BACKGROUND: Bipolar disorder (BD) is a complex and heterogeneous psychiatric disorder. It has been suggested that neurodevelopmental factors contribute to the etiology of BD, but a specific neurodevelopmental phenotype (NDP) of the disorder has not been identified. Our objective was to define and characterize an NDP in BD and validate its associations with clinical outcomes, polygenic risk scores, and treatment responses. METHODS: We analyzed the FondaMental Advanced Centers of Expertise for Bipolar Disorders cohort of 4468 patients with BD, a validation cohort of 101 patients with BD, and 2 independent replication datasets of 274 and 89 patients with BD. Using factor analyses, we identified a set of criteria for defining NDP. Next, we developed a scoring system for NDP load and assessed its association with prognosis, neurological soft signs, polygenic risk scores for neurodevelopmental disorders, and responses to treatment using multiple regressions, adjusted for age and gender with bootstrap replications. RESULTS: Our study established an NDP in BD consisting of 9 clinical features: advanced paternal age, advanced maternal age, childhood maltreatment, attention-deficit/hyperactivity disorder, early onset of BD, early onset of substance use disorders, early onset of anxiety disorders, early onset of eating disorders, and specific learning disorders. Patients with higher NDP load showed a worse prognosis and increased neurological soft signs. Notably, these individuals exhibited a poorer response to lithium treatment. Furthermore, a significant positive correlation was observed between NDP load and polygenic risk score for attention-deficit/hyperactivity disorder, suggesting potential overlapping genetic factors or pathophysiological mechanisms between BD and attention-deficit/hyperactivity disorder. CONCLUSIONS: The proposed NDP constitutes a promising clinical tool for patient stratification in BD.
- MeSH
- Bipolar Disorder * genetics MeSH
- Adult MeSH
- Phenotype * MeSH
- Attention Deficit Disorder with Hyperactivity genetics MeSH
- Cohort Studies MeSH
- Middle Aged MeSH
- Humans MeSH
- Young Adult MeSH
- Multifactorial Inheritance genetics MeSH
- Neurodevelopmental Disorders genetics MeSH
- Check Tag
- Adult MeSH
- Middle Aged MeSH
- Humans MeSH
- Young Adult MeSH
- Male MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
PURPOSE: Epilepsy in children is often associated with impaired quality of life, lower academic achievement, and reduced academic self-concept, as well as an increased risk of depression and anxiety. This study aims to evaluate the possible impact of comorbidities, such as learning disabilities (LD) and attention deficit hyperactivity disorder (ADHD), on these variables. METHODS: A total of 104 children with epilepsy (CWE) aged 8-15 years, attending mainstream schools, participated in the study. Of these, 45 were diagnosed with LD and/or ADHD. Participants completed the CHEQOL-25 questionnaire to assess quality of life (QoL), the SPAS questionnaire to evaluate academic self-concept, as well as inventories measuring depressive and anxiety symptoms. The data were analyzed to identify differences between subgroups with and without LD/ADHD using a two-sample t-test. Additionally, correlation analysis was conducted to identify other relevant variables influencing QoL, academic self-concept, and depressive and anxiety symptoms. RESULTS: QoL and academic self-concept were significantly poorer in CWE with LD/ADHD compared to those without comorbidities. QoL showed statistically significant associations with depressive and anxiety symptoms, and academic self-concept. While depressive symptoms levels in CWE without comorbidities align with those in the general population, CWE with LD/ADHD showed an increased association with depressive symptoms. Although anxiety symptoms were relatively strongly associated with depressive symptoms, their prevalence remains broadly comparable to that of children without epilepsy, regardless of the presence of LD/ADHD. CONCLUSION: CWE with LD/ADHD and their families may benefit from focused attention, including targeted counseling and therapeutic interventions. However, specific interventional studies are recommended, based on child-specific findings.
