1. Briganti G, Williams DR, Mulder J, Linkowski P. {{Bayesian Network Structure and Predictability of Autistic Traits}}. {Psychological reports}. 2020: 33294120978159.
The aim of this work is to explore the construct of autistic traits through the lens of network analysis with recently introduced Bayesian methods. A conditional dependence network structure was estimated from a data set composed of 649 university students that completed an autistic traits questionnaire. The connectedness of the network is also explored, as well as sex differences among female and male subjects in regard to network connectivity. The strongest connections in the network are found between items that measure similar autistic traits. Traits related to social skills are the most interconnected items in the network. Sex differences are found between female and male subjects. The Bayesian network analysis offers new insight on the connectivity of autistic traits as well as confirms several findings in the autism literature.
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2. Brunissen L, Rapoport E, Chawarska K, Adesman A. {{Sex Differences in Gender-Diverse Expressions and Identities among Youth with Autism Spectrum Disorder}}. {Autism Res}. 2020.
A growing body of evidence supports a potential link between autism spectrum disorder (ASD) and gender dysphoria, yet few studies have looked at sex differences in the co-occurrence of gender diversity and ASD. The aim of this study was to characterize sex differences in gender-diverse expressions and identities, as well as gender-related concerns, in youth with ASD. Parents of youth with ASD ages 6-21 (n = 163) completed an online questionnaire about their child’s gender expression and identity. Sex-typed behaviors during childhood were measured using the Gender Identity Questionnaire (GIQ). Semi-partial Kendall correlations and chi-square tests were used to compare gender non-conformity, gender-diverse identities, and gender-related concerns between sexes. Sex-based differences in mean GIQ score and individual GIQ items were evaluated using a linear regression and semi-partial Kendall correlations, respectively. All regressions and correlations controlled for child age. Parents of girls were more likely to report child appearances and mannerisms that were less concordant with their child’s birth sex. Based on parent-report, girls had lower mean GIQ scores, indicating greater cross-gendered/fewer same-gendered behaviors in childhood. Lastly, parents of girls with ASD were more likely to report that their daughters experienced anxiety due to gender-related concerns and discomfort during puberty than parents of boys. These findings suggest that girls with ASD seem more likely have gender-diverse preferences, mannerisms, and appearances that fall outside of traditional gender norms. Gender-related concerns appear to be a source of real distress in girls with ASD, highlighting the need for individualized support, especially during puberty. LAY SUMMARY: Despite evidence of a potential link between autism and gender diversity, few studies have explored differences in gender identity/expression between boys and girls with autism. Based on parent responses, we found that girls with autism are more likely than boys to have appearances and mannerisms, as well as behaviors during childhood, that fall outside of the traditional gender role. The unique profile of girls with autism and their elevated distress over gender-related concerns call for individualized support during adolescence.
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3. Deb SS, Retzer A, Roy M, Acharya R, Limbu B, Roy A. {{The effectiveness of parent training for children with autism spectrum disorder: a systematic review and meta-analyses}}. {BMC Psychiatry}. 2020; 20(1): 583.
BACKGROUND: Various parent training interventions have been shown to have some effect on the symptoms of children with autism. We carried out a systematic review and meta-analyses to assess effectiveness of parental training for children with autism on their symptoms and parental stress. METHODS: Four electronic databases, CINAHL, EMBASE, MEDLINE and PsycINFO were searched until March 2020 for relevant literature. Two reviewers independently screened bibliographies using an eligibility checklist and extracted data using a structured proforma. We have also carried out meta-analyses when data were available for pooling. RESULTS: Seventeen papers from 15 studies were included for data analysis. Fifteen papers showed a positive treatment effect when compared with the control group, although not always significant. Meta-analysis based on pooled data from only two studies in each respective intervention, showed small to moderate treatment effects for three interventions, DIR/Floortime, Pivotal Response and Parent focused training respectively. CONCLUSIONS: As in previous systematic reviews there was a mild to moderate treatment effects of three specific types of interventions respectively. However, it was difficult to draw any definitive conclusion about the effectiveness and generalisability of any intervention because of the wide variation in the interventions, control groups, outcome measures, small sample size, small number of studies in meta-analysis, overlap between the intervention and control procedures used in the included studies. There is an urgent need for experts in various international centres to jointly standardise a parent training intervention for children with autism and carry out a large scale RCT to assess its clinical and economic effectiveness. Research Registry Unique Identifying Number: reviewregistry915.
