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OBJECTIVE: Although the significance of the general factor of psychopathology (p) is being increasingly recognized, it remains unclear how to best operationalize and measure p. To test variations in the operationalizations of p and make practical recommendations for its assessment, we compared p-factor scores derived from four models. METHODS: We compared p scores derived from principal axis (Model 1), hierarchical factor (Model 2), and bifactor (Model 3) analyses, plus a Total Problem score (sum of unit-weighted ratings of all problem items; Model 4) for parent- and self-rated youth psychopathology from 24 societies. Separately for each sample, we fitted the models to parent-ratings on the Child Behavior Checklist for Ages 6-18 (CBCL/6-18) and self-ratings on the Youth Self-Report (YSR) for 25,643 11-18-year-olds. Separately for each sample, we computed correlations between p-scores obtained for each pair of models, cross-informant correlations between p-scores for each model, and Q-correlations between mean item x p-score correlations for each pair of models. RESULTS: Results were similar for all models, as indicated by correlations of .973-.994 between p-scores for Models 1-4, plus similar cross-informant correlations between CBCL/6-18 and YSR Model 1-4 p-scores. Item x p correlations had similar rank orders between Models 1-4, as indicated by Q correlations of .957-.993. CONCLUSIONS: The similar results obtained for Models 1-4 argue for using the simplest model - the unit-weighted Total Problem score - to measure p for clinical and research assessment of youth psychopathology. Practical methods for measuring p may advance the field toward transdiagnostic patterns of problems.
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BACKGROUND: It is unknown how much variation in adult mental health problems is associated with differences between societal/cultural groups, over and above differences between individuals. METHODS: To test these relative contributions, a consortium of indigenous researchers collected Adult Self-Report (ASR) ratings from 16 906 18- to 59-year-olds in 28 societies that represented seven culture clusters identified in the Global Leadership and Organizational Behavioral Effectiveness study (e.g. Confucian, Anglo). The ASR is scored on 17 problem scales, plus a personal strengths scale. Hierarchical linear modeling estimated variance accounted for by individual differences (including measurement error), society, and culture cluster. Multi-level analyses of covariance tested age and gender effects. RESULTS: Across the 17 problem scales, the variance accounted for by individual differences ranged from 80.3% for DSM-oriented anxiety problems to 95.2% for DSM-oriented avoidant personality (mean = 90.7%); by society: 3.2% for DSM-oriented somatic problems to 8.0% for DSM-oriented anxiety problems (mean = 6.3%); and by culture cluster: 0.0% for DSM-oriented avoidant personality to 11.6% for DSM-oriented anxiety problems (mean = 3.0%). For strengths, individual differences accounted for 80.8% of variance, societal differences 10.5%, and cultural differences 8.7%. Age and gender had very small effects. CONCLUSIONS: Overall, adults' self-ratings of mental health problems and strengths were associated much more with individual differences than societal/cultural differences, although this varied across scales. These findings support cross-cultural use of standardized measures to assess mental health problems, but urge caution in assessment of personal strengths.
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Saúde Mental , Transtornos da Personalidade , Adulto , Humanos , Transtornos da Personalidade/psicologia , Ansiedade , Transtornos de Ansiedade , IndividualidadeRESUMO
BACKGROUND: Clinicians increasingly serve youths from societal/cultural backgrounds different from their own. This raises questions about how to interpret what such youths report. Rescorla et al. (2019, European Child & Adolescent Psychiatry, 28, 1107) found that much more variance in 72,493 parents' ratings of their offspring's mental health problems was accounted for by individual differences than by societal or cultural differences. Although parents' reports are essential for clinical assessment of their offspring, they reflect parents' perceptions of the offspring. Consequently, clinical assessment also requires self-reports from the offspring themselves. To test effects of individual differences, society, and culture on youths' self-ratings of their problems and strengths, we analyzed Youth Self-Report (YSR) scores for 39,849 11-17 year olds in 38 societies. METHODS: Indigenous researchers obtained YSR self-ratings from population samples of youths in 38 societies representing 10 culture cluster identified in the Global Leadership and Organizational Behavioral Effectiveness study. Hierarchical linear modeling of scores on 17 problem scales and one strengths scale estimated the percent of variance accounted for by individual differences (including measurement error), society, and culture cluster. ANOVAs tested age and gender effects. RESULTS: Averaged across the 17 problem scales, individual differences accounted for 92.5% of variance, societal differences 6.0%, and cultural differences 1.5%. For strengths, individual differences accounted for 83.4% of variance, societal differences 10.1%, and cultural differences 6.5%. Age and gender had very small effects. CONCLUSIONS: Like parents' ratings, youths' self-ratings of problems were affected much more by individual differences than societal/cultural differences. Most variance in self-rated strengths also reflected individual differences, but societal/cultural effects were larger than for problems, suggesting greater influence of social desirability. The clinical significance of individual differences in youths' self-reports should thus not be minimized by societal/cultural differences, which-while important-can be taken into account with appropriate norms, as can gender and age differences.
