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•Describes the ABCD study aims and design.•Covers issues surrounding estimation of meaningful associations, including population inferences, effect sizes, and control of covariates.•Outlines best practices for reproducible research and reporting of results.•Provides worked examples that illustrate the main points of the paper. The Adolescent Brain Cognitive Development (ABCD) Study is the largest single-cohort prospective longitudinal study of neurodevelopment and children's health in the United States. A cohort of n = 11,880 children aged 9–10 years (and their parents/guardians) were recruited across 22 sites and are being followed with in-person visits on an annual basis for at least 10 years. The study approximates the US population on several key sociodemographic variables, including sex, race, ethnicity, household income, and parental education. Data collected include assessments of health, mental health, substance use, culture and environment and neurocognition, as well as geocoded exposures, structural and functional magnetic resonance imaging (MRI), and whole-genome genotyping. Here, we describe the ABCD Study aims and design, as well as issues surrounding estimation of meaningful associations using its data, including population inferences, hypothesis testing, power and precision, control of covariates, interpretation of associations, and recommended best practices for reproducible research, analytical procedures and reporting of results.

Beliefs about the malleability of intellectual ability—mindsets—shape achievement. Recent evidence suggests that even young children hold such mindsets; yet, no reliable and valid instruments exist for measuring individual differences in young children’s mindsets. Given the potential relevance of mindsets to children’s achievement-related behavior and learning, we developed and tested the psychometric properties of the Growth Mindset Scale for Children (GM-C). Among other psychometric properties, we assessed this instrument’s (a) factor structure, (b) measurement invariance, (c) internal consistency, (d) temporal stability (test-retest reliability), (e) concurrent validity, and (f) cross-cultural robustness in samples of US children (Study 1; N = 220; ages 4 through 6; 50% girls; 39% White) and South African children (Study 2; predominantly grades 4 and 5; N = 331; 54% girls; 100% non-White). The GM-C scale exhibited four factors, representing beliefs about the instability of low ability, the malleability of low ability, the instability of high ability, and the malleability of high ability. The GM-C scale also demonstrated invariance across age, acceptable internal consistency (αs between .70 to .90), and moderate temporal stability over approximately one month ( r s between .38 to .72). Concurrent validity was supported by significant relations between children’s scores on the subscales about low ability and their goal orientations (Studies 1 and 2), challenge-seeking behavior, and achievement in math and English (Study 2). These findings suggest that the GM-C scale is a promising tool for measuring mindsets in young children. We offer practical recommendations for using this new scale and discuss theoretical implications.

A stochastic actor-based model was used to investigate the origins of sex segregation by examining how similarity in sex of peers and time spent in gender-typed activities affected affiliation network selection and how peers influenced children's (N = 292; M age = 4.3 years) activity involvement. Gender had powerful effects on interactions through direct and indirect pathways. Children selected playmates of the same sex and with similar levels of gender-typed activities. Selection based on gender-typed activities partially mediated selection based on sex of peers. Children influenced one another's engagement in gender-typed activities. When mechanisms producing sex segregation were compared, the largest contributor was selection based on sex of peers; less was due to activity-based selection and peer influence. Implications for sex segregation and gender development are discussed.

This study describes psychometric properties of the NIH Toolbox Cognition Battery (NIHTB-CB) executive function measures in an adult sample. The NIHTB-CB was designed for use in epidemiologic studies and clinical trials for ages 3 to 85. A total of 268 self-described healthy adults were recruited at four university-based sites, using stratified sampling guidelines to target demographic variability for age (20–85 years), gender, education and ethnicity. The NIHTB-CB contains two computer-based instruments assessing executive function: the Dimensional Change Card Sort (a measure of cognitive flexibility) and a flanker task (a measure of inhibitory control and selective attention). Participants completed the NIHTB-CB, corresponding gold standard convergent and discriminant measures, and sociodemographic questionnaires. A subset of participants (N=89) was retested 7 to 21 days later. Results reveal excellent sensitivity to age-related changes during adulthood, excellent test–retest reliability, and adequate to good convergent and discriminant validity. The NIH Toolbox EF measures can be used effectively in epidemiologic and clinical studies. (JINS, 2014, 20, 1–10)

