1. Atherton G, Cross L. Reading the mind in cartoon eyes : Comparing human versus cartoon emotion recognition in those with high and low levels of autistic traits. Psychological reports. 2021 : 33294120988135.

People who have a high degree of autistic traits often underperform on theory of mind tasks such as perspective-taking or facial emotion recognition compared to those with lower levels of autistic traits. However, some research suggests that this may not be the case if the agent they are evaluating is anthropomorphic (i.e. animal or cartoon) rather than typically human. The present studies examined the relation between facial emotion recognition and autistic trait profiles in over 750 adults using either a standard or cartoon version of the Reading the Mind in the Eyes (RME) test. Results showed that those scoring above the clinical cut off for autistic traits on the Autism Quotient performed significantly worse than those with the lowest levels of autistic traits on the standard RME, while scores across these groups did not differ substantially on the cartoon version of the task. These findings add further evidence that theory of mind ability such as facial emotion recognition is not at a global deficit in those with a high degree of autistic traits. Instead, differences in this ability may be specific to evaluating human agents.

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2. Caruana N, White RC, Remington A. EXPRESS : Autistic traits and loneliness in autism are associated with increased tendencies to anthropomorphise. Q J Exp Psychol (Hove). 2021 : 17470218211005694.

Anthropomorphism – the attribution of human qualities to non-human objects – is believed to be a natural tendency which may serve several adaptive functions. One possibility is that anthropomorphism provides an egocentric heuristic by which we can understand the world. It may also be a strategy for reducing our subjective sense of loneliness. However not all humans exhibit the same propensity to anthropomorphise. Recent findings suggest that autistic individuals may be more likely to anthropomorphise than non-autistic individuals. In Study 1 we conducted a large-scale survey of autistic traits and dispositional anthropomorphism in the general population (n = 870). We found that individuals who reported having more autistic traits, had an increased dispositional tendency to anthropomorphise non-human entities. In Study 2 we more closely examined variation in anthropomorphism tendencies in a sample of autistic adults (n = 90) to better understand what might drive increased anthropomorphism in this population. We found that those with greater anthropomorphism tendencies experienced greater levels of self-reported loneliness. We propose that increased anthropomorphism might reflect reduced opportunities for social connection for autistic people and those with more autistic traits.

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3. Costa C, Cristea IA, Dal Bò E, Melloni C, Gentili C. Brain activity during facial processing in autism spectrum disorder : an activation likelihood estimation (ALE) meta-analysis of neuroimaging studies. J Child Psychol Psychiatry. 2021.

BACKGROUND : Though aberrant face processing is a hallmark of autistic spectrum disorder (ASD), findings on accompanying brain activity are divergent. Therefore, we conducted an activation likelihood estimation (ALE) meta-analysis of studies examining brain activity during face processing. METHODS : We searched PubMed and PsycINFO using combinations of terms as ‘fMRI’, ‘Autism Spectrum Disorder’, ‘Face Perception’. Eligible studies reported on DSM-diagnosed ASD individuals, compared to controls (HC), using face stimuli presented in fMRI and reporting whole-brain analysis coordinates. We compared two approaches : ‘convergence of differences’ (primary analysis) using study-level coordinates from ASD vs. HC contrasts, and ‘differences in convergence’ (secondary) pooling coordinates within each group separately, and contrasting the resultant ALE maps. RESULTS : Thirty-five studies (655 ASD and 668 HC) were included. Primary analysis identified a cluster in amygdala/parahippocampus where HC showed greater convergence of activation. Secondary analysis yielded no significant results. CONCLUSIONS : Results suggest that ASD dysfunction in face processing relies on structures involved in emotional processing rather than perception. We also demonstrate that the two ALE methodologies lead to divergent results.

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4. Dawson G. Assessment of outcomes in autism clinical trials over the course of development. Eur Neuropsychopharmacol. 2021.

