1. Al-Ayadhi LY, Alghamdi FA, Altamimi LA, Alsughayer LY, Alhowikan AM, Halepoto DM. The possible link between Fetuin-A Protein and Neuro-inflammation in Children with Autism Spectrum Disorder. Pakistan journal of medical sciences. 2021; 37(4): 1166-71.

OBJECTIVES: To investigate the blood plasma levels of Fetuin-A protein in children with Autism Spectrum Disorder (ASD) and healthy controls that could offer novel diagnostic biomarkers of disease development in ASD. Another objective was to investigate the severity of autistic children by Childhood Autism Rating Scale (CARS) and Short Sensory Profile (SSP). METHODS: This case control study was carried out at Autism Research and Treatment (ART) Center, King Saud University, Riyadh, Saudi Arabia, from October 2019 to February 2020. Plasma concentration of Fetuin-A was analyzed by enzyme-linked immunosorbent assay (ELISA) in ASD subjects (n=46) and normal controls (n=44). Correlation among Fetuin-A levels, CARS and SSP was established by Spearman’s correlation coefficient (r). RESULTS: Overall, autistic children had significantly (p= 0.0.02) lower Fetuin-A concentration [50.76 (22.2-68.5) ng/ml] than those of healthy controls [53.7 (35.6-99.7) ng/ml] [median (interquartile range)]. Children with mild to moderate autism (n=24, 52%) also showed significantly lower Fetuin-A levels [50.0 (30.0-68.2) ng/ml], (p =0.02} than healthy controls [53.7 (35.6-99.7) ng/ml] [median (IQR)]. However, there was no significant change (p = 0.71) observed between the Fetuin-A levels of children with severe autism [51.8 (22.2-68.5)] ng/ml, mild to moderate autism [50 (30-68.2)] ng/ml [median (IQR)] and healthy controls (p=0.12). Also no significant correlations between Fetuin-A, CARS and SSP were observed (CARS, r= 0.024, p=0.88; SSP, r= -0.003, p=0.98). CONCLUSION: Overall the low Fetuin-A plasma values in ASD subjects, most likely show that Fetuin-A could be associated in the physiology of autism. Further studies with larger patient and control cohorts will be necessary to determine whether Fetuin-A can be used as a biomarker for ASD.

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2. Baker EK, Arora S, Amor DJ, Date P, Cross M, O’Brien J, Simons C, Rogers C, Goodall S, Slee J, Cahir C, Godler DE. The Cost of Raising Individuals with Fragile X or Chromosome 15 Imprinting Disorders in Australia. Journal of autism and developmental disorders. 2021.

The study characterised differences in costs associated with raising a child between four rare disorders and examined the associations between these costs with clinical severity. Caregivers of 108 individuals with Prader-Willi, Angelman (AS), Chromosome 15q Duplication and fragile X (FXS) syndromes completed a modified Client Services Receipt Inventory and participants completed intellectual/developmental functioning and autism assessments. AS incurred the highest yearly costs per individual ($AUD96,994), while FXS had the lowest costs ($AUD33,221). Intellectual functioning negatively predicted total costs, after controlling for diagnosis. The effect of intellectual functioning on total costs for those with AS was significantly different to the other syndromes. The study highlights the significant costs associated with these syndromes, particularly AS, linked with severity of intellectual functioning.

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3. Balachandar V, Rajagopalan K, Jayaramayya K, Jeevanandam M, Iyer M. Mitochondrial dysfunction: A hidden trigger of autism?. Genes & diseases. 2021; 8(5): 629-39.