Penicillamine(D-Penicillamine) and trientine are first-line therapies for Wilson's Disease (WD), yet real-world data on their adverse events (AEs) remain scarce. We analyzed the FDA Adverse Event Reporting System (FAERS) to comprehensively assess the safety of penicillamine and trientine in WD treatment. AEs for penicillamine and trientine (2004Q1-2024Q4) were analyzed using Proportional Reporting Ratio (PRR), Reporting Odds Ratio (ROR), and Bayesian Confidence Propagation Neural Network (BCPNN). We found 1,452 and 760 AEs related to penicillamine and trientine, respectively. In all adverse event (AE) reports, the ratio of females to males was approximately 1.3, with the highest proportion of AE reports in the 21-30 age group, and the largest number of AE reports coming from the United States. Signal detection showed that the most commonly reported AEs for penicillamine and trientine were drug hypersensitivity and tremor, respectively, with the highest proportions in the SOC categories of immune system disorders and gastrointestinal disorders. The main AEs for both drugs involved condition aggravated, and identified potential safety signals requiring further validation for the two drugs, such as decreased bone density and brain atrophy for penicillamine, and memory impairment, oesophageal ulcer and starvation for trientine. In addition, we found that women were more likely to experience drug hypersensitivity in penicillamine adverse event reports, while men were more likely to experience cutis laxa. This study reveals the characteristics of AEs and potential associated risks in the clinical application of penicillamine and trientine, emphasizing individualized medication and vigilant monitoring strategies to provide guidance for safe medication use.

This explanatory sequential mixed methods study examined how belonging perceptions, academic motivation, and engagement might mediate the relationship between academic contextual characteristics and achievement using structural equation modeling and qualitative follow-up interviews with college students from a large, Midwestern university. In the first, quantitative phase, two hypothesized models of student belonging and motivation were tested. In line with the Self-System Model of Classroom Support for Motivation (Connell and Wellborn, in: Gunnar and Sroufe (eds.) Minnesota Symposium on Child Psychology: Self-processes and Development, 1991), Model 1 hypothesized student belonging and motivation to be directly predicted by supportive classroom environment perceptions, and to directly predict engagement, which was hypothesized to predict achievement. Model 2 elaborated on the traditional self-system model and hypothesized student belonging to mediate the relationship between supportive classroom environment perceptions and student motivation. Quantitative findings revealed support for Model 2. Supportive classroom environment perceptions predicted students' belonging beliefs, which in turn predicted students' motivation, engagement, and achievement in the course. The second, follow-up qualitative phase suggested ways in which contextual characteristics might influence student belonging beliefs in the classroom. Taken together, the quantitative and qualitative data illustrate the influential role of classroom contextual characteristics on student outcomes, as well as the role student belonging plays in college student motivation and success.

Background A large number of children are currently living in Alternative Care. The relationship they establish with their temporary caregivers can play a significant role in their development. However, little has been published regarding attachment with temporary Caregivers . Objective The aim of this review is to analyse the existing published studies regarding attachment styles in children living in alternative care (Children’s Homes and Foster Care). The review analyses rates of attachment styles and associated factors (including characteristics of settings, children and caregivers) in both settings. Methods A systematic literature review was conducted searching electronic databases for peer reviewed publications in different languages. Studies considering attachment in children living in Children’s Homes or Foster families at the time of the study were included. Results Overall, 18 articles reporting 13 studies met the inclusion criteria. The results are presented in terms of characteristics of the studies, rates of attachment in different settings and possible mediating factors. Implications for practice and research are discussed. Conclusions Attachment styles in children living in alternative care differ from those observed in children living with biological or adoptive families, however several factors can mediate this outcome (including characteristics of settings, children and caregivers). Most research has been conducted in Europe and USA. Therefore, further research is needed in less developed countries in order to guide local policies for better care.

