Cognitive Science

Background: Amyotrophic lateral sclerosis (ALS) is a fatal degenerative neurological disease with significant effects on quality of life. International studies continue to provide consistent incidence values, though complete case ascertainment remains a challenge. The Canadian population has been understudied, and there are currently no quantitative data on the incidence of ALS in British Columbia (BC). The objectives of this study were to determine the five-year incidence rates of ALS in BC and to characterize the demographic patterns of the disease. Methods: The capture–recapture method was employed to estimate ALS incidence over a five-year period (2010-2015). Two sources were used to identify ALS cases: one database from an ALS medical centre and another from a not-for-profit ALS organization. Results: During this time period, there were 690 incident cases within the two sources. The capture–recapture method estimated 57 unobserved cases, corresponding to a crude five-year incid...

CHARLOTTE LINDE and WILLIAM LABOV Hunter College, CUNY University of Pennsylvania A technique has been developed for observing the translation of cognitive input into language in a spontaneous, practiced speech event: descriptions of the lay-outs of apartments. The ...

Depression risk is exacerbated by genetic factors and stress exposure; however, the biological mechanisms through which these factors interact to confer depression risk are poorly understood. One putative biological mechanism implicates variability in the ability of cortisol, released in response to stress, to trigger a cascade of adaptive genomic and non-genomic processes through glucocorticoid receptor (GR) activation. Here, we demonstrate that common genetic variants in long-range enhancer elements modulate the immediate transcriptional response to GR activation in human blood cells. These functional genetic variants increase risk for depression and co-heritable psychiatric disorders. Moreover, these risk variants are associated with inappropriate amygdala reactivity, a transdiagnostic psychiatric endophenotype and an important stress hormone response trigger. Network modeling and animal experiments suggest that these genetic differences in GR-induced transcriptional activation m...

Cavernous malformations (CMs) are vascular anomalies of the nervous system mostly located in the brain. Cerebral cavernous malformations can present sporadically or familial, as a consequence of an autosomal dominant condition, with incomplete penetrance and variable clinical expression. Occasionally, extraneural manifestations of CMs involving the skin have been described. We report the case of two siblings presenting in adulthood diffuse cutaneous vascular lesions associated with cerebral CMs that, after surgical excision and histopathologic analysis, resulted to cavernous haemangiomas. Genomic DNA was extracted from peripheral blood, and molecular evaluation of KRIT1 gene was performed. Although no signs of neurological impairment were reported, cerebral MRI revealed multiple images in both patients, suggestive of cavernous haemangiomas. The genetic study demonstrated a nonsense mutation (c.535C>T) in the KRIT1 (Krev-1/rap1 interaction trapped 1) gene. Few reports describe extraneural manifestations of Cavernous malformation syndrome (CMs) related to a KRIT1 mutation; these involve the skin and are associated with hyperkeratotic cutaneous capillary-venous malformation. CMs should be suspected in patients developing multiple nodular cutaneous venous lesions in adulthood.

Converging evidence from neuroimaging studies has revealed altered connectivity in cortical–subcortical networks in youth and adults with autism spectrum disorder (ASD). Comparatively little is known about the development of cortical–subcortical connectivity in infancy, before the emergence of overt ASD symptomatology. Here, we examined early functional and structural connectivity of thalamocortical networks in infants at high familial risk for ASD (HR) and low-risk controls (LR). Resting-state functional connectivity and diffusion tensor imaging data were acquired in 52 6-week-old infants. Functional connectivity was examined between 6 cortical seeds—prefrontal, motor, somatosensory, temporal, parietal, and occipital regions—and bilateral thalamus. We found significant thalamic-prefrontal underconnectivity, as well as thalamic-occipital and thalamic-motor overconnectivity in HR infants, relative to LR infants. Subsequent structural connectivity analyses also revealed atypical white...

