
JOURNAL ARTICLE
Amy M Jimenez, Peter E Clayson, Arpi S Hasratian, Junghee Lee, Eric A Reavis, Jonathan K Wynn, Michael F Green, William P Horan
BACKGROUND: Individuals with psychosis spectrum disorders (PSD) have difficulty developing social relationships. This difficulty may reflect reduced response to social feedback involving functional alterations in brain regions that support the social motivation system: ventral striatum, orbital frontal cortex, insula, dorsal anterior cingulate cortex, and amygdala. Whether these alterations span PSD is unknown. METHODS: 71 individuals with PSD, 27 unaffected siblings, and 37 control participants completed a team-based fMRI task...
June 13, 2023: Neuropsychologia
#31
JOURNAL ARTICLE
Nancy Murillo-García, Jordi Soler, Victor Ortiz-García de la Foz, Margarita Miguel-Corredera, Sara Barrio-Martinez, Esther Setién-Suero, Sergi Papiol, Mar Fatjó-Vilas, Rosa Ayesa-Arriola
BACKGROUND AND HYPOTHESIS: There is uncertainty about the relationship between the family intelligence quotient (IQ) deviation and the risk for schizophrenia spectrum disorders (SSD). This study tested the hypothesis that IQ is familial in first episode psychosis (FEP) patients and that their degree of familial resemblance is associated with different profiles. STUDY DESIGN: The participants of the PAFIP-FAMILIAS project (129 FEP patients, 143 parents, and 97 siblings) completed the same neuropsychological battery...
June 14, 2023: Schizophrenia Bulletin
#32
JOURNAL ARTICLE
Tesfa Dejenie Habtewold, Natalia Tiles-Sar, Edith J Liemburg, Amrit Kaur Sandhu, Md Atiqul Islam, H Marike Boezen, Richard Bruggeman, Behrooz Z Alizadeh
Positive and negative symptoms are prominent but heterogeneous characteristics of schizophrenia spectrum disorder (SSD). Within the framework of the Genetic Risk and Outcome of Psychosis (GROUP) longitudinal cohort study, we aimed to distinguish and identify the genetic and non-genetics predictors of homogenous subgroups of the long-term course of positive and negative symptoms in SSD patients (n = 1119) and their unaffected siblings (n = 1059) in comparison to controls (n = 586)...
June 9, 2023: Scientific Reports
#33
Sawako Furukawa, Itaru Kushima, Branko Aleksic, Norio Ozaki
BACKGROUND: Copy number variations (CNVs) have been implicated in psychiatric and neurodevelopmental disorders. Especially, 15q13.3 deletions are strongly associated with autism spectrum disorder (ASD), intellectual disability (ID), schizophrenia (SCZ), attention deficithyperactivity disorder (ADHD), and mood disorder. CASE PRESENTATION: We present two siblings with ASD. They had a father with bipolar disorder (BD). Patient 1 is a 21-year-old female with ASD and mild ID, who had language delay and repetitive behavior in childhood, social difficulties, and refused to go to school because of bullying...
June 1, 2023: Neuropsychopharmacology Reports
#34
JOURNAL ARTICLE
Sonia Sibilska, Rola Mofleh, Bernat Kocsis
The primary aim of this research was to study the developmental trajectory of oscillatory synchronization in neural networks of normal healthy rats during adolescence, corresponding to the vulnerable age of schizophrenia prodrome in human. To monitor the development of oscillatory networks through adolescence we used a "pseudo-longitudinal" design. Recordings were performed in terminal experiments under urethane anesthesia, every day from PN32 to PN52 using rats-siblings from the same mother, to reduce individual innate differences between subjects...
2023: Frontiers in Cellular Neuroscience
#35
JOURNAL ARTICLE
Eva Velthorst, Adam Socrates, Behrooz Z Alizadeh, Therese van Amelsvoort, Agna A Bartels-Velthuis, Richard Bruggeman, Wiepke Cahn, Lieuwe de Haan, Frederike Schirmbeck, Claudia J P Simons, Jim van Os, Anne-Kathrin Fett
BACKGROUND: Social cognitive impairment is a recognized feature of psychotic disorders. However, potential age-related differences in social cognitive impairment have rarely been studied. STUDY DESIGN: Data came from 905 individuals with a psychotic disorder, 966 unaffected siblings, and 544 never-psychotic controls aged 18-55 who participated in the Genetic Risk and Outcome of Psychosis (GROUP) study. Multilevel linear models were fitted to study group main effects and the interaction between group and age on emotion perception and processing (EPP; degraded facial affect recognition) and theory of mind (ToM; hinting task) performance...
