1. Bader O, Fuchs T. Gestalt Perception and the Experience of the Social Space in Autism: A Case Study. Psychopathology;2022 (May 24):1-8.

Phenomenological approaches suggest that the bodily presence of others has a profound influence on the experience of social spaces. This intimate relationship is particularly evident in mental disorders. Investigations into the nature of intersubjectivity in various pathologies indicate that modifications to the capacity for social perception play a key role in determining the manners in which the social space is experienced and felt. This paper aims to examine the interviewing relation of social perception and the experience of space and its consequences in autism spectrum disorder (ASD). This is done through a phenomenologically informed analysis of the functioning of social perception in ASD. Our account proposes that the atypical socio-perceptual patterns exhibited by people with autism significantly reduce the capacity to grasp the context of the situation, which facilitates and intensifies negative feelings that are intertwined with the experience of social spaces. This novel understanding draws on the idea that ASD involves a fundamental difficulty to establish a gestalt perception of social scenes. The evidence we discuss suggests that this anomaly in the operation of social perception also modulates the experience of the social space. Failing to perceive the wholeness of the situation means that people with autism often experience the social space as unfamiliar, confusing, uncertain, and unsafe, rather than feeling familiar and understood in the embodied presence of others. As a result, autistic subjects may experience difficulty evaluating the outcomes of hazardous circumstances, which poses a risk to their well-being, particularly in borderline situations. This suggestion is elaborated through the tragic occurrences that led to the killing of Eyad al-Hallaq, a 32-year-old Palestinian with autism.

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2. Ben-Ari Y, Caly H, Rabiei H, Lemonnier É. [Early prognostic of ASD: A challenge]. Med Sci (Paris);2022 (May);38(5):431-437.

Autism Spectrum Disorders (ASD) are born in the womb generated by intrauterine genetic or environmental insult. ASD diagnostic is made at the age of 3-5 years in Europe and in the US. Relying on this, we have tested the hypothesis of identifying already at birth babies who might be diagnosed later with ASD, thereby facilitating an early use of psychoeducative techniques to attenuate the severity of the symptoms. Here, we discuss the various approaches that have been used to enable an early diagnosis. We have ourselves used an approach based on a « without a priori » machine learning analysis of all maternity biological and ultrasound data available in French maternities (around 116) in utero and after birth. This program made it possible to identify at birth almost all (96%) of babies who will be later neurotypical and around half of those who will be diagnosed with ASD. Some of the parameters allowing this identification were largely unexpected with no known links with ASD. This approach will enable an early identification of babies at risk, but also might be used to diagnose ASD later on, and perhaps could help to get a better understanding of the heterogeneity of ASD.

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3. Brian J, Solish A, Dowds E, Roth I, Bernardi K, Perry K, Daoud S, Jilderda S, MacWilliam S, Smith IM, Zwaigenbaum L, Bryson S. « Going Mobile »-increasing the reach of parent-mediated intervention for toddlers with ASD via group-based and virtual delivery. J Autism Dev Disord;2022 (May 24):1-14.

Evidence supports early intervention for toddlers with ASD, but barriers to access remain, including system costs, workforce constraints, and a range of family socio-demographic factors. An urgent need exists for innovative models that maximize resource efficiency and promote widespread timely access. We examined uptake and outcomes from 82 families participating in a parent-mediated intervention comprising group-based learning and individual coaching, delivered either in-person (n = 45) or virtually (n = 37). Parents from diverse linguistic, ethnic, and educational backgrounds gained intervention skills and toddlers evidenced significant social-communication gains. Few differences emerged across socio-demographic factors or delivery conditions. Findings highlight the feasibility, acceptability, and promise of group-based learning when combined with individual coaching, with added potential to increase program reach via virtual delivery.

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4. Cervantes PE, Brown DS, Horwitz SM. Suicidal ideation and intentional self-inflicted injury in autism spectrum disorder and intellectual disability: An examination of trends in youth emergency department visits in the United States from 2006 to 2014. Autism;2022 (May 24):13623613221091316.