- MeSH
- Depression epidemiology psychology MeSH
- Child MeSH
- Mental Health * MeSH
- Epilepsy * psychology epidemiology complications MeSH
- Attention Deficit Disorder with Hyperactivity epidemiology psychology MeSH
- Comorbidity MeSH
- Quality of Life * psychology MeSH
- Humans MeSH
- Adolescent MeSH
- Learning Disabilities * epidemiology psychology MeSH
- Surveys and Questionnaires MeSH
- Self Concept * MeSH
- Anxiety epidemiology psychology MeSH
- Check Tag
- Child MeSH
- Humans MeSH
- Adolescent MeSH
- Male MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
Extrapyramídové ochorenia predstavujú heterogénnu skupinu ochorení, v mnohých prípadoch monogénne podmienenú. Najmä zásluhou technologického pokroku v oblasti sekvenovania došlo v posledných rokoch k významnému posunu diagnostických algoritmov pre túto skupinu ochorení, kde sa čoraz viac využívajú metodiky "next-generation sequencing". V prehľadovom článku je prezentovaný súčasný pohľad na genetickú diagnostiku extrapyramídových ochorení, súčasné možnosti testovania a prichádzajúce trendy so zameraním najmä na priblíženie pragmatických algoritmov testovania.
Movement disorders represent a heterogeneous group of diseases, often with a monogenic background. Especially thanks to technological progress in the field of sequencing, there has been a significant shift in diagnostic algorithms for this group of diseases in recent years, where "next-generation sequencing" methodologies are increasingly being used. The review article presents a current view of the genetic diagnostics of movement disorders, current testing options and upcoming trends, with a particular focus on pragmatic testing algorithms.
- MeSH
- Diagnosis, Differential MeSH
- Dystonia diagnosis genetics classification MeSH
- Genetic Testing methods MeSH
- Attention Deficit Disorder with Hyperactivity diagnosis genetics classification MeSH
- Humans MeSH
- Basal Ganglia Diseases * diagnosis genetics classification MeSH
- Parkinsonian Disorders diagnosis genetics classification MeSH
- High-Throughput Nucleotide Sequencing methods MeSH
- Check Tag
- Humans MeSH
- Publication type
- Review MeSH
- MeSH
- Clonidine pharmacology therapeutic use MeSH
- Child MeSH
- Adult MeSH
- Duloxetine Hydrochloride pharmacology therapeutic use MeSH
- Guanfacine pharmacology therapeutic use MeSH
- Attention Deficit Disorder with Hyperactivity * drug therapy MeSH
- Humans MeSH
- Drug Discovery MeSH
- Viloxazine pharmacology therapeutic use MeSH
- Check Tag
- Child MeSH
- Adult MeSH
- Humans MeSH
- Publication type
- Newspaper Article MeSH
- News MeSH
- MeSH
- Child MeSH
- Epidemiologic Studies MeSH
- Prenatal Nutritional Physiological Phenomena MeSH
- Attention Deficit Disorder with Hyperactivity * etiology MeSH
- Humans MeSH
- Dietary Fiber * deficiency MeSH
- Pregnancy MeSH
- Check Tag
- Child MeSH
- Humans MeSH
- Pregnancy MeSH
- Female MeSH
- Publication type
- Newspaper Article MeSH
- News MeSH
- MeSH
- Child MeSH
- Adult MeSH
- Attention Deficit Disorder with Hyperactivity rehabilitation MeSH
- Cognition Disorders * rehabilitation MeSH
- Humans MeSH
- Motor Disorders * rehabilitation MeSH
- Cerebral Palsy * rehabilitation MeSH
- Spinal Cord Diseases * rehabilitation MeSH
- Gait Disorders, Neurologic * rehabilitation MeSH
- Parkinson Disease * rehabilitation MeSH
- Brain Injuries * rehabilitation MeSH
- Stroke Rehabilitation * methods MeSH
- Multiple Sclerosis * rehabilitation MeSH
- Aged MeSH
- Aging MeSH
- Accidental Falls prevention & control MeSH
- Check Tag
- Child MeSH
- Adult MeSH
- Humans MeSH
- Aged MeSH
- Publication type
- Review MeSH
Cíl: V současné době je problematika poruch duševního zdraví u dětí v centru pozornosti, také v souvislosti s plnými kapacita- mi psychiatrických ambulancí pro děti a dorost, ale také adiktologických ambulancí a dětských psychiatrických klinik. V souvislos- ti s předpoklady zhoršujícího se psychického stavu dětí byla provedena retrospektivní studie za účelem vyhodnocení situace v ob- dobí let 2016–2022. Cílem výzkumu bylo zhodnocení vývoje stavu duševního zdraví u dětských klientů adiktologické ambulance se zaměřením na identifikaci rizikových faktorů ovlivňujících výskyt disociačních poruch a traumat u sledovaných dětí v souvislos- ti se závislostním chováním v letech 2016–2022. Metody: V období 2016–2022 byla ve spolupráci s