Autism is a heterogeneous neurodevelopmental and neuropsychiatric disorder with no precise etiology. Deficits in cognitive functions uncover at early stages and are known to have an environmental and genetic basis. Since autism is multifaceted and also linked with other comorbidities associated with various organs, there is a possibility that there may be a fundamental cellular process responsible for this. These reasons place mitochondria at the point of interest as it is involved in multiple cellular processes predominantly involving metabolism. Mitochondria encoded genes were taken into consideration lately because it is inherited maternally, has its own genome and also functions the time of embryo development. Various researches have linked mitochondrial mishaps like oxidative stress, ROS production and mt-DNA copy number variations to autism. Despite dramatic advances in autism research worldwide, the studies focusing on mitochondrial dysfunction in autism is rather minimal, especially in India. India, owing to its rich diversity, may be able to contribute significantly to autism research. It is vital to urge more studies in this domain as it may help to completely understand the basics of the condition apart from a genetic standpoint. This review focuses on the worldwide and Indian scenario of autism research; mitochondrial abnormalities in autism and possible therapeutic approaches to combat it.

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4. Bertoni A, Schaller F, Tyzio R, Gaillard S, Santini F, Xolin M, Diabira D, Vaidyanathan R, Matarazzo V, Medina I, Hammock E, Zhang J, Chini B, Gaiarsa JL, Muscatelli F. Oxytocin administration in neonates shapes hippocampal circuitry and restores social behavior in a mouse model of autism. Molecular psychiatry. 2021; 26(12): 7582-95.

Oxytocin is an important regulator of the social brain. In some animal models of autism, notably in Magel2(tm1.1Mus)-deficient mice, peripheral administration of oxytocin in infancy improves social behaviors until adulthood. However, neither the mechanisms responsible for social deficits nor the mechanisms by which such oxytocin administration has long-term effects are known. Here, we aimed to clarify these oxytocin-dependent mechanisms, focusing on social memory performance. Using in situ hybridization (RNAscope), we have established that Magel2 and oxytocin receptor are co-expressed in the dentate gyrus and CA2/CA3 hippocampal regions involved in the circuitry underlying social memory. Then, we have shown that Magel2(tm1.1Mus)-deficient mice, evaluated in a three-chamber test, present a deficit in social memory. Next, in hippocampus, we conducted neuroanatomical and functional studies using immunostaining, oxytocin-binding experiments, ex vivo electrophysiological recordings, calcium imaging and biochemical studies. We demonstrated: an increase of the GABAergic activity of CA3-pyramidal cells associated with an increase in the quantity of oxytocin receptors and of somatostatin interneurons in both DG and CA2/CA3 regions. We also revealed a delay in the GABAergic development sequence in Magel2(tm1.1Mus)-deficient pups, linked to phosphorylation modifications of KCC2. Above all, we demonstrated the positive effects of subcutaneous administration of oxytocin in the mutant neonates, restoring hippocampal alterations and social memory at adulthood. Although clinical trials are debated, this study highlights the mechanisms by which peripheral oxytocin administration in neonates impacts the brain and demonstrates the therapeutic value of oxytocin to treat infants with autism spectrum disorders.

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5. Beversdorf DQ, Shah A, Jhin A, Noel-MacDonnell J, Hecht P, Ferguson BJ, Bruce D, Tilley M, Talebizadeh Z. microRNAs and Gene-Environment Interactions in Autism: Effects of Prenatal Maternal Stress and the SERT Gene on Maternal microRNA Expression. Frontiers in psychiatry. 2021; 12: 668577.