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5. Dell’Osso L, Carmassi C, Cremone IM, Muti D, Salerni A, Barberi FM, Massimetti E, Gesi C, Politi P, Aguglia E, Maj M, Carpita B. Defining the Optimal Threshold Scores for Adult Autism Subthreshold Spectrum (AdAS Spectrum) in Clinical and General Population. Clinical practice and epidemiology in mental health : CP & EMH. 2020 ; 16 : 204-11.

BACKGROUND : The Adult Autism Subthreshold Spectrum (AdAS Spectrum) is a recently developed instrument tailored to assess the broad range of full-threshold as well as sub-threshold manifestations related to the autism spectrum. Although it has proved to be a valuable instrument for quantitative assessment of autistic symptoms, the AdAS Spectrum still lacks validated diagnostic thresholds. OBJECTIVE : The aim of this study was to define the best cut-off scores of the AdAS Spectrum for determining the presence of subthreshold autistic traits as well as a clinically significant autism spectrum disorder (ASD). METHODS : Our sample was composed of 39 patients with full-blown ASD, 73 subjects with autistic traits, and 150 healthy controls. Subjects were evaluated by trained psychiatrists, who performed a clinical diagnosis according to DSM-5 and then assessed with the AdAS Spectrum and the Autism Spectrum Quotient. RESULTS : Our results showed that the most discriminant cut-off scores were 70 for identifying subjects with full-blown ASD, and 43 for determining the presence of significant autistic traits. CONCLUSION : The threshold values proposed here showed satisfying levels of specificity and sensibility, as well as a good agreement with the diagnosis according to DSM-5 criteria, confirming the validity of the AdAS Spectrum as a psychometric tool for measuring ASD-related conditions in the clinical and general population.

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6. Emanuele M, Nazzaro G, Marini M, Veronesi C, Boni S, Polletta G, D’Ausilio A, Fadiga L. Motor synergies : Evidence for a novel motor signature in autism spectrum disorder. Cognition. 2021 : 104652.

In autism spectrum disorder (ASD), socio-communicative impairments and stereotypical behaviours are paralleled by sensorimotor deficits. Individuals with ASD show an altered selection of motor parameters, resulting in clumsy and fragmented actions. Here, we investigated inter-joint coordination and motor synergies as a potential substrate of motor control problems in ASD. Synergies enable co-controlling redundant motor degrees of freedom (DoF, e.g. joint angles, muscles) by mapping behavioural goals into a flexible and low-dimensional set of variables. This mechanism simplifies motor control and helps to find unambiguous solutions for motor tasks. In a reaching-grasping paradigm, children with ASD showed reduced coupling between DoF, which correlated with socio-communicative symptoms severity. Impaired synergies may help to frame well-established motor problems in ASD, including impaired motor sequencing and abnormal trial-to-trial motor variability. On the other hand, synergies also provide an effective and compact coding system of observed actions. Impaired synergies may thus jeopardize motor interaction by initiating bottom-up cascade effects, leading to pervasive impairments of social behaviour. Finally, we trained an automatic classification algorithm to distinguish between ASD and typically developing (TD) participants based on reaching-grasping kinematics. Classification accuracy reached up to 0.947. This result corroborates and expands previous accounts claiming that motor-based early recognition is feasible and effective in ASD.

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7. Fernandez A, Drozd M, Thümmler S, Bardoni B, Askenazy F, Capovilla M. A novel microduplication in INPP5A segregates with schizophrenia spectrum disorder in the family of a patient with both childhood onset schizophrenia and autism spectrum disorder. Am J Med Genet A. 2021.

Childhood-Onset Schizophrenia (COS) is a very rare and severe psychiatric disorder defined by adult schizophrenia symptoms occurring before the age of 13. We report a microduplication in the 10q26.3 region including part of the Inositol Polyphosphate-5-Phosphatase A (INPP5A) gene that segregates with Schizophrenia Spectrum Disorders (SSDs) in the family of a female patient affected by both COS and Autism Spectrum Disorder (ASD). Phenotyping and genotyping (including CGH-array) were performed for mother, healthy sister, and affected child according to the GenAuDiss protocol (NCT02565524). The duplication size is 324 kb and is present in a patient with COS and in her mother with SSD, but not in the patient’s healthy sister. INPP5A encodes a membrane-associated 43 kDa type I inositol 1,4,5-trisphosphate (InsP3) 5-phosphatase. This protein is found both in mouse and human brains and we found that its Drosophila homologue 5PtaseI is specifically expressed in the central nervous system. Hydrolyzed products from InsP3 5-phosphatases mobilize intracellular calcium, which is relevant for dendritic spine morphogenesis in neurons and altered in both schizophrenia and ASD. These may constitute arguments in favor of this gene alteration in the pathophysiology of COS.

