Association of OXTR, AVPR1a, LNPEP, and CD38 Genes' Expression with the Clinical Presentation of Autism Spectrum Disorder.

Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder that affects social interactions, communication, and behavior. Although the predominant genetic predisposition to ASD seems beyond doubt, its exact nature remains unclear. In the context of social cognition disorders and the basis of ASD, the oxytocinergic and vasopresynergic systems arouse great interest among researchers. The aim of the present study was to analyze gene expression levels for oxytocin and vasopressin receptors, as well as CD38 protein and oxytocinase, in the context of the clinical picture of autism spectrum disorders. The study included 90 people, of whom 63 were diagnosed with ASD based on anamnesis, mental status testing, and the ADOS-2 protocol. The results obtained in the presented study indicate that the balance between the levels of expression of the CD38 gene and the oxytocinase gene plays a key role in the risk and clinical presentation of ASD. In a hypothetical scenario, an imbalance in the expression of CD38 and LNPEP could potentially lead to alterations in the concentrations of oxytocin and vasopressin. At the same time, the most frequently studied genes-AVPR1a and OXTR-seem to be at best of marginal importance for the risk of ASD.

Longitudinal study on novel neuropeptides phoenixin, spexin and kisspeptin in adolescent inpatients with anorexia nervosa - association with psychiatric symptoms.

OBJECTIVES: It is hypothesized that novel neuropeptides such as phoenixin (PNX), spexin (SPX), and kisspeptin (KISS) are involved in the pathogenesis of eating disorders. The study presented here analyzed neuropeptide concentrations during the course of anorexia nervosa (AN) and aimed to correlate those values with anthropometric and psychometric measurements. METHODS: A longitudinal study was carried outin 30 AN adolescent patients and 15 age-matched healthy female controls. Selected neuroprotein serum levels were analyzed in malnourished patients (accAN) and following partial weight recovery (norAN), and these values were compared with the control group. RESULTS: In accAN patients, decreased serum PNX levels were detected while SPX serum concentrations were lower in the accAN and norAN patients. No differences were observed in KISS concentrations in all studied groups. CONCLUSIONS: In malnourished adolescent inpatients with AN, serum PNX and SPX level were decreased. The partial weight recovery normalized PNX concentrations but failed to normalize SPX levels. Therefore these two neuropeptides might be crucial for the etiology and course of the AN. The KISS levels did not change in the course of AN. The PNX levels were associated with some symptoms of eating disorders which may indicate its potential contribution in the regulation of emotions and behaviors in AN.

Anorexia nervosa and juvenile lupus erythematosus in a 16-year-old female patient - common disease origin or random coincidence?

Adolescence is a period in which eating disorders and juvenile systemic lupus erythematosus are typically diagnosed. The coexistence of both disorders prompts the search for a common aetiology. In this paper, we present a case of a 16-year-old girl with life-threatening anorexia nervosa followed by clinical and immunological manifestations of systemic lupus erythematosus. The severity of the symptoms of anorexia nervosa resulted in significant delay in proper diagnosis of the concomitant systemic disease which had already been active. The administration of immunosuppressive treatment resulted in decreased lupus activity and resolution of the symptoms of anorexia nervosa.Being affected by one severe and chronic disease does not preclude the coexistence of another disease of different aetiology. However, such coexistence may suggest a common pathophysiology. Many authors have indicated a possible link between anorexia nervosa and many autoimmune disorders. Currently, modern genetic techniques have confirmed a significant correlation between these disorders. This issue needs further investigation and may be helpful in arriving at the final diagnosis in similar cases.

Risk Factors for Noncompliance with Antipsychotic Medication in Long-Term Treated Chronic Schizophrenia Patients.