Background: Genetics and environment both are critical in autism spectrum disorder (ASD), but their interaction (G × E) is less understood. Numerous studies have shown higher incidence of stress exposures during pregnancies with children later diagnosed with ASD. However, many stress-exposed mothers have unaffected children. The serotonin transporter (SERT) gene affects stress reactivity. Two independent samples have shown that the association between maternal stress exposure and ASD is greatest with maternal presence of the SERT short (S)-allele (deletion in the promoter region). MicroRNAs play a regulatory role in the serotonergic pathway and in prenatal stress and are therefore potential mechanistic targets in this setting. Design/methods: We profiled microRNA expression in blood from mothers of children with ASD, with known stress exposure during pregnancy. Samples were divided into groups based on SERT genotypes (LL/LS/SS) and prenatal stress level (high/low). Results: Two thousand five hundred mature microRNAs were examined. The ANOVA analysis showed differential expression (DE) of 119 microRNAs; 90 were DE in high- vs. low-stress groups (stress-dependent). Two (miR-1224-5p, miR-331-3p) were recently reported by our group to exhibit stress-dependent expression in rodent brain samples from embryos exposed to prenatal stress. Another, miR-145-5p, is associated with maternal stress. Across SERT genotypes, with high stress exposure, 20 significantly DE microRNAs were detected, five were stress-dependent. These microRNAs may be candidates for stress × SERT genotype interactions. This is remarkable as these changes were from mothers several years after stress-exposed pregnancies. Conclusions: Our study provides evidence for epigenetic alterations in relation to a G × E model (prenatal maternal stress × SERT gene) in ASD.

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6. Bled C, Guillon Q, Soulières I, Bouvet L. Thinking in pictures in everyday life situations among autistic adults. PloS one. 2021; 16(7): e0255039.

Autistic individuals are often described as thinking in pictures. The aim of this study was to investigate the phenomenological characteristics of mental representations and inner experiences of autistic individuals. A total of 39 autistic adults and 80 control adults answered an online questionnaire. Autistic participants reported a more frequent use of visual mental representations than controls for different types of everyday situations. Moreover, autistic individuals defined their visual mental representations as more detailed than control participants. Furthermore, when describing their inner experiences, autistic participants used perceptive visual themes whereas control participants relied more on the description of events and memories. Our results support the hypothesis that some autistic individuals indeed « think in pictures ». We discuss the impact of such a visual way of thinking in daily life.

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7. Bozkurt H, Şimşek Ş, Şahin S. Elevated levels of cortisol, brain-derived neurotropic factor and tissue plasminogen activator in male children with autism spectrum disorder. Autism research : official journal of the International Society for Autism Research. 2021; 14(10): 2078-84.

Several studies demonstrated biological effects of cortisol, brain-derived neurotrophic factor (BDNF) and tissue plasminogen activator (tPA) on human metabolism and central nervous system. Our study investigated the serum levels of tPA along with BDNF and cortisol in children with autism spectrum disorder (ASD). Thirty three male children with ASD ranging in age from 2 to 15 years were selected for the study group and 27 age-matched healthy male children were selected for the control group. The ASD severity was determined by the score on the Autism Behavior Checklist (ABC). The mean cortisol levels for the study group and the control group were 79.1 ± 30.2 ng/ml and 60.0 ± 25.1 ng/ml, respectively. The mean BDNF levels for the study group and the control group were 5.9 ± 2.8 ng/ml and 3.7 ± 1.8 ng/ml, respectively. The mean tPA levels for the study group and the control group were 32.9 ± 18.5 ng/ml and 25.5 ± 15.1 ng/ml, respectively. Cortisol, BDNF and tPA levels were significantly higher in the study group compared to the control group (p < 0.001). There was no statistically significant effect in terms of age, ABC total and subscale scores on serum cortisol, BDNF and tPA levels in the study group (p > 0.05). It may be suggested that elevations may indicate a role in the pathogenesis of ASD or it may be the case that ASD may alter the levels or pathways of these metabolic factors. LAY SUMMARY: The underlying mechanism or a specific metabolic target relevant to autism spectrum disorder (ASD) has not yet been identified. Cortisol, brain-derived neurotrophic factor (BDNF) and tissue plasminogen activator (tPA) have biological effects on neuroplasticity but little is known about the role of cortisol and tPA-BDNF pathway in ASD. In the present study focused on male children with ASD, we have found higher blood levels of cortisol, BDNF and tPA than their healthy peers. This is the first clinical study to evaluate the serum tPA levels along with BDNF and cortisol in ASD. The results suggest that several neurotrophic and other related markers should be born in mind while examining children with ASD.

