Diagnóza schizofrenie je založena na symptomech, které lze obecně popsat jako narušení prožívání self (jáství). Mezi tyto příznaky spadají například symptomy pasivity, jako v případě bludu kontroly a bludu odnímání myšlenek, či auditivní halucinace, tedy příznaky, v nichž pacienti nadmíru přisuzují vlastní aktivitu vnějšímu působiteli, a naopak. Souhrnně lze tyto projevy charakterizovat jako narušení hranice mezi vnitřním a vnějším, mezi já a ne-já. Dle současných přístupů se schizofrenie – stejně jako je tomu i u jiných duševních onemocnění – vyskytuje na škále, spíše než by se jednalo o dichotomickou kategorii, a mírnější varianty projevů této nemoci jsou přítomny také v běžné populaci. Působením genetických vlivů je pak možné je výrazněji sledovat u zdravých rodinných členů pacientů se schizofrenií. Článek analyzuje narušení prožívání self jakožto potenciální endofenotyp u schizofrenie, který se projevuje na kontinuu.

Diagnosis of schizophrenia has been traditionally linked to symptoms that can be described broadly as a disruption of the basic sense of self. These symptoms encompass, for example, symptoms of passivity as in the case of delusion of control, thought withdrawal, or auditory hallucinations, i.e. symptoms in which patients excessively over-attribute their own activity to some external forces. In general, these symptoms are characterized by the disturbance of the demarcation between self and others. Recent accounts underline the fact that, similarly to other traits or mental illnesses, symptoms of schizophrenia are present on a continuum. Thus, they can be found in the general population. Due to their genetic underpinnings, these traits are often more pronounced in unaffected relatives of schizophrenia patients. This review analyzes self-disturbances as a potential endophenotype of schizophrenia, which is expressed on a continuum.

• MeSH
• Ego MeSH
• Endophenotypes MeSH
• Humans MeSH
• Reality Testing MeSH
• Personality Disorders classification   MeSH
• Psychological Tests MeSH
• Schizophrenia diagnosis   physiopathology   MeSH
• Check Tag
• Humans MeSH
• Publication type
• Research Support, Non-U.S. Gov't MeSH
• Review MeSH

BACKGROUND: A new method of assessment of microvascular abnormality in living schizophrenic subjects via retinal imaging was described by Meier et al. (2013). The principal aim of this review is to summarise the relevant knowledge and suggest further avenues of research into this topic. SUBJECT AND METHODS: On 20th April 2015, we carried out a search using the computer database system PubMed by using keywords "microvascular AND schizophrenia". RESULTS: Out of the 17 articles found, only seven were relevant. They are generally consistent with the hypothesis of microvascular pathology and brain inflammation as part of the pathogenesis in schizophrenia. It is important to stress that all studies of brain microvasculature in schizophrenia to date have been post mortem findings, apart from the work by Meier et al. (2013) which is related to retinal imaging in living subjects. CONCLUSIONS: Based on the literature, we suggest the following research and clinical avenues: Firstly, to assess whether microvascular abnormality found via retinal imaging, fulfils the criteria for the schizophrenia endophenotype. Secondly, to examine retinal imaging in high-risk individuals for schizophrenia. Thirdly, to determine whether the fMRI findings and cognitive abilities of schizophrenia patients in both longitudinal as well as cross-sectional studies, is associated with the microvascular abnormalities assessed by the retinal imaging. Fourthly, to determine if there is a correlation between microvascular retinal pathology and the positive or negative schizophrenia symptoms. Furthermore, to determine if childhood maltreatment results in any abnormities in retinal imaging. Lastly, to analyse the genetic background of schizophrenia retinal microvascular pathology and to apply anti-inflammatory agents in the treatment and prevention of schizophrenia if brain vasculitis is confirmed.

• MeSH
• Endophenotypes chemistry   MeSH
• Humans MeSH
• Magnetic Resonance Imaging MeSH
• Brain pathology   MeSH
• Cross-Sectional Studies MeSH
• Schizophrenia diagnosis   MeSH
• Check Tag
• Humans MeSH
• Publication type
• Journal Article MeSH
• Research Support, Non-U.S. Gov't MeSH