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4. Ding Q, Zhang F, Feng Y, Wang H. {{Carbamazepine Restores Neuronal Signaling, Protein Synthesis, and Cognitive Function in a Mouse Model of Fragile X Syndrome}}. {International journal of molecular sciences}. 2020; 21(23).
Fragile X syndrome (FXS) is a leading genetic disorder of intellectual disability caused by the loss of the functional fragile X mental retardation protein (FMRP). To date, there is no efficacious mechanism-based medication for FXS. With regard to potential disease mechanisms in FXS, it is widely accepted that the lack of FMRP causes elevated protein synthesis and deregulation of neuronal signaling. Abnormal enhancement of the ERK½ (extracellular signal-regulated kinase ½) and PI3K-Akt (Phosphoinositide 3 kinase-protein kinase B) signaling pathways has been identified in both FXS patients and FXS mouse models. In this study, we show that carbamazepine, which is an FDA-approved drug and has been mainly used to treat seizure and neuropathic pain, corrects cognitive deficits including passive avoidance and object location memory in FXS mice. Carbamazepine also rescues hyper locomotion and social deficits. At the cellular level, carbamazepine dampens the elevated level of ERK½ and Akt signaling as well as protein synthesis in FXS mouse neurons. Together, these results advocate repurposing carbamazepine for FXS treatment.
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5. Hu VW, Bi C. {{Phenotypic Subtyping and Re-analyses of Existing Transcriptomic Data from Autistic Probands in Simplex Families Reveal Differentially Expressed and ASD Trait-Associated Genes}}. {Frontiers in neurology}. 2020; 11: 578972.
Autism spectrum disorder (ASD) describes a collection of neurodevelopmental disorders characterized by core symptoms that include social communication deficits and repetitive, stereotyped behaviors often coupled with restricted interests. Primary challenges to understanding and treating ASD are the genetic and phenotypic heterogeneity of cases that complicates all omics analyses as well as a lack of information on relationships among genes, pathways, and autistic traits. In this study, we re-analyze existing transcriptomic data from simplex families by subtyping individuals with ASD according to multivariate cluster analyses of clinical ADI-R scores that encompass a broad range of behavioral symptoms. We also correlate multiple ASD traits, such as deficits in verbal and non-verbal communication, play and social skills, ritualistic behaviors, and savant skills, with expression profiles using Weighted Gene Correlation Network Analyses (WGCNA). Our results show that subtyping greatly enhances the ability to identify differentially expressed genes involved in specific canonical pathways and biological functions associated with ASD within each phenotypic subgroup. Moreover, using WGCNA, we identify gene modules that correlate significantly with specific ASD traits. Network prediction analyses of the genes in these modules reveal canonical pathways as well as neurological functions and disorders relevant to the pathobiology of ASD. Finally, we compare the WGCNA-derived data on autistic traits in simplex families with analogous data from multiplex families using transcriptomic data from our previous studies. The comparison reveals overlapping trait-associated pathways as well as upstream regulators of the module-associated genes that may serve as useful targets for a precision medicine approach to ASD.
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6. Itskovich E, Zyga O, Libove RA, Phillips JM, Garner JP, Parker KJ. {{Complex Interplay Between Cognitive Ability and Social Motivation in Predicting Social Skill: A Unique Role for Social Motivation in Children With Autism}}. {Autism Res}. 2020.