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8. Bruce MR, Jones KL, Vernon AC, Silverman JL, Crawley JN, Ellegood J, Lerch JP, Van de Water J. Sexually dimorphic neuroanatomical differences relate to ASD-relevant behavioral outcomes in a maternal autoantibody mouse model. Molecular psychiatry. 2021; 26(12): 7530-7.

Immunoglobulin G (IgG) autoantibodies reactive to fetal brain proteins in mothers of children with ASD have been described by several groups. To understand their pathologic significance, we developed a mouse model of maternal autoantibody related ASD (MAR-ASD) utilizing the peptide epitopes from human autoantibody reactivity patterns. Male and female offspring prenatally exposed to the salient maternal autoantibodies displayed robust deficits in social interactions and increased repetitive self-grooming behaviors as juveniles and adults. In the present study, neuroanatomical differences in adult MAR-ASD and control offspring were assessed via high-resolution ex vivo magnetic resonance imaging (MRI) at 6 months of age. Of interest, MAR-ASD mice displayed significantly larger total brain volume and of the 159 regions examined, 31 were found to differ significantly in absolute volume (mm(3)) at an FDR of <5%. Specifically, the absolute volumes of several white matter tracts, cortical regions, and basal nuclei structures were significantly increased in MAR-ASD animals. These phenomena were largely driven by female MAR-ASD offspring, as no significant differences were seen with either absolute or relative regional volume in male MAR-ASD mice. However, structural covariance analysis suggests network-level desynchronization in brain volume in both male and female MAR-ASD mice. Additionally, preliminary correlational analysis with behavioral data relates that volumetric increases in numerous brain regions of MAR-ASD mice were correlated with social interaction and repetitive self-grooming behaviors in a sex-specific manner. These results demonstrate significant sex-specific effects in brain size, regional relationships, and behavior for offspring prenatally exposed to MAR-ASD autoantibodies relative to controls.

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9. Cooper K, Russell A, Calley S, Chen H, Kramer J, Verplanken B. Cognitive processes in autism: Repetitive thinking in autistic versus non-autistic adults. Autism : the international journal of research and practice. 2022; 26(4): 849-58.

A core feature of autism is the tendency to do the same activity or behaviour repetitively. We wanted to find out if autistic people also experience repetitive thinking, for example, having the same thoughts repeatedly. We thought that there would be a link between repetitive behaviour and repetitive thinking. We asked 54 autistic people and 66 non-autistic people to complete questionnaires measuring repetitive behaviours and obsessive thinking. Next, participants were trained by a researcher to record their thoughts using a structured paper form. They then completed 5 days of thought recording, which they did each time a random alarm sounded on their mobile phone. We found that autistic people had more repetitive thoughts than non-autistic people, but they did not report having more negative or visual thoughts compared with non-autistic people. Autistic people who had more repetitive thoughts during the 5 days of thought recording did not report more repetitive behaviour. However, autistic people who reported more obsessive thinking, for example, more negative and unwanted thoughts, also reported higher levels of repetitive behaviour. We conclude that some repetitive behaviours may be linked to anxiety and that more research is needed to better understand repetitive behaviours in autism.

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10. Dawson M, Fletcher-Watson S. When autism researchers disregard harms: A commentary. Autism : the international journal of research and practice. 2022; 26(2): 564-6.

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11. Dwyer P, Wang X, De Meo-Monteil R, Hsieh F, Saron CD, Rivera SM. Using Clustering to Examine Inter-individual Variability in Topography of Auditory Event-Related Potentials in Autism and Typical Development. Brain topography. 2021; 34(5): 681-97.