Using data from the Montreal Longitudinal-Experimental Study, we examined the impact of poverty (and its correlate, family configuration status) on academic placement and self-reported delinquency in boys at age 16. We then investigated whether the relation between family economic hardship and antisocial behaviour is direct or indirect by considering the value of parenting practices and academic failure as process variables in the model. Data included official records, and parent, teacher, and self-reports. The temporal intensity of poverty was classified into five categories: never-poor; always-poor; poor-earlier; poor-later; and transitory-poverty. Family configuration status was classified by both temporal characteristics and number of marital transitions: intact-family; short-term-single; long-term-single; short-term-remarried; long-term-remarried; and multiple-marital-transitions. Results revealed that when maternal education and early childhood behaviour were controlled, poverty had an effect on both academic failure and extreme delinquency. This effect was independent of family configuration status. Although they both significantly predicted extreme delinquency on their own, academic failure and parental supervision did not mediate the relationship between poverty and delinquency. Divorce increased the risk of theft and fighting at age 16, regardless of financial hardship. Parental supervision only helped explain the effects of divorce on boys' fighting.

We employed an autoregressive modelling technique with data from the Québec Longitudinal Study to prospectively examine the developmental impact of family transition on behaviour while controlling for predivorce and preremarriage effects. Teachers rated children's anxious, hyperactive, physically aggressive, oppositional, and prosocial behaviour every 2 years from kindergarten through to the end of elementary school. Once individual and parental characteristics and antecedent family events were controlled, children who experienced parental divorce before age 6 exhibited comparatively more behavioural disturbance than their peers whose parents divorced later. With the exception of a protective effect on hyperactive behaviour, remarriage did not have a significant impact on children's behaviour when the legacy of divorce was controlled. Although the results suggest that children of divorced parents show difficulty in many areas of functioning, the effects of family transition on behavioural development were dependent on the child's age and the specific behavioural dimension assessed. Compared to other points in development, early childhood divorce was associated with long-term increases in anxious, hyperactive, and oppositional behaviour during later childhood. The effects of divorce on children's fighting were short-lived. Unlike previous prospective studies that suggest predivorce effects, we did not observe behavioural disturbance prior to divorce or remarriage.

The present study examined psychiatric functioning in a community sample of adolescents aged 14 to 17 years (average age of 15 years). We administered the Diagnostic Interview Schedule for Children-2.25 (DISC-2.25) to 1,201 adolescents and their mothers to obtain prevalence estimates of DSM-III-R disorders and the amount of perceived impairment associated with these disorders. While adolescent females reported a significantly higher prevalence of psychiatric disorders than males (15.5% vs. 8.5%), mothers indicated no sex difference. Compared with adolescent males, females had significantly higher rates of internalizing, anxiety. and depressive disorders. In contrast, the prevalence of externalizing disorders was significantly higher among adolescent males. The inclusion of an impairment criterion had a significant impact in reducing the prevalence rates of overall psychiatric disorders. This reduction occurred mainly through impairment's effects on internalizing disorders, specifically anxiety-based disorders (i.e., simple and social phobia). Given the limited research on the effect of impairment on the prevalence of adolescent psychiatric disorders, future work in this area seems warranted.

The purpose of this study was to examine prospectively the impact of family transition on deviant development in a sample of 427 French-Canadian boys participating in a longitudinal study from kindergarten onwards. During the course of the study some boys experienced family transition. We grouped the boys by developmental period and number of marital transitions they experienced: divorced between ages 6 and 11; divorced between ages 12 to 15; remarried between ages 6 and 11; and remarried between ages 12 and 15. From ages 11 to 15 we assessed boys' delinquency and their family processes (parental supervision, punishment, and communication) annually. The results suggest that boys who experienced remarriage between ages 12 and 15 are at greater risk for delinquency. In particular, they showed evidence of comparatively more theft and fighting at earlier ages than their peers from families that had remained intact. At similar points in development, they perceived less expressive parent-child relationships. Finally, these boys also perceived less monitoring by their parents, both overall and at different points in adolescence.

Using data from the first cycle of the National Longitudinal Survey of Children and Youth, this study examines the impact of junior kindergarten on children’s behavioural development, above and beyond regional differences and individual/household factors. It was hypothesised that earlier schooling would help children learn behavioural control skills for participating in group settings like the elementary school classroom. Research has established that children from disadvantaged environments face an increased risk of behavioural problems, usually by virtue of accompanying risk factors. As such, we hypothesised that junior kindergarten attendance would reduce the risk gap for behavioural problems between children from economically disadvantaged and advantaged families. The results revealed that on the whole, junior kindergarten did not seem to decrease problem behaviour. These results are above and beyond a number of controls (sex, age, region, SES, family functioning, family configu...