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8. Garbulowski M, Smolinska K, Diamanti K, Pan G, Maqbool K, Feuk L, Komorowski J. Interpretable Machine Learning Reveals Dissimilarities Between Subtypes of Autism Spectrum Disorder. Front Genet. 2021 ; 12 : 618277.

Autism spectrum disorder (ASD) is a heterogeneous neuropsychiatric disorder with a complex genetic background. Analysis of altered molecular processes in ASD patients requires linear and nonlinear methods that provide interpretable solutions. Interpretable machine learning provides legible models that allow explaining biological mechanisms and support analysis of clinical subgroups. In this work, we investigated several case-control studies of gene expression measurements of ASD individuals. We constructed a rule-based learning model from three independent datasets that we further visualized as a nonlinear gene-gene co-predictive network. To find dissimilarities between ASD subtypes, we scrutinized a topological structure of the network and estimated a centrality distance. Our analysis revealed that autism is the most severe subtype of ASD, while pervasive developmental disorder-not otherwise specified and Asperger syndrome are closely related and milder ASD subtypes. Furthermore, we analyzed the most important ASD-related features that were described in terms of gene co-predictors. Among others, we found a strong co-predictive mechanism between EMC4 and TMEM30A, which may suggest a co-regulation between these genes. The present study demonstrates the potential of applying interpretable machine learning in bioinformatics analyses. Although the proposed methodology was designed for transcriptomics data, it can be applied to other omics disciplines.

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9. Hudac CM, Santhosh M, Celerian C, Chung KM, Jung W, Webb SJ. The Role of Racial and Developmental Experience on Emotional Adaptive Coding in Autism Spectrum Disorder. Developmental neuropsychology. 2021 : 1-16.

Sensitivity to emotional face aids in rapid detection and evaluation of others, such that by school-age, children and youth exhibit adult-like patterns when the prolonged viewing of an emotional face distorts the perception of a subsequent face. However, the developmental considerations of this phenomenon (known as emotional adaptive coding) are unclear given ongoing maturational and experiential changes, including the influence of own-race experiences or the lack of face expertise, as is evident in autism spectrum disorder (ASD). This study addressed whether emotional adaptive coding is sensitive to factors of face perception expertise, specifically self-race and developmental experience, in adults (age 19-28 years) and youth (age 10-16 years). Emotional adaptive coding was not influenced by race expertise (i.e., other versus same race identity) in White and Asian adults. Emotional adaptation coding during childhood and adolescence is consistent with adults, though youth with ASD exhibited stronger adaptor after-effects in response to other-race faces, relative to TD youth and adults. By extending prior work to examine the integration of race and emotional adaptive coding in ASD, we discovered that the strength of response in ASD is atypical when viewing other-race faces, which clarifies the role of racial and facial experience on emotional face adaption.

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10. Kawamoto A, Kajiume A, Yoshida H, Toshima T, Kobayashi M. Individual Differences in Autistic Traits are Associated with Serotonin Transporter Gene Polymorphism Through Medial Prefrontal Function : A Study Using NIRS. Neuroscience. 2021 ; 458 : 43-53.

