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The Autism Spectrum Disorders in the European Union (ASDEU) survey investigated local services' use experiences of autistic adults, carers and professionals with interventions for autistic adults. The majority of the 697 participants experienced recommended considerations prior to deciding on intervention and during the intervention plan and implementation. Psychosocial interventions were the most commonly experienced interventions, while pharmacological interventions NOT recommended for core autistic symptoms were reported by fairly large proportions of participants. Family interventions were experienced slightly more commonly by carers than adults or professionals. Less than the 26% of autistic adult responders who had experienced challenging behaviors reported receiving an intervention to change them. These results provide insights for improving gaps in service provision of interventions among autistic adults.

Research providing an evidence-base for autistic adult services is sparse. The Autism Spectrum Disorders in the European Union (ASDEU) network implemented an on-line survey to determine gaps in autistic adult diagnostic evaluation and post-diagnostic support services. More than 55% in all groups experienced most of the recommended features for diagnostic evaluation for autistic adults. In contrast, < 2% of adults or carers, and < 21% of professionals experienced each of the recommended features for post-diagnostic support. In contrast to 61% of professionals, only about 30% of autistic adults and carers had knowledge of good local services models for autism diagnosis in adulthood. There are major differences between good practice guidelines for diagnostic and post-diagnostic care for autistic adults, and what is actually experienced by services users and professionals.

Quantified modal inferences interest logicians, linguists, and computer scientists, but no previous psychological study of them appears to be in the literature. Here is an example of one: All those artists are businessmen. Paulo is possibly one of the artists. What follows? People tend to conclude: Paulo is possibly a businessman (Experiment 1). It seems plausible, and it follows from an intuitive mental model in which Paulo is one of a set of artists who are businessmen. Further deliberation can yield a model of an alternative possibility in which Paulo is not one of the artists, which confirms that the conclusion is only a possibility. The snag is that standard modal logics, which deal with possibilities, cannot yield a particular conclusion to any premises: Infinitely many follow validly (from any premises) but they do not include the present conclusion. Yet, further experiments corroborated a new mental model theory's predictions for various inferences (Experiment 2), for the occurrence of factual conclusions drawn from premises about possibilities (Experiment 3) and for inferences from premises of modal syllogisms (Experiment 4). The theory is therefore plausible, but we explore the feasibility of a cognitive theory based on modifications to modal logic. [ABSTRACT FROM AUTHOR]

What is the relation between factual conditionals: "If A happened then B happened," and counterfactual conditionals: "If A had happened then B would have happened?" Some theorists propose quite different semantics for the two. In contrast, the theory of mental models and its computer implementation interrelates them. It postulates that both can have a priori truth values, and that the semantic bases of both are possibilities: states that are possible for factual conditionals, and that were once possible but that did not happen for counterfactual conditionals. Two experiments supported these relations. Experiment 1 showed that, like factual conditionals, certain counterfactuals are true a priori, and others are false a priori. Experiment 2 replicated this result and showed that participants selected appropriate paraphrases, referring, respectively, to real and to counterfactual possibilities, for the two sorts of conditional. These results are contrary to alternative accounts of conditionals.

Autism Spectrum Disorder (ASD) is an early onset neurodevelopmental disorder characterized by impaired social interaction and communication, and repetitive patterns of behavior. Family studies show that ASD is highly heritable, and hundreds of genes have previously been implicated in the disorder; however, the etiology is still not fully clear. Brain imaging and electroencephalography (EEG) are key techniques that study alterations in brain structure and function. Combined with genetic analysis, these techniques have the potential to help in the clarification of the neurobiological mechanisms contributing to ASD and help in defining novel therapeutic targets. To further understand what is known today regarding the impact of genetic variants in the brain alterations observed in individuals with ASD, a systematic review was carried out using Pubmed and EBSCO databases and following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. This review shows that specific genetic variants and altered patterns of gene expression in individuals with ASD may have an effect on brain circuits associated with face processing and social cognition, and contribute to excitation–inhibition imbalances and to anomalies in brain volumes. [ABSTRACT FROM AUTHOR]

We examine false belief and counterfactual reasoning in children with autism with a new change-of-intentions task. Children listened to stories, for example, Anne is picking up toys and John hears her say she wants to find her ball. John goes away and the reason for Anne's action changes--Anne's mother tells her to tidy her bedroom. We asked, "What will John believe is the reason that Anne is picking up toys?" which requires a false-belief inference, and "If Anne's mother hadn't asked Anne to tidy her room, what would have been the reason she was picking up toys?" which requires a counterfactual inference. We tested children aged 6, 8 and 10 years. Children with autism made fewer correct inferences than typically developing children at 8 years, but by 10 years there was no difference. Children with autism made fewer correct false-belief than counterfactual inferences, just like typically developing children.

Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by communication deficits and repetitive behavioral patterns. Hundreds of candidate genes have been implicated in ASD, including neurotransmission and synaptic (NS) genes; however, the genetic architecture of this disease is far from clear. In this study, we seek to clarify the biological processes affected by NS gene variants identified in individuals with ASD and the global networks that link those processes together. For a curated list of 1216 NS candidate genes, identified in multiple databases and the literature, we searched for ultra-rare (UR) loss-of-function (LoF) variants in the whole-exome sequencing dataset from the Autism Sequencing Consortium (N = 3938 cases). Filtering for population frequency was carried out using gnomAD (N = 60,146 controls). NS genes with UR LoF variants were used to construct a network of protein–protein interactions, and the network's biological communities were identified by applying the Leiden algorithm. We further explored the expression enrichment of network genes in specific brain regions. We identified 356 variants in 208 genes, with a preponderance of UR LoF variants in the PDE11A and SYTL3 genes. Expression enrichment analysis highlighted several subcortical structures, particularly the basal ganglia. The interaction network defined seven network communities, clustering synaptic and neurotransmitter pathways with several ubiquitous processes that occur in multiple organs and systems. This approach also uncovered biological pathways that are not usually associated with ASD, such as brain cytochromes P450 and brain mitochondrial metabolism. Overall, the community analysis suggests that ASD involves the disruption of synaptic and neurotransmitter pathways but also ubiquitous, but less frequently implicated, biological processes. [ABSTRACT FROM AUTHOR]

Introduction: Accurate prevalence estimates for Autism Spectrum Disorder (ASD) are fundamental to adequately program medical and educational resources for children. However, estimates vary globally and across Europe, and it is therefore wise to conduct epidemiological studies in defined geo-cultural contexts. Methods: We used a population screening approach to estimate the prevalence of ASD in the Centro region of Portugal, using a harmonized protocol as part of the Autism Spectrum Disorders in the European Union (ASDEU) project. Results: The overall prevalence was estimated at 0.5% (95% CI 0.3-0.7), higher in schools with Autism Units (3.3%, 95%CI 2.7-3.9) than in regular schools (0.3%, 95% CI 0.1-0.5) or schools with Multiple Disability Units (0.3%, 95% CI 0.04-0.6). Discussion: The results indicate that the diagnosis of ASD is followed by the most effective educational policies in Centro Region. The variability in prevalence estimates across the different regions from the ASDEU project, and globally, is discussed. [ABSTRACT FROM AUTHOR]

Personalized medicine is a concept that has been subject of increasing interest in medical research and practice in the last few years. However, significant challenges stand in the way of practical implementations, namely in regard to extracting clinically valuable insights from the vast amount of biomedical knowledge generated in the last few years. Here, we describe an approach that uses Knowledge Graph Embedding (KGE) methods on a biomedical Knowledge Graph (KG) as a path to reasoning over the wealth of information stored in publicly accessible databases. We built a Knowledge Graph using data from DisGeNET and GO, containing relationships between genes, diseases and other biological entities. The KG contains 93,657 nodes of 5 types and 1,705,585 relationships of 59 types. We applied KGE methods to this KG, obtaining an excellent performance in predicting gene‐disease associations (MR 0.13, MRR 0.96, HITS@1 0.93, HITS@3 0.99, and HITS@10 0.99). The optimal hyperparameter set was used to predict all possible novel gene‐disease associations. An in‐depth analysis of novel gene‐disease predictions for disease terms related to Autism Spectrum Disorder (ASD) shows that this approach produces predictions consistent with known candidate genes and biological pathways and yields relevant insights into the biology of this paradigmatic complex disorder. [ABSTRACT FROM AUTHOR]

Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder with heterogeneous clinical presentation, variable severity, and multiple comorbidities. A complex underlying genetic architecture matches the clinical heterogeneity, and evidence indicates that several co-occurring brain disorders share a genetic component with ASD. In this study, we established a genetic similarity disease network approach to explore the shared genetics between ASD and frequent comorbid brain diseases (and subtypes), namely Intellectual Disability, Attention-Deficit/Hyperactivity Disorder, and Epilepsy, as well as other rarely co-occurring neuropsychiatric conditions in the Schizophrenia and Bipolar Disease spectrum. Using sets of diseaseassociated genes curated by the DisGeNET database, disease genetic similarity was estimated from the Jaccard coefficient between disease pairs, and the Leiden detection algorithm was used to identify network disease communities and define shared biological pathways. We identified a heterogeneous brain disease community that is genetically more similar to ASD, and that includes Epilepsy, Bipolar Disorder, Attention-Deficit/Hyperactivity Disorder combined type, and some disorders in the Schizophrenia Spectrum. To identify loss-offunction rare de novo variants within shared genes underlying the disease communities, we analyzed a large ASD whole-genome sequencing dataset, showing that ASD shares genes with multiple brain disorders from other, less genetically similar, communities. Some genes (e.g., SHANK3, ASH1L, SCN2A, CHD2, and MECP2) were previously implicated in ASD and these disorders. This approach enabled further clarification of genetic sharing between ASD and brain disorders, with a finer granularity in disease classification and multi-level evidence from DisGeNET. Understanding genetic sharing across disorders has important implications for disease nosology, pathophysiology, and personalized treatment. [ABSTRACT FROM AUTHOR]

Heritability estimates support the contribution of genetics and the environment to the etiology of Autism Spectrum Disorder (ASD), but a role for gene-environment interactions is insufficiently explored. Genes involved in detoxification pathways and physiological permeability barriers (e.g., blood-brain barrier, placenta and respiratory airways), which regulate the effects of exposure to xenobiotics during early stages of neurodevelopment when the immature brain is extremely vulnerable, may be particularly relevant in this context. Our objective was to identify genes involved in the regulation of xenobiotic detoxification or the function of physiological barriers (the XenoReg genes) presenting predicted damaging variants in subjects with ASD, and to understand their interaction patterns with ubiquitous xenobiotics previously implicated in this disorder. We defined a panel of 519 XenoReg genes through literature review and database queries. Large ASD datasets were inspected for in silico predicted damaging Single Nucleotide Variants (SNVs) (N = 2,674 subjects) or Copy Number Variants (CNVs) (N = 3,570 subjects) in XenoReg genes. We queried the Comparative Toxicogenomics Database (CTD) to identify interaction pairs between XenoReg genes and xenobiotics. The interrogation of ASD datasets for variants in the XenoReg gene panel identified 77 genes with high evidence for a role in ASD, according to pre-specified prioritization criteria. These include 47 genes encoding detoxification enzymes and 30 genes encoding proteins involved in physiological barrier function, among which 15 are previous reported candidates for ASD. The CTD query revealed 397 gene-environment interaction pairs between these XenoReg genes and 80% (48/60) of the analyzed xenobiotics. The top interacting genes and xenobiotics were, respectively, CYP1A2 , ABCB1 , ABCG2 , GSTM1 , and CYP2D6 and benzo-(a)-pyrene, valproic acid, bisphenol A, particulate matter, methylmercury, and perfluorinated compounds. Individuals carrying predicted damaging variants in high evidence XenoReg genes are likely to have less efficient detoxification systems or impaired physiological barriers. They can therefore be particularly susceptible to early life exposure to ubiquitous xenobiotics, which elicit neuropathological mechanisms in the immature brain, such as epigenetic changes, oxidative stress, neuroinflammation, hypoxic damage, and endocrine disruption. As exposure to environmental factors may be mitigated for individuals with risk variants, this work provides new perspectives to personalized prevention and health management policies for ASD. [ABSTRACT FROM AUTHOR]

Autism Spectrum Disorder (ASD) is a heterogeneous neurodevelopmental condition with unclear etiology. Many genes have been associated with ASD risk, but the underlying mechanisms are still poorly understood. An important post-transcriptional regulatory mechanism that plays an essential role during neurodevelopment, the Nonsense-Mediated mRNA Decay (NMD) pathway, may contribute to ASD risk. In this study, we gathered a list of 46 NMD factors and regulators and investigated the role of genetic variants in these genes in ASD. By conducting a comprehensive search for Single Nucleotide Variants (SNVs) in NMD genes using Whole Exome Sequencing data from 1828 ASD patients, we identified 270 SNVs predicted to be damaging in 28.7% of the population. We also analyzed Copy Number Variants (CNVs) from two cohorts of ASD patients (N = 3570) and discovered 38 CNVs in 1% of cases. Importantly, we discovered 136 genetic variants (125 SNVs and 11 CNVs) in 258 ASD patients that were located within protein domains required for NMD. These gene variants are classified as damaging using in silico prediction tools, and therefore may interfere with proper NMD function in ASD. The discovery of NMD genes as candidates for ASD in large patient genomic datasets provides evidence supporting the involvement of the NMD pathway in ASD pathophysiology. [ABSTRACT FROM AUTHOR]