Although prior studies have compared sensory event-related potential (ERP) responses between groups of autistic and typically-developing participants, it is unclear how heterogeneity contributes to the results of these studies. The present study used examined individual differences in these responses. 130 autistic children and 81 typically-developing children, aged between 2 and 5 years, listened to tones at four identity levels while 61-channel electroencephalography was recorded. Hierarchical clustering was used to group participants based on rescaled ERP topographies between 51 and 350 ms. The hierarchical clustering analysis revealed substantial heterogeneity. Some of the seven clusters defined in this analysis were characterized by prolonged fronto-central positivities and/or weak or absent N2 negativities. However, many other participants fell into clusters in which N2 responses were present at varying latencies. Atypical response morphologies such as absent N2 responses and/or prolonged positive-going responses found in some autistic participants may account for prior research findings of attenuated N2 amplitudes in autism. However, there was also considerable overlap between groups, with participants of both groups appearing in all clusters. These results emphasize the utility of using clustering to explore individual differences in brain responses, which can expand on and clarify the results of analyses of group mean differences.

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12. Fu Z, Jia YX, Fu JX, Li TX, Zhao JJ, Wang T, Qiao ZD, Liu XY, Tang R, Lv T, Yang GL. A case of 15q11-q13 duplication syndrome and literature review. Brain and behavior. 2021; 11(8): e2219.

BACKGROUND: The chromosomal 15q11-q13 regions are structurally complex, and their abnormalities are associated with various neuropsychiatric disorders, including autism spectrum disorder (ASD), epilepsy, Angelman syndrome, and Prader-Willi syndrome. CASE DESCRIPTION: A 6-year-old child was admitted to the hospital as a result of an « epileptic status » showing ASD, intractable epilepsy, and total developmental retardation. Chromosome gene detection showed repetitive variation in the 15q11-q13 regions, and the video electroencephalogram was abnormal. Although children are currently given antiepileptic treatment and rehabilitation training, intermittent seizures can still occur. CONCLUSION: The clinical phenotypes of 15q11-q13 repetitive syndrome are complex, and vary in severity. Children with intractable epilepsy, ASD, and language and motor retardation should be considered to have this syndrome, which requires confirmation by multiplex ligation-dependent probe amplification and gene detection. These approaches can enable early rehabilitation treatment and improve the patients’ quality of life.

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13. Goodwin J, Rob P, Freeston M, Garland D, Grahame V, Kernohan A, Labus M, Osborne M, Parr JR, Wright C, Rodgers J. Caregiver perspectives on the impact of uncertainty on the everyday lives of autistic children and their families. Autism : the international journal of research and practice. 2022; 26(4): 827-38.

Anxiety is common in autistic children. Research shows that this may be related to intolerance of uncertainty, which is a tendency to react negatively to uncertain situations. Understanding when, why and how autistic children respond to uncertainty is important in the development of anxiety programmes. We asked 53 (including 3 dyads) parents of autistic children about the types of uncertain situations that cause difficulties for their child and how uncertainty impacts on daily life for them and their families. We found that uncertain situations made autistic children and their families feel sad, worried, frustrated and angry through the themes: child’s reactions to uncertainty, trying to reduce uncertainty, the impact of difficulties with uncertainty, the impact of uncertainty on parenting and the impact on parents. There are lots of situations that are anxiety provoking for autistic children because of uncertainty, such as school. Programmes to reduce anxiety and increase autistic children’s ability to cope with everyday uncertain situations could improve quality of life for autistic children and their families.

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14. Hong W, Chen JH, Ma HJ, Li L, Li XC. Fragile X-Related Protein 1 (FXR1) Promotes Trophoblast Migration at Early Pregnancy via Downregulation of GDF-15 Expression. Reproductive sciences (Thousand Oaks, Calif). 2022; 29(1): 110-21.