Youth suicide is a major problem in the United States and globally, but little is known about suicide risk in autistic youth and youth with intellectual disability specifically. Using data from the National Emergency Department Sample, which is the largest database of emergency department visits in the United States, we found that emergency department visits with a suicidal ideation or intentional self-inflicted injury diagnosis were more common in autistic youth and youth with intellectual disability than in youth without these diagnoses (i.e. the comparison group). This was true when examining both suicidal ideation diagnoses and intentional self-inflicted injury diagnoses at emergency department visits. In addition, the number of emergency department visits with a suicidal ideation or intentional self-inflicted injury diagnosis increased more from 2006 to 2014 in autistic youth and youth with intellectual disability compared with the comparison group. We also found both similarities and differences when examining factors, such as age, sex, and co-occurring mental health conditions, related to emergency department visits with a suicidal ideation or intentional self-inflicted injury diagnosis across groups that may be helpful for understanding suicide risk. It is urgent that we improve our understanding, assessment, and treatment of suicidality and self-harm in these groups through more research and clinical efforts.

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5. Hamblin MR. Could Photobiomodulation Treat Autism Spectrum Disorder?. Photobiomodul Photomed Laser Surg;2022 (May 25)

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6. Hoshina N, Johnson-Venkatesh EM, Rally VR, Sant J, Hoshina M, Seiglie MP, Umemori H. ASD/OCD-Linked Protocadherin-10 Regulates Synapse, But Not Axon, Development in the Amygdala and Contributes to Fear- and Anxiety-Related Behaviors. J Neurosci;2022 (May 25);42(21):4250-4266.

The Protocadherin-10 (PCDH10) gene is associated with autism spectrum disorder (ASD), obsessive-compulsive disorder (OCD), and major depression (MD). The PCDH10 protein is a homophilic cell adhesion molecule that belongs to the δ2-protocadherin family. PCDH10 is highly expressed in the developing brain, especially in the basolateral nucleus of the amygdala (BLA). However, the role of PCDH10 in vivo has been debatable: one paper reported that a Pcdh10 mutant mouse line showed changes in axonal projections; however, another Pcdh10 mutant mouse line was reported to have failed to detect axonal phenotypes. Therefore, the actual roles of PCDH10 in the brain remain to be elucidated. We established a new Pcdh10 KO mouse line using the CRISPR/Cas9 system, without inserting gene cassettes to avoid nonspecific effects, examined the roles of PCDH10 in the brain, and studied the behavioral consequences of Pcdh10 inactivation. Here, we show that Pcdh10 KO mice do not show defects in axonal development. Instead, we find that Pcdh10 KO mice exhibit impaired development of excitatory synapses in the dorsal BLA. We further demonstrate that male Pcdh10 KO mice exhibit reduced anxiety-related behaviors, impaired fear conditioning, decreased stress-coping responses, and mildly impaired social recognition and communication. These results indicate that PCDH10 plays a critical role in excitatory synapse development, but not axon development, in the dorsal BLA and that PCDH10 regulates anxiety-related, fear-related, and stress-related behaviors. Our results reveal the roles of PCDH10 in the brain and its relationship to relevant psychiatric disorders such as ASD, OCD, and MD.SIGNIFICANCE STATEMENT Protocadherin-10 (PCDH10) encodes a cell adhesion molecule and is implicated in autism spectrum disorder (ASD), obsessive-compulsive disorder (OCD), and major depression (MD). PCDH10 is highly expressed in the basolateral nucleus of the amygdala (BLA). However, the phenotypes of previously published Pcdh10 mutant mice are debatable, and some are possibly because of the nonspecific effects of the LacZ/Neo cassette inserted in the mice. We have generated a new Pcdh10 mutant mouse line without the LacZ/Neo cassette. Using our new mouse line, we reveal the roles of PCDH10 for excitatory synapse development in the BLA. The mutant mice exhibit anxiety-related, fear-related, and stress-related behaviors, which are relevant to ASD, OCD, and MD, suggesting a possible treatment strategy for such psychiatric disorders.

