Journal articles on the topic 'Schizophrenia – Genetic aspects'
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Morozova, A. Yu, E. A. Zubkov, Ya A. Zorkina, A. M. Reznik, G. P. Kostyuk, and V. P. Chekhonin. "Genetic aspects of schizophrenia." Zhurnal nevrologii i psikhiatrii im. S.S. Korsakova 117, no. 6 (2017): 126. http://dx.doi.org/10.17116/jnevro201711761126-132.
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Karayiorgou, Maria. "Genetic aspects of schizophrenia." Clinical Neuroscience Research 1, no. 1-2 (January 2001): 158–63. http://dx.doi.org/10.1016/s1566-2772(00)00015-3.
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Böök, Jan A. "Genetic aspects of schizophrenia." Clinical Genetics 19, no. 5 (April 23, 2008): 357. http://dx.doi.org/10.1111/j.1399-0004.1981.tb00726.x.
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Bellivier, F. "Schizophrenia, antipsychotics and diabetes: Genetic aspects." European Psychiatry 20, S4 (December 2005): S335—S339. http://dx.doi.org/10.1016/s0924-9338(05)80187-7.
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AbstractThe relatively high comorbidity of type 2 diabetes and schizophrenia may suggest a shared biological susceptibility to these twoconditions. Family studies have demonstrated an increased risk of diabetes in unaffected relatives of patients with schizophrenia, consistent with a heritable susceptibility trait. Linkage analyses have identified several loci that are associated with schizophrenia and some of these, notably those on chromosomes 2p22.1-p13.2 and 6g21-824.1 have also been observed in linkage studies in type 2 diabetes. In addition, the dopamine D5 receptor on chromosome 5 and the tyrosine hydroxylase gene on chromosome 11 have both been suggested as candidate genes in schizophrenia and may also be implicated in susceptibility to poor glycaemic control. In addition, an increased rate of type II diabetes has been observed in some patients treated with antipsychotics. Potential neurochemical substrates of this effect include the histamine H1 receptor, the 5-HT2C serotonin receptor or the β3 adrenoreceptor. However, the search for a genetic basis to the association between diabetes and schizophrenia is still in its infancy, and much further work needs to be performed, including the systematic screening of all confirmed susceptibility loci and quantitative trait locus mapping of glycaemic control.
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Muir, Walter J. "Genetic aspects of the biology of schizophrenia." Current Opinion in Psychiatry 5, no. 1 (February 1992): 2–5. http://dx.doi.org/10.1097/00001504-199202000-00002.
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Trifu, Simona Corina, Anca Vlăduţi, and Antonia Ioana Trifu. "Genetic aspects in schizophrenia. Receptoral theories. Metabolic theories." Romanian Journal of Morphology and Embryology 61, no. 1 (2020): 25–32. http://dx.doi.org/10.47162/rjme.61.1.03.
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Kambarova, D. K., and A. G. Golubev. "Biochemical and genetic aspects of pathogenesis of schizophrenia." Journal of Evolutionary Biochemistry and Physiology 47, no. 5 (October 2011): 407–19. http://dx.doi.org/10.1134/s0022093011050021.
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Galderisi, S., and M. Maj. "Deficit schizophrenia: An overview of clinical, biological and treatment aspects." European Psychiatry 24, no. 8 (December 2009): 493–500. http://dx.doi.org/10.1016/j.eurpsy.2009.03.001.
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AbstractThe concept of deficit schizophrenia is regarded as one of the most promising attempts to reduce heterogeneity within schizophrenia. This paper summarizes the clinical, neurocognitive, brain imaging and electrophysiological correlates of this subtype of schizophrenia. Attempts to identify genetic and non-genetic risk factors are reviewed. Methodological limitations of studies supporting the efficacy of atypical antipsychotics in the treatment of the syndrome are highlighted. Two decades of research on deficit schizophrenia have failed to prove that it represents the extreme end of a severity continuum in schizophrenia, while some findings support the claim that it may be a separate disease entity.
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Popov, Nikolay T., Vili K. Stoyanova, Nadezhda P. Madzhirova, and Tihomir I. Vachev. "Epigenetic aspects in schizophrenia etiology and pathogenesis." Folia Medica 54, no. 2 (October 1, 2012): 12–16. http://dx.doi.org/10.2478/v10153-011-0082-x.
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ABSTRACT Epidemiological evidence suggests that etiology of schizophrenia may involve both the influence of genetic factors specific for the individual and the impact of the environment. It is quite likely that a crucial role in the disease development is played by molecular mechanisms mediating the interaction between genes and environment. Modern research have shown that epigenetic mechanisms or chemical modifications of deoxyribonucleic acids (DNA) and histone proteins remain unstable throughout life and can be changed by environmental factors. Thus the epigenetic mechanisms outline an attractive molecular hypothesis of the environment modelling role and the environmental contribution to schizophrenia progression. We give in the present study a general outline of schizophrenia as a pathological entity and discuss the role and involvement of environment versus genetic determinant (nature versus nurture) in the pathophysiolgical processes. Additionally, we focus on DNA methylation discussing the evidence for the role of that process in schizophrenia. Thirdly, we review the post-translational histone modifications and their role in schizophrenia. These investigations might surely lead further to the development of epigenetic therapy that looks promising in regard to symptom alleviation and the disease-associated cognitive deficit.
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Syvälahti, E. K. G. "Biological Factors in Schizophrenia Structural and Functional Aspects." British Journal of Psychiatry 164, S23 (April 1994): 9–14. http://dx.doi.org/10.1192/s0007125000292672.
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A number of factors have been proposed as being linked to schizophrenia: genetic, psychological, endocrinological, metabolic, environmental, virological, and auto-immunological factors, as well as neurotransmitter systems and structural disorders of the brain. All may act as predisposing, triggering, or functionally modulating factors in what is probably a condition composed of several types of disorder with varying aetiology. Neuroanatomical and neuromorphological data have revealed ventricular enlargement and diminished frontal and temporal lobe volume in some patients. These changes are concentrated particularly in the hippocampus/parahippocampal gyrus/amygdala, but are relatively small and span some overlap with healthy subjects. Twin studies suggest that at least some of these changes may result from other than genetic factors. Functional disturbances of the brain have also been connected with frontal and temporal structures in some schizophrenic patients. Of the single neurotransmitter substances, dopamine and serotonin appear to represent some of the central restitutive mechanisms whose function is to maintain mental stability; the understanding of their interplay with other neurotransmitters such as noradrenaline, acetylcholine, GABA, and glutamate, should provide a more integrated view of both normal and disturbed brain function.
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Roksana, Zakharyan. "Transcription Factors in Schizophrenia: A Current View of Genetic Aspects." Scientific Journal of Genetics and Gene Therapy 2, no. 1 (December 30, 2016): 017–21. http://dx.doi.org/10.17352/sjggt.000010.
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Alda, Martin, Marta Dvořáková, Petr Zvolský, Hana Papežová, and Marie Pošmurová. "Genetic aspects in chronic schizophrenia morbidity risks and contributory factors." Schizophrenia Research 2, no. 4-5 (July 1989): 339–44. http://dx.doi.org/10.1016/0920-9964(89)90025-x.
