1. Klymus TM, Ravchyna TV, Herus O, Kozak MY, Tiurina TG, Shkoliar MV, Marcucci G. USING THE SENSORY INTEGRATION TECHNIQUE FOR PEOPLE WITH AUTISM SPECTRUM DISORDERS DURING TRAINING AT THE CLIMBING SECTION. Pol Merkur Lekarski;2023;51(5):558-562.

OBJECTIVE: Aim: To analyze the practical application of the sensory integration technique for individuals with autism spectrum disorder at a climbing section, and to investigate the impact of physical activity on improving their proprioceptive and vestibular systems. PATIENTS AND METHODS: Materials and Methods: The method of included participant observation at the climbing classes with constant recording the behavior (desirable and undesirable) was used. The sensory screening (developed by J. Ayres) was applied for recording and determining the sensory systems of the people with ASD before the start of training and again after a month. The scale of Sensory Integration and Praxis Tests (SIPT) was used for assessing certain aspects of participants’ sensory processing or perception according to the goals set during the climbing classes. RESULTS: Results: The results of the research showed that the application of the sensory integration technique for individuals with ACD at a climbing section promoted the dynamics of changes in their sensory system during training considering the characteristics of their sensory system. The positive changes were observed in the way the people with ACD felt about their own bodies and their involvement in sports activities that in its turn made it possible to be active and develop their sensory system. It has been identified that while planning training for the people with ASD it is necessary to take into account sensory modulation (reading sensory signals) and apply exercises for stimulating sensory sensations that will improve the motor activity of persons with ASD, their social interaction, and safety, as well. CONCLUSION: Conclusions: During training at the climbing section sensory information processing of the individuals with ASD have the impact on their body control, hand-eye coordination, and hand sensitivity during training. The improvement of sensory information processing in its turn enables people with ASD to master climbing.

Lien vers le texte intégral (Open Access ou abonnement)

2. Lampri S, Peristeri E, Marinis T, Andreou M. Figurative language processing in autism spectrum disorders: A review. Autism Res;2023 (Dec 10)

Impairments in the broader domain of pragmatics are considered to be a defining feature of Autism Spectrum Disorders (ASD). A challenging aspect of pragmatic competence is the ability to process nonliteral language. Interestingly, previous studies in figurative language comprehension in ASD have demonstrated conflicting results regarding participants’ performance. The main scientific debate focuses on the underlying skills which facilitate processing of nonliteral speech in ASD. Namely, Theory of Mind (ToM), language abilities and Executive functions (EFs) are regarded as factors affecting autistic individuals’ performance. This review addresses figurative language comprehension in ASD in light of the above three interpretive accounts. We reviewed data from recent studies in this field concluding that autistic children indeed encounter systematic difficulties in the processing of non-literal language. Moreover, only ToM and verbal skills were found to correlate the most with figurative language comprehension in ASD. Notably, we found that differences related to research methodology and tasks’ properties may have led to discrepancies between studies’ results. Finally, we argue that future studies should encompass in their experimental design figurative comprehension tasks with minimal linguistic demands and also measures of ToM, verbal ability and EFs in order to shed more light in the independent contribution of those skills to the processing of nonliteral language in ASD.

Lien vers le texte intégral (Open Access ou abonnement)

3. Launay JM, Delorme R, Pagan C, Callebert J, Leboyer M, Vodovar N. Impact of IDO activation and alterations in the kynurenine pathway on hyperserotonemia, NAD(+) production, and AhR activation in autism spectrum disorder. Transl Psychiatry;2023 (Dec 9);13(1):380.