Fragile X-related protein 1 (FXR1) is an RNA-binding protein that can regulate specific mRNA decay in cells. Our previous study showed that FXR1 expression was significantly decreased in trophoblasts from patients with unexplained recurrent spontaneous abortion (RSA); however, the role of FXR1 in trophoblast function during early placenta development has not been fully elucidated. In this study, we found that knockdown of FXR1 using siRNA effectively inhibited the migration of HTR-8 cells and extravillous trophoblast (EVT) outgrowth in an ex vivo extravillous explant culture model. Furthermore, through analysis of a panel of cytokines, we found that the GDF-15 protein was upregulated after knockdown of FXR1 in HTR-8/SVneo cells. This was further confirmed by western blotting and immunofluorescence in HTR-8/SVneo cells and an extravillous explant. Our data also showed that FXR1 expression was downregulated and GDF-15 was upregulated in chorionic villous tissues from RSA patients compared with those from healthy controls (HCs). Further, immunohistochemistry showed a strong expression of GDF-15 in chorionic villous tissue in the RSA group, which was mainly distributed in villous trophoblasts (CTBs) and syncytiotrophoblasts (STBs). Moreover, knockdown of GDF-15 enhanced the migration of HTR-8 cells, while overexpression of GDF-15 using plasmid or treatment with recombinant human GDF-15 protein inhibited trophoblast migration. Importantly, RNA-binding protein immunoprecipitation showed that FXR1 directly bound to the 3′-UTR of GDF-15 mRNA to promote GDF-15 mRNA decay. Together, our data provide new insight into the function of FXR1 in human placenta via regulation of GDF-15 expression in trophoblasts and suggest a possible pathological process involved in RSA.

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15. Kohane IS. Finding a new balance between a genetics-first or phenotype-first approach to the study of disease. Neuron. 2021; 109(14): 2216-9.

Successes in neuroscience using a genetics-first approach to characterizing disorders such as autism have eclipsed the scientific and clinical value of a comprehensive phenotype-first-clinical or molecular-approach. Recent high-throughput phenotyping techniques using machine learning, electronic medical records, and even administrative databases show the value of a synthesis between the two approaches.

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16. Kostic A, Buxbaum JD. The promise of precision medicine in autism. Neuron. 2021; 109(14): 2212-5.

Autism spectrum disorder (ASD) is a clinically and etiologically diverse developmental condition characterized by diminished social interactions, impaired communication, and repetitive and/or restrictive behaviors. Recent advances in ASD genetics pave the way for implementation of precision medicine in clinical management of autism.

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17. Kumazaki H, Sumioka H, Muramatsu T, Yoshikawa Y, Shimaya J, Iwanaga R, Ishiguro H, Sumiyoshi T, Mimura M. Brief Report: The Effectiveness of Hugging a Huggable Device Before Having a Conversation with an Unfamiliar Person for Autism Spectrum Disorders. Journal of autism and developmental disorders. 2021.

Sensory overresponsivity (SOR) emerges before anxiety and positively predicts subsequent increasing levels of anxiety in individuals with autism spectrum disorder (ASD). Sensory seeking behavior occurs as compensation for SOR, and individuals may seek sensory input in one sensory domain to compensate for SOR. Tactile seeking behavior is sufficient to decrease social anxiety in communicating with unfamiliar people. We assessed the effectiveness of hugging a huggable device before a conversation for reducing the psychological stress associated with speaking to an unfamiliar person or robot. Our analysis showed a significant effect, with Hugvie contributing to decreased stress for both interlocutors. Thus, this study demonstrated the efficacy of hugging it before conversation, which emphasizes the importance of tactile seeking for individuals with ASD.

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18. Lundin Remnélius K, Neufeld J, Isaksson J, Bölte S. Eating Problems in Autistic Females and Males: A Co-twin Control Study. Journal of autism and developmental disorders. 2021.

This study investigated the association between autism and self-reported eating problems and the influence of gender on the association, in a sample of adolescent and adult twins (N = 192). Autistic traits and autism diagnosis were associated with both total and specific eating problems, including selective eating and sensory sensitivity during mealtimes. Interaction effects indicated a stronger association between autistic traits and total eating problems in females, as well as more difficulties with eating in social contexts among autistic females. In within-pair analyses, where unmeasured confounders including genes and shared environment are implicitly controlled for, the association was lost within monozygotic pairs, which might further indicate a genetic influence on the relationship between autism and eating problems.

