•The patient with an SLC6A1 mutation, typically linked to disorders like epilepsy and autism, exhibited symptoms consistent with schizophrenia and bipolar disorder.•The patient's polygenic risk score ...was aligned with both schizophrenia and bipolar disorder, despite no family history of psychiatric disorders.•The study contributed to ongoing discussion of the importance of GABAergic processes in schizophrenia's etiology.
Abstract Background Affective syndrome is thought to be a key feature that differentiates schizophrenia from schizoaffective disorder (SA) and bipolar disorder with psychotic features (BDP). However ...genetic underpinnings of these differences remain unresolved. Objectives We compared clinical variables of affective psychoses (SA, BDP and schizophrenia with affective symptoms (AFF SCZ)) and schizophrenia without affective symptoms (non-AFF SCZ) and searched for a genetic variant that may differentiate affective psychosis from non-AFF SCZ. Methods A total of 2677 subjects, including 831 patients with affective psychosis, 785 patients with non-AFF SCZ and 1061 healthy controls, were used. Clinical symptoms were assessed with the PANSS. The sample was genotyped for 5-HTTLPR polymorphism of the serotonin transporter gene. Results The diagnostic groups differed significantly on demographic and clinical variables. The percentage of men was higher, the current age and age at illness onset were lower in non-AFF SCZ and SA compared to AFF SCZ and BDP. The severity of positive and negative symptoms decreased significantly from group to group in the following manner: non-AFF SCZ>AFF SCZ>SA>BDP. There was the association between 5-HTTLPR polymorphism and affective psychosis (p=0.01). The frequency of the SS genotype was higher in the affective psychosis group compared to non-AFF SCZ and controls. No differences in the genotype distribution were identified between the non-AFF SCZ group and controls. Limitations Difficulties in the differentiation between non-AFF SCZ and AFF SCZ or SA and between AFF SCZ and SA due to uncertain diagnostic boundaries between these conditions. Conclusions SA is intermediate between non-AFF SCZ and BDP in the severity of positive and negative symptoms. The first episode patients, carriers of the SS genotype have a higher risk of developing affective psychosis than non-AFF SCZ. This finding carries implications for the prognosis of psychosis outcomes in the first-episode patients.
IntroductionElevated levels of lipopolysaccharide (LPS) in circulation support chronic inflammation, which is involved in the pathological process in the brain and may be a contributing factor to ...treatment resistance in schizophrenia.ObjectivesTo compare inflammatory markers and indicators of systemic endotoxemia (SE) in patients with treatment-resistant schizophrenia and in those with a good response to treatment.MethodsThe study involved 34 patients with schizophrenia (27±7,5 years) (F20) in an acute psychotic state: 15 patients with TRS (non-responders), 19 patients responded to treatment with reduced symptoms (responders). The markers of systemic inflammation (leukocyte elastase (LE) and a1-proteinase inhibitor (α1-PI) activity, CRP concentration, antibodies (Abs) to S100B and myelin basic protein) and the indicators of SE (LPS level and Abs to LPS) were determined in the blood of patients.ResultsThe responders showed a significant increase in LE and α1-P1 activity (p<0.001), CRP concentration (p<0.05), and Abs to neuroantigens (p<0.05) compared to controls. LPS levels did not differ from control values. In non-responders, a moderate increase in LE and α1-PI activities (p<0.05) and a significant increase in CRP concentration (p=0.01) were accompanied by no significant differences in Abs to neuroantigens. These patients had elevated LPS level and Abs to LPS deficiency compared with both responders (p<0.01) and controls (p<0.05).ConclusionsThe identified spectra of systemic inflammation markers, elevated LPS level, and insufficient anti-endotoxin immunity in patients with treatment-resistant schizophrenia may be related to endotoxin tolerance. Further research in this field can help develop new approaches to overcoming resistance to therapy in patients with schizophrenia.Disclosure of InterestNone Declared
Objectives
. To establish the developmental features, family history, social adaptation, and structure of early psychopathological disorders in pediatric patients with schizotypal disorder (STD) and ...their relationship with the manifestation and clinical structure of the disease.
Materials and methods.