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Individualidade , Pais , Criança , Adolescente , Humanos , Pais/psicologia , AutorrelatoRESUMO
BACKGROUND: The study aimed to assess the severity of symptoms of anxiety and depression in children with previously diagnosed psychiatric disorders during the COVID-19 pandemic in Poland. METHODS: Online questionnaires were used to investigate three groups of subjects: patients with a psychiatric diagnosis, primary school pupils, and children from children's homes. A total of 167 children with their parents or guardians participated in the study. In addition to basic statistics, a multidimensional Centroid Class Principal Component Analysis (CCPCA) model was used. RESULTS: It was found that the strongest fear of the coronavirus was experienced by children from children's homes, while the most severe depressive symptoms and state anxiety were observed among patients diagnosed with psychiatric disorders. Parental care by assisting with school education and lack of close contact with other people (less than two metres) at parents/guardians' work had the most potent protective effect in reducing the fear of COVID-19. CONCLUSIONS: There is a need for further research in children and adolescents to develop effective strategies for protecting their mental well-being when faced with social isolation or disease.
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COVID-19 , Transtornos Mentais , Adolescente , Ansiedade/diagnóstico , Ansiedade/psicologia , Criança , Depressão/diagnóstico , Depressão/psicologia , Humanos , Transtornos Mentais/diagnóstico , Transtornos Mentais/epidemiologia , Saúde Mental , PandemiasRESUMO
The aims of the study were to assess health-related quality of life (HRQoL) in children and adolescents with perinatal HIV infection and to establish possible relationships with clinical and socio-demographic variables. About 56 children with perinatal HIV infection, aged 6-18 years (PHIV+ group), 24 healthy perinatally HIV-exposed but uninfected (PHEU) children, and 43 children HIV-unexposed uninfected (HUU) were assessed using the PedsQL 4.0. Generic Core. The perceptions of school functioning according to children and social functioning, according to parents, were worse in the PHIV+ group compared to those in the PHEU group. In comparison to the HUU group, PHIV+ children received lower total HRQoL scores in the caregivers' perception. Most of the life-quality indices increased systematically with age in PHIV+ group, whereas opposite trends were present in both control groups. Caregivers of children with a final CDC category C and caregivers of children diagnosed with encephalopathy perceived most domains of their children functioning as more problematic. A more serious course and more severe HIV infection before treatment were associated with worse multidimensional functioning and a worse total HRQoL score. Results highlight the importance of early diagnosis and treatment initiation as having significant implications for the quality of life.
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Infecções por HIV , Qualidade de Vida , Adolescente , Cuidadores , Criança , Cognição , Feminino , Infecções por HIV/psicologia , Infecções por HIV/transmissão , Humanos , Transmissão Vertical de Doenças Infecciosas/prevenção & controle , Masculino , Assistência Perinatal , Polônia , Gravidez , Efeitos Tardios da Exposição Pré-NatalRESUMO
As societies become increasingly diverse, mental health professionals need instruments for assessing emotional, behavioral, and social problems in terms of constructs that are supported within and across societies. Building on decades of research findings, multisample alignment confirmatory factor analyses tested an empirically based 8-syndrome model on parent ratings across 30 societies and youth self-ratings across 19 societies. The Child Behavior Checklist for Ages 6-18 and Youth Self-Report for Ages 11-18 were used to measure syndromes descriptively designated as Anxious/Depressed, Withdrawn/Depressed, Somatic Complaints, Social Problems, Thought Problems, Attention Problems, Rule-Breaking Behavior, and Aggressive Behavior. For both parent ratings (N = 61,703) and self-ratings (N = 29,486), results supported aggregation of problem items into 8 first-order syndromes for all societies (configural invariance), plus the invariance of item loadings (metric invariance) across the majority of societies. Supported across many societies in both parent and self-ratings, the 8 syndromes offer a parsimonious phenotypic taxonomy with clearly operationalized assessment criteria. Mental health professionals in many societies can use the 8 syndromes to assess children and youths for clinical, training, and scientific purposes.
