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Background Imitation skills play a crucial role in social cognitive development from early childhood. Many studies have shown a deficit in imitation skills in children with autism spectrum disorders (ASD). Little is known about the development of imitation behaviors in children with ASD. This study aims to measure the trajectories of early imitation skills in preschoolers with ASD and how these skills impact other areas of early development. Methods For this purpose, we assessed imitation, language, and cognition skills in 177 children with ASD and 43 typically developing children (TD) aged 2 to 5 years old, 126 of which were followed longitudinally, yielding a total of 396 time points. Results Our results confirmed the presence of an early imitation deficit in toddlers with ASD compared to TD children. The study of the trajectories showed that these difficulties were marked at the age of 2 years and gradually decreased until the age of 5 years old. Imitation skills were strongly linked with cognitive and language skills and level of symptoms in our ASD group at baseline. Moreover, the imitation skills at baseline were predictive of the language gains a year later in our ASD group. Using a data-driven clustering method, we delineated different developmental trajectories of imitation skills within the ASD group. Conclusions The clinical implications of the findings are discussed, particularly the impact of an early imitation deficit on other areas of competence of the young child.

This study aims to identify predictors of treatment outcome in young children with ASD within a European context, where service provision of intervention remains sporadic. We investigated whether a child’s age at baseline, intensity of the intervention provided, type of intervention, child’s level of social orienting and cognitive skills at baseline predicted changes in autistic symptoms and cognitive development after 1 year of intervention, in a sample of 60 children with ASD. Our results strongly support early and intensive intervention. We also observed that lower cognitive skills at baseline were related to greater cognitive gains. Finally, we show that a child’s interest in social stimuli may contribute to intervention outcome.

Children with Autism Spectrum Disorders (ASD) orient less to socially salient stimuli, such as dynamic social images, than typically developing children. In turn, this lack of social orienting is thought to impair affected individuals' socio communicative development. Here, we aim to explore the relationship between time spent on dynamic social images and ASD behaviors, such as joint attention and communication, in preschoolers on the autism spectrum. In this study, social orienting is measured using eye-tracking during a task consisting of side-by-side presentations of dynamic social images and dynamic geometric images. The side of the screen where each type of video was presented alternated between items to avoid visual perseveration from influencing the location of participants' first fixations. Visual exploration patterns recorded during the task from 33 preschoolers with ASD were compared with those of 27 typical developing (TD) children. Additionally, we quantified joint attention behaviors and used standardized parent reports to measure communication. We observed reduced orienting to dynamic social images in preschoolers with ASD compared to TD children. Also, ASD participants went to the dynamic social images less frequently for their first fixations. However, we observed great heterogeneity within the ASD group. ASD preschoolers who spent more time on the dynamic social images also presented more pronounced visual engagement with the dynamic social images (longer mean fixation duration and fewer saccades per second). Moreover, in the ASD group, more time spent on dynamic social images correlated with increased frequency of joint attention behaviors, which in turn correlated with improved communication skills. Our results support reduced social orienting in children with ASD, which correlated with their visual exploration patterns. Further, reduced orienting to the social world in young children with ASD is related to socio communicative deficits and should, therefore, be a focus of intervention programs as early as possible.

To date there are no therapies for patients with congenital myopathies, muscle disorders causing poor quality of life of affected individuals. In approximately 30% of the cases, patients with congenital myopathies carry either dominant or recessive mutations in the ryanodine receptor 1 ( RYR1 ) gene; recessive RYR1 mutations are accompanied by reduction of RyR1 expression and content in skeletal muscles and are associated with fiber hypotrophy and muscle weakness. Importantly, muscles of patients with recessive RYR1 mutations exhibit increased content of class II histone deacetylases and of DNA genomic methylation. We recently created a mouse model knocked-in for the p.Q1970fsX16+ p.A4329D RyR1 mutations, which are isogenic to those carried by a severely affected child suffering from a recessive form of RyR1-related multi-mini core disease. The phenotype of the RyR1 mutant mice recapitulates many aspects of the clinical picture of patients carrying recessive RYR1 mutations. We treated the compound heterozygous mice with a combination of two drugs targeting DNA methylases and class II histone deacetylases. Here, we show that treatment of the mutant mice with drugs targeting epigenetic enzymes improves muscle strength, RyR1 protein content, and muscle ultrastructure. This study provides proof of concept for the pharmacological treatment of patients with congenital myopathies linked to recessive RYR1 mutations.