The study included 150 patients aged 7–16 years with a diagnosis of STD, of whom 48 were female and 102 were male. Five groups of patients were identified on the basis of the age of onset of the first stable psychopathological disorders prior to diagnosis of STD: up to three years (
n
= 38), 4–6 years (
n
= 36), 7–10 years (
n
= 15), 11–13 years (
n
= 41) and 14–16 years (
n
= 20). Clinical-psychopathological, clinical-historical, neurological, pathopsychological, psychometric, and statistical investigation methods were used.
Results.
A high frequency of deviations from normal values of indicators in early psychomotor development was found (in 99 patients, 65%). Delayed mental development was observed in 23 patients (15%) and dissociation in mental development – in 62 patients (41%). Impairments were significantly more frequent in groups with onset of psychopathological disorders at age up to six years; simultaneous impairments in three domains – emotional, motivational and volitional were more common (38%) than in the fourth group (13%). Groups 1 and 2 showed deficit in intellectual development. High performance in the primary grades was observed in 16% of patients in group 1 vs. 60% in group 5. The diagnosis of schizotypal personality disorder was significantly more commonly (66%) diagnosed in patients of group 1, while the psychopathic variant of STD was diagnosed at age 7 to 13 years and the neurosis-like variant had a clear tendency to become more frequent with increasing age.
Conclusions.
The age of onset and the duration of the persistence of psychopathological disorders determine the level of negative changes formed at the stage of disease preceding onset of distinct clinical symptoms of STD, while age at the time of manifestation of disease affects the predominant positive disorders.
To identify the deficit in willingness to expend effort and its association with negative symptoms in the high-risk for psychosis (CHR) group.
The study included young men: 45 patients, who met CHR ...criteria and were treated for a depressive episode, and 15 controls. All subjects completed a modified version of the Effort Expenditure for Rewards Task (EEfRT). The CHR group was assessed with the SOPS, SANS and HDRS at the beginning and at the end of treatment. EEfRT was performed only at the end of treatment.
The CHR group was significantly less likely to choose high effort tasks across reward probability and magnitude levels compared with the control group (all
0.001). No significant correlations were found between the rate of selecting the high effort task and the negative syndrome domains of amotivation and diminished expression. The subgroups of CHR with stable and transient (i.e., with a reduction >50% during treatment) negative symptoms, which were identified by a cluster analysis, did not differ in the willingness to expend effort.
The study confirmed a decrease in the willingness to expend effort in the CHR group; however, this deficit was only weakly correlated with negative symptoms and persisted after the symptoms reduction during treatment, which requires future studies to investigate mechanisms underlying impaired effort expenditure for rewards in CHR.
In patients with schizophrenia, the thermal balance of the cerebral cortex was studied by means of microwave radiothermometry method and compared with the markers of systemic inflammation and ...clinical features of the disease course during therapy. Low temperature heterogeneity of the cerebral cortex was associated with an increase in the activity of inflammatory markers in the blood and, in most cases, with a positive response to therapy. High temperature heterogeneity of the cerebral cortex was typical of patients with insufficient activity of the inflammatory proteolytic system, high levels of antibodies to brain antigens, a more severe course of the disease and, in most cases, with resistance to therapy. A conclusion was made about the diagnostic value of the study of the thermal balance of the brain in patients with schizophrenia.
With the aim of systematizing scientific data in the current Russian and foreign literature on the efficacy of biofeedback (BF) in the treatment of patients with depressive disorders and the clinical ...efficacy and prospects for use of BF in psychiatric practice, the MEDLINE/PubMed and eLibrary databases were searched with the keywords “biofeedback,” “depression,” “therapy for depression,” “electroencephalogram,” and “non-drug methods for treating depression” and scientific publications from 2013 to 2023 were analyzed along with relevant references cited in the articles analyzed. The BF method has definite therapeutic potential for the treatment of depression. The method can be used to augment therapy when therapeutic effects are insufficient, when patient compliance is low, when tolerance of psychopharmacotherapy is poor, and when residual symptoms are present after pharmacological treatment. The method provides correction of psychoemotional state, improves the balance between the parasympathetic and sympathetic branches of the autonomic nervous system, and contributes to a more sustainable clinical effect. At the same time, further studies are needed with larger patient cohorts from a variety of nosological groups and with analysis of the comparability of the effects of different BF protocols.