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7. Jain V, Selvaraj A, Mittal R, Rani P, Kilpattu Ramaniharan A, Agastinose Ronickom JF. Automated Diagnosis of Autism Spectrum Disorder Condition Using Shape Based Features Extracted from Brainstem. Stud Health Technol Inform;2022 (May 25);294:53-57.

Alterations to the brainstem can hamper cognitive functioning, including audiovisual and behavioral disintegration, leading to individuals with Autism Spectrum Disorder (ASD) face challenges in social interaction. In this study, a process pipeline for the diagnosis of ASD has been proposed, based on geometrical and Zernike moments features, extracted from the brainstem of ASD subjects. The subjects considered for this study are obtained from publicly available data base ABIDE (300 ASD and 300 typically developing (TD)). Distance regularized level set (DRLSE) method has been used to segment the brainstem region from the midsagittal view of MRI data. Similarity measures were used to validate the segmented images against the ground truth images. Geometrical and Zernike moments features were extracted from the segmented images. The significant features were used to train Support vector machine (SVM) classifier to perform classification between ASD and TD subjects. The similarity results show high matching between DRLSE segmented brainstem and ground truth with high similarity index scores of Pearson Heron-II (PH II) = 0.9740 and Sokal and Sneath-II (SS II) = 0.9727. The SVM classifier achieved 70.53% accuracy to classify ASD and TD subjects. Thus, the process pipeline proposed in this study is able to achieve good accuracy in the classification of ASD subjects.

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8. Morris SL, Vollmer TR. The matching law provides a quantitative description of social time allocation in children with autism. J Appl Behav Anal;2022 (May 24)

Recent research has developed and evaluated assessments of sociability in which time allocation near or away from an adult who initiates social interactions is used to characterize the participant as social, indifferent, or avoidant of social interaction. Though these qualitative outcomes have been useful, no studies have evaluated methods of obtaining more quantitative measures of sociability. The matching law has been demonstrated to describe a wide range of human behavior and may also be useful in describing social time allocation. We adapted the matching law and assessment of sociability procedures with the aim of providing a more precise, quantitative measure of sociability. We fitted the matching equation to the social time allocation data of 8 children with autism spectrum disorder. The equation was effective in quantifying sociability, accounted for a large proportion of variance in participants’ behavior, did so equally well for participants who were social and avoidant, and provided a more sensitive measure relative to those used in previous research. The implications of this methodology, its potential utility, and directions for future research are discussed.

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9. Rahman M, van Boxtel JJA. Seeing faces where there are none: Pareidolia correlates with age but not autism traits. Vision Res;2022 (May 21);199:108071.

Previous research has found that individuals with autism spectrum disorder experience difficulties when visually processing face stimuli compared to developmentally typical individuals. Whether, in the typically-developing population, face detection depends on autism-like traits (ALTs) is less clear. In this report, we aimed to develop an experimental design that is more sensitive to any individual differences in face detection than previous reports. We employed pareidolia, that is, cases where non-face stimuli are perceived to be faces, assuming this is more difficult than detection of ‘real’ faces, decreasing changes of ceiling performance. We also show multiple faces per trial, allowing for a more graded assessment of face detection ability. Participants were 263 individuals aged between 18 and 82 years of age. Pareidolia was investigated in two online experiments, with different types of stimuli: objects that could be perceived as faces (i.e., embedded faces task) and Mooney faces (Mooney face task). In the latter condition, we also investigated the face inversion effect. We found that neither detection ability or the inversion effect depended on ALTs. We did find a dependence of age for both measures, and a complex dependence on gender for Mooney faces. Our data suggest that face detection (and specifically pareidolia) does not depend on ALTs, but does depend on the age of the observer. The dependence on age appears to be different between the two experiments, suggesting that the underlying mechanisms necessary for face detection in our two experiments mature and decline at different rates.