BACKGROUND: The attitudes of schizophrenic patients toward medications directly impact the treatment compliance. Although noncompliance represents a serious concern in long-term schizophrenia treatment, a detailed information on the factors that impair compliance is still limited. The present study aims to assess the factors related to noncompliance with antipsychotics agents, in long-term treated chronic paranoid schizophrenia patients. SUBJECTS AND METHODS: Two groups of such patients (total number n=162) were analyzed and compared: 1). patients with symptomatic remission on haloperidol (n=32), clozapine (n=40) or olanzapine (n=45), and 2). drug resistant patients (n=45). The mean duration of the disease was 19.3 years. RESULTS: Altogether, in our patient sample, a better drug attitude was found in the olanzapine and clozapine groups. Our findings have also revealed that worse attitude toward antipsychotics correlated with an earlier onset of schizophrenia, younger patient age, shorter duration of the disease, higher burden of symptoms, treatment with a typical antipsychotics, and higher severity of akathisia. CONCLUSION: Our results suggest that detecting factors that influence the patient's attitude toward medications might be helpful for designing targeted educational strategies in chronic schizophrenia patients (particularly those with the high risk of noncompliance), and further trials are warranted to explore this topic.

The Relation Between Emotional Intelligence and Internet Addiction in Katowice High School Students.

BACKGROUND: Emotional intelligence (EI) is described as the capacity to be aware of, control, and express one's emotions, and to handle interpersonal relationships judiciously and empathetically. It is considered as one of the most important predictors of success, quality of relationships, and overall happiness. Dynamically changing environment of the youth and young adults in recent years may influence their EI development, affecting their lives significantly. The purpose of this study was to analyse the way how the Internet is used by high school students, to determine the amount of time they spend on the Internet, identify the level of EI and to explore if there is any correlation between those factors. SUBJECTS AND METHODS: 1450 high school students from Katowice, at the age from 18 to 21 years took part in an anonymous survey consisting of three parts: The Trait Emotional Intelligence Questionnaire - Short Form (TEIQue-SF), Internet Addiction Test and authorial test giving information about the way of spending time online. The questionnaires were collected from May 2018 to January 2019. RESULTS: 1.03% of the respondents fulfilled the Internet addiction criteria. Students at risk for addiction (33.5%) turned out to be a larger group. A statistically significant correlation between TEIQue-SF and Internet Addiction Test score (P<0.0001, r=-0.3308) was observed. Another significant correlation was found between TEIQue-SF score and amount of time spend on the Internet (p<0.0001, r=-0.162). CONCLUSION: A significant part of high school students used Internet excessively. Such behaviours were positively correlated with lower EI test results.

Analysis of facial expressions in patients with schziophrenia, in comparison with a healthy control - case study.

INTRODUCTION: Deficits in area of communication, crucial for maintaining proper social bonds, may have a prominent adverse impact on quality of life in patients with schizophrenia. Social exclusion, lack of employment and deterioration of family life, may be consequences of aggravated social competencies, caused by inability to properly exhibit and interpret facial expressions. Although this phenomenon is known since first clinical descriptions of schizophrenia, lack of proper methodology limited our knowledge in this area. Aim of our study was to compare facial expressivity of the patient with schizophrenia, and the healthy individual. METHODS: 47-years old patient suffering from schizophrenia, and 36-years old healthy individual were invited to participate in our study. They underwent the examination in Human Facial Modelling Lab in Polish-Japanese Institute of Information Technology in Bytom (Silesia, Katowice). Both participants were presented with two video materials, first one contained different facial expressions, which they had to imitate. Second one a part of comedy show, during which spontaneous reactions were recorded. Acquisition of facial expressions was conducted with marker-based technology of modelling. Obtained data was analyzed using Microsoft Excel. RESULTS AND CONCLUSIONS: An overall facial expression intensity, expressed as an average value of distances traveled by markers during shifts from neutral position was higher in case of a healthy participant during both part of the study. The difference was especially visible in case of an upper half of the face. Utilization of marker-based methods in analysis of human facial expressions seem to be reliable and remarkably accurate.

Telepsychiatry and Virtual Reality an the Teatment of Patients with Intellectual and Developmental Disabilities.