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Zhilyaeva, T. V., A. V. Sergeeva, A. S. Blagonravova, G. E. Mazo, and A. O. Kibitov. "One-Carbon Metabolism Disorders in Schizophrenia: Genetic and Therapeutic Aspects." Neurochemical Journal 13, no. 2 (April 2019): 113–20. http://dx.doi.org/10.1134/s1819712419020156.
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Davies, Eric J. "Developmental aspects of schizophrenia and related disorders: possible implications for treatment strategies." Advances in Psychiatric Treatment 13, no. 5 (September 2007): 384–91. http://dx.doi.org/10.1192/apt.bp.106.002600.
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Schizophrenia and other schizophrenia-spectrum disorders are neurodevelopmental disorders which may share genetic susceptibility factors and represent differential expressions of an underlying vulnerability. Schizophrenia may have its onset in childhood and can be reliably diagnosed. However, developmental factors modulate disease expression in children. Although the prevalence of schizophrenia in childhood is low, children who develop schizophrenia in adult life may show subtle and non-specific developmental abnormalities, consistent with the neurodevelopmental hypothesis. Studies of the schizophrenia prodrome also demonstrate that abnormalities may be apparent years before the onset of positive symptoms. Such evidence raises the possibility of using preventive approaches in the treatment of schizophrenia. Further advances in our knowledge of the aetiopathology of schizophrenia (and the identification of endophenotypes within the group of schizophrenia and related disorders) may further improve our ability to predict disease development, making implementation of preventive interventions more achievable.
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Malmberg, A., G. Lewis, A. David, and P. Allebeck. "Premorbid adjustment and personality in people with schizophrenia†." British Journal of Psychiatry 172, no. 4 (April 1998): 308–13. http://dx.doi.org/10.1192/bjp.172.4.308.
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BackgroundSchizoid personality and poor social adjustment have been thought of as common antecedents of schizophrenia but the existing literature is inconclusive. We have carried out a large cohort study with improved methodology.MethodThe premorbid personality and adjustment of 50 054 Swedish men were assessed on entry into the army at the age of 18. Individuals who developed schizophrenia or another psychosis after 15-year follow-up were identified. Odds ratios for variables independently associated with the later development of schizophrenia were calculated, adjusting for potential confounders.ResultsFour variables reflecting early problems with interpersonal relationships were strongly associated with later schizophrenia and, to a lesser extent, non-schizophrenic psychoses, but also occurred commonly in the cohort as a whole. These associations with schizophrenia persisted after early-onset cases were excluded, though their predictive value was low (3.0%, 95% CI 1.5–4.5).ConclusionsSome aspects of premorbid personality and adjustment may act as risk factors for schizophrenia. The results appear to be most consistent with a multi-factorial aetiology for schizophrenia and offer tentative support for a psychological disturbance mediating genetic and environmental effects on the causal pathway to the illness.
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Tosato, Sarah, and Antonio Lasalvia. "The contribution of epidemiology to defining the most appropriate approach to genetic research on schizophrenia." Epidemiologia e Psichiatria Sociale 18, no. 2 (June 2009): 81–90. http://dx.doi.org/10.1017/s1121189x00000932.
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AbstractPsychosis is thought to have a strong genetic component, but many efforts to discover the underlying putative schizophrenia genes have yielded disappointing results. In fact, no strong associations emerged in the first genome-wide association studies in psychiatry and weakly observed associations were not related to the candidate genes identified in previous studies. These partially successful findings may be explained by the fact that genetic research in psychiatry suffers from confounding issues related to phenotype definition, the considerable degree of phenotypic variability and diagnostic uncertainty, absence of specific neuropathological features and environmental influences. To make progress it is first necessary to deconstruct psychosis based on symptomatology, and then to correlate particular phenotypes with genetic variants. Moreover, it is time to conduct studies that define persistent aspects of the schizophrenic profile that are more likely to represent an underlying biological pathogenesis, as opposed to fluctuating symptoms that are possibly environmentally mediated. In fact, progress in understanding the etiology of schizophrenia will depend upon the availability of good measures of genetic liability as well as relevant environmental exposures during critical periods of an individual's life. If environmental and/or genetic factors are not precisely measured, it is impossible to study their independent effects or interactions.
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Weller, M. P. I. "Medical Concepts in Psychopathy and Violence." Medicine, Science and the Law 26, no. 2 (April 1986): 131–43. http://dx.doi.org/10.1177/002580248602600208.
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It is widely assumed that psychopathic behaviour arises from unsatisfactory parenting, but upbringing difficulties are equally apparent in other psychiatric disorders. The poor response to psychological treatments is noteworthy and organic features, of a specific type, have been implicated. The most recent evidence strongly supports earlier findings of a genetic factor. Damage or malfunction of the left temporal lobe of the brain, or of the frontal area, are associated with violent psychopathic behaviour. Dysfunction in these same areas has also been found in schizophrenic patients and there is a genetic relationship between psychopathy and schizophrenia. It is concluded that organic factors probably underpin some psychopathic behaviour, a situation which may affect our attitudes.
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Weiss, Norbert, and Gerald W. Zamponi. "Genetic T-type calcium channelopathies." Journal of Medical Genetics 57, no. 1 (June 19, 2019): 1–10. http://dx.doi.org/10.1136/jmedgenet-2019-106163.
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T-type channels are low-voltage-activated calcium channels that contribute to a variety of cellular and physiological functions, including neuronal excitability, hormone and neurotransmitter release as well as developmental aspects. Several human conditions including epilepsy, autism spectrum disorders, schizophrenia, motor neuron disorders and aldosteronism have been traced to variations in genes encoding T-type channels. In this short review, we present the genetics of T-type channels with an emphasis on structure-function relationships and associated channelopathies.
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Scotti-Muzzi, Estêvão, and Osvaldo Luis Saide. "Schizo-obsessive spectrum disorders: an update." CNS Spectrums 22, no. 3 (September 27, 2016): 258–72. http://dx.doi.org/10.1017/s1092852916000390.
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The presence of obsessive-compulsive symptoms (OCS) and obsessive-compulsive disorders (OCD) in schizophrenia is frequent, and a new clinical entity has been proposed for those who show the dual diagnosis: the schizo-obsessive disorder. This review scrutinizes the literature across the main academic databases, and provides an update on different aspects of schizo-obsessive spectrum disorders, which include schizophrenia, schizotypal personality disorder (SPD) with OCD, OCD with poor insight, schizophrenia with OCS, and schizophrenia with OCD (schizo-obsessive disorder). An epidemiological discussion on the discrepancies observed in the prevalence of OCS and OCD in schizophrenia across time is provided, followed by an overview of the main clinical and phenomenological features of the disorder in comparison to the primary conditions under a spectral perspective. An updated and comparative analysis of the main genetic, neurobiological, neurocognitive, and pharmacological treatment aspects for the schizo-obsessive spectrum is provided, and a discussion on endophenotypic markers is introduced in order to better understand its substrate. There is sufficient evidence in the literature to demonstrate the clinical relevance of the schizo-obsessive spectrum, although little is known about the neurobiology, genetics, and neurocognitive aspects of these groups. The pharmacological treatment of these patients is still challenging, and efforts to search for possible specific endophenotypic markers would open new avenues in the knowledge of schizo-obsessive spectrum.
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Venables, N. C., E. M. Bernat, and S. R. Sponheim. "Genetic and Disorder-Specific Aspects of Resting State EEG Abnormalities in Schizophrenia." Schizophrenia Bulletin 35, no. 4 (April 1, 2008): 826–39. http://dx.doi.org/10.1093/schbul/sbn021.