Autism spectrum disorder (ASD) is a heritable neurodevelopmental disorder that can vary considerably in severity. Autistic traits are distributed continuously across populations, even in sub-clinical individuals. Serotonin transporter-gene polymorphic region (5-HTTLPR) has been studied as a candidate genetic factor related to ASD, however results have been inconsistent. 5-HTTLPR is implicated in the function of medial prefrontal cortex (mPFC), a region associated with the social abnormalities found in ASD. Here we hypothesize that autistic traits are affected by the 5-HTTLPR genotype indirectly through mPFC mediation. Using near-infrared spectroscopy (NIRS), we first examined mPFC activation in people with ASD when they performed a facial affect-labeling task. Compared with a typical development group, the ASD group showed significantly lower mPFC activation during the task. Using the same task paradigm, we next investigated the relationship between autistic traits and 5-HTTLPR in sub-clinical participants, and whether associations were mediated by mPFC function. Correlation analyses indicated that participants with a large number of 5-HTTLPR L-alleles had high-level autistic traits related to social skills and low right mPFC activation. We also observed a significant negative correlation between autistic traits related to social skills and right mPFC activation. Structural equation analysis suggested a significant indirect effect of 5-HTTLPR on Autism-Spectrum Quotients, with right mPFC activation acting as a mediator. These results suggest that the diverse autistic traits related to social skills seen in the general population are associated with the 5-HTTLPR genotype, and that this association is mediated by right mPFC function.

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11. Krämer J, Beer M, Bode H, Winter B. Two Novel Compound Heterozygous Mutations in the TRAPPC9 Gene Reveal a Connection of Non-syndromic Intellectual Disability and Autism Spectrum Disorder. Front Genet. 2020 ; 11 : 972.

INTRODUCTION : Autism spectrum disorder (ASD) is characterized by deficits in communication, social interaction, and repetitive behavior. Up to 70% of ASD cases are linked with intellectual disability (ID). The major genetic causes for ASD and ID are largely unknown, however, a shared genetic etiology between ASD and ID must be assumed. The trafficking protein particle complex subunit 9 (TRAPPC9) is highly expressed in postmitotic neurons of the cerebral cortex, playing a key role in development. Among 43 reported cases with mutations in TRAPPC9, all (100%) showed ID and developmental delay. Among the cases including information about ASD, 26% were affected (19 cases with information, among them 5 with ASD). Nevertheless, in some cases not classified as ASD, descriptions of autistic features like hand-flapping movements were present. CLINICAL FINDINGS : The affected individual presented with delay of speech development. Physical development was normal. Besides lateral slope of the eye-lid axis no facial abnormalities were evident. The individual was diagnosed with ID and ASD by structured testing. Cerebral MRI revealed associated abnormalities. GENETICAL FINDINGS : The chromosome set was 46,XY without structural changes. Array-CGH showed a normal molecular karyotype (arr(1-22)x2,(X,Y)x1). PCR for the FMR1 gene showed 41 ± 1 CGG repeats, and therefore no evidence of fragile X syndrome. A panel diagnostic for syndromal ID (CASK, EP300, HIVEP2, KIF1A, TRAPPC9) revealed two structural changes in TRAPPC9 in the compound heterozygosity. The mutations c.1678C > T (p.Arg560Cys) and c.3370C > T (p.Pro1124Ser) are classified as missense mutations and are both not described in the literature. CONCLUSION : We report two new missense mutations in the TRAPPC9 gene in one individual with ID and ASD. The TRAPPC9 gene should be part of the diagnostic assessment in ID. ASD must be considered as a feature of TRAPPC9-associated ID. It might have been neglected in the literature and should result in specific testing for ASD in affected individuals.

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12. Marshall B, Myers C. Does Embedding Restricted Interests of Students with Autism in Text Improve Reading Comprehension ?. Dev Neurorehabil. 2021 : 1-8.

Reading comprehension deficits are common for students with Autism Spectrum Disorder (ASD) but there are few studies that have examined specific strategies for teaching reading comprehension to this population. The current study investigated the effect of embedding the restricted interests (RI) of two high school students with ASD in text on reading comprehension performance using a single-subject, multi-element research design. Neither participant showed an increase in the number of relevant words shared during oral retell and only one participant showed an increase in the percent of correctly answered reading comprehension questions. Embedding the RI in text more frequently did not impact reading comprehension performance. The results indicate there are potential variables that may limit the effect of embedding the RI of students with ASD in text on reading comprehension.