Atypical deployment of social gaze is present early on in toddlers with autism spectrum disorders (ASDs). Yet, studies characterizing the developmental dynamic behind it are scarce. Here, we used a data-driven method to delineate the developmental change in visual exploration of social interaction over childhood years in autism. Longitudinal eye-tracking data were acquired as children with ASD and their typically developing (TD) peers freely explored a short cartoon movie. We found divergent moment-to-moment gaze patterns in children with ASD compared to their TD peers. This divergence was particularly evident in sequences that displayed social interactions between characters and even more so in children with lower developmental and functional levels. The basic visual properties of the animated scene did not account for the enhanced divergence. Over childhood years, these differences dramatically increased to become more idiosyncratic. These findings suggest that social attention should be targeted early in clinical treatments.

Autism spectrum disorders (ASD) are associated with disruption of large-scale brain network. Recently, we found that directed functional connectivity alterations of social brain networks are a core component of atypical brain development at early developmental stages in ASD. Here, we investigated the spatio-temporal dynamics of whole-brain neuronal networks at a subsecond scale in 113 toddlers and preschoolers (66 with ASD) using an EEG microstate approach. We first determined the predominant microstates using established clustering methods. We identified five predominant microstate (labeled as microstate classes A–E) with significant differences in the temporal dynamics of microstate class B between the groups in terms of increased appearance and prolonged duration. Using Markov chains, we found differences in the dynamic syntax between several maps in toddlers and preschoolers with ASD compared to their TD peers. Finally, exploratory analysis of brain–behavioral relationships within the ASD group suggested that the temporal dynamics of some maps were related to conditions comorbid to ASD during early developmental stages.To assess the association between Autism spectrum disorders (ASD) and the potential disruption of large-scale brain networks, Bochet, Sperdin et al investigated spatiotemporal dynamics of whole-brain neuronal networks in 113 toddlers and preschoolers (66 with ASD) using an EEG microstate approach. They found differences in the dynamic syntax between several maps in toddlers and pre-schoolers with ASD compared to their TD peers.

Social impairments are a hallmark of Autism Spectrum Disorders (ASD), but empirical evidence for early brain network alterations in response to social stimuli is scant in ASD. We recorded the gaze patterns and brain activity of toddlers with ASD and their typically developing peers while they explored dynamic social scenes. Directed functional connectivity analyses based on electrical source imaging revealed frequency specific network atypicalities in the theta and alpha frequency bands, manifesting as alterations in both the driving and the connections from key nodes of the social brain associated with autism. Analyses of brain-behavioural relationships within the ASD group suggested that compensatory mechanisms from dorsomedial frontal, inferior temporal and insular cortical regions were associated with less atypical gaze patterns and lower clinical impairment. Our results provide strong evidence that directed functional connectivity alterations of social brain networks is a core component of atypical brain development at early stages of ASD. Newborns are attracted to voices, faces and social gestures. Paying attention to these social cues in everyday life helps infants and young children learn how to interact with others. During this period of development, a network of connections forms between different parts of the brain that helps children to understand other people’s social behaviors. During their first year of life, infants who later develop autism spectrum disorders (ASD) pay less attention to social cues. This early indifference to these important signals leads to social deficits in children with ASD. They are less able to understand other people’s behaviors or engage in typical social interactions. It’s not yet clear why children with ASD are less attuned to social cues. But is likely that the development of brain networks essential for understanding social behavior suffers as a result. Studying how such networks develop in typical very young children and those with ASD may help scientist learn more. Now, Sperdin et al. confirm there are differences in the social brain-networks of very young children with ASD compared with their typical peers. In the experiment, 3-year-old children with ASD and without watched videos of other children playing, while Sperdin et al. recorded what they looked at and what happened in their brains. Eyemovements were measured with a tracker, and the brain activity was recorded using an electroencephalogram (EEG), which uses sensors placed on the scalp to measure electrical signals. What children with ASD looked at was different than their typical peers, and these differences corresponded with alterations in the brain networks that process social information. Children with ASD who had less severe symptoms had stronger activity in these brain networks. What they looked at also was more similar to typical children. This suggests less severely affected children with ASD may be able to compensate that way. Identifying ASD-like behaviors and brain differences early in life may help scientists to better understand what causes the condition. It may also help clinicians provide more individualized therapies early in life when the brain is most adaptable. Long-term studies of these brain-network differences in children with ASD are necessary to better understand how therapies can influence these changes.