rodiči a dětskými psychiatry každoročně získána anamnestická data od 30 vybraných klientů adiktologické ambulance pro děti a dorost. Respondenti zařazení do studie byli vybráni metodou náhodného výběru ze všech klientů ambulance v daném roce. Za celé sledované období se tedy jednalo o 210 respondentů. Získaná data byla statisticky zpracována a vyhodnocena, k testu trendu byl použitý model lineární regrese a pro vícerozměrnou analýzu vlivu faktorů na výskyt disociované poruchy a závislostního chování na internetu (IAD) u dětí byla použita logistická regrese. Poměr šancí (OR) byl použit jako ukazatel míry asociace kategoriálních proměnných. Testováno bylo na hladině významnosti 0,05. Výsledky: Děti, u kterých bylo diagnostikováno psychiatrické onemocnění v dětství a psychiatrická zátěž v anamnéze rodičů, pro- kazují významný koeficient rizika pro výskyt disociativní poruchy. U dětí s rizikovým faktorem psychiatrické anamnézy bylo 6,3ná- sobně zvýšené riziko výskytu disociativní poruchy ve srovnání s dětmi bez psychiatrické anamnézy. Statisticky významný faktor nejvíce spojený s rizikem výskytu IAD je užívání nelegálních návykových látek. Děti, které užívaly nelegální návykové látky, včet- ně problematického užívání psychofarmak, měly 15,1násobné zvýšení rizika výskytu IAD ve srovnání s dětmi, které nelegální ná- vykové látky neužívaly. Významné zvýšení rizika nastává u chlapců, u dětí s traumatem v dětství, s poruchami chování a ADHD (attention deficit hyperactivity disorder – porucha pozornosti s hyperaktivitou). Závěr: Ke změně lze přispět v úzké spolupráci odborníků z oborů dětské psychiatrie, psychologie, adiktologie a psychoterapie, ale zejména spoluprací s rodiči v rámci rodinné terapie.
Aim: Mental health disorders in children have recently been drawing an increasing amount of attention, also in connection with the full capacities of psychiatric outpatient clinics for children and adolescents, as well as addiction outpatient clinics and children's psychiatric clinics. In line with assumptions that the mental state of children deteriorates, a retrospective study was conducted to evaluate the situation from 2016 to 2022. The aim of the research was to evaluate the state of mental health of child clients of the addiction clinic with a focus on the identification of risk factors influencing the occurrence of dissociation disorders in monitored children in connection with addictive behaviour and development in the years 2016-2022. Methods: During the period from 2016 to 2022, in cooperation with parents and child psychiatrists, anamnestic data were obtained annually from 30 selected clients of the addiction clinic for children and adolescents. Respondents included in the study were selected by random sampling from all clinic clients in a given year. For the entire monitored period, there were 210 respondents. The collected data were statistically processed and evaluated. A linear regression model was used for trend testing, and logistic regression was employed for the multivariate analysis of factors influencing the occurrence of dissociative disorder and Internet Addiction Disorder (IAD) in children. The odds ratio (OR) was used as an indicator of the association between categorical variables. The significance level was set at 0.05. Results: Children who were diagnosed with a psychiatric illness in childhood and the psychiatric burden of the parents' anamnesis show a significant risk coefficient for the occurrence of dissociative disorder. Children with a risk factor of psychiatric history had a 6.3-fold increased risk of developing a dissociative disorder compared to children without a psychiatric history. The most statistically significant factor associated with the risk of IAD is the use of illegal addictive substances. Children who used illegal addictive substances, including problematic use of psychopharmaceuticals, IAD compared to children who did not use illegal addictive substances. A significant increase in risk also occurs in boys, children with childhood trauma, behavioural disorders, and ADHD (attention deficit hyperactivity disorder). Conclusion: The change can be contributed to by the close cooperation of experts from the fields of child psychiatry, psychology, addictology, and psychotherapy, but especially by cooperation with parents as part of family therapy.