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13. McQuaid GA, Pelphrey KA, Bookheimer SY, Dapretto M, Webb SJ, Bernier RA, McPartland JC, Van Horn JD, Wallace GL. The gap between IQ and adaptive functioning in autism spectrum disorder : Disentangling diagnostic and sex differences. Autism. 2021 : 1362361321995620.

Adaptive functioning refers to skills that are vital to success in day-to-day life, including daily living (e.g. grocery shopping, food preparation, transportation use), communication (e.g. verbal expression of needs), and socialization skills (e.g. interpersonal skills, including expressing and recognizing emotions, and understanding turn-taking in conversation). Among autistic individuals without intellectual disability, adaptive functioning is not commensurate with intellectual ability (IQ), and instead a gap exists between these individuals’ intellectual ability and their adaptive skills. Further, these autistic individuals show a widening of this gap with increasing age. Existing studies of the gap between IQ and adaptive functioning have studied predominantly male samples. Thus, we do not know if the gap also exists in autistic females. We therefore looked at adaptive functioning and the gap between IQ and adaptive functioning in a large sample of autistic girls and boys without intellectual disability. To disentangle effects of group (autistic vs typically developing) from effects of sex (girls vs boys), we compared autistic girls and boys to one another as well as to their same-sex typically developing peers. Analyses took into consideration differences in IQ between autistic and typically developing youth. We found autistic girls, like autistic boys, show lower adaptive functioning than their same-sex typically developing peers. Results underscore the need to evaluate adaptive functioning in autistic individuals without intellectual disability and to provide necessary supports. The large gap between intellectual ability and socialization skills, in particular, may be of critical importance in improving our understanding of outcomes and mental health difficulties among autistic females.

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14. Pandina G. The role of digital medicine in autism spectrum disorder. Eur Neuropsychopharmacol. 2021.

The field of digital medicine is concerned with the use of technologies as tools for measurement and intervention in the service of human health (Coravos et al, 2019), and may facilitate development of improved therapies for ASD. The use of established and emerging technologies to diagnose, assess, treat, and coordinate care expanded widely over the past ten years. Technologic advances promise to foster earlier and more accurate diagnosis, improved disposition, treatment access and planning, and provide better outcomes and quality of life for individuals with ASD. Two main areas are reviewed below : 1) assessment diagnosis, and outcome, and ; 2) digital therapeutics.

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15. Puig-Lagunes Á A, Rocha L, Morgado-Valle C, BeltrÁn-Parrazal L, LÓpez-Meraz ML. Brain and plasma amino acid concentration in infant rats prenatally exposed to valproic acid. Anais da Academia Brasileira de Ciencias. 2021 ; 93(2) : e20190861.

Autism spectrum disorder is associated with alterations in GABAergic and glutamatergic neurotransmission. Here, we aimed to determine the concentration of GABA, glutamate, glutamine, aspartate, taurine, and glycine in brain tissue and plasma of rats prenatally exposed to valproic acid (VPA), a well-characterized experimental model of autism. Pregnant rats were injected with VPA (600mg/Kg) during the twelfth-embryonic-day. Control rats were injected with saline. On the fourteen-postnatal-day, rats from both groups (males and females) were anesthetized, euthanized by decapitation and their brain dissected out. The frontal cortex, hippocampus, amygdala, brain stem and cerebellum were dissected and homogenized. Homogenates were centrifuged and supernatants were used to quantify amino acid concentrations by HPLC coupled with fluorometric detection. Blood samples were obtained by a cardiac puncture ; plasma was separated and deproteinized to quantify amino acid concentration by HPLC. We found that, in VPA rats, glutamate and glutamine concentrations were increased in hippocampus and glycine concentration was increased in cortex. We did not find changes in other regions or in plasma amino acid concentration in the VPA group with respect to control group. Our results suggest that VPA exposure in utero may impair inhibitory and excitatory amino acid transmission in the infant brain.