The theory of mental models postulates that meaning and knowledge can modulate the interpretation of conditionals. The theory's computer implementation implied that certain conditionals should be true or false without the need for evidence. Three experiments corroborated this prediction. In Experiment 1, nearly 500 participants evaluated 24 conditionals as true or false and they justified their judgments by completing sentences of the form, It is impossible that A and-appropriately. In Experiment 2, participants evaluated 16 conditionals and provided their own justifications, which tended to be explanations rather than logical justifications. In Experiment 3, the participants also evaluated as possible or impossible each of the four cases in the partitions of 16 conditionals: A and C, A and not-C, not-A and C, not-A and not-C. These evaluations corroborated the model theory. We consider the implications of these results for theories of reasoning based on logic, probabilistic logic and suppositions. [ABSTRACT FROM AUTHOR]

Our work aims to explore children's comprehension of the reasons that others have for actions, that is, we explored this effect of the knowledge about the reasons for actions, during counterfactual and false beliefs reasoning, and extending it to children's development. Previous work has shown that people tend to think differently about the actions when they have knowledge about the reasons behind those actions. An important step towards understanding the actions of others is reasoning about their intentions (Juhos, Quelhas, & Byrne, 2015; Walsh & Byrne, 2007). Children aged 6 and 8 years were tested with a new task: the change of intentions task, which included scenarios where an actor has an initial reason (desire or obligation) for an action, which is subsequently changed. Results showed that 6 year-olds make more mistakes in the false beliefs inferences than in the counterfactual inferences, once these children tend to focus more on the desires when they make false beliefs inferences. These results contribute to the open discussion about the relationship between counterfactual thinking and theory of mind, but it also brings some light on how children think the different reasons for the actions. [ABSTRACT FROM AUTHOR]

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When adults think in a counterfactual way, about what might have been different in a random sequence of events, such as in the case of a coin-tossing game (heads or tails), they are influenced by the order in which these events take place, showing an effect of temporal order and thus attribute emotions, such as guilt (in the case of loss), to the last player. In this context we will present two experiments. In a first experiment we studied if the temporal order effect occurred in children, as well as the emotional judgments of sadness and guilt caused by this effect. And, moreover, we also wanted to know if this can be eliminated, as occurs in adults when the game is interrupted and then restarts from the beginning. We found that the effect of temporal order happens from 6 years old, but its reduction/elimination occurs only to 10 years of age, as expected, given the increased representational capacity of these children comparing to the younger. At the level of emotional trials, they differed over the ages. In a second experiment, we studied if the temporal order effect would take place in the children when of a positive result, as well as the emotional judgements of happiness and pride. We found that from early the children also show an effect of temporal order for beneficial results. At the level of the emotional judgments, this seems congruent with the temporal order effect. These results will be discussed in terms of his implications for the understanding of the development of the mental representations. [ABSTRACT FROM AUTHOR]

Disjunctive inferences are difficult. According to the theory of mental models, it is because of the alternative possibilities to which disjunctions refer. Three experiments corroborated further predictions of the mental model theory. Participants judged that disjunctions, such as Either this year is a leap year or it is a common year are true. Given a disjunction such as Either A or B, they tended to evaluate the four cases in its 'partition': A and B, A and not‐B, not‐A and B, not‐A and not‐B, as 'possible' or 'impossible' in ways that bore out the difference between inclusive disjunctions ('or both') and exclusive disjunctions ('but not both'). Knowledge usually concerns what is true, and so when participants judge that a disjunction is false, or contingent, and evaluate the cases in its partition, they depend on inferences that yield predictable errors. They tended to judge that disjunctions, such as follows: Either the food is cold or else it is tepid, but not both, are true, though in fact they could be false. They tended to infer 'mirror‐image' evaluations that yield the same possibilities for false disjunctions as those for true disjunctions. The article considers the implications of these results for alternative theories based on classical logic or on the probability calculus. [ABSTRACT FROM AUTHOR]