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Pais/psicologia , Psicopatologia/métodos , Sociedades/normas , Adolescente , Criança , Feminino , Humanos , Masculino , SíndromeRESUMO
Food allergy is a common condition in children and adolescent, remitting with time. Few clinical studies have emphasized the link between food allergies and psychosocial conditions, suggesting a profound impact of atopic diseases on the development of attention-deficit hyperactivity disorder (ADHD) in children. The objective of this study was to compile and assess available studies on the comorbidity or causality between ADHD and atopic food allergy in children. We discuss epidemiology, interrelated mechanisms, and potential dietary interventions in the management of children with ADHD.
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Transtorno do Deficit de Atenção com Hiperatividade/epidemiologia , Hipersensibilidade Alimentar/epidemiologia , Hipersensibilidade Alimentar/imunologia , Imunoglobulina E/imunologia , Transtorno do Deficit de Atenção com Hiperatividade/prevenção & controle , Criança , Comorbidade , Hipersensibilidade Alimentar/prevenção & controle , Humanos , Polônia/epidemiologia , Fatores de RiscoRESUMO
Cytokines are a large group of small proteins which play a significant role in cell signaling and regulate a variety of processes in organisms, including proliferation and differentiation of many cells, mediation in defense reactions and regulation of hematopoiesis. Cytokines can be divided into those with pro- and those with anti-inflammatory properties. In the group of pro-inflammatory cytokines the most important are: IL-1 beta, IL-6, TNF-alpha, and IFN-gamma. Pro-inflammatory cytokines might be involved in the pathophysiology of many psychiatric conditions in adults, but their role in children and adolescents is less clear. The aim of this article is to demonstrate the patterns of pro-inflammatory cytokines in children and adolescents.
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Citocinas/sangue , Inflamação/sangue , Transtornos Mentais/sangue , Adolescente , Criança , HumanosRESUMO
Cytokines are a large group of small proteins which play a significant role in cell signaling and regulate a variety of processes in organisms, including proliferation and differentiation of many cells, mediation in defense reactions and regulation of hematopoiesis. Cytokines can be divided into those with pro- and those with anti-inflammatory properties. In the group of pro-inflammatory cytokines the most important are: IL-1 beta, IL-6, TNF-alpha, and IFN-gamma. Pro-inflammatory cytokines might be involved in the pathophysiology of many psychiatric conditions in adults, but their role in children and adolescents is less clear. The aim of this article is to demonstrate the patterns of pro-inflammatory cytokines in children and adolescents.
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Population studies indicate a strong relationship between birth weight (BW) and body size in later life. However, BW as a variable was never accounted for in studies on the relationship between attention-deficit/hyperactivity disorder (ADHD) and overweight. This study aims to assess the relationship between ADHD and overweight with control of birth weight and other confounding factors. Prevalence of overweight was compared in clinical sample of 219 boys with ADHD and 396 boys without ADHD, aged 6-18 years. The following factors were controlled: BW, parents income and education level, place of residence, ADHD type, selected comorbid disorders and stimulant treatment. Overweight and obesity were diagnosed according to the criteria proposed by the International Obesity Task Force. Logistic regression analysis was used to estimate the association between ADHD and the prevalence of overweight and obesity. Boys with ADHD differed significantly from the control group in distribution of low BW (8.2 vs. 3.0 %, χ (2) = 8.23, p = 0.02). Low BW was associated with a lower prevalence of overweight than normal and high BW (0 vs. 12.14 %, χ (2) = 4.12, p = 0.04). Overweight was observed significantly more often in boys with ADHD (17.3 vs. 8.3 %, χ (2) = 11.23, p < 0.001) even after adjustment for BW and other variables (OR = 2.44, 95 % CI 1.38-4.29, p = 0.002) and after controlling for ADHD type, stimulant treatment and selected comorbid disorders. Independently to applied analysis, obesity was not associated with ADHD. Lower birth weight is over twice more often observed in boys with ADHD than in control group. Although this phenomenon may reduce the rate of overweight in the studied group, ADHD remains strongly associated with increased prevalence of overweight.