BACKGROUND: Treatment and rehabilitation of people with intellectual and developmental disabilities is a multidisciplinary challenge, which require implementing new attitudes. The use of modern technology solutions like telepsychiatry or virtual reality may be a valuable addition to the traditional methods. OBJECTIVE: The objective of this review was to explore the usability of new technological solutions in this special population of patients. METHODS: The search in the PubMed was conducted using the following terms: (intellectual disability (Title/Abstract) OR developmental disability OR learning disorder (Title/Abstract)) AND virtual reality (Title/Abstract) OR telepsychiatry OR telemedicine OR e-mental health AND English (lang) AND (1995/01/01(PDAT): 2017/07/31(PDAT)). RESULTS: Telepsychiatry may be a useful tool in situations, when the direct access to professional assistance is limited, in solving particular problems like e.g. managing challenging behavior, also to support patients' parents and for diagnostic and educational purposes. Virtual reality can be a safe and effective method of improving different skills, developing physical fitness, and enriching the ways of spending the leisure time. CONCLUSIONS: Using modern technology is a relatively new and promising field in which new ideas may develop to support the already existing services for patients with intellectual and developmental disabilities.

The Role of Hormones and Inflammatory Markers in Cognitive Functioning of Schizophrenic Patients.

BACKGROUND: In the literature we can find evidence that immunological processes are involved the alterations of cognition in schizophrenic patients. Another factor, which may have an impact on cognitive domains in this clinical group are hormones. OBJECTIVE: The objective of this review was to explore studies, in which the role of both immunological and endocrine factors on cognitive functions in schizophrenia are analyzed. METHODS: The search of papers covering this topic in PubMed and Google Scholar was performed. RESULTS: The studies focusing on this co-relation are not numerous. The role such hormones like cortisol, insulin and sex hormones may be important in the immunomodulatory processes influencing cognition in schizophrenia. CONCLUSIONS: More studies are necessary to confirm these possible co-relations.

The assessment of orthorexia nervosa among 1899 Polish adolescents using the ORTO-15 questionnaire.

OBJECTIVE: Orthorexia nervosa (ON) is considered an eating disorder (ED), with an excessive fixation on the consumption of healthy food and an obsession with its biological purity. Since the adolescent period poses a risk for EDs, the aim of this study was to assess the prevalence of ON in a population of Polish urban adolescents and some possible contributory factors. METHOD: 1899 high school students, 992 girls and 907 boys aged 15-21 years were studied. Demographic and clinical data were collected using a validated questionnaire including information on preferred living choices, in the context of pro- and antihealth activities. The Polish version of the ORTO-15 questionnaire was used. RESULTS: The mean value of the ORTO-15 was 39.2 ± 3.6 points, with no sex difference. The main factors connected with orthorexia, according to the 'Orthorexia 33.35 and 40' definitions were excess weight, sporting activities, out-of-school activities, smoking status, working parents and a high family income. CONCLUSIONS: This study, of a large number of adolescents, showed a prevalence of ON similar to that recorded in adult populations. Since factors predisposing to ON in adolescence differ from those for other eating disorders, it is not clear whether ON should be treated as a new form of ED.

Impact of pharmacological and psychological treatment methods of depressive and anxiety disorders on cognitive functioning.

Anxiety and depressive disorders are characterized by a number of clinical symptoms like decreased mood, apathy, anhedonia and anxiety. An important element of the clinical picture is also neurocognitive impairment. The most common treatment methods for depression and anxiety are pharmacology, psychotherapy or a combination of both methods. The data from literature show that those treatment methods lead to an improvement of clinical symptoms, but they exert a possible impact on cognitive functions. However the study results referring both to the role of pharmacological treatment and psychotherapy in this domain are still inconsistent. There is an increasing number of accessible data confirming the positive effects of those clinical interventions on cognitive functioning of anxiety and depressive patients, but the interpretation is complicated because of differences in methodology as well as examined sample size and their characteristics. More studies are then needed to describe this phenomenon.

[Validation of ORTO-15 Questionnaire in the group of urban youth aged 15-21]. / Walidacja kwestionariusza ORTO-15 w grupie mlodziezy miejskiej w wieku 15-21 lat.