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Isohanni, Matti, Erika Lauronen, Kristiina Moilanen, Irene Isohanni, Liisa Kemppainen, Hannu Koponen, Jouko Miettunen, et al. "Predictors of schizophrenia." British Journal of Psychiatry 187, S48 (August 2005): s4—s7. http://dx.doi.org/10.1192/bjp.187.48.s4.
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BackgroundSubtle motor, emotional, cognitive and behavioural abnormalities are often present in apparently healthy individuals who later develop schizophrenia, suggesting that some aspects of causation are established before overt psychosis.AimsTo outline the development of schizophrenia.MethodWe drew on evidence from The Northern Finland 1966 Birth Cohort supplemented by selected findings from other relevant literature.ResultsThe main known risk factors in development of schizophrenia are genetic causes, pregnancy and delivery complications, slow neuromotor development, and deviant cognitive and academic performance. However, their effect size and predictive power are small.ConclusionsNo powerful risk factor, premorbid sign or risk indicator has been identified that is useful for the prediction of schizophrenia in the general population.
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Mendez, Mario F. "Huntington's Disease: Update and Review of Neuropsychiatric Aspects." International Journal of Psychiatry in Medicine 24, no. 3 (September 1994): 189–208. http://dx.doi.org/10.2190/hu6w-3k7q-nael-xu6k.
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Objective: This article presents a general update on Huntington's disease (HD) and reviews the psychiatric and cognitive features of this disorder. Method: HD is discussed in five sections: an introduction and update, the psychiatric aspects, the cognitive aspects, brain-behavior relationships, and the differential diagnosis and management. Results: Recent advancements in HD include the identification of presymptomatic testing methods and HD gene defect, structural and metabolic neuroimaging findings, and a neuropsychological profile. HD is associated with mood disorders, personality changes, irritable and explosive behavior, a schizophrenia-like illness, suicidal behavior, sexuality changes, and specific cognitive deficits. Conclusions: HD results in organic mental disorders from dysfunction of prefrontal-subcortical circuits coursing through the caudate nuclei. The diagnosis of HD is aided by genetic testing, neuroimaging, and neuropsychological testing. Management involves education, genetic counseling, and psychotropic medications. Finally, the future of HD holds promise for the development of rational, neurobiologically-based treatments and genetically engineered therapies.
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Glatt, Stephen J., William S. Stone, Stephen V. Faraone, Larry J. Seidman, and Ming T. Tsuang. "Psychopathology, personality traits and social development of young first-degree relatives of patients with schizophrenia." British Journal of Psychiatry 189, no. 4 (October 2006): 337–45. http://dx.doi.org/10.1192/bjp.bp.105.016998.
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BackgroundEvaluation of individuals at high genetic risk of schizophrenia is a powerful method for identifying precursors of the illness.AimsTo identify aspects of personality, psychopathology and social development that differentiate high-risk and control individuals.MethodAdolescent and young-adult first-degree relatives (n=35) of people with schizophrenia or schizoaffective disorder and a control group (n=55) were compared on 36 measures at baseline of a longitudinal study Measures differentiating high-risk and control participants were related to four genetic loading indices.ResultsHigh-risk participants older than 17 years showed more physical anhedonia, less positive involvement with peers and more problems with peers, siblings and the opposite gender. Older high-risk individuals also were less cooperative, less self-directed and less reward-dependent. Problems with peers and the opposite gender, as well as reward dependence, were related linearly to genetic loading.ConclusionsAlterations in personality traits and social development are present in high-risk individuals, and may be markers for genetic liability toward the illness.
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Radanovic, Marcia, Rafael T. de Sousa, L. Valiengo, Wagner Farid Gattaz, and Orestes Vicente Forlenza. "Formal Thought Disorder and language impairment in schizophrenia." Arquivos de Neuro-Psiquiatria 71, no. 1 (December 18, 2012): 55–60. http://dx.doi.org/10.1590/s0004-282x2012005000015.
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Schizophrenia is a psychiatric illness in which disorders of thought content are a prominent feature. The disruption of normal flow of thought, or “Formal Thought Disorder” (FTD), has been traditionally assessed through the content and form of patients’ speech, and speech abnormalities in schizophrenia were considered as a by-product of the disruption in conceptual structures and associative processes related to psychosis. This view has been changed due to increasing evidence that language per se is impaired in schizophrenia, especially its semantic, discursive, and pragmatic aspects. Schizophrenia is currently considered by some authors as a “language related human specific disease” or “logopathy”, and the neuroanatomical and genetic correlates of the language impairment in these patients are under investigation. Such efforts may lead to a better understanding about the pathophysiology of this devastating mental disease. We present some current concepts related to FTD as opposed to primary neurolinguistic abnormalities in schizophrenia.
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Chen, Jiayu, Ruijie Feng, and Ziyuan Ma. "Advance of Etiologies and Treatments on Schizophrenia." E3S Web of Conferences 292 (2021): 03067. http://dx.doi.org/10.1051/e3sconf/202129203067.
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Schizophrenia is a severe psychiatric disorder. Among the globe, almost 70% of people with schizophrenia would experience hallucinations that make them feel insecure and progressively weakened. Etiologies and treatments of this perilous disease, therefore, are supposed to be studied in depth. Although the exact causes are still unknown, scientists highly suggest that this disorder results from the combination of genes and environments. For genetic influences, genes such as NR3C2, Dysbindin-1 (DTNBP1), Neuritin-1 (NRN1), KPNB3, and KPNA3 play insignificant roles in the development of schizophrenia. For environmental influences, researchers collected data from different aspects to infer the causes of schizophrenia. The reasons, including season of birth, urbanization, are not related to schizophrenia causation. Furthermore, if pharmacological interventions such as chlorpromazine, followed by some psychotherapy at an early stage, schizophrenia has a chance of being cured and not relapsing. Many drugs on the market target G-protein-coupled receptors. To improve their bioavailability, a new technique called lipid-based self-nanoemulsifying drug delivery systems formulations assists with the absorption of them.
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Nenadic, Igor, Rachel A. Yotter, Heinrich Sauer, and Christian Gaser. "Patterns of cortical thinning in different subgroups of schizophrenia." British Journal of Psychiatry 206, no. 6 (June 2015): 479–83. http://dx.doi.org/10.1192/bjp.bp.114.148510.
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BackgroundAlterations of cortical thickness have been shown in imaging studies of schizophrenia but it is unclear to what extent they are related to disease phenotype (including symptom profile) or other aspects such as genetic liability, disease onset and disease progression.AimsTo test the hypothesis that cortical thinning would vary across different subgroups of patients with chronic schizophrenia, delineated according to their symptom profiles.MethodWe compared high-resolution magnetic resonance imaging data of 87 patients with DSM-IV schizophrenia with 108 controls to detect changes in cortical thickness across the entire brain (P<0.05, false discovery rate-adjusted). The patient group was divided into three subgroups, consisting of patients with predominantly negative, disorganised or paranoid symptoms.ResultsThe negative symptoms subgroup showed the most extensive cortical thinning, whereas thinning in the other subgroups was focused in prefrontal and temporal cortical subregions.ConclusionsOur findings support growing evidence of potential subtypes of schizophrenia that have different brain structural deficit profiles.