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Transtorno do Deficit de Atenção com Hiperatividade/epidemiologia , Sobrepeso/epidemiologia , Adolescente , Peso ao Nascer , Criança , Estudos Transversais , Humanos , Recém-Nascido , Masculino , Obesidade/epidemiologia , Prevalência , Fatores de RiscoRESUMO
We describe a patient with dystonia and psychotic symptoms treated with standard doses of antipsychotics, who developed neuroleptic malignant syndrome (NMS). A 16-year-old male with a history of misuse of dextromethorphan and pseudoephedrine for recreational purpose presented with dystonia and a psychotic episode. Following continuous treatment with olanzapine (10 mg/day), repeated injections of levomepromazine (37.5 mg/day), and a single injection of haloperidol (2.5 mg), the patient developed NMS. Muscular rigidity, fever (up to 41 °C), hypotension (100/70 mmHg), tachycardia (120 beats per minute), tachypnea (26 breaths per minute), elevated leukocyte count (up to 16.6 × 10(3)/µL), and elevated serum creatinine phosphokinase (CPK) (up to 15,255 U/L) were observed. A diagnosis of NMS was made according to the DSM-IV TR criteria. Genotyping revealed that he was homozygous for a non-functional CYP2D6*4 allele. The case highlights the importance of therapeutic drug monitoring in identification and differentiation of drug-induced effects in psychiatric disorder to prevent NMS and its complications. In addition, genotyping of CYP2D6 might be considered in patients with symptoms suggestive of drug toxicity who are treated with neuroleptics metabolized via the CYP2D6 pathway, as carriage of one or more non-functional alleles may increase the risk for adverse reactions, such as NMS.
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Citocromo P-450 CYP2D6/deficiência , Síndrome Maligna Neuroléptica/enzimologia , Adolescente , Citocromo P-450 CYP2D6/genética , DNA/genética , Diagnóstico Diferencial , Seguimentos , Testes Genéticos/métodos , Genótipo , Homozigoto , Humanos , Masculino , Síndrome Maligna Neuroléptica/diagnóstico , Síndrome Maligna Neuroléptica/genética , Reação em Cadeia da Polimerase em Tempo Real , Fatores de TempoRESUMO
BACKGROUND: Gilles de la Tourette Syndrome is a neurodevelopmental disorder that is caused by the interaction of environment with a complex genetic background. The genetic etiology of the disorder remains, so far, elusive, although multiple promising leads have been recently reported. The recent implication of the histamine decarboxylase (HDC) gene, the key enzyme in histamine production, raises the intriguing hypothesis of a possible role of histaminergic dysfunction leading to TS onset. METHODS: Following up on the finding of a nonsense mutation in a single family with TS, we investigated variation across the HDC gene for association with TS. As a result of a collaborative international effort, we studied a large sample of 520 nuclear families originating from seven European populations (Greek, Hungarian, Italian, Polish, German, Albanian, Spanish) as well as a sample collected in Canada. RESULTS AND CONCLUSIONS: Interrogating 12 tagging SNPs (tSNP) across the HDC region, we find strong over-transmission of alleles at two SNPs (rs854150 and rs1894236) in the complete sample, as well as a statistically significant associated haplotypes. Analysis of individual populations also reveals signals of association in the Canadian, German and Italian samples. Our results provide strong support for the histaminergic hypothesis in TS etiology and point to a possible role of histamine pathways in neuronal development.