AIM: The aim of the study was the validation and adaptation of the ORTO-15 Questionnaire in the group of the Polish schoolgirls and schoolboys. METHODS: The study included 399 participants (15-21 years old), all of them high school students in the city of Sosnowiec. The ORTO-15 is a tool created in Italy by L.M. Donini, comprising of 15 items describing intensification of orthorexia risk (population diagnosis). The validation procedure incorporated three basic methods to be applied in the reliability analysis - the comparison of double tests with the same method, the statistical properties analysis of test items as well as analysis of the relation of test items with the general test result. Moreover, the compliance of the ORTO-15 Questionnaire results with other questionnaire focused on eating habits (EAT-26) was studied. RESULTS: The reliability analysis of the ORTO-15 Questionnaire based on repeatability of the responses presents a very good (kappa: 0.81 - 1.00 for 5 items) and a good repeatability (kappa: 0.61 - 0.80 for 10 items). The reliability analysis based on the value of the Cronbach's α reached a satisfactory level (0.7 - 0.9). A full agreement of in the occurrence of orthorexia risk and the risk of eating disorders concerned 47.2% (Kappa = 0.04; 95% CI: 0.004 - 0.09) for the Ortho-40 and 88.2% (Kappa = 0.32; 95% CI: 0.17 - 0.47) for the Ortho-35. CONCLUSIONS: The ORTO-15 questionnaire is a reliable tool to identify the risk of ON in population studies in the group of urban youth aged 15 - 21.

[Dysregulation of the mTOR signaling pathway in the pathogenesis of autism spectrum disorders]. / Dysregulacja szlaku sygnalowego mTOR w patogenezie zaburzen ze spektrum autystycznego.

Mammalian target of rapamycin (mTor) plays multiple role in central nervous system and is involved in regulation of cell viability, differentiation, transcription, translation, protein degradation, actin cytoskeletal organization and autophagy. Recent experimental and clinical studies reveal that disturbances of mTOR signaling are involved in the pathogenesis of autism spectrum disorders (ASD). This article reviews current data on the alteration in the mTOR transduction cascade, which may contribute to common neurobehavioral disorders typical for ASD. Moreover, the results of the latest experimental studies on the potential of mTOR inhibitors for the treatment of ASD are reviewed.

[Autism spectrum disorders - epidemiology, symptoms, comorbidity and diagnosis]. / Zaburzenia ze spektrum autyzmu - epidemiologia, objawy, wspólzachorowalnosc i rozpoznawanie.

In the new classification of American Psychiatric Association - DSM-5 - a category of autistic spectrum disorders (ASD) was introduced, which replaced autistic disorder, Asperger syndrome, childhood disintegrative disorder and pervasive developmental disorder not otherwise specified. ASD are defined by two basic psychopathological dimensions: communication disturbances and stereotyped behaviors, and the diagnosis is complemented with the assessment of language development and intellectual level. In successive epidemiological studies conducted in 21 century the prevalence of ASD has been rising, and currently is estimated at 1% in general population. The lifetime psychiatric comorbidity is observed in majority of patients. The most common coexisting diagnoses comprise disorders ofanxiety-affective spectrum, and in about 1/3 of patients attention deficit/ hyperactivity disorders could be diagnosed. Prodromal symptoms of ASD may emerge before 12 months of life, however reliability of diagnosis at such an early age is poor. Several screening instruments, based on the parental and/or healthcare professional assessments may be helpful in ASD detection. However, structured interviews and observation schedules remain the gold standard of diagnosis.

First onset of persistent neutropenia in patient undergoing long-term clozapine treatment after vaccination against COVID-19 and SARS-CoV-2 infection in short interval - a case report. / Pierwszorazowa uporczywa neutropenia u pacjenta przewlekle leczonego klozapina po szczepieniu przeciwko COVID-19, krótko poprzedzajacym infekcje wirusem SARS-CoV-2 ­ opis przypadku.

Clozapine is one of the most effective antipsychotic drugs, but its use is limited due to the possibility of severe side effects, such as neutropenia and agranulocytosis. The risk of these complications is the highest at the beginning of the treatment, but they can occur later, particularly when additional risk factors are present. In the described case, either COVID-19 vaccination or the infection itself led to severe neutropenia, which recurred during subsequent independent trials of other antipsychotic drugs. The paper presents the case of a 23-year-old woman diagnosed with early-onset, treatment-resistant schizophrenia who had been undergoing clozapine treatment with satisfying outcome for over 10 years. A week after the first dose of an mRNA vaccine against COVID-19, the patient developed a severe SARS-CoV-2 infection and experienced an extreme neutropenia, followed by a change of treatment. Although the patient fully recovered from the infection, the re-stabilization of her mental state remained unsatisfactory. The introduction of various newly implemented antipsychotic drugs led to partial improvement or another decline in the neutrophil count, despite discontinuing the use of clozapine. The authors discuss a few possible pathomechanisms. Based on our current knowledge, this is the first reported case of persistent neutropenia triggered by various antipsychotic drugs following exposure to SARS-CoV-2 antigens.