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16. Santoro G, Castaldi B, Cuman M, Di Candia A, Pizzuto A, Sirico D, Cantinotti M, Garibaldi S, Pak V, Di Salvo G. Trans-catheter atrial septal defect closure with the new GORE® Cardioform ASD occluder : First European experience. International journal of cardiology. 2021 ; 327 : 68-73.

BACKGROUND : This perspective, observational study evaluated safety and efficacy of the GORE® Cardioform ASD Occluder (WL Gore & Associates, Flagstaff, AZ), compliant and potentially innovative prosthesis recently approved for closure of ostium secundum atrial septal defects (ASD). METHODS : Between January and June 2020, 43 unselected patients with -significant ASD were submitted to trans-catheter closure with GORE® Cardioform ASD Occluder at two high-volume Italian Pediatric Cardiology centers. Primary endpoints were procedural success and safety. Secondary endpoints were closure rate and clinical safety at 1-month follow-up. RESULTS : Patients’ age and weight were 8.2 ± 3.9 years (range 3-21, median 9.9) and 29.6 ± 15.3 kg (range 16-57, median 33.3), respectively. ASD diameter was 16.6 ± 4.5 mm (median 10), resulting in QP/QS of 1.7 ± 0.7 (median 1.6). Seventeen pts. (39.5%) were considered « surgical » candidates due to challenging septum morphology, ASD rim deficiency or ASD diameter/patient weight ratio ≥ 1.2. Device placement was successfully achieved in all but one patient (97.7%), in whom it embolized early after deployment, resulting in rescue surgical repair. No cross-over with different devices was recorded. Median procedure and fluoroscopy times were 40 and 6.8 min, respectively. Major adverse events were recorded in 7.0% (3 pts). Complete closure rate was 78.5% at discharge, rising to 92.9% (39/42 pts) at 1 month evaluation, without cardiac or extra-cardiac adverse events. « Challenging » procedures were more time-consuming but as effective and safe as the « simple » ones. CONCLUSIONS : The GORE® Cardioform ASD Occluder device was highly effective and versatile in closure of ASDs with different anatomy and size, even in challenging settings.

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17. Schmidt EM, Hoffman JA, Mulé C, Briesch A. Effects of a teacher training program to promote physically active play among preschoolers with autism spectrum disorders. Journal of school psychology. 2021 ; 85 : 57-79.

Wellness Enhancing Physical Activity for Young Children (WE PLAY) is an intervention intended to promote physical activity (PA) among typically-developing preschool children in child care settings. It was adapted for use by teachers who educate children with Autism Spectrum Disorders (ASD). This study used a multiple baseline design across participants to evaluate the impact of WE PLAY-Autism on teachers’ PA facilitating behaviors and on the PA levels of children with ASD. Visual analysis and effect size estimates indicated that two of the three teachers increased their PA facilitating behavior, although this was insufficient to demonstrate a functional relation. Children’s (n = 5) PA was measured daily during school hours using accelerometry. Visual analysis, which was further supported by effect size calculations, indicated higher average levels of moderate-to-vigorous PA (MVPA) among preschoolers with ASD in the intervention phase (Tau-U(A vs. B) = 0.53, p < .001, Hedges' g = 0.99, 95% CI [0.56, 1.43]) and post-training phase (Tau-U(A vs. B) = 0.55, p < .001, Hedges' g = 1.17, 95% CI [0.73, 1.60]) in comparison to the baseline phase. WE PLAY-Autism is an intervention deserving of further investigation given its meaningful impact on the MVPA of preschoolers with ASD paired with its potential for broad implementation in preschools.

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18. Seers K, Hogg RC. ‘You don’t look autistic’ : A qualitative exploration of women’s experiences of being the ‘autistic other’. Autism. 2021 : 1362361321993722.