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Histidina Descarboxilase/genética , Síndrome de Tourette/genética , Estudos de Coortes , Estudos de Associação Genética , Haplótipos , Humanos , Desequilíbrio de Ligação , Polimorfismo de Nucleotídeo Único , Síndrome de Tourette/enzimologiaRESUMO
Parent-teacher cross-informant agreement, although usually modest, may provide important clinical information. Using data for 27,962 children from 21 societies, we asked the following: (a) Do parents report more problems than teachers, and does this vary by society, age, gender, or type of problem? (b) Does parent-teacher agreement vary across different problem scales or across societies? (c) How well do parents and teachers in different societies agree on problem item ratings? (d) How much do parent-teacher dyads in different societies vary in within-dyad agreement on problem items? (e) How well do parents and teachers in 21 societies agree on whether the child's problem level exceeds a deviance threshold? We used five methods to test agreement for Child Behavior Checklist (CBCL) and Teacher's Report Form (TRF) ratings. CBCL scores were higher than TRF scores on most scales, but the informant differences varied in magnitude across the societies studied. Cross-informant correlations for problem scale scores varied moderately across societies studied and were significantly higher for Externalizing than Internalizing problems. Parents and teachers tended to rate the same items as low, medium, or high, but within-dyad item agreement varied widely in every society studied. In all societies studied, both parental noncorroboration of teacher-reported deviance and teacher noncorroboration of parent-reported deviance were common. Our findings underscore the importance of obtaining information from parents and teachers when evaluating and treating children, highlight the need to use multiple methods of quantifying cross-informant agreement, and provide comprehensive baselines for patterns of parent-teacher agreement across 21 societies.
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Transtornos do Comportamento Infantil/diagnóstico , Transtornos do Comportamento Infantil/epidemiologia , Docentes , Pais , Adolescente , Criança , Comparação Transcultural , Feminino , Humanos , Masculino , Variações Dependentes do Observador , Reprodutibilidade dos TestesRESUMO
OBJECTIVE: to assess the prevalence of obsessive-compulsive disorder (OCD) or OC symptoms in patients with anorexia nervosa (AN) and to find a possible relationship between the presence of OC symptoms and the course of AN. METHOD: 137 adolescent female patients with AN, aged 14.8 +/- 1.8 years, completed the Polish version of the LOI-CV. Two groups, High-risk (HR) and no High-risk (nHR), were defined according to the cut-off score of LOI-CV. The diagnosis of OCD was confirmed with the Polish version of K-SADS-PL. The relationship between the number and intensity of OC symptoms and the following data were analyzed: age of onset and on admittance to a psychiatric facility, weight loss, BMI on admittance and its changes, age of first menstruation, time of amenorrhea and of restitution of menses, length of treatment and number of relapses. RESULTS: OCD was not diagnosed in any subject, but 25% of the examined patients had OC symptoms which qualified them to High-risk group. Differences in HR and nHR groups were found between duration of AN before hospitalization, age and body mass after release from hospital. Negative correlation was found between "Yes" Score and Interference Score in LOI-CV and the age of patient at the time of release from hospital. CONCLUSIONS: the results of our study do not support the observations about a high co-occurrence of AN and OCD, but indicate the frequent co-occurrence of OK symptoms.
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Comportamento do Adolescente/psicologia , Anorexia Nervosa/epidemiologia , Transtorno Obsessivo-Compulsivo/epidemiologia , Adolescente , Anorexia Nervosa/diagnóstico , Causalidade , Comorbidade , Feminino , Humanos , Transtorno Obsessivo-Compulsivo/diagnóstico , Polônia/epidemiologia , Prevalência , Escalas de Graduação Psiquiátrica , Fatores de Risco , Índice de Gravidade de DoençaRESUMO
We used population sample data from 25 societies to answer the following questions: (a) How consistently across societies do adolescents report more problems than their parents report about them? (b) Do levels of parent-adolescent agreement vary among societies for different kinds of problems? (c) How well do parents and adolescents in different societies agree on problem item ratings? (d) How much do parent-adolescent dyads within each society vary in agreement on item ratings? (e) How well do parent-adolescent dyads within each society agree on the adolescent's deviance status? We used five methods to test cross-informant agreement for ratings obtained from 27,861 adolescents ages 11 to 18 and their parents. Youth Self-Report (YSR) mean scores were significantly higher than Child Behavior Checklist (CBCL) mean scores for all problem scales in almost all societies, but the magnitude of the YSR-CBCL discrepancy varied across societies. Cross-informant correlations for problem scale scores varied more across societies than across types of problems. Across societies, parents and adolescents tended to rate the same items as low, medium, or high, but within-dyad parent-adolescent item agreement varied widely in every society. In all societies, both parental noncorroboration of self-reported deviance and adolescent noncorroboration of parent-reported deviance were common. Results indicated many multicultural consistencies but also some important differences in parent-adolescent cross-informant agreement. Our findings provide valuable normative baselines against which to compare multicultural findings for clinical samples.