Impairment in social interaction is a core feature of autism spectrum disorder (ASD), but the factors which contribute to this social skill deficiency are poorly understood. Previous research has shown that cognitive ability can impact social skill development in ASD. Yet, children with ASD whose cognitive abilities are in the normal range nevertheless demonstrate deficits in social skill. More recently, the social motivation theory of ASD has emerged as a framework by which to understand how failure to seek social experiences may lead to social skill deficits. This study was designed to better understand the relationships between cognitive ability, social motivation, and social skill in a well-characterized cohort of children with ASD (n = 79), their unaffected siblings (n = 50), and unrelated neurotypical controls (n = 60). The following instruments were used: The Stanford-Binet intelligence quotient (IQ), the Social Responsiveness Scale’s Social Motivation Subscale, and the Vineland Adaptive Behavior Scales’ Socialization Standard Score. We found that lower cognitive ability contributed to diminished social skill, but did so universally in all children. In contrast, social motivation strongly predicted social skill only in children with ASD, such that those with the lowest social motivation exhibited the greatest social skill impairment. Notably, this relationship was observed across a large range of intellectual ability but was most pronounced in those with IQs ≥ 80. These findings establish a unique link between social motivation and social skill in ASD and support the hypothesis that low social motivation may impair social skill acquisition in this disorder, particularly in children without intellectual disability. LAY SUMMARY: The relationships between cognitive ability, social motivation, and social skill are poorly understood. Here we report that cognitive ability predicts social skill in all children, whereas social motivation predicts social skill only in children with autism. These results establish a unique link between social motivation and social skill in autism, and suggest that low social motivation may impair social skill acquisition in this disorder, particularly in those without intellectual disability.
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7. Kadam A, Patni B, Pandit A, Patole S. {{Stability of the Initial Diagnosis of Autism Spectrum Disorder by DSM-5 in Children: A Short-Term Follow-Up Study}}. {J Trop Pediatr}. 2020.
BACKGROUND: Assessing the stability of the diagnosis of autism spectrum disorder (ASD) in children is important. Only few such studies have been reported from India. We aimed to assess the stability after 18-30 months, of an initial diagnosis of ASD based on DSM-5, in children ≤ 5 years of age using Autism Diagnostic Observation Schedule, 2nd Edition (ADOS-2). METHODS: A total of 125 children with ASD diagnosed by DSM-5 at ≤ 5 years of age were followed up at 18-30 months using ADOS-2, which is considered as the ‘gold-standard’ observational assessment for diagnosing ASD and hence suitable for confirming the stability of the diagnosis. RESULTS: Similar to previous studies from developed countries, the stability of ASD diagnosis was 80%. There was no significant correlation between gender, socioeconomic status and the stability of the final diagnosis. All the children continued to have some developmental difficulties mainly in the domain of language, attention or social communication. CONCLUSION: Our results suggest that DSM-5 can be used for the initial diagnosis ASD to initiate early intervention for children with this condition in resource-limited set-ups. Adequately powered prospective studies with long-term follow-up are needed to confirm our findings.
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8. Kato H, Kushima I, Mori D, Yoshimi A, Aleksic B, Nawa Y, Toyama M, Furuta S, Yu Y, Ishizuka K, Kimura H, Arioka Y, Tsujimura K, Morikawa M, Okada T, Inada T, Nakatochi M, Shinjo K, Kondo Y, Kaibuchi K, Funabiki Y, Kimura R, Suzuki T, Yamakawa K, Ikeda M, Iwata N, Takahashi T, Suzuki M, Okahisa Y, Takaki M, Egawa J, Someya T, Ozaki N. {{Rare genetic variants in the gene encoding histone lysine demethylase 4C (KDM4C) and their contributions to susceptibility to schizophrenia and autism spectrum disorder}}. {Translational psychiatry}. 2020; 10(1): 421.
Dysregulation of epigenetic processes involving histone methylation induces neurodevelopmental impairments and has been implicated in schizophrenia (SCZ) and autism spectrum disorder (ASD). Variants in the gene encoding lysine demethylase 4C (KDM4C) have been suggested to confer a risk for such disorders. However, rare genetic variants in KDM4C have not been fully evaluated, and the functional impact of the variants has not been studied using patient-derived cells. In this study, we conducted copy number variant (CNV) analysis in a Japanese sample set (2605 SCZ and 1141 ASD cases, and 2310 controls). We found evidence for significant associations between CNVs in KDM4C and SCZ (p = 0.003) and ASD (p = 0.04). We also observed a significant association between deletions in KDM4C and SCZ (corrected p = 0.04). Next, to explore the contribution of single nucleotide variants in KDM4C, we sequenced the coding exons in a second sample set (370 SCZ and 192 ASD cases) and detected 18 rare missense variants, including p.D160N within the JmjC domain of KDM4C. We, then, performed association analysis for p.D160N in a third sample set (1751 SCZ and 377 ASD cases, and 2276 controls), but did not find a statistical association with these disorders. Immunoblotting analysis using lymphoblastoid cell lines from a case with KDM4C deletion revealed reduced KDM4C protein expression and altered histone methylation patterns. In conclusion, this study strengthens the evidence for associations between KDM4C CNVs and these two disorders and for their potential functional effect on histone methylation patterns.