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Diamantopoulou, Anastasia, and Joseph A. Gogos. "Neurocognitive and Perceptual Processing in Genetic Mouse Models of Schizophrenia: Emerging Lessons." Neuroscientist 25, no. 6 (January 17, 2019): 597–619. http://dx.doi.org/10.1177/1073858418819435.
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During the past two decades, the number of animal models of psychiatric disorders has grown exponentially. Of these, genetic animal models that are modeled after rare but highly penetrant mutations hold great promise for deciphering critical molecular, synaptic, and neurocircuitry deficits of major psychiatric disorders, such as schizophrenia. Animal models should aim to focus on core aspects rather than capture the entire human disease. In this context, animal models with strong etiological validity, where behavioral and neurophysiological phenotypes and the features of the disease being modeled are in unambiguous homology, are being used to dissect both elementary and complex cognitive and perceptual processing deficits present in psychiatric disorders at the level of neurocircuitry, shedding new light on critical disease mechanisms. Recent progress in neuroscience along with large-scale initiatives that propose a consistent approach in characterizing these deficits across different laboratories will further enhance the efficacy of these studies that will ultimately lead to identifying new biological targets for drug development.
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Yolken, R. H., and E. F. Torrey. "Viruses, schizophrenia, and bipolar disorder." Clinical Microbiology Reviews 8, no. 1 (January 1995): 131–45. http://dx.doi.org/10.1128/cmr.8.1.131.
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The hypothesis that viruses or other infectious agents may cause schizophrenia or bipolar disorder dates to the 19th century but has recently been revived. It could explain many clinical, genetic, and epidemiologic aspects of these diseases, including the winter-spring birth seasonality, regional differences, urban birth, household crowding, having an older sibling, and prenatal exposure to influenza as risk factors. It could also explain observed immunological changes such as abnormalities of lymphocytes, proteins, autoantibodies, and cytokines. However, direct studies of viral infections in individuals with these psychiatric diseases have been predominantly negative. Most studies have examined antibodies in blood or cerebrospinal fluid, and relatively few studies have been done on viral antigens, genomes, cytopathic effect on cell culture, and animal transmission experiments. Viral research on schizophrenia and bipolar disorder is thus comparable to viral research on multiple sclerosis and Parkinson's disease: an attractive hypothesis with scattered interesting findings but no clear proof. The application of molecular biological techniques may allow the identification of novel infectious agents and the associations of these novel agents with serious mental diseases.
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Kircher, T. "Phenomenology and neural correlates of formal thought disorder." European Psychiatry 33, S1 (March 2016): S52. http://dx.doi.org/10.1016/j.eurpsy.2016.01.924.
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Speech and language disorders, such as concretism and formal thought disorder (FTD) are core symptoms of Schizophrenia, but do occur to a similar extent in other diagnoses such as bipolar disorder and major depression. We will review clinical rating scales of FTD and introduce a new, validated scale, the TALD. Further, structural and functional brain imaging data will be reviewed and own novel findings presented, relating speech and language dysfunctions to neural networks, within schizophrenia and across the “functional psychoses”. The impact of genetic variance and NNDA receptor blockage on brain function will be addressed with a particular focus on speech and language (dys-) function. We demonstrate, from the genetic to the brain structural and functional level, that particular aspects of the neural language system are disrupted in patients with FTD across traditional diagnoses.Disclosure of interestThe author has not supplied his declaration of competing interest.
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Nomura, Jun, and Toru Takumi. "Animal Models of Psychiatric Disorders That Reflect Human Copy Number Variation." Neural Plasticity 2012 (2012): 1–9. http://dx.doi.org/10.1155/2012/589524.
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The development of genetic technologies has led to the identification of several copy number variations (CNVs) in the human genome. Genome rearrangements affect dosage-sensitive gene expression in normal brain development. There is strong evidence associating human psychiatric disorders, especially autism spectrum disorders (ASDs) and schizophrenia to genetic risk factors and accumulated CNV risk loci. Deletions in 1q21, 3q29, 15q13, 17p12, and 22q11, as well as duplications in 16p11, 16p13, and 15q11-13 have been reported as recurrent CNVs in ASD and/or schizophrenia. Chromosome engineering can be a useful technology to reflect human diseases in animal models, especially CNV-based psychiatric disorders. This system, based on the Cre/loxPstrategy, uses large chromosome rearrangement such as deletion, duplication, inversion, and translocation. Although it is hard to reflect human pathophysiology in animal models, some aspects of molecular pathways, brain anatomy, cognitive, and behavioral phenotypes can be addressed. Some groups have created animal models of psychiatric disorders, ASD, and schizophrenia, which are based on human CNV. These mouse models display some brain anatomical and behavioral abnormalities, providing insight into human neuropsychiatric disorders that will contribute to novel drug screening for these devastating disorders.
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Rybakowski, Janusz K. "Matrix Metalloproteinase-9 (MMP9)—A Mediating Enzyme in Cardiovascular Disease, Cancer, and Neuropsychiatric Disorders." Cardiovascular Psychiatry and Neurology 2009 (August 31, 2009): 1–7. http://dx.doi.org/10.1155/2009/904836.
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Matrix metalloproteinase-9 (MMP9) has been implicated in numerous somatic illnesses, including cardiovascular disorders and cancer. Recently, MMP9 has been shown to be increasingly important in several aspects of central nervous system activity. Furthermore, a pathogenic role for this enzyme has been suggested in such neuropsychiatric disorders as schizophrenia, bipolar illness, and multiple sclerosis. In this paper, the results of biochemical and molecular-genetic studies on MMP9 that have been performed in these pathological conditions will be summarized. Furthermore, I hypothesize that the MMP9 gene, as shown by functional −1562 C/T polymorphism studies, may be mediating the relationship of neuropsychiatric illnesses (schizophrenia, bipolar mood disorder, multiple sclerosis) that are comorbid with cardiovascular disease and cancer.
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Yen, Po Yu, Muhammad Zaidi, and Syed Naqvi. "188 Challenges in Differentiating Between Obsession and Delusion in Schizophrenic Patients: A Case Report." CNS Spectrums 25, no. 2 (April 2020): 318–19. http://dx.doi.org/10.1017/s1092852920001030.
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Abstract:Schizophrenia is a serious, chronic mental illness that manifests a variety of symptoms: hallucinations, delusion of grandiose, disorganized behaviors, and neurocognitive decline after each episode. Among the patients with schizophrenia, obsessive- compulsive symptoms (OCS) or obsessive- compulsive disorder (OCD) are two relatively common comorbidities (25% and 12.5%, respectively). The appearance of these comorbidities complicates patient management: selecting the suitable pharmacological treatment may be challenging as delusion and obsession have similar presentation in this population. We would like to present a case which we suggest that differentiation between obsession and delusion will result in a positive impact on disease management.Patient was a middle- aged male with history of Schizophrenia and status post skin grafting. He presented with delusions, auditory hallucinations and disorganized behavior. During his hospitalization, he spent much portion of a day slapping or hitting his wound. He would not follow staffs’ recommendations regarding wound care as he believed that his behavior would lead to diminishing his pain from skin grafting and shorten the recovery time. He was treated with psychotropic medications, anti-depressants aided with medication for pain. Despite adequate pain management, appropriate dosage of anti-depressants and psychotherapy his self- injurious behavior persisted throughout the course of his hospitalization.In this report, we presented the challenges in managing compulsive behavior in a patient with Schizophrenia. To date, OCD and OCS are diagnosed based on clinical presentations, which results in difficulty in patient management especially when the illness is complicated by Schizophrenia. Patient was accessed with Yale- Brown Obsessive- Compulsive Scale on multiple occasions which the results indicated that he had subclinical OCD. However, the validity of the test is questionable as it is a test for severity of OCD; If his compulsive behavior was due to delusion rather than obsession, YBOCS should not be applied since it is limited to the patients with OCD.We propose that there is a necessity of developing a diagnostic intervention that may aid the differentiation between delusion and obsession in Schizophrenic patients. Genetic testing, for example, may be one of the potential diagnostic interventions to utilize clinically: A recent study, “Serotonin system genes and obsessive- compulsive trait dimensions in a population- based, pediatric sample: a genetic association study” by Sinopoli et al, has demonstrated a possible correlation between obsessive- compulsive spectrum disorders and serotonin gene variants. Although genetic testing of OCD is at its early stages and many aspects are yet to be discovered, it is optimistic to believe that potential benefits of the genetic test is tremendous as it will provide physicians a clearer picture in designing a treatment plan for this patient population.