Alexithymia as a Risk Factor for an Internet Addiction in Adolescents and Young Adults with Autism Spectrum Disorder.

The aim of the study is to investigate the association of alexithymia with Internet addiction and autism spectrum disorders among adolescents and young adults. The links between alexithymia, ASD and other mental disorders are still a largely unexplored topic in psychiatry. An intriguing question is to what extent alexithymia can be a component of the clinical picture of ASD, and to what extent it is an independent phenomenon often co-occurring with ASD. The study group consisted of young Poles aged 11 to 35 (n = 229), including women (n = 167; 73%), men (n = 53; 23%) and non-binary people (n = 9; 4%). The following questionnaires were used in the Polish validated version as screening tools and shared online: AQ (Autism Quotient), TAS-20 (Toronto Alexithymia Scale), IAT (Internet Addiction Test). Among the subjects, 15 people admitted that they had received an official diagnosis of ASD, while 26 people showed a significantly increased severity of autistic traits on the AQ questionnaire. People with ASD who also exhibit alexithymia features are certainly more prone to problematic use of the Internet. In contrast, such a risk in people with ASD without alexithymia is comparable to the general population.

Relationship of autistic traits and the severity of fear of the COVID-19 pandemic in the general population.

Background: The aim of the study was to investigate the level of fear of the COVID-19 pandemic and to detect a possible correlation between the autistic traits and the level of fear and to learn about other factors that may affect the level of fear. Methods: The study utilised a questionnaire and was conducted online in the period from 16.02.2021 to 11.06.2021. The test group consisted of 214 respondents with an average age of 23.78 years (95%CI: 22.48 - 25.08; max: 61, min: 14) from the general population. The study used The Autism-Spectrum Quotient (AQ) questionnaire to assess the degree of autistic traits in the general population and The Fear of COVID-19 Scale, which was used to assess the level of fear of COVID-19. Results: Among the respondents, 9 people scored ≥32 on the AQ test and were considered to have a high degree of autistic traits. In multiple regression (R2 = 0.1, p<0.0001), a positive relationship between the severity of fear of COVID-19 and the autistic traits (p=0.01) and age (p<0.001) was obtained. Additionally, a second multiple regression (R2 = 0.1, p<0.000001) including the subscales of AQ was performed and a positive relationship between the severity of fear of COVID-19 and the difficulties in attention switching (p=0.0004) and age (p=0.00001) was obtained. Conclusion: People with higher autistic traits present greater fear of the COVID-19 pandemic. We suggest that it might be caused by cognitive stiffness and disorders in emotions regulation, according to the literature. The elderly also present higher levels of fear. The other variables did not affect the level of fear of the COVID-19 pandemic.

The clinical picture of bipolar affective disorders in children and adolescents hospitalized at the psychiatric ward in Sosnowiec. / Obraz kliniczny zaburzen afektywnych dwubiegunowych u dzieci i mlodziezy hospitalizowanych w oddziale psychiatrii w Sosnowcu.

OBJECTIVES: To determine the clinical picture of bipolar affective disorders (BD) in children and adolescents hospitalized at the Clinical Ward of Developmental Age Psychiatry and Psychotherapy (DAPP) in Sosnowiec, Poland. METHODS: Documentation analysis of 288 BD patients below 18 years of age. Detailed clinical and demographic data were collected and symptoms present during hospitalization were assessed. RESULTS: The mean age of illness onset was 13.6 ± 1.7 years. A total of 86.5% of the studied individuals received a first diagnosis different from BD/mania, and the average time until the proper diagnosis was 16.9 months. In 45.5% the first episode was depression with varied severity, in 29.2% a mixed episode and in 25.3% mania/hypomania. In 48.6% comorbid disorders were present. The most frequent reason for hospitalization was a mixed episode (47.6%). Among the symptoms, irritability was observed in over 80% of patients with mania or mixed episodes, but also in 60% of patients with depression. Suicidal thoughts were experienced by almost all the depression patients, 84.7% in the mixed episode and also 52.6% in mania/hypomania episode. Anxiety was mostly present in depression (40.7%) and mixed episode (22.6%), while moodcongruent delusions in depression and mania (around 20% of cases). Aggressive behaviours were manifested in around half of patients with mania and a mixed episode. CONCLUSIONS: In the studied population of children and adolescents, BD usually started with a depression episode accompanied by a high rate of comorbid disorders and in most cases there was an original misdiagnosis. Study results also point to a significant frequency of some pathological symptoms in this population.