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9. Macari SL, Vernetti A, Chawarska K. {{Attend Less, Fear More: Elevated Distress to Social Threat in Toddlers With Autism Spectrum Disorder}}. {Autism Res}. 2020.
Differential emotional reactivity to social and nonsocial stimuli has been hypothesized but rarely examined empirically in ASD despite its potential importance for development of social motivation, cognition, and comorbid psychopathology. This study examined emotional reactivity, regulation, and attention to social and nonsocial threat in toddlers with ASD (n = 42, M(age) : 22 months) and typically developing (TD) toddlers (n = 22, M(age) : 23 months), and their mutual associations with autism symptom severity. Participants were exposed to social (stranger), nonsocial (mechanical objects), and ambiguous (masks) threats, and their intensity of distress (iDistress), attention to threat (Attention), and presence of emotion regulation (ER) strategies were measured. Autism symptom severity was quantified using the Autism Diagnostic Observation Schedule-2. In response to social threat, toddlers with ASD exhibited elevated iDistress (P < 0.038) but lower Attention (P < 0.002) and a wider variety of ER strategies (P < 0.040) compared to TD controls, though their ER strategies were less likely to be social. However, nonsocial and ambiguous threat elicited lower iDistress in ASD than in TD toddlers (P = 0.012 and P = 0.034, respectively), but comparable Attention and ER strategy use. Autism severity was not associated with iDistress. The study demonstrates elevated emotional salience but diminished attentional salience of social threat in ASD. A failure to attend adequately to social threats may restrict opportunities to appraise their threat value and engender often observed in ASD negative emotional responses to novel social situations. Early atypical emotional reactivity may independently contribute to the shaping of complex autism phenotypes and may be linked with later emerging affective and behavioral symptoms. LAY SUMMARY: Compared to typically developing toddlers, toddlers with ASD show diminished attention yet enhanced distress in response to social threat. Poor attention to potential social threat may limit opportunities to assess its threat value and thus contribute to often observed negative emotional responses to novel social situations. Identifying the precursors of atypical emotional reactivity in infancy and its links with later psychopathology will inform about novel treatment targets and mechanisms of change in the early stages of ASD. Lien vers le texte intégral (Open Access ou abonnement)
10. Manor-Binyamini I, Schreiber-Divon M. {{Bedouin mothers of young children with developmental disability – Stigma, quality of life and collaboration with professionals}}. {Res Dev Disabil}. 2020; 108: 103819.
BACKGROUND: Although children across the world experience Developmental Disabilities, most research on DD has been conducted using Western cultural perspectives. Similarly, though much has been written on the subject of collaboration between parents and professionals around the world, this subject has hardly been studied among Bedouin mothers in the Middle East, leaving significant gaps in the literature. This study intends to fill some of these gaps by exploring and gaining an understanding of the experiences of Bedouin mothers raising young children with DD. AIMS: The aims of the study were to examine: A) Do stigma and the QoL of mothers of young children with DD affect the collaboration between them and professionals? B) Do relationships exist between stigma, QoL, and collaboration among the mothers? METHODS: Ninety Bedouin mothers of children with DD completed: a socio-demographic questionnaire, a questionnaire of collaboration between parents and professionals, and a QoL questionnaire. RESULTS: A significant negative relationship was found between stigma and the collaboration of the mothers with the professional, and a significant positive relationship between QoL and collaboration. The model for predicting collaboration using stigma and QoL was significant. CONCLUSIONS AND IMPLICATIONS: This study emphasizes the need for collaboration between this mothers and professionals, and to develop community programs.
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11. Nanjapp MS, Voyiaziakis E, Pradhan B, Thippaiah SM. {{Use of Selective Serotonin and Norepinephrine Reuptake Inhibitors (SNRIs) in the treatment of Autism Spectrum Disorder (ASD), Comorbid psychiatric disorders and ASD-associated symptoms: A Clinical Review}}. {CNS spectrums}. 2020: 1-23.