Contributing to the family violence and conflict literature, we examine prospective and concurrent risk factors associated with verbal and physical aggression toward mothers by 15/16 year-old adolescent sons and daughters. Data from the Quebec Longitudinal Study of Kindergarten Children is used to examine the influence of socioeconomic factors, inherent individual and family environment factors, and prospective and concurrent parenting process factors as predictors of adolescent aggression (in the last 6 months). A childhood behavioural pattern characterised by physical aggression generated the highest risk of adolescent-directed verbal and physical aggression toward mothers. Aggressive parental punishment in the last 6 months significantly predicted aggression toward mothers. A childhood life-course of violence seems to culminate in verbal and physical aggression toward mothers during adolescence. Given this building-up process from childhood, harsh parental punishment of the adole...

We first replicated the data analytic strategy used in Duncan et al. (2007) with a population-based data set of French-speaking children from Quebec (Canada). Prospective associations were examined between cognitive, attention, and socioemotional characteristics underlying kindergarten school readiness and second grade math, reading, and general achievement. We then extended this school readiness model by including motor skills as an additional element in the prediction equation and expanded the original strategy by including classroom engagement. The Montreal Longitudinal-Experimental Preschool Study, featured in Duncan et al., served as the Canadian reference group. In the replication model, kindergarten cognitive and attention characteristics predicted achievement by the end of 2nd grade. Although inconsistent across outcomes, behavioral problems and skills also emerged as predictors of some aspects of later achievement. Coefficients for kindergarten math skills were largest, followed by attention skills, receptive language skills, attention problems, and behavior. Most coefficients resembled those generated in the initial study. In our extension model, fine motor skills added their significant contribution to the prediction of later achievement above and beyond the original key elements of school readiness. Our extension model confirmed prospectively associations between kindergarten cognitive, attention, fine motor, and physical aggression characteristics and later achievement and classroom engagement by the end of 2nd grade. Although they comparatively showed better long-term benefits from stronger early attention skills, girls with less kindergarten cognitive skills were more vulnerable than boys with similar deficits when predicting 2nd grade math.

In this article we replicate and extend findings from Duncan et al. (2007). The 1st study used Canada-wide data on 1,521 children from the National Longitudinal Survey of Children and Youth (NLSCY) to examine the influence of kindergarten literacy and math skills, mother-reported attention, and mother-reported socioemotional behaviors on 3rd-grade math and reading outcomes. Similar to Duncan et al., (a) math skills were the strongest predictor of later achievement, (b) literacy and attention skills predicted later achievement, and (c) socioemotional behaviors did not significantly predict later school achievement. As part of extending the findings, we incorporated a multiple imputation approach to handle missing predictor variable data. Results paralleled those from the original study in that kindergarten math skills and Peabody Picture Vocabulary Test-Revised scores continued to predict later achievement. However, we also found that kindergarten socioemotional behaviors, specifically hyperactivity/impulsivity, prosocial behavior, and anxiety/depression, were significant predictors of 3rd-grade math and reading. In the 2nd study, we used data from the NLSCY and the Montreal Longitudinal-Experimental Preschool Study (MLEPS), which was included in Duncan et al., to extend previous findings by examining the influence of kindergarten achievement, attention, and socioemotional behaviors on 3rd-grade socioemotional outcomes. Both NLSCY and MLEPS findings indicated that kindergarten math significantly predicted socioemotional behaviors. There were also a number of significant relationships between early and later socioemotional behaviors. Findings support the importance of socioemotional behaviors both as predictors of later school success and as indicators of school success.

We tested three competing models regarding the role of deviant friends in the trajectory linking early disruptiveness with later conduct problems through the use of a preventive intervention program. The program was implemented during the second and third grade. One model predicted that the program would positively affect later conduct problems by facilitating nondeviant peer association during early adolescence. The second model predicted a direct impact of the program on later conduct problems through the reduction of early disruptiveness. The third model predicted an interaction between postintervention disruptiveness and association with less deviant friends. The results showed that the program's effects on later conduct problems were mediated by the reduction in disruptiveness and by the association with less deviant friends. However, the positive effect of associating with less deviant friends depended on whether children's disruptiveness had been reduced or not by their participation in the program, thus supporting the third model. We recommend using intervention studies to test developmental models.