Does the clinical picture of bipolar disorder in the pediatric population depend on sex?

BACKGROUND: In the current literature the influence of sex on the clinical presentation of the bipolar disorder (BD) in adults has been indicated. It was of the interest whether such a phenomenon is also present in the pediatric population. METHODS: The authors collected retrospective clinical data in 288 patients hospitalized on the psychiatry ward aged 10-17 years; 80.2 % females and 19.8 % males. RESULTS: No sex differences were observed in the age of onset, the time from the onset of symptoms to the diagnosis of BD, the number of symptoms during hospital stay, or family history of psychiatric disorder (U Mann-Whitney's p > 0.05). In males the most frequently recorded first episode of BD was mania or hypomania (51 %), and in females, a depressive episode (51 %). The main reason for the hospitalization in boys was episodes of mania (63 %), then mixed episodes (30 %), and depression (7 %). Whereas girls were most often hospitalized due to mixed episodes (52 %), less frequently depression (22 %), and mania (26 %). Co-morbid psychiatric disorders were found more often in boys than in girls (63 % vs 45 %; χ2p-value>0.05). The co-occurrence of the dissocial personality, borderline, tic disorders, pervasive developmental disorders and hyperkinetic disorders was different in both sexes. LIMITATIONS: The main limitations of the study are the very high proportion of female subjects and the retrospective character of the study. CONCLUSIONS: It seems that the clinical presentation of BD in the pediatric population can somewhat depend on the sex of the patients.

[Role of leptin in eating disorders--current concept]. / Rola leptyny w zaburzeniach odzywiania sie --wspólczesne poglady.

Eating disorders constitute a dynamically developing group of diseases, in which only some have well-established diagnostic criteria, e.g. anorexia nervosa or bulimia nervosa. Many symptoms of eating disorders are hard to be qualified to any known disorder from that group, and quantity and diversity of symptoms connected to eating grow systematically. It makes the work of clinicians and psychotherapists more difficult, as well as hampers communication between specialists. It is also a challenge for scientists to create new qualifications based on known and theoretical pathomechanisms connected to disruptions in food intake regulation.

[Autoaggressive behaviour with patients suffering from type 1 diabetes treated at the Clinic for Psychiatry and Psychotherapy Developmental Age--description of cases]. / Zachowania autoagresywne u pacjentek chorujacych na cukrzyce typu 1 leczonych na oddziale klinicznym psychiatrii i psychoterapii wieku rozwojowego--opis przypadków.

AIM: The aim of this study was to observe autoagressive behaviour with patients suffering from type 1 diabetes hospitalized in The Child Psychiatry Department of The Paediatric Centre in Sosnowiec. METHOD: Analysis of clinical cases, medical documentation and literature. RESULTS: Patients suffered from type 1 diabetes. On account of mental disorders they required treatment in a psychiatric ward. In the course of their hospitalization the appearance of various autoagressive behaviour were observed--the sick deliberately gave a dose of insulin improperly, apply an inadequate diet, and also self-mutilated themselves. CONCLUSIONS: Described patients by their own illness (type 1 diabetes) in a self-destructive way coped with negative emotions. Autoagressive behaviour were their way of coping with stress, communicating experienced problems to others, they also helped in reducing inner tension. Through autoagression patients express anger, guilt, shame, loneliness, inner emptiness, a lack of confidence or humiliation. The period of adolescence, female gender and the presence of chronic disease are the factors that could intensify the difficulties described.