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12. Narzisi A. {{The Challenging Heterogeneity of Autism: Editorial for Brain Sciences Special Issue « Advances in Autism Research »}}. {Brain Sci}. 2020; 10(12).
My personal experience as Guest Editor of the Special Issue (SI) entitled « Advances in Autism Research » began with a nice correspondence with Andrew Meltzoff, from the University of Washington, Seattle (WA, USA), which, in hindsight, I consider as a good omen for the success of this Special Issue: « Dear Antonio… […].
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13. Noda H, Tokunaga A, Imamura A, Tanaka G, Iwanaga R. {{Visual attention affects late somatosensory processing in autism spectrum disorder}}. {Int J Neurosci}. 2020: 1-8.
PURPOSE: Somatosensory processing problems are often reported in individuals with autism spectrum disorder (ASD), along with an abnormal multimodal integration of visual, tactile or proprioceptive information. However, the effects of visual stimulation and attention on somatosensory processing in ASD remain unknown. This study explores the effects of visual attention on somatosensory processing in ASD. MATERIALS AND METHODS: The neural activity in somatosensory areas and associated regions was investigated by measuring somatosensory evoked potentials (SEPs) elicited by median nerve stimulation, in three different conditions (closed eyes, open eyes and focused attention to a visual task). Nine individuals with ASD and nine typically developing (TD) individuals participated in the study. RESULTS: There were significant interactions between groups (ASD, TD) and conditions (closed eye, open eye, visual task requiring focused attention) for P100-N140 SEP amplitudes evaluated by 2-way analysis of variance. Post hoc analyses revealed that the P100-N140 amplitude with closed eyes recorded larger SEPs in the ASD group than in the TD group at C3′ of the international 10-20 system. In the ASD group, the P100-N140 amplitude elicited smaller responses during visual tasks than with closed or open eyes. There were no significant differences in N20-P25 SEP components. CONCLUSIONS: These findings suggest that visual attention affects the later stages of somatosensory processing in individuals with ASD.
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14. Rahman MM, Usman OL, Muniyandi RC, Sahran S, Mohamed S, Razak RA. {{A Review of Machine Learning Methods of Feature Selection and Classification for Autism Spectrum Disorder}}. {Brain Sci}. 2020; 10(12).
Autism Spectrum Disorder (ASD), according to DSM-5 in the American Psychiatric Association, is a neurodevelopmental disorder that includes deficits of social communication and social interaction with the presence of restricted and repetitive behaviors. Children with ASD have difficulties in joint attention and social reciprocity, using non-verbal and verbal behavior for communication. Due to these deficits, children with autism are often socially isolated. Researchers have emphasized the importance of early identification and early intervention to improve the level of functioning in language, communication, and well-being of children with autism. However, due to limited local assessment tools to diagnose these children, limited speech-language therapy services in rural areas, etc., these children do not get the rehabilitation they need until they get into compulsory schooling at the age of seven years old. Hence, efficient approaches towards early identification and intervention through speedy diagnostic procedures for ASD are required. In recent years, advanced technologies like machine learning have been used to analyze and investigate ASD to improve diagnostic accuracy, time, and quality without complexity. These machine learning methods include artificial neural networks, support vector machines, a priori algorithms, and decision trees, most of which have been applied to datasets connected with autism to construct predictive models. Meanwhile, the selection of features remains an essential task before developing a predictive model for ASD classification. This review mainly investigates and analyzes up-to-date studies on machine learning methods for feature selection and classification of ASD. We recommend methods to enhance machine learning’s speedy execution for processing complex data for conceptualization and implementation in ASD diagnostic research. This study can significantly benefit future research in autism using a machine learning approach for feature selection, classification, and processing imbalanced data.
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15. Samaey C, Van der Donck S, van Winkel R, Boets B. {{Facial Expression Processing Across the Autism-Psychosis Spectra: A Review of Neural Findings and Associations With Adverse Childhood Events}}. {Frontiers in psychiatry}. 2020; 11: 592937.