May 21, 2023: Schizophrenia Bulletin
#36
JOURNAL ARTICLE
Jonathan K Wynn, Peter E Clayson, Michael F Green, Amy Jimenez, Junghee Lee, Eric A Reavis, William P Horan
People with schizophrenia experience difficulties with social interactions. One contributor to these social deficits is dysfunction in processing facial features and facial emotional expressions. However, it is not known whether face processing deficits are evident in those with other psychotic disorders or in those genetically at-risk for psychosis (i.e., first-degree relatives of those with psychosis). We assessed event-related potentials (ERPs) during a facial and emotion processing task in 100 people with a diagnosis of schizophrenia or another psychotic condition (PSY), 32 of their siblings (SIB) and 45 healthy comparison participants (CTL)...
May 9, 2023: European Journal of Neuroscience
#37
JOURNAL ARTICLE
Luis Fs Castro-de-Araujo, Jacyra Azevedo Paiva de Araujo, Érika Fialho Morais Xavier, Richard A A Kanaan
Brain structural changes are known to be associated with psychotic symptoms, with worse symptoms consistently associated with brain volume loss in some areas. It is not clear whether volume and symptoms interfere with each other over the course of psychosis. In this paper, we analyse the temporal relationships between psychosis symptom severity and total gray matter volume. We applied a cross-lagged panel model to a public dataset from the NUSDAST cohorts. The subjects were assessed at three-time points: baseline, 24 months, and 48 months...
May 3, 2023: Journal of Psychiatric Research
#38
JOURNAL ARTICLE
Feifei Xu, Zhenping Xian
INTRODUCTION: Schizophrenia (SCZ) is characterized by widespread cognitive impairments, such as executive functions. Most of the available research indicate that executive impairment has a certain genetic predisposition. Shared neuropathological characteristics of patients with SCZ and their siblings may reveal intermediate behavioral phenotypes that can be used to further characterize the illness. METHODS: Our study involved 32 SCZ patients, 32 unaffected siblings (US), and 33 persons as healthy controls (HCS)...
2023: PloS One
#39
Peter B Barr, Tim B Bigdeli, Jacquelyn L Meyers, Roseann E Peterson, Sandra Sanchez-Roige, Travis T Mallard, Danielle M Dick, K Paige Harden, Anna Wilkinson, David P Graham, David A Nielsen, Alan Swann, Rachele K Lipsky, Thomas Kosten, Mihaela Aslan, Philip D Harvey, Nathan A Kimbrel, Jean C Beckham
Many psychiatric outcomes are thought to share a common etiological pathway reflecting behavioral disinhibition, generally referred to as externalizing disorders (EXT). Recent genome-wide association studies (GWAS) have demonstrated the importance of EXT for aspects of veterans' health, such as suicide-related behaviors, substance use disorders, and other medical conditions. To better understand how genetic risk for EXT is related to veterans' health, we conducted a series of phenome-wide association studies (PheWAS) of polygenic scores (PGS) for EXT, and comorbid psychopathology (depression, schizophrenia, suicide attempt) in an ancestrally diverse cohort of U...
March 27, 2023: medRxiv
#40
JOURNAL ARTICLE
Laura Fusar-Poli, Thanavadee Prachason, Gamze Erzin, Lotta-Katrin Pries, Natascia Brondino, Pierluigi Politi, Philippe Delespaul, Gunter Kenis, Jurjen J Luykx, Bochao D Lin, Alexander L Richards, Berna Akdede, Tolga Binbay, Vesile Altınyazar, Berna Yalınçetin, Güvem Gümüş-Akay, Burçin Cihan, Haldun Soygür, Halis Ulaş, Eylem Şahin Cankurtaran, Semra Ulusoy Kaymak, Marina M Mihaljevic, Sanja Andric-Petrovic, Tijana Mirjanic, Miguel Bernardo, Gisela Mezquida, Silvia Amoretti, Julio Bobes, Pilar A Saiz, Maria Paz García-Portilla, Julio Sanjuan, Maria Jose Escarti, José Luis Santos, Estela Jiménez-López, Manuel Arrojo, Angel Carracedo, Gonzalo López, Javier González-Peñas, Mara Parellada, Nadja P Maric, Cem Atbaşoğlu, Alp Üçok, Köksal Alptekin, Meram Can Saka, Celso Arango, Michael O'Donovan, Jim van Os, Bart Pf Rutten, Sinan Guloksuz
BACKGROUND: People with schizophrenia spectrum disorders (SSD) frequently present cognitive impairments. Here, we investigated whether the exposome score for schizophrenia (ES-SCZ) - a cumulative environmental exposure score - was associated with impairments of neurocognition, social cognition, and perception in patients with SSD, their unaffected siblings, and healthy controls. METHODS: This cross-sectional sample consisted of 1200 patients, 1371 siblings, and 1564 healthy controls...
March 28, 2023: Psychiatry Research
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