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10. Rajan-Babu IS, Lian M, Chong SS. Triplet-Primed PCR Assays for Accurate Screening of FMR1 CGG Repeat Expansion and Genotype Verification. Curr Protoc;2022 (May);2(5):e427.

Fragile X syndrome and other fragile X-associated disorders are caused by the full-mutation (>200 copies) and premutation (55 to 200 copies) expansion, respectively, of the CGG short tandem repeat in the fragile X messenger ribonucleoprotein 1 (FMR1) gene. Clinical diagnostic laboratories use Southern blot analysis and polymerase chain reaction (PCR)-based tests to detect and/or size the FMR1 CGG repeats. The development of sensitive and high-throughput triplet-primed PCR (TP-PCR) assays has diminished the need to subject all samples to Southern blot analysis, which is both labor- and time-intensive. In this article, we describe two direct TP-PCR (dTP-PCR) assays for the detection of FMR1 CGG repeat expansions. We outline a protocol that is based on melting curve analysis of dTP-PCR amplicons for a rapid and cost-effective first-tier screening and identification of individuals with premutation and full-mutation expansions. We also describe a protocol that employs capillary electrophoresis to resolve the dTP-PCR amplicon fragments and to estimate the repeat sizes of normal (5 to 44 copies), intermediate (45 to 54 copies), and premutation alleles, as well as to detect full mutations and determine the structure of the FMR1 alleles. © 2022 The Authors. Current Protocols published by Wiley Periodicals LLC. Basic Protocol 1: Direct triplet-primed PCR master mix preparation and amplification of the FMR1 CGG repeat locus for melting curve analysis Basic Protocol 2: Melting curve analysis of direct triplet-primed PCR amplicons on the Rotor-Gene Q MD × 5plex high-resolution melt platform Alternate Protocol: Melting curve analysis of direct triplet-primed PCR amplicons on the LightCycler 480 system Basic Protocol 3: Generation of direct triplet-primed PCR melting curve analysis profiles Basic Protocol 4: Direct triplet-primed PCR master mix preparation and amplification of the FMR1 CGG repeat locus for capillary electrophoresis Basic Protocol 5: Generation of control FMR1 plasmids for direct triplet-primed PCR melting curve analysis Basic Protocol 6: Sanger sequencing assay to verify FMR1 CGG repeat size and structure of plasmid DNA controls.

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11. Riggs ER, Bingaman TI, Barry CA, Behlmann A, Bluske K, Bostwick B, Bright A, Chen CA, Clause AR, Dharmadhikari AV, Ganapathi M, Gonzaga-Jauregui C, Grant AR, Hughes MY, Kim SR, Krause A, Liao J, Lumaka A, Mah M, Maloney CM, Mohan S, Osei-Owusu IA, Reble E, Rennie O, Savatt JM, Shimelis H, Siegert RK, Sneddon TP, Thaxton C, Toner KA, Tran KT, Webb R, Wilcox EH, Yin J, Zhuo X, Znidarsic M, Martin CL, Betancur C, Vorstman JAS, Miller DT, Schaaf CP. Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels. Genet Med;2022 (May 25)

PURPOSE: Neurodevelopmental disorders (NDDs), such as intellectual disability (ID) and autism spectrum disorder (ASD), exhibit genetic and phenotypic heterogeneity, making them difficult to differentiate without a molecular diagnosis. The Clinical Genome Resource Intellectual Disability/Autism Gene Curation Expert Panel (GCEP) uses systematic curation to distinguish ID/ASD genes that are appropriate for clinical testing (ie, with substantial evidence supporting their relationship to disease) from those that are not. METHODS: Using the Clinical Genome Resource gene-disease validity curation framework, the ID/Autism GCEP classified genes frequently included on clinical ID/ASD testing panels as Definitive, Strong, Moderate, Limited, Disputed, Refuted, or No Known Disease Relationship. RESULTS: As of September 2021, 156 gene-disease pairs have been evaluated. Although most (75%) were determined to have definitive roles in NDDs, 22 (14%) genes evaluated had either Limited or Disputed evidence. Such genes are currently not recommended for use in clinical testing owing to the limited ability to assess the effect of identified variants. CONCLUSION: Our understanding of gene-disease relationships evolves over time; new relationships are discovered and previously-held conclusions may be questioned. Without periodic re-examination, inaccurate gene-disease claims may be perpetuated. The ID/Autism GCEP will continue to evaluate these claims to improve diagnosis and clinical care for NDDs.