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19. Martínez-González AE, Moreno-Amador B, Piqueras JA. Differences in emotional state and autistic symptoms before and during confinement due to the COVID-19 pandemic. Research in developmental disabilities. 2021; 116: 104038.

BACKGROUND: The COVID-19 pandemic has generated a global crisis that has affected the emotional health of both the general and the clinical population. METHOD: The present study aimed to analyze the differences between the emotional states of a group of individuals with ASD and a neurotypical group both during and after the COVID-19 confinement. The study also examined the changes in autistic symptoms between a group of individuals with ASD who were confined during the COVID-19 pandemic and another group of individuals with ASD who were studied prior to the COVID-19 pandemic period. RESULTS: Higher levels of aggression, irritability, hyperactivity and impulsivity, lack of attention and anxiety, among other symptoms, were found in individuals with ASD during confinement when compared to healthy controls (p < .05; p < .01). Higher levels of repetitive, restrictive, and stereotyped behaviors were also found in pandemic-era ASD individuals when compared to the group of individuals with ASD who were assessed prior to the pandemic (p < .01). CONCLUSIONS: the confinement is related to an increase in symptomatology and dysfunctional behaviours characteristic of ASD, and therefore it is necessary to implement actions that help to reduce this impact now, as well as in future crisis events.

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20. Skogheim TS, Weyde KVF, Aase H, Engel SM, Surén P, Øie MG, Biele G, Reichborn-Kjennerud T, Brantsæter AL, Haug LS, Sabaredzovic A, Auyeung B, Villanger GD. Prenatal exposure to per- and polyfluoroalkyl substances (PFAS) and associations with attention-deficit/hyperactivity disorder and autism spectrum disorder in children. Environmental research. 2021; 202: 111692.

BACKGROUND: Prenatal exposure to per- and polyfluoroalkyl substances (PFAS) may be a risk factor for neurodevelopmental deficits and disorders, but evidence is inconsistent. OBJECTIVES: We investigated whether prenatal exposure to PFAS were associated with childhood diagnosis of attention-deficit/hyperactivity disorder (ADHD) or autism spectrum disorder (ASD). METHODS: This study was based on the Norwegian Mother, Father and Child Cohort Study and included n = 821 ADHD cases, n = 400 ASD cases and n = 980 controls. Diagnostic cases were identified by linkage with the Norwegian Patient Registry. In addition, we used data from the Medical Birth Registry of Norway. The study included the following PFAS measured in maternal plasma sampled mid-pregnancy: Perfluorooctanoic acid (PFOA), perfluorononanoic acid (PFNA), perfluorodecanoic acid (PFDA), perfluoroundecanoic acid (PFUnDA), perfluorohexane sulfonate (PFHxS), perfluoroheptanesulfonic acid (PFHpS), and perfluorooctane sulfonate (PFOS). Relationships between individual PFAS and ADHD or ASD diagnoses were examined using multivariable adjusted logistic regression models. We also tested for possible non-linear exposure-outcome associations. Further, we investigated the PFAS mixture associations with ASD and ADHD diagnoses using a quantile-based g-computation approach. RESULTS: Odds of ASD was significantly elevated in PFOA quartile 2 [OR = 1.71 (95% CI: 1.20, 2.45)] compared to quartile 1, and PFOA appeared to have a non-linear, inverted U-shaped dose-response relationship with ASD. PFOA was also associated with increased odds of ADHD, mainly in quartile 2 [OR = 1.54 (95% CI: 1.16, 2.04)] compared to quartile 1, and displayed a non-linear relationship in the restricted cubic spline model. Several PFAS (PFUnDA, PFDA, and PFOS) were inversely associated with odds of ADHD and/or ASD. Some of the associations were modified by child sex and maternal education. The overall PFAS mixture was inversely associated with ASD [OR = 0.76 (95% CI: 0.64, 0.90)] as well as the carboxylate mixture [OR = 0.79 (95% CI: 0.68, 0.93)] and the sulfonate mixture [OR = 0.84 (95% CI: 0.73, 0.96)]. CONCLUSION: Prenatal exposure to PFOA was associated with increased risk of ASD and ADHD in children. For some PFAS, as well as their mixtures, there were inverse associations with ASD and/or ADHD. However, the inverse associations reported herein should not be interpreted as protective effects, but rather that there could be some unresolved confounding for these relationships. The epidemiologic literature linking PFAS exposures with neurodevelopmental outcomes is still inconclusive, suggesting the need for more research to elucidate the neurotoxicological potential of PFAS during early development.