Autism spectrum disorder (ASD) and primary psychosis are classified as distinct neurodevelopmental disorders, yet they display overlapping epidemiological, environmental, and genetic components as well as endophenotypic similarities. For instance, both disorders are characterized by impairments in facial expression processing, a crucial skill for effective social communication, and both disorders display an increased prevalence of adverse childhood events (ACE). This narrative review provides a brief summary of findings from neuroimaging studies investigating facial expression processing in ASD and primary psychosis with a focus on the commonalities and differences between these disorders. Individuals with ASD and primary psychosis activate the same brain regions as healthy controls during facial expression processing, albeit to a different extent. Overall, both groups display altered activation in the fusiform gyrus and amygdala as well as altered connectivity among the broader face processing network, probably indicating reduced facial expression processing abilities. Furthermore, delayed or reduced N170 responses have been reported in ASD and primary psychosis, but the significance of these findings is questioned, and alternative frequency-tagging electroencephalography (EEG) measures are currently explored to capture facial expression processing impairments more selectively. Face perception is an innate process, but it is also guided by visual learning and social experiences. Extreme environmental factors, such as adverse childhood events, can disrupt normative development and alter facial expression processing. ACE are hypothesized to induce altered neural facial expression processing, in particular a hyperactive amygdala response toward negative expressions. Future studies should account for the comorbidity among ASD, primary psychosis, and ACE when assessing facial expression processing in these clinical groups, as it may explain some of the inconsistencies and confound reported in the field.
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16. Sapey-Triomphe LA, Timmermans L, Wagemans J. {{Priors Bias Perceptual Decisions in Autism, But Are Less Flexibly Adjusted to the Context}}. {Autism Res}. 2020.
According to the predictive coding framework, percepts emerge from combinations of sensory input and prior knowledge, whose relative contributions depend on their reliability. Recent predictive coding theories suggest that Autism Spectrum Disorder (ASD) could be characterized by an atypical weighting of priors. Here, we assessed whether individuals with ASD can flexibly adjust the weight (precision) of the prior to the context. Thirty-one neurotypical adults (NT) and 26 adults with ASD participated in a visual discrimination task designed to elicit a time-order effect (TOE). The TOE reflects the integration of priors with sensory estimates. We used two experimental contexts: a narrow stimulus range (Narrow condition) and a broader range (Broad condition) in order to induce a prior with a higher and lower precision, respectively. Both groups learned a prior that biased their perception, as shown with the TOE. As expected, the NT group had a larger TOE in the Narrow condition than in the Broad condition, revealing a contextual adjustment of the prior precision. In contrast, ASD participants were more inflexible: the extent of the TOE was not modulated by the context. In addition, the accuracy increased when the stimulus range decreased in both group, which may be interpreted as a contextual adjustment of the sensory precision. To conclude, adults with and without ASD implicitly learned a prior mean, but ASD participants failed to flexibly adjust the prior precision to the context. This increased inflexibility in ASD could account for many symptoms, such as their intolerance of uncertainty. LAY SUMMARY: Based on our experience, we have expectations about our environment. Theories suggest that the symptoms encountered in autism could be due to atypical expectations, leading to an impression of an unpredictable world. Using a visual discrimination task, we showed that adults with and without autism were biased by their expectations. Yet, the extent to which expectations biased perception did not depend on the context in autism. This higher inflexibility found in autism may explain symptoms such as resistance to change.
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17. Saposnik FE, Huber JF. {{Trends in Web Searches About the Causes and Treatments of Autism Over the Past 15 Years: Exploratory Infodemiology Study}}. {JMIR pediatrics and parenting}. 2020; 3(2): e20913.