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Bora, E., A. Fornito, M. Yücel, and C. Pantelis. "The effects of gender on grey matter abnormalities in major psychoses: a comparative voxelwise meta-analysis of schizophrenia and bipolar disorder." Psychological Medicine 42, no. 2 (August 11, 2011): 295–307. http://dx.doi.org/10.1017/s0033291711001450.
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BackgroundRecent evidence from genetic and familial studies revitalized the debate concerning the validity of the distinction between schizophrenia and bipolar disorder. Comparing brain imaging findings is an important avenue to examine similarities and differences and, therefore, the validity of the distinction between these conditions. However, in contrast to bipolar disorder, most patient samples in studies of schizophrenia are predominantly male. This a limiting factor for comparing schizophrenia and bipolar disorder since male gender is associated with more severe neurodevelopmental abnormalities, negative symptoms and cognitive deficits in schizophrenia.MethodWe used a coordinate-based meta-analysis technique to compare grey matter (GM) abnormalities in male-dominated schizophrenia, gender-balanced schizophrenia and bipolar disorder samples based on published voxel-based morphometry (VBM) studies. In total, 72 English-language, peer reviewed articles published prior to January 2011 were included. All reports used VBM for comparing schizophrenia or bipolar disorder with controls and reported whole-brain analyses in standard stereotactic space.ResultsGM reductions were more extensive in male-dominated schizophrenia compared to gender-balanced bipolar disorder and schizophrenia. In gender-balanced samples, GM reductions were less severe. Compared to controls, GM reductions were restricted to dorsal anterior cingulate cortex (ACC) and dorsolateral prefrontal cortex in schizophrenia and ACC and bilateral fronto-insular cortex in bipolar disorder.ConclusionsWhen gender is controlled, GM abnormalities in bipolar disorder and schizophrenia are mostly restricted to regions that have a role in emotional and cognitive aspects of salience respectively. Dorsomedial and dorsolateral prefrontal cortex were the only regions that showed greater GM reductions in schizophrenia compared to bipolar disorder.
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Tin, L. N. W., S. S. Y. Lui, K. K. Y. Ho, K. S. Y. Hung, Y. Wang, H. K. H. Yeung, T. Y. Wong, S. M. Lam, R. C. K. Chan, and E. F. C. Cheung. "High-functioning autism patients share similar but more severe impairments in verbal theory of mind than schizophrenia patients." Psychological Medicine 48, no. 8 (September 18, 2017): 1264–73. http://dx.doi.org/10.1017/s0033291717002690.
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AbstractBackgroundEvidence suggests that autism and schizophrenia share similarities in genetic, neuropsychological and behavioural aspects. Although both disorders are associated with theory of mind (ToM) impairments, a few studies have directly compared ToM between autism patients and schizophrenia patients. This study aimed to investigate to what extent high-functioning autism patients and schizophrenia patients share and differ in ToM performance.MethodsThirty high-functioning autism patients, 30 schizophrenia patients and 30 healthy individuals were recruited. Participants were matched in age, gender and estimated intelligence quotient. The verbal-based Faux Pas Task and the visual-based Yoni Task were utilised to examine first- and higher-order, affective and cognitive ToM. The task/item difficulty of two paradigms was examined using mixed model analyses of variance (ANOVAs). Multiple ANOVAs and mixed model ANOVAs were used to examine group differences in ToM.ResultsThe Faux Pas Task was more difficult than the Yoni Task. High-functioning autism patients showed more severely impaired verbal-based ToM in the Faux Pas Task, but shared similar visual-based ToM impairments in the Yoni Task with schizophrenia patients.ConclusionsThe findings that individuals with high-functioning autism shared similar but more severe impairments in verbal ToM than individuals with schizophrenia support the autism–schizophrenia continuum. The finding that verbal-based but not visual-based ToM was more impaired in high-functioning autism patients than schizophrenia patients could be attributable to the varied task/item difficulty between the two paradigms.
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Dimopoulou, Trisevgeni, Frank I. Tarazi, and Evangelia M. Tsapakis. "Clinical and therapeutic role of mentalization in schizophrenia—a review." CNS Spectrums 22, no. 6 (February 21, 2017): 450–62. http://dx.doi.org/10.1017/s1092852916000687.
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Recent empirical findings from clinical and genetic studies suggest that mentalization, a key area of social cognition, is a distinct construct, although it is closely related to the neurocognitive deficits and symptoms of schizophrenia. Mentalization contributes a great deal to impaired social functioning. Current measures often display methodological problems, and many aspects should be taken into account when assessing mentalization. Moreover, advances in cognitive and affective neurosciences have led to the development of more advanced behavioral methods to assess the relationship between cognitive functions, symptoms, and social cognition based on their underlying neural mechanisms. The development of assessment tools that better examine the neural circuitry of such relationships may lead to the development of new psychosocial and pharmacological treatments.
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Réthelyi, János, and Anna-Dalal Sawalhe. "Comorbidity of metabolic syndrome, diabetes and schizophrenia: theoretical and practical considerations." Orvosi Hetilap 152, no. 13 (March 2011): 505–11. http://dx.doi.org/10.1556/oh.2011.29079.
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Schizophrenia is a psychiatric disorder characterized by heterogeneous symptoms, affecting 0.8-1% of the population worldwide. It usually begins in early adulthood and demonstrates a chronic course. In recent years research interest has turned to the increased burden of somatic illness in schizophrenia, with special emphasis on metabolic syndrome and diabetes. In this article I review the theoretical and practical aspects of the comorbidity of schizophrenia with metabolic syndrome and diabetes mellitus. Epidemiological studies demonstrate the occurrence of metabolic syndrome between 22% and 66%, while the prevalence of diabetes is at least threefold compared to the non-psychiatric population in all age groups. Etiologically it is not clear to what extent these alterations are caused by direct genetic and biological effects in contrast to environmental factors. Among the latter the role of atypical antipsychotics should be emphasized. Clinical management of prediabetic conditions and diabetes in schizophrenia warrants the close cooperation of professionals working in the areas of psychiatry and diabetology. This cooperation should include close metabolic monitoring, lifestyle and dietary training, moreover careful modification and in some cases switching of antipsychotic medication. Persisting metabolic symptoms or diabetes require treatment with oral antidiabetics, fibrates, and statins. Orv. Hetil., 2011, 152, 505–511.