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Comportamento do Adolescente/psicologia , Comportamento Infantil/psicologia , Relações Pais-Filho , Pais/psicologia , Adolescente , Criança , Comparação Transcultural , Feminino , Humanos , Masculino , Autorrelato , Inquéritos e QuestionáriosRESUMO
AIM: To compare the self concept of boys with ADHD and health subjects; to determine which symptoms ofADHD, oppositional defiant disorder (ODD) or conduct disorder (CD) have the greatest impact on self-concept. METHOD: Polish version of The Harter Self-Esteem Questionnaire (HSEQ) was filled by boys with ADHD and control group. In addition, a diagnosis of ODD and CD was made in ADHD group. RESULTS: A significant difference was observed between boys with ADHD and control group on the following scales of HSEQ: Global Self-Esteem Subscale, Social Acceptance Subscale and Scholastic Performance Subscale. No significant influence of the quantity and intensity of ADHD and ODD symptoms on self-esteem was found. A significant correlation was indicated between all scales of HSEQ and quantity and intensity of symptoms ofADHD. CONCLUSIONS: Boys with ADHD have lower self-esteem than their healthy peers and their global self-esteem, social acceptance and school skills are most affected. The presence of conduct disorder (CD) had the greatest impact on the decrease of self esteem in ADHD group.
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Comportamento do Adolescente/psicologia , Transtorno do Deficit de Atenção com Hiperatividade/psicologia , Comportamento Infantil/psicologia , Autoimagem , Autorrelato , Adolescente , Transtorno do Deficit de Atenção com Hiperatividade/diagnóstico , Criança , Humanos , Masculino , Grupo Associado , Projetos Piloto , Qualidade de Vida/psicologia , Autoavaliação (Psicologia) , Ajustamento SocialRESUMO
INTRODUCTION: Attention deficit hyperactivity disorder (ADHD) affects 5%-10% of paediatric population and is reportedly more common in children with type 1 diabetes (T1D), exacerbating its clinical course. Proper treatment of ADHD in such patients may thus provide neurological and metabolic benefits. To test this, we designed a non-commercial second phase clinical trial comparing the impact of different pharmacological interventions for ADHD in children with T1D. METHODS AND ANALYSIS: This is a multicentre, randomised, open-label, cross-over clinical trial in children and adolescents with ADHD and T1D. The trial will be conducted in four reference paediatric diabetes centres in Poland. Over 36 months, eligible patients with both T1D and ADHD (aged 8-16.5 years, T1D duration >1 year) will be offered participation. Patients' guardians will undergo online once-weekly training sessions behaviour management for 10 weeks. Afterward, children will be randomised to methylphenidate (long-release capsule, doses 18-36-54 mg) versus lisdexamphetamine (LDX, 30-50-70 mg). Pharmacotherapy will continue for 6 months before switching to alternative medication. Throughout the trial, the participants will be evaluated every 3 months by their diabetologist and online psychological assessments. The primary endpoint (ADHD symptom severity, Conners 3.0 questionnaire) will be assessed by a blinded investigator. Secondary endpoints will include HbA1c, continuous glucose monitoring indices and quality-of-life (PedsQL). ETHICS AND DISSEMINATION: The trial is approved by Bioethical Committee at Medical University of Lodz and Polish regulatory agency (RNN/142/22/KE, UR/DBL/D/263/2022). The results will be communicated to the research and clinical community, and Polish agencies responsible for healthcare policy. Patient organisations focused on paediatric T1D will be notified by a consortium member. We hope to use the trial's results to promote collaboration between mental health professionals and diabetes teams, evaluate the economic feasibility of using LDX in patients with both diseases and the long run improve ADHD treatment in children with T1D. TRIAL REGISTRATION NUMBERS: EU Clinical Trials Register (EU-CTR, 2022-001906-24) and NCT05957055.