- MeSH
- Dissociative Disorders * diagnosis etiology psychology MeSH
- Child MeSH
- Mental Health MeSH
- Attention Deficit Disorder with Hyperactivity diet therapy etiology psychology MeSH
- Humans MeSH
- Adolescent MeSH
- Adverse Childhood Experiences MeSH
- Internet Addiction Disorder diagnosis epidemiology etiology MeSH
- Child Behavior Disorders diagnosis etiology psychology MeSH
- Substance-Related Disorders diagnosis prevention & control psychology MeSH
- Surveys and Questionnaires MeSH
- Retrospective Studies MeSH
- Check Tag
- Child MeSH
- Humans MeSH
- Adolescent MeSH
INTRODUCTION: The Attention Deficit Hyperactivity Disorder (ADHD) causes serious interpersonal problems from childhood to adulthood, one of them being problematic social functioning. This phenomenon in ADHD should be associated with impairments in the Theory of Mind (ToM). Therefore, understanding the neural correlates of the ToM could be crucial for helping individuals with ADHD with their social functioning. Thus, we aimed to review published literature concerning neuroanatomical and functional correlates of ToM deficits in children and adolescents with ADHD. METHODS: We reviewed studies published between 1970 and 2023. In accordance with PRISMA guidelines, after data from three databases were collected, two authors (LN and PM) independently screened all relevant records (n=638) and consequently, both authors did the data extraction. The quality of the included studies (n=5) was measured by a modified version of The Newcastle-Ottawa Scale and by measures specific for our study. This systematic review was registered on PROSPERO (CRD42020139847). RESULTS: Results indicated that impairments in performing of the ToM tasks were negatively associated with the grey matter volume in the bilateral amygdala and hippocampus in both, ADHD and control group. In EEG studies, a significantly greater electrophysiological activity during ToM tasks was observed in the, frontal, temporal, parietal and occipital lobes in participants with ADHD as compared to healthy subjects. CONCLUSION: More research is needed to explore the ToM deficits in children with ADHD. Future research might focus on the neural circuits associated with attention and inhibition, which deficits seems to contribute to the ToM deficits in children and adolescents with ADHD.
- MeSH
- Child MeSH
- Electroencephalography methods MeSH
- Attention Deficit Disorder with Hyperactivity * physiopathology MeSH
- Humans MeSH
- Adolescent MeSH
- Brain physiopathology MeSH
- Theory of Mind * physiology MeSH
- Check Tag
- Child MeSH
- Humans MeSH
- Adolescent MeSH
- Publication type
- Journal Article MeSH
- Review MeSH
- Systematic Review MeSH
Background: ADHD syndrome is still at the forefront of discussed diagnoses in children, and is a continuing phenomenon even into adulthood. At the same time, the development of substance and non-substance addictions at an early age is a constant problem. The phenomenon of behavioral disorders, hyperactivity, impulsivity, and inattention, resulting from the immature development of brain centers in children, often brings with it persecution from pedagogues and educators. For both children and adults, there is no suggested therapeutic procedure, except for medication, although it is possible to work with the given disorder with an appropriate bio-psycho-social approach. Subsequently, the developmental deficit persists into adulthood.Objective: The main objective of the work was to reduce the stigmatization of addicted persons and to point out all developmental factors leading to addictive behavior, one of which is ADHD and its manifestations. One of the other goals is to draw attention to the importance of therapy for people with ADHD and to reduce medication to a minimum, if this can be achieved, and at the same time to emphasize this developmental deficit in the recruitment of professional soldiers.Methods: It was a retrospective collection and analysis of anamnestic data from medical records, and further data was obtained through a questionnaire survey. The data was evaluated based on established scales. The method of surveying the analyzed data by the coefficient in the maximum value. The resulting values were obtained by summing the points within the individual risk factors.Results: The highest score in the evaluation of the answers, and therefore the highest influence on the later use of addictive substances, had a psychiatric illness in childhood (point evaluation 351), in second place with a number of 295 points was a serious illness in childhood as a significant risk factor, followed by learning disabilities (277 points) and a low level of sports skills.Conclusion: The information obtained should initiate an increase in attention in the framework of preventive examinations in children, to the expansion of screening in the framework of gross motor skills, movement skills, and the implementation of therapeutic methods through frequent training in connection with the development of brain centers. At the same time, attention should be focused on the treatment of children with ADHD by amphetamine-containing substances, which should have a decreasing tendency and expand efforts to implement therapeutic methods and knowledge of preventive medicine, such as sufficient exercise, healthy diet, and calm family background, which will lead to improved relationships in families to achieve a reduction in anxiety states in children.
- MeSH
- Mental Disorders complications MeSH
- Attention Deficit Disorder with Hyperactivity complications MeSH
- Humans MeSH
- Behavior, Addictive etiology MeSH
- Military Personnel psychology MeSH
- Substance-Related Disorders * etiology MeSH
- Surveys and Questionnaires MeSH
- Risk Factors MeSH
- Check Tag
- Humans MeSH
- Male MeSH
- Female MeSH