BACKGROUND: Bipolar disorder (BD) is a severe psychiatric disorder associated with structural and functional brain abnormalities, some of which have been found in unaffected relatives as well. In this study, we examined the potential role of decreased fractional anisotropy (FA) as a BD endophenotype, in adolescents at high risk for BD. METHODS: We included 15 offspring of patients with BD, 16 pediatric BD patients, and 16 matched controls. Diffusion weighted scans were obtained on a 3T scanner using an echo-planar sequence. Scans were segmented using FreeSurfer. RESULTS: Our results showed significantly decreased FA in six brain areas of offspring group; left superior temporal gyrus (LSTG; P < .0001), left transverse temporal gyrus (LTTG; P = .002), left banks of the superior temporal sulcus (LBSTS; P = .002), left anterior cingulum (LAC; P = .003), right temporal pole (RTP; P = .004) and left frontal pole (LFP; P = .017). On analysis, LSTG, LAC, and RTP demonstrated a potential to be an endophenotype when comparing all three groups. FA values in three regions, LBSTS, LTTG, and LFP were increased only in controls. CONCLUSION: Our findings point at decreased FA as a possible endophenotype for BD, as they were found in children of patients with BD. Most of these areas were previously found to have morphological and functional changes in adult and pediatric BD, and are thought to play important roles in affected domains of functioning. Prospective follow up studies should be performed to detect reliability of decreased FA as an endophenotype and effects of treatment on FA.

• MeSH
• Anisotropy MeSH
• Bipolar Disorder * diagnosis   MeSH
• Child MeSH
• Adult MeSH
• Endophenotypes MeSH
• Humans MeSH
• Adolescent MeSH
• Prospective Studies MeSH
• Reproducibility of Results MeSH
• Diffusion Tensor Imaging methods   MeSH
• Check Tag
• Child MeSH
• Adult MeSH
• Humans MeSH
• Adolescent MeSH
• Publication type
• Journal Article MeSH

• Publication type
• Meeting Abstract MeSH

Reports of subjective sleep impairments have been replicated in adults with bipolar disorder (BD), young BD patients, and even children of parents with BD. Furthermore, circadian rhythm alterations are a core feature of BD. Despite the impairment in circadian rhythms and altered sleep included in various heuristic developmental models of BD, thus far, biomarkers have not been sufficiently objectively validated. Thus, here, we assessed the rest-activity circadian rhythmicity and sleep macrostructure using actigraphy in a sample of unaffected child and adolescent offspring of bipolar parents (BO; n = 43; 21 females; 11.0 ± 3.2 years) and controls (n = 42; 17 females; 11.1 ± 3.4 years) comparable in sex (p = .4) and age (p = .7). All participants wore a MotionWatch 8 (Camntech, Cambridge, UK) actigraph on their nondominant wrist for ≥ 14 days and completed sleep diaries. Psychopathology was assessed by the Kiddie Schedule for Affective Disorders and Schizophrenia and by subjective scales. The main areas of interest were rest-activity circadian rhythmicity, chronotype and sleep macrostructure. Subgroup analyses (child and adolescent subgroups) were conducted to identify physiological differences in sleep between these age groups. The BO and controls did not differ in the presence of current mood (p = .5) and anxiety (p = .6) disorders. The BO had shorter sleep time on free days (p = .007; effect size, Cohen´s d = 0.56), lower sleep efficiency on free days (p = .01; d = 0.47), lower prolongation of time in bed on free days (p = .046; d = 0.41), and lower social jet lag (p = .04; d = 0.5) than the controls. A longer sleep time on school days (p < .001; d = 0.21), lower prolongation of sleep time between school and free days (p = .008; d = 0.74), and larger difference in sleep onset latency between school days and free days (p = .009; d = 0.52) were observed in the adolescent BO than in the controls. The child BO had poorer sleep quality on free days than the controls (p = .02; d = 0.96). In all cases, the results remained significant after controlling for subthreshold mood and anxiety symptoms. The BO had less variable rest-activity rhythm than controls (p = .04; d = 0.32). No other significant differences between the BO and controls were observed in the rest-activity circadian rhythmicity and chronotype. The results showed decreased physiological catch-up sleep on free days in the BO, which may indicate a decreased need for sleep in this population. Thus, the decreased need for sleep observed in the unaffected BO may represent an endophenotype of BD.

• MeSH
• Affect MeSH
• Actigraphy MeSH
• Biomarkers metabolism   MeSH
• Bipolar Disorder complications   diagnosis   MeSH
• Chronobiology Disorders complications   diagnosis   MeSH
• Circadian Rhythm * MeSH
• Child MeSH
• Phenotype MeSH
• Fitness Trackers MeSH
• Humans MeSH
• Adolescent MeSH
• Sleep Disorders, Circadian Rhythm complications   diagnosis   MeSH
• Surveys and Questionnaires MeSH
• Parents MeSH
• Sex Factors MeSH
• Schools MeSH
• Sleep * MeSH
• Anxiety complications   MeSH
• Check Tag
• Child MeSH
• Humans MeSH
• Adolescent MeSH
• Male MeSH
• Female MeSH
• Publication type
• Journal Article MeSH
• Research Support, Non-U.S. Gov't MeSH