Introduction Immunological study of late stages of schizophrenia manifesting in young adult age is of considerable interest for clarification of pathogenetic patterns of the disease and optimization ...of further treatment of patients. Objectives To evaluate the relationship between the spectrum of inflammatory markers and psychopathological symptoms in patients with juvenile schizophrenia in a long-term follow-up study. Methods 34 patients with schizophrenia (F20) first manifested at the age of 16-25 years were followed-up for 20-25 years. The mean age of the patients at the time of follow-up study was 46.7±3.2 years. PANSS and PSP scales were used to quantify the severity of psychopathological symptoms. The control group consisted of 20 healthy people. Plasma immune parameters included leukocyte elastase (LE) and α1-proteinase inhibitor (α1-PI) activity, and antibodies to S100B and myelin basic protein. Results Three types of juvenile schizophrenia follow-up outcomes were identified. The immunological heterogeneity of the types allowed us to distinguish groups of patients differing in the level of inflammatory activation. There were a significant increase in LE and α1-PI in patients of the first type (with a predominance of personality dynamics), a significant increase in α1-PI in patients of the second type (with actual negative disorders) compared to controls, and no significant differences with controls in LE and α1-PI in patients of the third type (with relevant positive and negative disorders). Conclusions Residual psychopathological symptoms observed in the late stages of juvenile schizophrenia may be due to both low/moderate inflammation and genetic mechanisms. Disclosure of Interest None Declared
Monocyte activation is consistently reported in patients with schizophrenia (SZ). We aimed to study the ultrastructure of monocytes and monocyte production of IL-1β in drug-free patients with SZ and ...controls. Monocytes from young (18–30 y.o.) healthy and SZ men in relapse were studied. Electron microscopy and morphometry were applied to estimate areas of monocytes, volume density (Vv), areas, and number of organelles. The production IL-1β by monocytes was estimated by the ELISA method. Group differences were examined using ANCOVA. Pearson’s correlation coefficients were used to examine the effects of possible confounding variables. Correlation analyses were applied to detect the relationships between the parameters of monocytes measured and between the parameters measured and the IL-1β production. Area of nucleolus, Vv and area of mitochondria and lysosomes, and the number of lysosomes were significantly increased in patients as compared to controls. Area of mitochondria was correlated significantly with Vv and area of lysosomes, and the number of lysosomes was significantly correlated with area of monocyte and Vv of vacuoles only in the control group. The production of IL-1β by monocytes was higher in patients than in controls (
p
= 0.01) and was correlated with Vv of lysosomes (
r
= 0.68,
p
= 0.04) and area of lysosomes (
r
= 0.78,
p
= 0.013). The data provide new evidence for over activation of monocytes in SZ and disturbed metabolic relationships between lysosomes, mitochondria, and vacuoles.
To personalize pharmacotherapy with aripiprazole in patients with schizophrenia via therapeutic drug monitoring (TDM).
TDM of aripiprazole (ARI) and its active metabolite dehydroaripiprazole (DHA) ...was performed for patients diagnosed with schizophrenia (ICD-10 F20.00; F20.01; F20.02). Thirty-six parameters were assessed. To carry out TDM, the method of high-performance liquid chromatography with mass spectrometry was chosen employing a validated method.
TLM was performed in a group of young patients: 26.5±10.1 years old, average weight 77.2±16.2 kg, average PANSS score 81.4±21.4, UKU score 14.5±3.9. An average ARI concentration was 18.4±7.9 mg, serum ARI concentration 417.9±362.4 ng/ml, serum DHA concentration 117.5±116.1 ng/ml and the total concentration 535.4±478.5 ng/ml. Equations of correlation dependences of concentration on dose are obtained for ARI and DHA.
The results show the significant metabolism of ARI. A combined determination of the main substance and its active metabolite DHA in the patient's blood serum is advisable for correct assessment of the TLM result in patients with mental diseases.