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Crespi, Bernard, and Christopher Badcock. "Psychosis and autism as diametrical disorders of the social brain." Behavioral and Brain Sciences 31, no. 3 (June 2008): 241–61. http://dx.doi.org/10.1017/s0140525x08004214.
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AbstractAutistic-spectrum conditions and psychotic-spectrum conditions (mainly schizophrenia, bipolar disorder, and major depression) represent two major suites of disorders of human cognition, affect, and behavior that involve altered development and function of the social brain. We describe evidence that a large set of phenotypic traits exhibit diametrically opposite phenotypes in autistic-spectrum versus psychotic-spectrum conditions, with a focus on schizophrenia. This suite of traits is inter-correlated, in that autism involves a general pattern of constrained overgrowth, whereas schizophrenia involves undergrowth. These disorders also exhibit diametric patterns for traits related to social brain development, including aspects of gaze, agency, social cognition, local versus global processing, language, and behavior. Social cognition is thus underdeveloped in autistic-spectrum conditions and hyper-developed on the psychotic spectrum.;>We propose and evaluate a novel hypothesis that may help to explain these diametric phenotypes: that the development of these two sets of conditions is mediated in part by alterations of genomic imprinting. Evidence regarding the genetic, physiological, neurological, and psychological underpinnings of psychotic-spectrum conditions supports the hypothesis that the etiologies of these conditions involve biases towards increased relative effects from imprinted genes with maternal expression, which engender a general pattern of undergrowth. By contrast, autistic-spectrum conditions appear to involve increased relative bias towards effects of paternally expressed genes, which mediate overgrowth. This hypothesis provides a simple yet comprehensive theory, grounded in evolutionary biology and genetics, for understanding the causes and phenotypes of autistic-spectrum and psychotic-spectrum conditions.
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Andrade, Arturo, Ashton Brennecke, Shayna Mallat, Julian Brown, Juan Gomez-Rivadeneira, Natalie Czepiel, and Laura Londrigan. "Genetic Associations between Voltage-Gated Calcium Channels and Psychiatric Disorders." International Journal of Molecular Sciences 20, no. 14 (July 19, 2019): 3537. http://dx.doi.org/10.3390/ijms20143537.
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Psychiatric disorders are mental, behavioral or emotional disorders. These conditions are prevalent, one in four adults suffer from any type of psychiatric disorders world-wide. It has always been observed that psychiatric disorders have a genetic component, however, new methods to sequence full genomes of large cohorts have identified with high precision genetic risk loci for these conditions. Psychiatric disorders include, but are not limited to, bipolar disorder, schizophrenia, autism spectrum disorder, anxiety disorders, major depressive disorder, and attention-deficit and hyperactivity disorder. Several risk loci for psychiatric disorders fall within genes that encode for voltage-gated calcium channels (CaVs). Calcium entering through CaVs is crucial for multiple neuronal processes. In this review, we will summarize recent findings that link CaVs and their auxiliary subunits to psychiatric disorders. First, we will provide a general overview of CaVs structure, classification, function, expression and pharmacology. Next, we will summarize tools to study risk loci associated with psychiatric disorders. We will examine functional studies of risk variations in CaV genes when available. Finally, we will review pharmacological evidence of the use of CaV modulators to treat psychiatric disorders. Our review will be of interest for those studying pathophysiological aspects of CaVs.
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Bertelli, M., L. Salvador-Carulla, R. Keller, and E. Bradley. "Intellectual developmental disorders, autism, and schizophrenia spectrum: New boundaries in the neurodevelopmental perspective." European Psychiatry 41, S1 (April 2017): S467. http://dx.doi.org/10.1016/j.eurpsy.2017.01.525.
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Background and aimRecent evidences of clinical overlap, familial co-aggregation, and shared genetic alterations support a neurodevelopmental deviation to represent a probable common vulnerability factor not only for the psychiatric disorders included in the meta-structure of neurodevelopmental disorders, but also for other major psychiatric disorders, including schizophrenia.The present paper reviews the literature to identify (1) positive and negative implications of the increasing enlargement of the group of neurodevelopmental disorders and (2) most useful clinical aspect for re-defining diagnostic boundaries between syndromic groups.MethodsThe search purpose was reached through a systematic mapping of literature.ResultsThe last years’ trend to increasingly enlarge the number of psychiatric features comprised in the autism spectrum should be better evaluated for potential negative impact on research and clinical resources for those autistic syndromes more reliable with Kanner's descriptions or associated with lower personal functioning profiles and different level of ID.Crucial clinical aspects for the differentiation resulted to be age of onset, interest towards others, main positive symptoms, and anatomical anomalies of the central nervous system.ConclusionsWhile on one hand the neurodevelopmental perspective might contribute to a better understanding of the multifactorial aetiopathogenetic mechanisms underlying many psychiatric disorders and provide new intervention strategies, on the other hand it might determine a premature abandonment of the traditional nosology and the appearance of very broad spectrum conditions covering all the range of current psychopathology.Disclosure of interestThe authors have not supplied their declaration of competing interest.
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Szendi, I., A. Juhász, G. Szekeres, C. Cimmer, G. Csifcsak, A. Z. Kovacs, A. Rimanoczy, G. Galsi, K. Boda, and Z. Janka. "P.3.a.021 Examination of specific genetic aspects of the dopaminergic neurotransmission and neuronal plasticity in neurocognitive subgrouping of schizophrenia." European Neuropsychopharmacology 16 (January 2006): S375—S376. http://dx.doi.org/10.1016/s0924-977x(06)70450-3.
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Wulandari, Patricia. "Biomolecular Aspects of Schizophrenia." Bioscientia Medicina : Journal of Biomedicine and Translational Research 3, no. 2 (May 30, 2019): 38–43. http://dx.doi.org/10.32539/bsm.v3i2.88.
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Abstract
Schizophrenia is a common psychiatric disorder, which is characterized by severe distortion of reality; disturbances in thoughts, feelings and behavior; according to DSM V is a disorder form deviations fundamentals and characteristics of thought and perception, and by the innapropriate or blunted affect. The influence of genetics is believed to have a role in psychiatric disorders, especially if the disorder has occurred in young adults or adolescents. The pathophysiology of schizophrenia is closely related to disorders of the biomolecular aspects of the central nervous system. Dopamine activity in the striatal area and prefrontal cortex is a mechanism believed to be the cause of the emergence of positive and negative symptoms in schizophrenia. Meanwhile, neuronal cell apoptosis and increased oxidants, especially in the basal ganglia and prefrontal cortex areas cause worsening of negative symptoms experienced by schizophrenic patients.
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Benítez-Burraco, Antonio, Lorena Di Pietro, Marta Barba, and Wanda Lattanzi. "Schizophrenia and Human Self-Domestication: An Evolutionary Linguistics Approach." Brain, Behavior and Evolution 89, no. 3 (2017): 162–84. http://dx.doi.org/10.1159/000468506.