Mikrovaskulární abnormality na sítnici oka budou vyšetřovány u 80 nemocných schizofrenií, jejich 80 zdravých příbuzných prvého stupně a 80 zdravých kontrolních jedinců. Kromě toho budou vyšetřovány polymorfismy genů, které mají vztah k angiogenezi a zánětu aby byl nalezen genetický podklad případné mikrovaskulární patologie. Zobrazování sítnice oka a hodnocení cévní patologie v psychiatrii je současným revolučním počinem Meiera a kol. (2013). Je to jediná metoda, jak hodnotit případné mikrovaskulární abnormality na sítnici oka u živých pacientů se schizofrenií, kdy tyto cévy jsou strukturálně a funkčně podobné cévám mozku. Zobrazování sítnice je relativně snadné, dostupné, neinvazivní, rychlé a levné. Předkládaný výzkumný projekt je pokusem zjistit, zda mikrovaskulární abnormality na sítnici oka splňují jedno z podstatných kritérií endofenotypu – nález má být významně častější u zdravých příbuzných pacientů než v celkové populaci. Projekt má inovativním způsobem přispět k našemu poznání etiopatogeneze schizofrenie.; Microvascular abnormality will be assessed in 80 schizophrenia patients, their 80 healthy first-degree relatives and 80 healthy controls by retinal imaging. In addition, polymorphisms of the genes relevant for angiogenesis and inflammation will be examined to find out the genetic background of possible microvascular pathology. Retinal imaging in schizophrenia is a recent and revolutionary step by Meier et al. (2013). This is the only method how to ascertain possible microvasculature abnormality in retinal vessels which are structurally and functionally homologous to the brain vessels in living patients with schizophrenia. Retinal imaging is relatively easy, available, non-invasive, quick and cheap. The proposed research project is the attempt to find out whether microvascular abnormality assessed by retinal imaging fulfils the important criterion for an endophenotype - it should be found significantly more frequently in the patients ́ healthy relatives than in the general population. The project should contribute to our knowledge on schizophrenia etiopathogenesis in an innovative w...

• MeSH
• Endophenotypes MeSH
• Genetic Testing MeSH
• Humans MeSH
• Microvessels pathology   MeSH
• Vascular Diseases diagnosis   complications   MeSH
• Retinal Diseases diagnosis   complications   MeSH
• Polymorphism, Genetic MeSH
• Schizophrenia genetics   MeSH
• Check Tag
• Humans MeSH

• Conspectus
• Patologie. Klinická medicína
• NML Fields
• psychiatrie
• angiologie
• genetika, lékařská genetika
• NML Publication type
• závěrečné zprávy o řešení grantu AZV MZ ČR

Moderními metodami genetického výzkumu schizofrenie jsou celogenomové asociační studie a hledání mikrodelecí/mikroduplikací DNA. Takto mohou být významné geny či polymorfizmy nalezeny, neznáme však jejich roli v patogenezi onemocnění. Proto se pozornost obrací ke genetickému vyšetřování endofenotypů schizofrenie. Endofenotyp je nejčastěji neurobiologická či neuropsychologická charakteristika asociovaná s danou nemocí, je dědičná a celoživotní a vyskytuje se také u duševně zdravých příbuzných pacienta. U schizofrenie jsou studovány zejména endofenotypy neurofyziologické, neuromotorické, neurokognitivní, neuroanatomické a neurologické. V tomto přehledovém článku jsou nejvýznamnější endofenotypy schizofrenie popsány, zmíněn je jejich biologický podklad a možné významné genetické nálezy. Problémem popisovaného výzkumu je zejména skutečnost, že schizofrenie je klinicky velmi heterogenní a výskyt endofenotypů se u jejích jednotlivých podskupin může významně lišit. Budoucnost má multicentrický mezinárodní genetický výzkum endofenotypů schizofrenie, kdy však veškeré procedury musejí být prováděny jednotně. Nalezení a vysvětlení genetického podkladu schizofrenie může sloužit její léčbě, prevenci i destigmatizaci onemocnění.

Genome-wide association studies and studies of DNA microdeletions/microduplications represent modern genetic research methods applied in schizophrenia. It is possible to find important genes and their polymorphisms by these procedures, but the findings do not clarify schizophrenia pathogenesis. That is why the genetic research into schizophrenia endophenotypes has recently been emphas ized. Endophenotype is usually a neurobiological or neuropsychological marker associated with a certain disease, heritable and life-l ong, and also occurs in healthy relatives of the patients. Neurophysiological, neuromotoric, neurocognitive, neuroanatomical and neurolo gical endophenotypes are studied in schizophrenia most frequently. In this review article, we mention the most important schizophreni a endophenotypes including their biological background, and relevant genetic findings. The problem is that schizophrenia is a cli nically heterogenous mental disorder, so the appearance of individual endophenotypes in particular subgroups may be significantly diffe rent. A multisite international genetic research into schizophrenia endophenotypes seems to be promising, but the procedures must be performed uniformly in all centers. The finding and elucidation of the genetic background of schizophrenia may help in its trea tment, prevention, and destigmatization.