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Transtorno do Deficit de Atenção com Hiperatividade , Estimulantes do Sistema Nervoso Central , Diabetes Mellitus Tipo 1 , Metilfenidato , Adolescente , Humanos , Criança , Transtorno do Deficit de Atenção com Hiperatividade/psicologia , Metilfenidato/uso terapêutico , Dimesilato de Lisdexanfetamina/uso terapêutico , Diabetes Mellitus Tipo 1/tratamento farmacológico , Pacientes Ambulatoriais , Automonitorização da Glicemia , Glicemia , Estimulantes do Sistema Nervoso Central/efeitos adversos , Resultado do Tratamento , Ensaios Clínicos Controlados Aleatórios como Assunto , Estudos Multicêntricos como AssuntoRESUMO
Tourette Syndrome (TS) is a complex neurodevelopmental disorder characterized by vocal and motor tics lasting more than a year. It is highly polygenic in nature with both rare and common previously associated variants. Epidemiological studies have shown TS to be correlated with other phenotypes, but large-scale phenome wide analyses in biobank level data have not been performed to date. In this study, we used the summary statistics from the latest meta-analysis of TS to calculate the polygenic risk score (PRS) of individuals in the UK Biobank data and applied a Phenome Wide Association Study (PheWAS) approach to determine the association of disease risk with a wide range of phenotypes. A total of 57 traits were found to be significantly associated with TS polygenic risk, including multiple psychosocial factors and mental health conditions such as anxiety disorder and depression. Additional associations were observed with complex non-psychiatric disorders such as Type 2 diabetes, heart palpitations, and respiratory conditions. Cross-disorder comparisons of phenotypic associations with genetic risk for other childhood-onset disorders (e.g.: attention deficit hyperactivity disorder [ADHD], autism spectrum disorder [ASD], and obsessive-compulsive disorder [OCD]) indicated an overlap in associations between TS and these disorders. ADHD and ASD had a similar direction of effect with TS while OCD had an opposite direction of effect for all traits except mental health factors. Sex-specific PheWAS analysis identified differences in the associations with TS genetic risk between males and females. Type 2 diabetes and heart palpitations were significantly associated with TS risk in males but not in females, whereas diseases of the respiratory system were associated with TS risk in females but not in males. This analysis provides further evidence of shared genetic and phenotypic architecture of different complex disorders.
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Transtorno do Deficit de Atenção com Hiperatividade , Transtorno do Espectro Autista , Diabetes Mellitus Tipo 2 , Síndrome de Tourette , Masculino , Feminino , Humanos , Síndrome de Tourette/genética , Transtorno do Espectro Autista/genética , Transtorno do Deficit de Atenção com Hiperatividade/genética , Fatores de RiscoRESUMO
BACKGROUND: Tourette syndrome (TS) is a childhood-onset neurodevelopmental disorder of complex genetic architecture and is characterized by multiple motor tics and at least one vocal tic persisting for more than 1 year. METHODS: We performed a genome-wide meta-analysis integrating a novel TS cohort with previously published data, resulting in a sample size of 6133 individuals with TS and 13,565 ancestry-matched control participants. RESULTS: We identified a genome-wide significant locus on chromosome 5q15. Integration of expression quantitative trait locus, Hi-C (high-throughput chromosome conformation capture), and genome-wide association study data implicated the NR2F1 gene and associated long noncoding RNAs within the 5q15 locus. Heritability partitioning identified statistically significant enrichment in brain tissue histone marks, while polygenic risk scoring of brain volume data identified statistically significant associations with right and left thalamus volumes and right putamen volume. CONCLUSIONS: Our work presents novel insights into the neurobiology of TS, thereby opening up new directions for future studies.
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The aim of the analyses was to investigate the relations between parental incarceration and the levels of behavioral and emotional problems in children of fathers serving prison sentences, based on the children's self-report. We tested a criterion group and two control groups. The criterion group consisted of children whose fathers were in prison. The children in control group I were from complete families; the level of problem behaviors in these families and the level of psychological resiliency in these children were similar to the respective levels in the criterion group. Finally, control group II consisted of children whose fathers were not in prison; problem behaviors in their families were basically absent or slight, and their level of resiliency was significantly higher compared to prisoners' children and control group I. Prisoners' children exhibited a higher level of emotional and behavioral problems than children from families in which the father was not serving a prison sentence and in which the level of dysfunctions was low. As regards prisoners' children compared to their peers with a similar level of resiliency and a similar level of problem behavior in the family, statistically significant differences were found only in a few categories of emotional and behavioral problems. Parental incarceration proved to be an additional factor increasing the level of behavioral and emotional problems in children and adolescents-particularly girls-whose fathers were imprisoned.