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Schizophrenia (SZ) is a pervasive neurodevelopmental disorder that entails social and cognitive deficits, including marked language problems. Its complex multifactorial etiopathogenesis, including genetic and environmental factors, is still widely uncertain. SZ incidence has always been high and quite stable in human populations, across time and regardless of cultural implications, for unclear reasons. It has been hypothesized that SZ pathophysiology may involve the biological components that changed during the recent human evolutionary history, and led to our distinctive mode of cognition, which includes language skills. In this paper we explore this hypothesis, focusing on the self-domestication of the human species. This has been claimed to account for many human-specific distinctive traits, including aspects of our behavior and cognition, and to favor the emergence of complex languages through cultural evolution. The “domestication syndrome” in mammals comprises the constellation of traits exhibited by domesticated strains, seemingly resulting from the hypofunction of the neural crest. It is our intention to show that people with SZ exhibit more marked domesticated traits at the morphological, physiological, and behavioral levels. We also show that genes involved in domestication and neural crest development and function comprise nearly 20% of SZ candidates, most of which exhibit altered expression profiles in the brain of SZ patients, specifically in areas involved in language processing. Based on these observations, we conclude that SZ may represent an abnormal ontogenetic itinerary for the human faculty of language, resulting, at least in part, from changes in genes important for the domestication syndrome and primarily involving the neural crest.
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Crow, T. J. "Sex Chromosomes and Psychosis." British Journal of Psychiatry 153, no. 5 (November 1988): 675–83. http://dx.doi.org/10.1192/bjp.153.5.675.
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Although the incidence of the recurrent psychoses (bipolar affective illness and schizophrenia) in the two sexes is approximately equal, gender influences a number of aspects of major psychiatric disease: unipolar depressive illness is twice as common in females, onset of schizophrenia is earlier and outcome is worse in males, and pairs of psychotic first-degree relatives are more often than expected of the same sex. In addition, sex chromosomal aneuploidies (e.g. XXY and XXX) are more frequent in patients with psychosis. Some of these findings can be explained if there is a major locus of predisposition to psychiatric disease in the ‘pseudoautosomal’ region of the sex chromosomes – that distal segment of the short arms in which there is genetic exchange between X and Y chromosomes at male meiosis. A gene located here would be transmitted in an autosomal manner, but would be passed above chance expectation to children of the same sex when inherited through a male. In that this segment of the sex chromosomes is subject to a high rate of recombination (which could generate new mutations), and may include determinants of brain lateralisation, it appears that the pseudoautosomal region could carry the genes which predispose to the major psychoses.
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Bora, Emre, Burcu Verim, Ozge Akgul, Ayşegül Ildız, Köksal Alptekin, Ayşegül Özerdem, and Berna Binnur Akdede. "S63. CLINICAL AND DEVELOPMENTAL CHARACTERISTICS OF COGNITIVE SUBGROUPS IN A TRANSDIAGNOSTIC SAMPLE OF SCHIZOPHRENIA, SCHIZOAFFECTIVE DISORDER AND BIPOLAR DISORDER." Schizophrenia Bulletin 46, Supplement_1 (April 2020): S57. http://dx.doi.org/10.1093/schbul/sbaa031.129.
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Abstract Background Evidence suggests that neurocognitive dysfunction is a transdiagnostic feature of individuals across continuum between schizophrenia and bipolar disorder. However, there is a significant heterogeneity of neuropsychological and social cognitive abilities in schizophrenia, schizoaffective disorder and bipolar disorder. In recent years, several studies have investigated cognitive subgroups in schizophrenia-bipolar disorder continuum using data-driven methods and found that bipolar disorder includes several subgroups including a severely impaired and a neurocognitively intact clusters. However, neurodevelopmental and clinical characteristics of cognitive subgroups are not clear. Methods 147 clinically stable patients with schizophrenia, schizoaffective or bipolar disorder were assessed using clinical rating scales for current psychotic and affective symptoms, schizobipolar scale, and a comprehensive neuropsychological battery including measures of ToM (Hinting and Reading the mind from the Eyes (RMET) task)). Developmental history and premorbid academic functioning were also evaluated. The study also included 37 healthy controls. Neurocognitive subgroups were investigated using latent class analysis (LCA). The optimal number of clusters were determined based on Bayesian information criterion. Logistic regression analysis were conducted to investigate the predictors of the membership to globally impaired subgroup. Results LCA revealed two neurocognitive clusters including generally impaired (n=89, 60.5 %) and near-normal cognitive functioning (n=58, 39.5 %) subgroups. The generally impaired subgroup significantly underperformed both groups in memory, executive functions, processing speed, attention and both aspects of ToM. The near-normal cognitive functioning subgroup did not significantly underperformed healthy controls except RMET (p=0.01). The generally impaired subgroup had a history of increased number of developmental abnormalities (p=0.03) and more severe disorganised speech (p=0.02) compared to the near-normal cognitive functioning group. The near-normal subgroup had a significantly higher percentage of individuals with a history of good academic performance in childhood than the globally impaired group (p=0.002). Compared to the near-normal subgroup, the globally impaired subgroup was significantly older (p<0.001) and had mothers who were less educated (p=0.02). While relatively higher percentage of patients with bipolar disorder than schizophrenia were members of the near-normal functioning subgroup (and opposite for the generally impaired subgroup), the between-group difference was not significant. Logistic regression analysis suggested that both the number of neurodevelopmental abnormalities (p=0.02) and disorganised speech (p=0.05) were significant predictors of being included in the globally cognitive impaired subgroup (Log likelihood=144. 4, R2=0.23, p=0.003, percentage correctly identified as globally impaired 81.1 %). Discussion History of developmental abnormalities and persistent disorganisation rather than diagnosis are the significant predictors of the subgroup of individuals with global cognitive impairment in schizophrenia-bipolar disorder continuum. Studies investigating neurobiological and genetic underpinnings of the relationship between cognitive impairment, neurodevelopmental abnormalities and persistent disorganised speech might be important to develop a more valid classification of disorders presenting with psychotic and mood symptoms.
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BYRNE, M., A. HODGES, E. GRANT, D. C. OWENS, and E. C. JOHNSTONE. "Neuropsychological assessment of young people at high genetic risk for developing schizophrenia compared with controls: preliminary findings of the Edinburgh High Risk Study (EHRS)." Psychological Medicine 29, no. 5 (September 1999): 1161–73. http://dx.doi.org/10.1017/s0033291799001002.
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Background. Finding risk indicators for schizophrenia among groups of individuals at high genetic risk for the disorder, has been the driving force of the high risk paradigm. The current study describes the preliminary results of a neuropsychological assessment battery conducted on the first 50% of subjects from the Edinburgh High Risk Study.Methods. One hundred and four high risk subjects and 33 normal controls, age and sex matched, were given a neuropsychological assessment battery. The areas of function assessed and reported here include intellectual function, executive function, perceptual motor speed, mental control/encoding, verbal ability and language, learning and memory measures, and handedness.Results. The high risk subjects performed significantly more poorly than the control subjects in the following domains of neuropsychological function: intellectual function, executive function, mental control/encoding and learning, and memory. Controlling for IQ, high risk subjects made significantly more errors on the Hayling Sentence Completion Test (HSCT), took longer to complete section A of the HSCT, had lower scores on the delayed recall condition of the visual reproductions subtest of the Wechsler Memory Scale-Revised, and had significantly poorer Rivermead Behavioural Memory Test (RBMT) standardized scores. The presence of significant group by IQ interactions for the RBMT and time to complete section A of the HSCT suggested that differences among the groups were more marked in the lower IQ range. Performance on the HSCT was found to be related to the degree of family history of schizophrenia.Conclusions. High risk subjects performed more poorly than controls on all tests of intellectual function and on aspects of executive function and memory.