• Keywords
• etiopatogeneze,
• MeSH
• Endophenotypes MeSH
• Genetic Predisposition to Disease genetics   MeSH
• Genetic Association Studies MeSH
• Genetics MeSH
• Clinical Trials as Topic MeSH
• Humans MeSH
• Schizophrenia etiology   genetics   MeSH
• Check Tag
• Humans MeSH
• Publication type
• Review MeSH

• Publication type
• Meeting Abstract MeSH

AIM: Cognitive deficit in psychotic illness is intensively studied, different cognitive subtypes have been suggested. In recent years, there has been an increase in the number of studies in patients with schizophrenia and their relatives searching for endophenotypes of the disease. The aim of our study was to investigate cognitive performance and cognitive subtypes in the siblings of the patients. METHODS: Four groups of subjects were included: patients with a first episode of psychotic illness, the siblings of these patients, and two control groups. All the study subjects (N = 84) had a battery of neuropsychological tests that measured basic cognitive domains - memory, executive functions, attention, visual-spatial skills, language skills and psychomotor speed - administered to them. The data were assessed with pairwise t-tests for group comparisons. The siblings were distributed into three groups according to their cognitive performance: non-deficit, partial deficit, and global deficit. Subsequently, the patients were assigned into three groups corresponding to their siblings' performance. RESULTS: Our results revealed attenuation of abstract thinking in the siblings compared to the controls. As expected, the patients showed impairment across all cognitive domains. The patients and siblings demonstrated similar profiles in each subtype, in the severity of their impairment, and in their patterns of cognitive performance. CONCLUSIONS: Our results suggest that the cognitive profile can be considered as an endophenotype of psychotic disorders.

• MeSH
• Endophenotypes MeSH
• Cognition MeSH
• Humans MeSH
• Neuropsychological Tests MeSH
• Schizophrenia * diagnosis   MeSH
• Siblings MeSH
• Check Tag
• Humans MeSH
• Publication type
• Journal Article MeSH
• Research Support, Non-U.S. Gov't MeSH

Endofenotypy jsou heritabilní znaky spojené s nemocí, nezávislé na stavu a sdílené nemocnými a zdravými příbuznými. Identifikace jedinců ohrožených vznikem psychózy může pomoci při včasné diagnostice a terapii, potenciálně i prevenci vzniku psychózy. V ČR dosud nejsou rizikové skupiny systematicky sledovány. V našich pracech s neléčenými pacienty s první epizodou schizofrenie jsme nalezli abnormity v sérových koncentracích neurosteroidů a jejich metabolitů (metabolomu). Poruchy metabolomu u zdravých příbuzných dosud nebyly studovány jako kandidátní endofenotyp. V projektu plánujeme sledovat soubor zdravých sourozenců pacientů s první epizodou psychózy. Porovnáním s pacienty a zdravou populací identifikujeme endofenotypy psychotického onemocnění, specificky budeme zkoumat metabolom, kognitivní funkce, neuroimunitní, morfologické a funkční abnormity (protilátky, MRI, spektroskopie, EEG). V prospektivním sledování souboru zdravých sourozenců budeme studovat míru konverze do psychózy.; Endophenotypes are heritable markers associated with illness, state-independent and shared among patients and their healthy relatives. To identify individuals at risk of psychosis may help in early diagnosis and treatment, and potentially contribute to prevention of psychotic disorders. So far, in the Czech Republic, at-risk population has not been systematically studied. We have previously found in drug-naive first-episode schizophrenia patients abnormal plasma levels of neurosteroids and their metabolites (metabolome). Metabolome abnormalities in healthy relatives of patients have not been yet investigated as a candidate endophenotype. In our research project, we propose to study a sample of healthy siblings of first-episode psychosis patients. Comparison with patients and healthy population, we may identify psychotic endophenotypes, specifically metabolome, cognitive functions, neuroimmune, structural, and functional abnormalities (antibodies, MRI, spectroscopy, EEG). In a prospective follow-up, we will study rate of conversion into psychosis.

• MeSH
• Early Diagnosis MeSH
• Endophenotypes MeSH
• Cognition MeSH
• Metabolome MeSH
• Neuroimaging MeSH
• Psychotic Disorders diagnosis   genetics   MeSH
• Risk Factors MeSH

• Conspectus
• Patologie. Klinická medicína
• NML Fields
• genetika, lékařská genetika
• psychiatrie
• NML Publication type
• závěrečné zprávy o řešení grantu AZV MZ ČR