Most autism spectrum condition research addresses the neurological and biological causes of autism spectrum condition, focusing upon deficits associated with autism spectrum condition and behavioural interventions designed to minimise these deficits. Little is known about the lived experiences of adult women on the autism spectrum and how they navigate social expectations around gender, autism spectrum condition and gendered understandings of autism spectrum condition. The lived experiences of eight women on the AS will be shared here, with attention to how gendered expectations influence women’s experiences of autism spectrum condition, their sense of self and well-being. Findings showed these women struggled to reconcile the expectations of others, particularly early in life. The women had difficultly conforming to stereotypical ideals of femininity, yet as they aged, they felt less need to conform, valuing their unique style and behaviours. The women also rejected deficit-oriented descriptions of autism spectrum condition generated by the medical community, preferring to focus on their strengths and unique characteristics. It is hoped this article helps psychologists and the wider community to understand and meet the needs of women on the AS.

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19. Tioleco N, Silberman AE, Stratigos K, Banerjee-Basu S, Spann MN, Whitaker AH, Turner JB. Prenatal maternal infection and risk for autism in offspring : A meta-analysis. Autism Res. 2021.

While prenatal maternal infection has received attention as a preventable and treatable risk factor for autism, findings have been inconsistent. This paper presents the results of a meta-analysis to determine whether the weight of the evidence supports such an association. Studies with a categorical diagnosis of autism as the outcome and an assessment of its association with prenatal maternal infection or fever (or the data necessary to compute this association) were included. A total of 36 studies met these criteria. Two independent reviewers extracted data on study design, methods of assessment, type of infectious agent, site of infection, trimester of exposure, definition of autism, and effect size. Analyses demonstrated a statistically significant association of maternal infection/fever with autism in offspring (OR = 1.32 ; 95% CI = 1.20-1.46). Adjustment for evident publication bias slightly weakened this association. There was little variation in effect sizes across agent or site of infection. Small differences across trimester of exposure were not statistically significant. There was some evidence that recall bias associated with status on the outcome variable leads to differential misclassification of exposure status. Nonetheless, the overall association is only modestly reduced when studies potentially contaminated by such bias are removed. Although causality has not been firmly established, these findings suggest maternal infection during pregnancy confers an increase in risk for autism in offspring. Given the prevalence of this risk factor, it is possible that the incidence of autism would be reduced by 12%-17% if maternal infections could be prevented or safely treated in a timely manner. LAY SUMMARY : This study is a meta-analysis of the association of maternal infection during pregnancy and subsequent autism in offspring. In combining the results from 36 studies of this association we find that a significant relationship is present. The association does not vary much across the types of infections or when they occur during pregnancy. We conclude that the incidence of autism could be substantially reduced if maternal infections could be prevented or safely treated in a timely manner.

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20. Volkmar FR, Woodbury-Smith M, Macari SL, Øien RA. Seeing the forest and the trees : Disentangling autism phenotypes in the age of DSM-5. Development and psychopathology. 2021 : 1-9.

This paper, written in honor of Professor Ed Zigler, focuses on some of the themes in developmental disabilities research that were so central to his work. It has now been nearly 80 years since Leo Kanner first identified the prototypic form – early infantile autism – of what is now autism spectrum disorder. In this article we summarize the development of the concept and the important accumulation of knowledge over time that has now led us to the recognition of a broader autism phenotype just as, at the same time, the current official diagnostic system in the USA has narrowed the concept. We also address current controversies regarding autism as the diagnosis is impacted by age and developmental factors, gender, and cultural issues. In parallel to the work on intellectual deficiency and development pioneered by Zigler and his colleagues, we summarize some of the challenges for the years ahead.

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21. Wang H, Avillach P. Autism Spectrum Disorders Classification using Genotype Data : A Deep Learning-based Predictive Classifier. JMIR medical informatics. 2021.

