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1.
PLoS One ; 18(1): e0279745, 2023.
Article in English | MEDLINE | ID: mdl-36662731

ABSTRACT

Silver-Russell syndrome (SRS) is a rare imprinting disorder characterized by prenatal and postnatal growth retardation. The two principal causes of SRS are loss of methylation on chromosome 11p15 (11p15 LOM) and maternal uniparental disomy of chromosome 7 (UPD(7)mat). Knowledge of the neuropsychological profile of SRS remains sparse and incomplete even if several difficulties related to attention and learning have been reported both in the literature and by patients with SRS. These difficulties could be the result of troubles in different cognitive domains, but also of executive dysfunction. Nevertheless, executive functioning has never been investigated, even though executive functions play an essential role in psychological development, and are extensively involved in daily life. The present study explored the executive functioning of individuals with SRS due to UPD(7)mat or 11p15 LOM. A battery of executive tasks assessing cognitive flexibility, inhibitory control, and working memory, together with a task assessing sustained attention, was administered to 19 individuals with SRS (13-39 years) and 19 healthy controls. The Behavior Rating Inventory of Executive Function was also completed by the participants' families. The results showed that participants with SRS had similar performance (z-scores) to our controls, in a context of normal intellectual efficiency. Group comparisons with Bayesian statistics showed a single difference between the 11p15 LOM and control groups: the completion time for part A of the Trail Making Test appeared to be longer in the 11p15 LOM group than in the control group. However, at the clinical level, several participants with SRS had clinically significant scores on various measures of EFs. Thus, the cognitive phenotype of SRS did not appear to be characterized by executive dysfunction, but individuals with SRS could be at high risk of developing executive dysfunction or attention-deficit/hyperactivity disorder. These results provide new insights into the neuropsychological profile of individuals with SRS.


Subject(s)
Silver-Russell Syndrome , Female , Pregnancy , Humans , Silver-Russell Syndrome/genetics , Executive Function , Bayes Theorem , Methylation , Uniparental Disomy , DNA Methylation , Genomic Imprinting , Phenotype
2.
R Soc Open Sci ; 9(3): 201303, 2022 Mar.
Article in English | MEDLINE | ID: mdl-35308625

ABSTRACT

During the COVID-19 pandemic, people across the globe have been exposed to large amounts of statistical data. Previous studies have shown that individuals' mathematical understanding of health-related information affects their attitudes and behaviours. Here, we investigate the relation between (i) basic numeracy, (ii) COVID-19 health numeracy, and (iii) COVID-19 health-related attitudes and behaviours. An online survey measuring these three variables was distributed in Canada, the United States (US) and the United Kingdom (UK) (n = 2032). In line with predictions, basic numeracy was positively related to COVID-19 health numeracy. However, predictions, neither basic numeracy nor COVID-19 health numeracy was related to COVID-19 health-related attitudes and behaviours (e.g. follow experts' recommendations on social distancing, wearing masks etc.). Multi-group analysis was used to investigate mean differences and differences in the strength of the correlation across countries. Results indicate there were no between-country differences in the correlations between the main constructs but there were between-country differences in latent means. Overall, results suggest that while basic numeracy is related to one's understanding of data about COVID-19, better numeracy alone is not enough to influence a population's health-related attitudes about disease severity and to increase the likelihood of following public health advice.

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