The beneficial effect of early intervention is well described for children with autism spectrum disorder (ASD). Response to early intervention is, however, highly heterogeneous in affected children, and there is currently only scarce information about predictors of response to intervention. Based on the hypothesis that impaired social orienting hinders the subsequent development of social communication and interactions in children with ASD, we sought to examine whether the level of social orienting modulates treatment outcome in young children with ASD. We used eye-tracking technology to measure social orienting in a group of 111 preschoolers, comprising 95 young children with ASD and 16 children with typical development, as they watched a 29 s video of a woman engaging in child-directed speech. In line with previous studies, we report that attention to face is robustly correlated with autistic symptoms and cognitive and adaptive skills at baseline. We further leverage longitudinal data in a subgroup of 81 children with ASD and show that the level of social orienting at baseline is a significant predictor of developmental gains and treatment outcome. These results pave the way for identifying subgroups of children who show a better response to early and intensive intervention, a first step toward precision medicine for children with autism.

Gluconacetobacter diazotrophicus is a nitrogen fixing bacterium able to colonise a wide range of host plants and is marketed as a biofertiliser due to its ability to promote plant growth. This study aims to investigate how biological nitrogen fixation (BNF) competency affects the growth promotion of inoculated tomato plants and to describe the colonisation mechanism of this bacterium in dicot systems. A nitrogen fixation impaired mutant (Gd nifD - ) was produced by disrupting the nifD gene, which encodes the nitrogenase Mo-Fe subunit, in order to assess its plant growth promotion (PGP) capability in comparison to G. diazotrophicus wild type strain (Gd WT). Furthermore, tagged strains were employed to monitor the colonisation process through qPCR analyses and fluorescence microscopy. Following a preliminary glass house trial, Gd WT or Gd nifD - were applied to hydroponically grown tomato plants under nitrogen-replete and nitrogen-limiting conditions. Bacteria reisolation data and plant growth parameters including height, fresh weight, and chlorophyll content were assessed 15 days post inoculation (dpi). Gd WT significantly enhanced plant height, fresh weight, and chlorophyll content in both nitrogen conditions, while Gd nifD - showed a reduced PGP effect, particularly in terms of chlorophyll content. Both strains colonised plants at similar levels, suggesting that the growth advantages were linked to BNF capacity rather than colonisation differences. These findings indicate that a functional nifD gene is a fundamental requirement for optimal plant growth promotion by G. diazotrophicus .

Background Previous research links social difficulties to atypical face exploration in 22q11.2 deletion syndrome (22q11.2DS). Two types of face processing are distinguished: configural (CFP) and featural (FFP). CFP develops later in life and plays an important role in face and emotion recognition abilities. Recent studies reported atypical development of CFP in several neurodevelopmental disorders. Taking previous reports of atypical face exploration one step further, our study aims at characterizing face processing in children and adolescents with 22q11.2DS. First, we sought to identify biases in the first two fixation positions on faces and to detect differences between CFP and FFP in 22q11.2DS using eye-tracking technology. Second, we investigated the developmental trajectories of CFP and FFP using accuracy data from follow-up evaluation. Methods Seventy-five individuals with 22q11.2DS and 84 typically developed (TD) individuals (aged 6–21 years) completed a discrimination task (“Jane task”) inducing CFP and FFP in an eye-tracking setting. Thirty-six individuals with 22q11DS and 30 TD from our sample completed a longitudinal follow-up evaluation. Results Findings revealed that individuals with 22q11.2DS demonstrate an early bias toward the mouth region during the initial fixations on the faces and reduced flexibility exploration of the faces, with a reduced number of transitions between faces and longer fixations compared to the TD group. Further, scanpaths did not differ between CFP and FFP in the 22q11.2DS group. Longitudinal analysis of accuracy data provided evidence for atypical development of CFP in 22q11.2DS. Conclusions The current study brings new evidence of altered face exploration in 22q11.2DS and identifies developmental mechanisms that may contribute to difficulties impacting social interactions in the syndrome.