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21. Stanton JE, Malijauskaite S, McGourty K, Grabrucker AM. The Metallome as a Link Between the « Omes » in Autism Spectrum Disorders. Frontiers in molecular neuroscience. 2021; 14: 695873.

Metal dyshomeostasis plays a significant role in various neurological diseases such as Alzheimer’s disease, Parkinson’s disease, Autism Spectrum Disorders (ASD), and many more. Like studies investigating the proteome, transcriptome, epigenome, microbiome, etc., for years, metallomics studies have focused on data from their domain, i.e., trace metal composition, only. Still, few have considered the links between other « omes, » which may together result in an individual’s specific pathologies. In particular, ASD have been reported to have multitudes of possible causal effects. Metallomics data focusing on metal deficiencies and dyshomeostasis can be linked to functions of metalloenzymes, metal transporters, and transcription factors, thus affecting the proteome and transcriptome. Furthermore, recent studies in ASD have emphasized the gut-brain axis, with alterations in the microbiome being linked to changes in the metabolome and inflammatory processes. However, the microbiome and other « omes » are heavily influenced by the metallome. Thus, here, we will summarize the known implications of a changed metallome for other « omes » in the body in the context of « omics » studies in ASD. We will highlight possible connections and propose a model that may explain the so far independently reported pathologies in ASD.

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22. Sturrock A, Chilton H, Foy K, Freed J, Adams C. In their own words: The impact of subtle language and communication difficulties as described by autistic girls and boys without intellectual disability. Autism : the international journal of research and practice. 2022; 26(2): 332-45.

Subtle language and communication difficulties are experienced by many autistic individuals even when they do not have additional learning disabilities. These difficulties may affect a person’s day-to-day living, social relationships and emotional well-being. However, currently, there is not much research into this topic. To date, no one has asked autistic children about their own language and communication difficulties or how they feel it affects them. Asking the children could provide valuable new insights. In this study, 12 autistic children (9-14 years), without learning disability, were interviewed on this topic. We developed interview questions, resources and interview procedures with the support of the autistic community. We also worked with an autistic researcher to analyse our results. We aimed to get the most genuine report of the autistic child’s experiences. Our results showed that the children could give detailed insight into their language and communication difficulties if they were given the right support. They told us about how subtle language and communication difficulties affected their ability to learn, take part in certain activities and seek help. They talked about how subtle difficulties affect their ability to talk to new people, talk in groups and ultimately make friends. They also told us about the emotional upset that these subtle difficulties could have. They suggest that communication breakdown leads to negative feelings, but also that negative feelings can lead to more difficulties explaining themselves. The results of this study suggest that we should do more research on the effects of subtle language and communication difficulties. There are also implications for clinical practice. We should identify subtle language and communication difficulties through thorough assessment because these are often missed. We should also develop therapy and strategies that are aimed at individuals with subtle language and communication difficulties because this could help prevent additional difficulties with learning, help-seeking, friendship-making and emotional well-being.

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