Hyperserotonemia is the most replicated biochemical anomaly associated with autism spectrum disorder (ASD) and has been reported in 35-46% of individuals with ASD. Serotonin is synthesised from the essential amino acid tryptophan (TRP). However, the main catabolic route of TRP is the kynurenine pathway (KP), which competes with serotonin synthesis when indoleamine dioxygenase (IDO) is activated. Using the same cohort of individuals with ASD, we used to report extensive studies of the serotonin/melatonin pathway, and found increased kynurenine (KYN), suggesting IDO activation in 58.7% of individuals with ASD (159/271), supported by a strong negative correlation between KYN/TRP ratio and miR-153-3p plasma levels, which negatively regulates IDO. IDO activation was associated with normoserotonemia, suggesting that IDO activation could mask hyperserotonemia which meant that hyperserotonemia, if not masked by IDO activation, could be present in ~94% of individuals with ASD. We also identified several KP alterations, independent of IDO status. We observed a decrease in the activity of 3-hydroxyanthranilate dioxygenase which translated into the accumulation of the aryl hydrocarbon receptor (AhR) selective ligand cinnabarinic acid, itself strongly positively correlated with the AhR target stanniocalcin 2. We also found a deficit in NAD(+) production, the end-product of the KP, which was strongly correlated with plasma levels of oxytocin used as a stereotypical neuropeptide, indicating that regulated neuropeptide secretion could be limiting. These results strongly suggest that individuals with ASD exhibit low-grade chronic inflammation that is mediated in most cases by chronic AhR activation that could be associated with the highly prevalent gastrointestinal disorders observed in ASD, and explained IDO activation in ~58% of the cases. Taken together, these results extend biochemical anomalies of TRP catabolism to KP and posit TRP catabolism as a possible major component of ASD pathophysiology.

Lien vers le texte intégral (Open Access ou abonnement)

4. Nijhof AD, Catmur C, Brewer R, Coll MP, Wiersema JR, Bird G. Differences in own-face but not own-name discrimination between autistic and neurotypical adults: A fast periodic visual stimulation-EEG study. Cortex;2023 (Nov 21);171:308-318.

Self-related processing is thought to be altered in autism, with several studies reporting that autistic individuals show a diminished neural response relative to neurotypicals for their own name and face. However, evidence remains scarce and is mostly based on event-related potential studies. Here, we used EEG to measure the neural activity of autistic adults (20 for faces, 27 for names) and neurotypical adults (24 for faces, 25 for names) while they were watching rapidly alternating faces and names, through a relatively new technique called Fast Periodic Visual Stimulation. We presented strangers’ faces or names at a base frequency of 5.77 Hz, while one’s own, a close other’s, and a specific stranger’s face/name was presented at an oddball frequency of 1.154 Hz. The neurotypical group showed a significantly greater response to their own face than both close other and stranger faces, and a greater response for close other than for stranger faces. In contrast, in the autism group, own and close other faces showed stronger responses than the stranger’s face, but the difference between own and close other faces was not significant in a bilateral parieto-occipital cluster. No group differences in the enhanced response to familiar names were found. These results replicate and extend results obtained using traditional electroencephalographic techniques which suggest atypical responses to self-relevant stimuli in autism.

Lien vers le texte intégral (Open Access ou abonnement)

5. Tong J, Wang T, Wang L, Yan D. [Analysis of genetic variants in a child with Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism without seizures]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi;2023 (Dec 10);40(12):1546-1550.

OBJECTIVE: To explore the clinical phenotype and genetic characteristics of a child with Intellectual developmental disorder with behavioral abnormalities and craniofacial malformations without epilepsy (IDDBCS). METHODS: A child who had visited the Lianyungang Maternal and Child Health Care Hospital in April 2021 was selected as the study subject. Clinical data of the child were collected. Genomic DNA was extracted from peripheral blood samples of the child and his parents and subjected to whole exome sequencing (WES). Candidate variants were verified by Sanger sequencing of his family members. RESULTS: The child, a 3-year-and-4-month-old male, had presented with global developmental delay and cranial malformation. Genetic testing revealed that he has harbored a heterozygous c.1703delA (p.K568Sfs9) variant of the PHF21A gene, for which both of his parents were of the wild type. This low-frequency variant may alter the structure and function of the protein product. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), it was classified as a pathogenic variant (PVS1+PS2+PM2_Supporting). CONCLUSION: The heterozygous c.1703delA (p.K568Sfs9) variant of the PHF21A gene probably underlay the IDDBCS in this patient.