BACKGROUND: Ninety percent of adults in the United States use the internet, and the majority of internet users report looking on the web for health information using search engines. The rising prevalence of autism spectrum disorder (ASD), uncertainty surrounding its etiology, and variety of intervention approaches contribute to questions about its causes and treatments. It is not known which terms people search most frequently about ASD and whether web search queries have changed over time. Infodemiology is an area of health informatics research using big data analytics to understand web search behavior. OBJECTIVE: The objectives were to (1) use infodemiological data to analyze trends in web-based searches about the causes and treatments of ASD over time and (2) inform clinicians and ASD organizations about web queries regarding ASD. METHODS: Google Trends was used to analyze web searches about the causes and treatments of ASD in the United States from 2004 to 2019. The search terms analyzed for queries about causes of ASD included vaccines, genetics, environmental factors, and microbiome and those for therapies included applied behavior analysis (ABA), gluten-free diet, chelation therapy, marijuana, probiotics, and stem cell therapy. RESULTS: Google Trends results are normalized on a scale ranging from 0 to 100 to represent the frequency and relative interest of search topics. For searches about ASD causes, vaccines had the greatest frequency compared to other terms, with an initial search peak observed in 2008 (scaled score of 81), reaching the highest frequency in 2015 (scaled score of 100), and a current upward trend. In comparison, searches about genetics, environmental factors, and microbiome occurred less frequently. For web searches about ASD therapies, ABA consistently had a high frequency of search interest since 2004, reaching a maximum scaled score of 100 in 2019. The analyses of chelation therapy and gluten-free diet showed trending interest in 2005 (scaled score of 68) and 2007 (scaled score of 100), respectively, followed by a steady decline since (scaled scores of only 10 and 16, respectively, in 2019). Searches related to ASD and marijuana showed a rise in 2009 (scaled score of 35), and they continue to trend upward. Searches about probiotics and stem cell therapy have been relatively low (scaled scores of 22 and 18, respectively), but are gradually gaining interest. Web search volumes for stem cell therapy in 2019 surpassed both gluten-free diet and chelation therapy as web-searched interventions for ASD. CONCLUSIONS: Google Trends is an effective infodemiology tool to analyze large-scale web search trends about ASD. The results showed informative variation in search trends over 15 years. These data are useful to inform clinicians and organizations about web queries on topics related to ASD, identify knowledge gaps, and target web-based education and knowledge translation strategies.
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18. Sener EF, Onal MG, Dal F, Nalbantoglu U, Ozkul Y, Canatan H, Oztop DB. {{Novel Alterations of CC2D1A as a Candidate Gene in a Turkish Sample of Patients with Autism Spectrum Disorder}}. {Int J Neurosci}. 2020: 1-9.
Background: Autism spectrum disorder (ASD) is a neurodevelopmental disorder with large genetic background, but identification of pathogenic variants has proceeded slowly because hundreds of loci are involved in this complex disorder. CC2D1A gene firstly associated with the intellectual disability (ID) in a family with a large deletion. We aimed to contribute to the literature by sequencing this gene and by this way we report novel CC2D1A variations in patients with ASD. Methods: Forty families who have a child with a diagnosis of ASD were enrolled to the study. DNA samples were obtained from each family member. Bidirectional CC2D1A gene sequencing was performed with CEQ Cycle Sequencing Kit and the products were analyzed on the Beckman CEQ 8000. All of the genetic analysis was conducted in Erciyes University Genome and Stem Cell Center (GENKOK). Results: According to the sequencing results we defined new alterations in this gene with two SNPs in exon 15 and 19 (rs747172992 and rs1364074600) in our patients. We were found a pathogenic variant in one patient. This variant was located in the acceptor region. Six of the variants were missense mutations. Additionally, six different benign variants were detected in 30 patients however; they were not associated with ASD. Two patients carried multiple rare variants. Conclusion: In vitro and in vivo functional analysis with this gene will help to understand its contribution to ASD pathogenesis. Future studies may help to elucidate the underlying biological mechanisms of these variants leading to the autism phenotype.
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19. Sotoodeh MS, Taheri-Torbati H, Hadjikhani N, Lassalle A. {{Preserved action recognition in children with autism spectrum disorders: Evidence from an EEG and eye-tracking study}}. {Psychophysiology}. 2020: e13740.
Individuals with Autism Spectrum Disorder (ASD) have difficulties recognizing and understanding others’ actions. The goal of the present study was to determine whether children with and without ASD show differences in the way they process stimuli depicting Biological Motion (BM). Thirty-two children aged 7-16 (16 ASD and 16 typically developing (TD) controls) participated in two experiments. In the first experiment, electroencephalography (EEG) was used to record low (8-10 Hz) and high (10-13 Hz) mu and beta (15-25 Hz) bands during the observation three different Point Light Displays (PLD) of action. In the second experiment, participants answered to action-recognition tests and their accuracy and response time were recorded, together with their eye-movements. There were no group differences in EEG data (first experiment), indicating that children with and without ASD do not differ in their mu suppression (8-13 Hz) and beta activity (15-25 Hz). However, behavioral data from second experiment revealed that children with ASD were less accurate and slower than TD children in their responses to an action recognition task. In addition, eye-tracking data indicated that children with ASD paid less attention to the body compared to the background when watching PLD stimuli. Our results indicate that the more the participants focused on the PLDs, the more they displayed mu suppressions. These results could challenge the results of previous studies that had not controlled for visual attention and found a possible deficit in MNS functions of individuals with ASD. We discuss possible mechanisms and interpretations.