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12. Roshini R, Jason BM, Marta IG. Increased context adjustment is associated with auditory sensitivities but not with autistic traits. Autism Res;2022 (May 24)

Bayesian models of autism suggest that alterations in context-sensitive prediction error weighting may underpin sensory perceptual alterations, such as hypersensitivities. We used an auditory oddball paradigm with pure tones arising from high or low uncertainty contexts to determine whether autistic individuals display differences in context adjustment relative to neurotypicals. We did not find group differences in early prediction error responses indexed by mismatch negativity. A dimensional approach revealed a positive correlation between context-dependent prediction errors and subjective reports of auditory sensitivities, but not with autistic traits. These findings suggest that autism studies may benefit from accounting for sensory sensitivities in group comparisons. LAY SUMMARY: We aimed to understand if autistic and non-autistic groups showed differences in their electrical brain activity measured by electroencephalography (EEG) when listening to surprising tones infrequently embedded in a statistical pattern. We found no differences between the autistic and the non-autistic group in their EEG response to the surprising sound even if the pattern switched, indicating their ability to learn a pattern. We did find that, as subjective sensory sensitivities (but not autistic traits) increased, there were increasingly large differences between the EEG responses to surprising tones that were embedded in the different statistical patterns of tones. These findings show that perceptual alterations may be a function of sensory sensitivities, but not necessarily autistic traits. We suggest that future EEG studies in autism may benefit from accounting for sensory sensitivities.

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13. Slanzi CM, Vollmer TR, Iwata BA, Kronfli FR, Williams LP, Perez BC. Further evaluation of functional analysis screening methods in early autism intervention. J Appl Behav Anal;2022 (May 24)

A goal of some functional analysis (FA) variations is to reduce assessment time while still maintaining efficacy. This may be especially important when conducting FAs in early intervention programs, where time is a crucial commodity. To that end, we evaluated a model for using the results of the no-interaction condition as a screening for behavioral function and to guide selection of FA test conditions with 20 participants (22 assessments) aged 3 to 7 years old. We used the no-interaction condition to develop hypotheses for both automatic reinforcement and socially mediated reinforcement. The outcome of the no-interaction condition guided the selection of test conditions for the remainder of the FA. We also incorporated methods from prior FA studies (e.g., divided attention) to modify the test conditions. We obtained differentiated results in 91% of assessments, all within 70 min and, as such, extended evidence that an FA can be completed in little time without sacrificing efficacy.

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14. Stickley A, Shirama A, Kamio Y, Takahashi H, Inagawa T, Saito A, Sumiyoshi T. Association between autistic traits and binge drinking: Findings from Japan. Soc Psychiatry Psychiatr Epidemiol;2022 (May 24)

PURPOSE: Substance misuse may be elevated in some individuals with autism spectrum disorder (ASD). As yet, however, little is known about the association between autistic traits (AT) and substance use/misuse in adults. This study examined the association between AT and binge drinking (BD) among individuals in Japan. METHODS: Data were analyzed from 1452 individuals aged 18 and above collected during an online survey in February 2021. Self-reported information was obtained on BD assessed as consuming 5 or more (males) or 4 or more (females) drinks containing any kind of alcohol within a 2-h period. AT were assessed with the Japanese version of the Autism Spectrum Quotient – the AQ-J-10. Logistic regression analysis was used to examine associations. RESULTS: The prevalence of past-month BD was significantly higher in individuals with AT compared to those without AT (42.7% > 27.6%). In a fully adjusted analysis that controlled for mental health (anxiety, depression) and attention-deficit/hyperactivity disorder symptoms, individuals with AT had significantly higher odds for BD once a week or more often (OR: 1.54, 95%CI: 1.04-2.29). AT were also associated with significantly higher odds for BD among women (OR: 2.27, 95%CI: 1.08-4.76), and those aged 18-34 (OR: 2.37, 95%CI: 1.09-5.18) and aged 60 and above (OR: 2.15, 95%CI: 1.02-4.53). CONCLUSION: Individuals with AT have higher odds for BD. Increased efforts to detect alcohol use/misuse in adults with AT and AT in adults misusing alcohol may be efficacious in efforts to manage symptoms and eliminate harmful alcohol misuse.