Lien vers le texte intégral (Open Access ou abonnement)

6. Wang T, Zhang S, Luo M, Lu M, Wei L, Zhou X, Wang H, Xu D. Prenatal caffeine exposure induces autism-like behaviors in offspring under a high-fat diet via the gut microbiota-IL-17A-brain axis. Ecotoxicol Environ Saf;2023 (Dec 8);269:115797.

Prenatal caffeine exposure (PCE) is a significant contributor to intrauterine growth retardation (IUGR) in offspring, which has been linked to an increased susceptibility to autism spectrum disorder (ASD) later in life. Additionally, a high-fat diet (HFD) has been shown to exacerbate ASD-like behaviors, but the underlying mechanisms remain unclear. In this study, we first noted in the rat model of IUGR induced by PCE that male PCE offspring exhibited typical ASD-like behaviors post-birth, in contrast to their female counterparts. The female PCE offspring demonstrated only reduced abilities in free exploration and spatial memory. Importantly, both male and female PCE offspring displayed ASD-like behaviors when exposed to HFD. We further observed that PCE + HFD offspring exhibited damaged intestinal mucus barriers and disturbed gut microbiota, resulting in an increased abundance of Escherichia coli (E. coli). The induced differentiation of colonic Th17 cells by E. coli led to an increased secretion of IL-17A, which entered the hippocampus through peripheral circulation and caused synaptic damage in hippocampal neurons, ultimately resulting in ASD development. Our strain transplantation experiment suggested that E. coli-mediated increase of IL-17A may be the core mechanism of ASD with a fetal origin. In conclusion, PCE and HFD are potential risk factors for ASD, and E. coli-mediated IL-17A may play a crucial role in fetal-originated ASD through the gut-brain axis.

Lien vers le texte intégral (Open Access ou abonnement)

7. Yang C, Wang XK, Ma SZ, Lee N, Zhang QR, Dong WQ, Zang YF, Yuan LX. Abnormal functional connectivity of the reward network is associated with social communication impairments in autism spectrum disorder: A large-scale multi-site resting-state fMRI study. J Affect Disord;2023 (Dec 7)

BACKGROUND: The social motivation hypothesis proposes that the social deficits of autism spectrum disorder (ASD) are related to reward system dysfunction. However, functional connectivity (FC) patterns of the reward network in ASD have not been systematically explored yet. METHODS: The reward network was defined as eight regions of interest (ROIs) per hemisphere, including the nucleus accumbens (NAc), caudate, putamen, anterior cingulate cortex (ACC), ventromedial prefrontal cortex (vmPFC), orbitofrontal cortex (OFC), amygdala, and insula. We computed both the ROI-wise resting-state FC and seed-based whole-brain FC in 298 ASD participants and 348 typically developing (TD) controls from the Autism Brain Imaging Data Exchange I dataset. Two-sample t-test was applied to obtain the aberrant FCs. Then, the association between aberrant FCs and clinical symptoms was assessed with Pearson’s correlation or Spearman’s correlation. In addition, Neurosynth Image Decoder was used to generate word clouds verifying the cognitive functions of the aberrant pathways. Furthermore, a three-way multivariate analysis of variance (MANOVA) was conducted to examine the effects of gender, subtype and age on the atypical FCs. RESULTS: For the within network analysis, the left ACC showed weaker FCs with both the right amygdala and left NAc in ASD compared with TD, which were negatively correlated with the Autism Diagnostic Observation Schedule (ADOS) total scores and Social Responsiveness Scale (SRS) total scores respectively. For the whole-brain analysis, weaker FC (i.e., FC between the left vmPFC and left calcarine gyrus, and between the right vmPFC and left precuneus) accompanied by stronger FC (i.e., FC between the left caudate and right insula) were exhibited in ASD relative to TD, which were positively associated with the SRS motivation scores. Additionally, we detected the main effect of age on FC between the left vmPFC and left calcarine gyrus, of subtype on FC between the right vmPFC and left precuneus, of age and age-by-gender interaction on FC between the left caudate and right insula. CONCLUSIONS: Our findings highlight the crucial role of abnormal FC patterns of the reward network in the core social deficits of ASD, which have the potential to reveal new biomarkers for ASD.

Lien vers le texte intégral (Open Access ou abonnement)