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Background Classical galactosemia (CG) is due to a severe deficiency of the galactose-1-phosphate uridyl-transferase (GALT), the main enzyme of galactose metabolism. Even early introduction of galactose-restricted diet fails to prevent long-term complications, including cognitive impairment, neurological and psychiatric problems, osteoporosis, premature ovarian failure and infertility. Detailed neuropsychological phenotyping is needed in order to better understand the relevant neurodevelopmental deficiencies and to develop effective treatment strategies. Aim To define specifically and significantly impaired neuropsychological traits in adult CG patients of the Swiss cohort. Methods Prospective cohort study. 22 CG patients, with confirmed genotype and low GALT activity, and 15 controls completed a computer-based neuropsychological test battery (CANTAB). Additionally, broad IQ evaluation was made for the CG patients. Results In most outcome measures of the CANTAB tasks, CG patients performed significantly worse than controls. The deficits in CG patients were most prominent in tasks that involve rapid visual information processing and facial emotion recognition. Conclusion CG patients have specific cognitive problems such as impaired visual information processing and facial emotion recognition. The deficits in facial emotion recognition have not been described before and could help explain difficulties in social interactions often experienced by patients with CG. Electronic supplementary material The online version of this article (10.1186/s13023-019-0999-3) contains supplementary material, which is available to authorized users.

The aim of the study was to examine whether cognitive skills are related to persistence. Thus, children's (N = 157, mean age: 5.9 years) persistent and non-persistent behaviours (i.e., cheating and off-task) were assessed in an unsolvable task. Additionally, we assessed children's executive functions and temperament. Analysis for persistence showed that cognitive inhibition and cognitive flexibility predicted children's persistent behaviour, beyond age and temperament. Analyses for non-persistent behaviours revealed that temperament and weak executive functions predicted cheating, while age predicted off-task behaviour. Statement of contributionWhat is already known on this subject?So far, persistence has been conceptualized as a temperamental sub-dimension of self-regulation. What does this study add?A child's persistence depends not only on temperament but also on cognitive inhibition and cognitive flexibility.There are qualitative differences between the two non-persistent behaviours cheating and off-task. While cheating is related to weaker cognitive skills, off-task behaviour seems mainly age-related.Some children persist in the face of a challenge, others do not. Why this might be is largely unknown. The aim of the present study was to approach this question by (1) examining factors possibly related to persistence and (2) examining non-persistent behaviours in relation to persistence. So far, persistence has been conceptualized as a temperamentally based sub-dimension of self-regulation (Rothbart, Ahadi, Hershey, & Fisher, 2001). Although separate lines of evidence favour the hypothesis that also cognitive skills could be related to persistence (see, e.g., Barkley, 1997;Cuevas & Bell, 2014;Zelazo, 2015), no study has systematically analysed whether executive functions (EFs), that is, inhibition, shifting, and working memory (Miyake et al., 2000), were related to persistence. Without questioning the temperamental aspect of persistence, we aimed to examine a possible relation between EF and persistence.

Pronounced developmental progression during the transition to formal schooling can be found in executive functions (EF) and metacognition (MC). However, it is still unclear whether and how EF and MC influence each other during this transition. Previous research with young children suggests that inhibition may be a prerequisite for monitoring skills. Thus, the present longitudinal study investigated the association between the common subcomponents of EF (inhibition, working memory, and shifting) assessed in kindergarten (T1) and metacognitive monitoring assessed in 2nd grade (T2) in a sample of N = 84 children. In line with our hypothesis, the results revealed a significant link only between the EF subcomponent inhibition and later metacognitive monitoring. More precisely, children with better inhibition skills in kindergarten showed less overconfident monitoring in elementary school. Interestingly, the longitudinal relationship between inhibition and monitoring was not bidirectional. The findings indicate an essential role of early inhibition skills regarding emerging and developing elementary school children’s monitoring skills.

Abstract. Repeatedly, the notion has been put forward that metacognition (MC) and executive functions (EF) share common grounds, as both describe higher order cognitive processes and involve monitoring. However, only few studies addressed this issue empirically and so far their findings are rather inconsistent. Addressing the question whether measurement differences may in part be responsible for the mixed results, the current study included explicitly reported as well as time-based measures of metacognitive monitoring and related them to EF. A total of 202 children aged 4–6 years were assessed in terms of EF (inhibition, working memory, shifting) and monitoring. While there was no significant link between explicitly reported confidence and EF, latencies of monitoring judgments were significantly related to time- and accuracy-based measures of EF. Our findings support the association between EF and MC and the assumption that better inhibition abilities help children to engage in more thorough monitoring.