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15. Yu T, Chang KC, Kuo PL. Paternal and maternal psychiatric disorders associated with offspring autism spectrum disorders: A case-control study. J Psychiatr Res;2022 (May 15);151:469-475.

A family history of psychiatric diseases was suggested as one risk factor for autism spectrum disorders (ASD). Our aim was to assess the association of paternal and maternal diagnosis of psychiatric disorders with the risk of ASD in offspring in Taiwan. We conducted a population-based case-control study. Using several linked national databases, we obtained 1,000,939 singleton birth records born between 2004 and 2008. We followed these children up to 2015 for cases of ASD, using diagnostic codes in the National Health Insurance databases. There were 8,933 ASD cases and each case was matched to ten controls by sex and year of birth. We extracted their parental diagnosis of psychiatric disorders and performed conditional logistic regression models to assess the association of interest. Our sample included 8,933 cases and 89,330 controls. Eighty-six percent of the sample were boys. After adjustment for parental age, family income, and urbanization, we found that parental psychiatric diseases were significantly associated with ASD, including schizophrenic and psychotic disorders, mood, anxiety and personality disorders, with adjusted odds ratios ranging from 1.32 to 2.39. Notably, the effect estimates were all larger for maternal diagnosis than paternal diagnosis when stratified by mothers or fathers. Cases of ASD are more likely to be born to parents with psychiatric disorders than their counterparts. Maternal psychiatric diagnosis seems to have a larger influence than paternal diagnosis. Both genetics and maternal environmental factors may contribute to the association observed between parental psychiatric diseases and child ASD.

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16. Zhao L, Li Y, Kou X, Chen B, Cao J, Li J, Zhang J, Wang H, Zhao J, Shi S. Stem Cells from Human Exfoliated Deciduous Teeth Ameliorate Autistic-Like Behaviors of SHANK3 Mutant Beagle Dogs. Stem Cells Transl Med;2022 (May 24)

Mesenchymal stem cell-based therapy has emerged as a great potential approach to treat individuals with autism spectrum disorders (ASD), a group of developmental disabilities characterized by impairments in social interaction and communication. Stem cells from human exfoliated deciduous teeth (SHED), holding earlier developing characteristics, have immune-modulatory and anti-inflammatory properties. To investigate whether SHED transplantation can rescue autistic-like symptoms in SHANK3 mutant beagle dogs, 12 SHANK3 mutant beagle dogs were randomly assigned into 2 groups according to their behavior evaluated by social interaction tests. Six mutant dogs received 6 intravenous infusions of SHED and were followed up for 3 months by testing social interaction and inflammatory cytokine levels. We found that infusion of SHED significantly improved impaired social novel preference of SHANK3 mutant beagle dogs at 1- and 3-month follow-ups. Social intimacies (following, sniffing, and licking) between mutant beagle dogs and human experimenters were partly improved. Stressed tail posture, indicating social stress, was also significantly alleviated. In addition, we showed that the levels of serum interferon-γ and interleukin-10 were notably increased and decreased, respectively, in SHANK3 mutant beagle dogs. Infusion of SHED was able to rescue altered interferon-γ and interleukin-10 levels. We failed to observe any serious adverse events after infusion of SHED. In summary, SHED transplantation may be a safe and effective therapy for ASD. The correction in the levels of serum interferon-γ and interleukin-10 may serve as an index to predict autistic severity and therapeutic outcomes.

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