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20. Vandewouw MM, Choi EJ, Hammill C, Lerch JP, Anagnostou E, Taylor MJ. {{Changing Faces: Dynamic Emotional Face Processing in Autism Spectrum Disorder Across Childhood and Adulthood}}. {Biol Psychiatry Cogn Neurosci Neuroimaging}. 2020.
BACKGROUND: Autism spectrum disorder (ASD) is classically associated with poor emotional face processing. Few studies, however, have used more ecological dynamic stimuli. We contrasted functional magnetic resonance imaging measures of dynamic emotional face processing in ASD and typically developing (TD) cohorts across a wide age range to determine if the processing and age-related trajectories differed between participants with and without ASD. METHODS: Functional magnetic resonance imaging data collected from 200 participants (5-42 years old; 107 in ASD cohort, 93 in TD cohort) during the presentation of dynamic emotional faces (neutral-to-happy, neutral-to-angry) and dynamic flowers (closed-to-open) were analyzed. Group differences and group-by-age interactions in the faces versus flowers and between emotion contrasts were investigated. RESULTS: Differences in activation between dynamic faces and flowers in occipital regions, including the fusiform gyri, were reduced in the ASD group. Contrasting the two emotions, ASD compared with TD participants showed increased engagement of the precentral, postcentral, and superior temporal gyri to happy faces and increased activation to angry faces occipitally. Emotion processing regions, such as insula, temporal pole, and frontal regions, showed increased recruitment with age to happy faces compared with both angry faces and flowers in the TD group, but decreased recruitment with age in the ASD group. CONCLUSIONS: Using dynamic stimuli, we demonstrated that participants with ASD processed faces similarly to nonface stimuli, and age-related atypicalities were more pronounced to happy faces in participants with ASD. We demonstrated emotion-specific atypicalities in a large group of participants with ASD that underscore persistent difficulties from childhood into mid-adulthood.
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21. Yuk V, Dunkley BT, Anagnostou E, Taylor MJ. {{Alpha connectivity and inhibitory control in adults with autism spectrum disorder}}. {Mol Autism}. 2020; 11(1): 95.
BACKGROUND: Individuals with autism spectrum disorder (ASD) often report difficulties with inhibition in everyday life. During inhibition tasks, adults with ASD show reduced activation of and connectivity between brain areas implicated in inhibition, suggesting impairments in inhibitory control at the neural level. Our study further investigated these differences by using magnetoencephalography (MEG) to examine the frequency band(s) in which functional connectivity underlying response inhibition occurs, as brain functions are frequency specific, and whether connectivity in certain frequency bands differs between adults with and without ASD. METHODS: We analysed MEG data from 40 adults with ASD (27 males; 26.94 ± 6.08 years old) and 39 control adults (27 males; 27.29 ± 5.94 years old) who performed a Go/No-go task. The task involved two blocks with different proportions of No-go trials: Inhibition (25% No-go) and Vigilance (75% No-go). We compared whole-brain connectivity in the two groups during correct No-go trials in the Inhibition vs. Vigilance blocks between 0 and 400 ms. RESULTS: Despite comparable performance on the Go/No-go task, adults with ASD showed reduced connectivity compared to controls in the alpha band (8-14 Hz) in a network with a main hub in the right inferior frontal gyrus. Decreased connectivity in this network predicted more self-reported difficulties on a measure of inhibition in everyday life. LIMITATIONS: Measures of everyday inhibitory control were not available for all participants, so this relationship between reduced network connectivity and inhibitory control abilities may not be necessarily representative of all adults with ASD or the larger ASD population. Further research with independent samples of adults with ASD, including those with a wider range of cognitive abilities, would be valuable. CONCLUSIONS: Our findings demonstrate reduced functional brain connectivity during response inhibition in adults with ASD. As alpha-band synchrony has been linked to top-down control mechanisms, we propose that the lack of alpha synchrony observed in our ASD group may reflect difficulties in suppressing task-irrelevant information, interfering with inhibition in real-life situations.
