Copy number variation burden does not predict severity of neurodevelopmental phenotype in children with a sex chromosome trisomy

Sex chromosome trisomies (SCTs) (XXX, XXY, and XYY karyotypes) are associated with an elevated risk of neurodevelopmental disorders. The range of severity of the phenotype is substantial. We considered whether this variable outcome was related to the presence of copy number variants (CNVs)—stretches of duplicated or deleted DNA. A sample of 125 children with an SCT were compared with 181 children of normal karyotype who had been given the same assessments. First, we compared the groups on measures of overall CNV burden: number of CNVs, total span of CNVs, and likely functional impact (probability of loss‐of‐function intolerance, pLI, summed over CNVs). Differences between groups were small relative to within‐group variance and not statistically significant on overall test. Next, we considered whether a measure of general neurodevelopmental impairment was predicted by pLI summed score, SCT versus comparison group, or the interaction between them. There was a substantial effect of SCT/comparison status but the pLI score was not predictive of outcomes in either group. We conclude that variable presence of CNVs is not a likely explanation for the wide phenotypic variation in children with SCTs. We discuss methodological challenges of testing whether CNVs are implicated in causing neurodevelopmental problems.     

Physical activity and motor skill outcomes of a 10-week intervention for children with intellectual and developmental disabilities ages 4–13: A pilot study

BackgroundChildren with intellectual and developmental disabilities (IDD) often experience increased barriers to engaging in physical activity (PA) which can stem from lack of gross motor function (GMF) development. Intervening on GMF at an early age can create better opportunities for children with IDD to engage in regular PA. In turn, increased PA can improve health outcomes and increase social skills.ObjectiveThe primary objective of this pilot study was to explore the effectiveness of a community-based GMF-focused PA intervention for improving overall motor skills and PA for children with IDD.MethodsAll study participants (n = 24) engaged in 10 weeks of programming for 1 h each week. A convenience sample was utilized.ResultsResults indicated no statistically significant changes pre to post for motor skill scores. However, a visual analysis of mean changes showed a consistent pattern of increased scores from pre to post on most skills. Additionally, we found that a change in participant locomotor skills significantly predicted change in Moderate to Vigorous Physical Activity (MVPA), F (1,11) = 5.16, Adj R² = .26, p = .04.ConclusionsThese results suggest individualized attention on GMF may help to increase motor skills for children with IDD. This study adds to the small but growing amount of research examining the efficacy of community based adapted PA interventions. Further, study results should support continued exploration of effective approaches to address the motor delays experienced by children with IDD.     

A diary approach to analysing young adults' drinking events and motivations

Completing a diary over two weeks, 201 young adults recorded each of their drinking events, and information about the context and their motivations for alcohol use. Males reported almost twice as many drinking events and three times the number of drinks over the two-week period. At the same time, males and females mostly drank from Wednesdays to Sundays, with the majority of beer, wine and spirit consumption being between 4 p.m. and midnight. Most drinking occurred in mixed-sex peer groups, and the next greatest in family gatherings. Males mostly drank beer, while females chose either wine or spirits. Most drinking was in bars or at home. Males tended to drink for a wider range of reasons. The advantages of using prospective diaries in studies of young adults' alcohol use are discussed.     

Effect of television advertising of alcohol on alcohol consumption and intentions to drive

The alcohol consumption of 120 male and female college students was measured as they viewed a 90-min videotape of popular prime-time television programmes. Independent measures were the sex of the student, their drinker classification (light or moderate-heavy) and the number of alcohol advertisements (0, 6, 12) shown during the screening of the television programmes. Dependent measures were the number of drinks consumed, and the intentions of students to drive a motor vehicle after viewing the videotaped programmes. As predicted, males consumed more alcohol than females, and moderate-heavy drinkers consumed more than light drinkers. Male and female students who viewed six alcohol advertisements consumed more alcohol than students shown no alcohol advertisements or 12 alcohol advertisements. Analysis of intentions to drive after viewing the programmes revealed that the number of drinks consumed was not a significant covariate of driving intentions. Rather light drinkers of both sexes were less likely to intend to drive than moderate-heavy drinkers. Males exposed to alcohol advertisements were less likely to intend to drive than males who did not view alcohol advertisements. Different levels of exposure to alcohol advertisements did not influence the driving intentions of college females.