There is frequent uncertainty in the identification of specific etiologies of chronic kidney disease (CKD) in children. Recent studies indicate that chromosomal microarrays can identify rare genomic imbalances that can clarify the etiology of neurodevelopmental and cardiac disorders in children; however, the contribution of unsuspected genomic imbalance to the incidence of pediatric CKD is unknown. We performed chromosomal microarrays to detect genomic imbalances in children enrolled in the Chronic Kidney Disease in Children (CKiD) prospective cohort study, a longitudinal prospective multiethnic observational study of North American children with mild to moderate CKD. Patients with clinically detectable syndromic disease were excluded from evaluation. We compared 419 unrelated children enrolled in CKiD to multiethnic cohorts of 21,575 children and adults that had undergone microarray genotyping for studies unrelated to CKD. We identified diagnostic copy number disorders in 31 children with CKD (7.4% of the cohort). We detected 10 known pathogenic genomic disorders, including the 17q12 deletion HNF1 homeobox B (HNF1B) and triple X syndromes in 19 of 419 unrelated CKiD cases as compared with 98 of 21,575 control individuals (OR 10.8, P = 6.1 × 10⁻²⁰). In an additional 12 CKiD cases, we identified 12 likely pathogenic genomic imbalances that would be considered reportable in a clinical setting. These genomic imbalances were evenly distributed among patients diagnosed with congenital and noncongenital forms of CKD. In the vast majority of these cases, the genomic lesion was unsuspected based on the clinical assessment and either reclassified the disease or provided information that might have triggered additional clinical care, such as evaluation for metabolic or neuropsychiatric disease. A substantial proportion of children with CKD have an unsuspected genomic imbalance, suggesting genomic disorders as a risk factor for common forms of pediatric nephropathy. Detection of pathogenic imbalances has practical implications for personalized diagnosis and health monitoring in this population. ClinicalTrials.gov NCT00327860. This work was supported by the NIH, the National Institutes of Diabetes and Digestive and Kidney Diseases (NIDDK), the National Institute of Child Health and Human Development, and the National Heart, Lung, and Blood Institute.

Background Pulmonary arterial hypertension (PAH) is a lethal vasculopathy characterized by pathogenic remodeling of pulmonary arterioles leading to increased pulmonary pressures, right ventricular hypertrophy, and heart failure. PAH can be associated with other diseases (APAH: connective tissue diseases, congenital heart disease, and others) but often the etiology is idiopathic (IPAH). Mutations in bone morphogenetic protein receptor 2 ( BMPR2 ) are the cause of most heritable cases but the vast majority of other cases are genetically undefined. Methods To identify new risk genes, we utilized an international consortium of 4241 PAH cases with exome or genome sequencing data from the National Biological Sample and Data Repository for PAH, Columbia University Irving Medical Center, and the UK NIHR BioResource – Rare Diseases Study. The strength of this combined cohort is a doubling of the number of IPAH cases compared to either national cohort alone. We identified protein-coding variants and performed rare variant association analyses in unrelated participants of European ancestry, including 1647 IPAH cases and 18,819 controls. We also analyzed de novo variants in 124 pediatric trios enriched for IPAH and APAH-CHD. Results Seven genes with rare deleterious variants were associated with IPAH with false discovery rate smaller than 0.1: three known genes ( BMPR2 , GDF2 , and TBX4 ), two recently identified candidate genes ( SOX17 , KDR ), and two new candidate genes (fibulin 2, FBLN2 ; platelet-derived growth factor D, PDGFD ). The new genes were identified based solely on rare deleterious missense variants, a variant type that could not be adequately assessed in either cohort alone. The candidate genes exhibit expression patterns in lung and heart similar to that of known PAH risk genes, and most variants occur in conserved protein domains. For pediatric PAH, predicted deleterious de novo variants exhibited a significant burden compared to the background mutation rate (2.45×, p = 2.5e−5). At least eight novel pediatric candidate genes carrying de novo variants have plausible roles in lung/heart development. Conclusions Rare variant analysis of a large international consortium identified two new candidate genes— FBLN2 and PDGFD . The new genes have known functions in vasculogenesis and remodeling. Trio analysis predicted that ~ 15% of pediatric IPAH may be explained by de novo variants.