BACKGROUND : In the United States, there are 3 million people who have Autism Spectrum Disorder (ASD), and around 1 out of 59 children are diagnosed with ASD. People with ASD have characteristic social communication deficits and repetitive behaviors. The causes of the disorder remain unknown, however, in up to 25% of cases, a genetic cause can be identified. Detecting ASD as early as possible is desirable because early detection of ASD enables timely interventions on the children with ASD. Identification of ASD based on objective pathogenic mutation screening is a major first step towards early intervention and effective treatment of affected children. OBJECTIVE : Recent investigation interrogated genomics data for detecting and treating autism disorder, in addition to the conventional clinical interview as a diagnostic test. Since deep neural networks performs better than shallow machine learning models on complex and high-dimensional data, in this paper, we sought to apply deep learning to genetic data obtained across thousands of simplex families at-risk for autism spectrum disorder to identify contributory mutations and create an advanced diagnostic classifier for autism screening. METHODS : After preprocessing the genomics data from the Simons Simplex Collection, we extracted top ranking common variants that may be protective or pathogenic for autism based on Chi-Square test. A convolutional neural network-based diagnostic classifier is then designed using the identified significant common variants to predict autism. The performance is then compared with shallow machine learning-based classifiers and randomly selected common variants. RESULTS : The selected contributory common variants are significantly enriched in chromosome X while chromosome Y is also discriminatory in determining identification as autistic or non-autistic of an individual. ARSD, MAGEB16 and MXRA5 genes had the largest effect in the contributory variants. As a result, screening algorithms were adapted to include these common variants. The deep learning model yielded an AUC of 0.955 and an accuracy of 88% for identifying autism from non-autism individuals. We demonstrated a significant improvement over standard autism screening tools. CONCLUSIONS : The common variants are informative for autism identification. These findings also suggest that deep learning process is a reliable method in distinguishing the diseased group from the control group based on the common variants of autism.

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22. Yao F, Zhang K, Feng C, Gao Y, Shen L, Liu X, Ni J. Protein Biomarkers of Autism Spectrum Disorder Identified by Computational and Experimental Methods. Frontiers in psychiatry. 2021 ; 12 : 554621.

Background : Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder that affects millions of people worldwide. However, there are currently no reliable biomarkers for ASD diagnosis. Materials and Methods : The strategy of computational prediction combined with experimental verification was used to identify blood protein biomarkers for ASD. First, brain tissue-based transcriptome data of ASD were collected from Gene Expression Omnibus database and analyzed to find ASD-related genes by bioinformatics method of significance analysis of microarrays. Then, a prediction program of blood-secretory proteins was applied on these genes to predict ASD-related proteins in blood. Furthermore, ELISA was used to verify these proteins in plasma samples of ASD patients. Results : A total of 364 genes were identified differentially expressed in brain tissue of ASD, among which 59 genes were predicted to encode ASD-related blood-secretory proteins. After functional analysis and literature survey, six proteins were chosen for experimental verification and five were successfully validated. Receiver operating characteristic curve analyses showed that the area under the curve of SLC25A12, LIMK1, and RARS was larger than 0.85, indicating that they are more powerful in discriminating ASD cases from controls. Conclusion : SLC25A12, LIMK1, and RARS might serve as new potential blood protein biomarkers for ASD. Our findings provide new insights into the pathogenesis and diagnosis of ASD.

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23. Zhang M, Xu S, Chen Y, Lin Y, Ding H, Zhang Y. Recognition of affective prosody in autism spectrum conditions : A systematic review and meta-analysis. Autism. 2021 : 1362361321995725.

Differences in understanding others’ emotions and attitudes through features in speech (e.g. intonation) have been observed in individuals with autism spectrum conditions, which contribute greatly to their social communication challenges. However, some studies reported that individuals with autism spectrum condition performed comparably to typically developing individuals on affective prosody recognition. Here, we provide a comprehensive review with statistical analysis of 23 existing studies on this topic to examine potential factors that could explain the discrepancies. Compared with typically developing individuals, autism spectrum condition participants generally appeared to encounter more difficulties in affective prosody recognition. But this finding was likely due to the tendency of the existing research to overly focus on deficits in autism. The affective prosody recognition performance in individuals with autism spectrum condition was closely related to the number of answer options offered to them. Moreover, the degree of difficulty in affective prosody recognition encountered by individuals with autism spectrum condition varied across emotions. The findings of this systematic review highlighted the need for further research on affective prosody recognition in autism (e.g. studies that include tonal language speakers and autism spectrum condition individuals with lower cognitive or verbal abilities).

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