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Crespi, Bernard, Silven Read, Amy Ly, and Peter Hurd. "AMBRA1, Autophagy, and the Extreme Male Brain Theory of Autism." Autism Research and Treatment 2019 (October 10, 2019): 1–6. http://dx.doi.org/10.1155/2019/1968580.
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The extreme male brain theory of autism posits that its male bias is mediated by exaggeration of male-biased sex differences in the expression of autism-associated traits found in typical populations. The theory is supported by extensive phenotypic evidence, but no genes have yet been described with properties that fit its predictions. The autophagy-associated gene AMBRA1 represents one of the top genome-wide “hits” in recent GWAS studies of schizophrenia, shows sex-differential expression, and has been linked with autism risk and traits in humans and mice, especially or exclusively among females. We genotyped the AMBRA1 autism-risk SNP in a population of typical humans who were scored for the dimensional expression of autistic and schizotypal traits. Females, but not males, homozygous for the GG genotype showed a significant increase in score for the single trait, the Autism Quotient-Imagination subscale, that exhibits a strong, significant male bias in typical populations. As such, females with this genotype resembled males for this highly sexually dimorphic, autism-associated phenotype. These findings support the extreme male brain hypothesis and indicate that sex-specific genetic effects can mediate aspects of risk for autism.
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Simard, Mathieu, Catherine Laprise, and Simon L. Girard. "Impact of Paternal Age at Conception on Human Health." Clinical Chemistry 65, no. 1 (January 1, 2019): 146–52. http://dx.doi.org/10.1373/clinchem.2018.294421.
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Abstract BACKGROUND The effect of maternal age at conception on various aspects of offspring health is well documented and often discussed. We seldom hear about the paternal age effect on offspring health, although the link is now almost as solid as with maternal age. The causes behind this, however, are drastically different between males and females. CONTENT In this review article, we will first examine documented physiological changes linked to paternal age effect. We will start with all morphological aspects of the testis that have been shown to be altered with aging. We will then move on to all the parameters of spermatogenesis that are linked with paternal age at conception. The biggest part of this review will focus on genetic changes associated with paternal age effects. Several studies that have established a strong link between paternal age at conception and the rate of de novo mutations will be reviewed. We will next discuss paternal age effects associated with telomere length and try to better understand the seemingly contradictory results. Finally, severe diseases that affect brain functions and normal development have been associated with older paternal age at conception. In this context, we will discuss the cases of autism spectrum disorder and schizophrenia, as well as several childhood cancers. SUMMARY In many Western civilizations, the age at which parents have their first child has increased substantially in recent decades. It is important to summarize major health issues associated with an increased paternal age at conception to better model public health systems.
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Paulet, Manuel, Alin Ciobica, Sabina Cojocaru, Radu Popescu, and Daniel Timofte. "The relevance of motivation in schizophrenia." Archives of Biological Sciences 67, no. 4 (2015): 1425–29. http://dx.doi.org/10.2298/abs140505122p.
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Lately there is a growing interest in the negative symptoms in schizophrenia and their mechanisms of action, with special focus on the motivation process. The lack of motivation is increasingly recognized to be a very important impediment to positive management in schizophrenic pathology. In this mini-review, we described the current understanding of the nature and causes of the specific motivational deficits in schizophrenia in order to find better management strategies for this heterogeneous disorder. All the data and theories presented here clearly demonstrate that amotivation is a fundamental aspect of the negative symptomatology in schizophrenia and could represent a useful factor in understanding and improving the mechanisms and further management of schizophrenia.
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Carter, J. W., J. Parnas, A. Urfer-Parnas, J. Watson, and S. A. Mednick. "Intellectual functioning and the long-term course of schizophrenia-spectrum illness." Psychological Medicine 41, no. 6 (September 22, 2010): 1223–37. http://dx.doi.org/10.1017/s0033291710001820.
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BackgroundRecent neurodevelopmental models of schizophrenia, together with substantial evidence of neurocognitive dysfunction among people with schizophrenia, have led to a widespread view that general cognitive deficits are a central aspect of schizophrenic pathology. However, the temporal relationships between intellectual functioning and schizophrenia-spectrum illness remain unclear.MethodLongitudinal data from the Copenhagen High-Risk Project (CHRP) were used to evaluate the importance of intellectual functioning in the prediction of diagnostic and functional outcomes associated with the schizophrenia spectrum. The effect of spectrum illness on intellectual and educational performance was also evaluated. The sample consisted of 311 Danish participants: 99 at low risk, 155 at high risk, and 57 at super-high risk for schizophrenia. Participants were given intellectual [Weschler's Intelligence Scale for Children (WISC)/Weschler's Adult Intelligence Scale (WAIS)] assessments at mean ages of 15 and 24 years, and diagnostic and functional assessments at mean ages 24 and 42 years.ResultsIntellectual functioning was found to have no predictive relationship to later psychosis or spectrum personality, and minimal to no direct relationship to later measures of work/independent living, psychiatric treatment, and overall severity. No decline in intellectual functioning was associated with either psychosis or spectrum personality.ConclusionsThese largely negative findings are discussed in the light of strong predictive relationships existing between genetic risk, diagnosis and functional outcomes. The pattern of predictive relationships suggests that overall cognitive functioning may play less of a role in schizophrenia-spectrum pathology than is widely believed, at least among populations with an evident family history of schizophrenia.
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Biernacka, J. M., K. Sangkuhl, G. Jenkins, R. M. Whaley, P. Barman, A. Batzler, R. B. Altman, et al. "The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response." Translational Psychiatry 5, no. 4 (April 2015): e553-e553. http://dx.doi.org/10.1038/tp.2015.47.
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Abstract Response to treatment with selective serotonin reuptake inhibitors (SSRIs) varies considerably between patients. The International SSRI Pharmacogenomics Consortium (ISPC) was formed with the primary goal of identifying genetic variation that may contribute to response to SSRI treatment of major depressive disorder. A genome-wide association study of 4-week treatment outcomes, measured using the 17-item Hamilton Rating Scale for Depression (HRSD-17), was performed using data from 865 subjects from seven sites. The primary outcomes were percent change in HRSD-17 score and response, defined as at least 50% reduction in HRSD-17. Data from two prior studies, the Pharmacogenomics Research Network Antidepressant Medication Pharmacogenomics Study (PGRN-AMPS) and the Sequenced Treatment Alternatives to Relieve Depression (STAR*D) study, were used for replication, and a meta-analysis of the three studies was performed (N=2394). Although many top association signals in the ISPC analysis map to interesting candidate genes, none were significant at the genome-wide level and the associations were not replicated using PGRN-AMPS and STAR*D data. Top association results in the meta-analysis of response included single-nucleotide polymorphisms (SNPs) in the HPRTP4 (hypoxanthine phosphoribosyltransferase pseudogene 4)/VSTM5 (V-set and transmembrane domain containing 5) region, which approached genome-wide significance (P=5.03E−08) and SNPs 5’ upstream of the neuregulin-1 gene, NRG1 (P=1.20E−06). NRG1 is involved in many aspects of brain development, including neuronal maturation and variations in this gene have been shown to be associated with increased risk for mental disorders, particularly schizophrenia. Replication and functional studies of these findings are warranted.