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One of the most reliable early predictors of autism is atypical social attention, particularly attenuated eye gaze contact. As a part of the InFoR cohort, a multicentric French longitudinal study, 88 autistic participants and 56 participants without autism performed a gaze discrimination task using 28 static pictures of faces with either direct or averted gaze. We monitored eye fixation behavior during face picture observation and analyzed subsequent key-press responses. The eyes of faces with direct gaze attracted more fixations than those of faces with averted gaze. Autistic participants showed significantly reduced Eye Fixations Indexes (EFI; a parameter derived from the number of fixations on eyes of the image; it reflects participant’s strategy of face observation) and longer response times (RTs), strongly and negatively correlated with each other. A mediational analysis demonstrated that the influence of group on RTs was mainly driven by the EFI. The EFI was related to the number of anticipatory saccades obtained for basic oculomotor tasks. The RTs were related to scores of Attention Deficit Hyperactivity Disorder Rating Scale (ADHD-RS), Behavior Rating Inventory of Executive Function (BRIEF) and severity of autism as tested by the Social Responsiveness Scale (SRS-2), but not to the level of social anxiety. Altogether we demonstrate that the eye fixation index during face observation was associated with attentional control and influenced judgment response of participants, while the task performance is affected by a wider range of individual variables.

Autism spectrum disorder (ASD) are neurodevelopmental conditions characterised by deficits in social communication and interaction and repetitive behaviours. Maternal immune activation (MIA) during the mid-pregnancy is a known risk factor for ASD. Although reported in 15% of affected individuals, little is known about the specificity of their clinical profiles. Adaptive skills represent a holistic approach to a person's competencies and reflect specifically in ASD, their strengths and difficulties. In this study, we hypothesised that ASD individual with a history of MIA (MIA + ) could be more severely socio-adaptively impaired than those without MIA during pregnancy (MIA - ). To answer this question, we considered two independent cohorts of individuals with ASD (PARIS study and FACE ASD) screened for pregnancy history, and used supervised and unsupervised machine learning algorithms. We included 295 mother–child dyads with 14% of them with MIA + . We found that ASD-MIA + individuals displayed more severe maladaptive behaviors, specifically in their socialization abilities. MIA + directly influenced individual's socio-adaptive skills, independent of other covariates, including ASD severity. Interestingly, MIA + affect persistently the socio-adaptive behavioral trajectories of individuals with ASD. The current study has a retrospective design with possible recall bias regarding the MIA event and, even if pooled from two cohorts, has a relatively small population. In addition, we were limited by the number of covariables available potentially impacted socio-adaptive behaviors. Larger prospective study with additional dimensions related to ASD is needed to confirm our results. Specific pathophysiological pathways may explain these clinical peculiarities of ASD- MIA + individuals, and may open the way to new perspectives in deciphering the phenotypic complexity of ASD and for the development of specific immunomodulatory strategies.

The early recognition of ASD in adults is challenging, in particular due to the lack of appropriate and robust diagnostic tools. We performed a psychometric validation and diagnostic accuracy study of the French version of the RAADS-R on a sample of 305 adults: 105 with ASD without ID, 99 with psychiatric disorders, and 103 non-psychiatric control groups. The French version of the RAADS-R demonstrates good reliability and diagnostic validity, suggesting that it can help clinicians during the diagnostic process in adults with ASD without ID. However, the finding that a two-factor structure better fits the results requires further validation. This study point out the need of further study of RAADS in psychiatric disorders group due to the relatively high false positive rate (55.6%) of ASD.

Introduction Early interventions for autistic children should target their quality of life (QoL) but require adapted measures. The association of a child's temperament and parental characteristics with the QoL of autistic children remains unknown. Methods We constructed an autism module based on a thematic analysis, a Delphi survey with experts, and a pre‐test with parents to be completed alongside the proxy version of the PedsQL 4.0. We explored compliance, responsiveness, internal consistency, convergent validity, and factor structure with 157 parents of autistic preschool children. We examined the association between child and parental characteristics with the QoL of autistic children using correlation analysis, principal component analysis, hierarchical ascending classification, and linear regression. Sociodemographic information was collected via multiple choice questions, autism severity via Autism Diagnostic Observation Schedule (ADOS) scores, and parental acceptance and child's temperament via the Acceptance and Action Questionnaire and the Emotionality, Activity, and Sociability. Results An autism module comprised of 27 items emerged. Psychometric evaluation resulted in a 24‐item autism module with good internal consistency and significant convergent validity. ADOS total score was not significantly related to QoL, contrary to children's sleep issues, children's emotionality, and parental acceptance. Conclusions The autism module is a reliable QoL proxy measure for autistic preschool children. Results suggest parental interventions targeting children's QoL.

Background Repetitive and restricted behaviors and interests (RRBI) are core symptoms of autism with a complex entity and are commonly categorized into ‘motor-driven’ and ‘cognitively driven’. RRBI symptomatology depends on the individual’s clinical environment limiting the understanding of RRBI physiology, particularly their associated neuroanatomical structures. The complex RRBI heterogeneity needs to explore the whole RRBI spectrum by integrating the clinical context [autistic individuals, their relatives and typical developing (TD) individuals]. We hypothesized that different RRBI dimensions would emerge by exploring the whole spectrum of RRBI and that these dimensions are associated with neuroanatomical signatures—involving cortical and subcortical areas. Method A sample of 792 individuals composed of 267 autistic subjects, their 370 first-degree relatives and 155 TD individuals was enrolled in the study. We assessed the whole patterns of RRBI in each individual by using the Repetitive Behavior Scale-Revised and the Yale-Brown Obsessive Compulsive Scale. We estimated brain volumes using MRI scanner for a subsample of the subjects ( n  = 152, 42 ASD, 89 relatives and 13 TD). We first investigated the dimensionality of RRBI by performing a principal component analysis on all items of these scales and included all the sampling population. We then explored the relationship between RRBI-derived factors with brain volumes using linear regression models. Results We identified 3 main factors (with 30.3% of the RRBI cumulative variance): Factor 1 (FA1, 12.7%) reflected mainly the ‘motor-driven’ RRBI symptoms; Factor 2 and 3 (respectively, 8.8% and 7.9%) gathered mainly Y-BOCS related items and represented the ‘cognitively driven’ RRBI symptoms. These three factors were significantly associated with the right/left putamen volumes but with opposite effects: FA1 was negatively associated with an increased volume of the right/left putamen conversely to FA2 and FA3 (all uncorrected p  < 0.05). FA1 was negatively associated with the left amygdala (uncorrected p  < 0.05), and FA2 was positively associated with the left parietal structure (uncorrected p  = 0.001). Conclusion Our results suggested 3 coherent RRBI dimensions involving the putamen commonly and other structures according to the RRBI dimension. The exploration of the putamen’s integrative role in RSBI needs to be strengthened in further studies.

Background Inhibitory control and attention processing atypicalities are implicated in various diseases, including autism spectrum disorders (ASD). These cognitive functions can be tested by using visually guided saccade-based paradigms in children, adolescents and adults to determine the time course of such disorders. Methods In this study, using Gap, Step, Overlap and Antisaccade tasks, we analyzed the oculomotor behavior of 82 children, teenagers and adults with high functioning ASD and their peer typically developing (TD) controls in a two-year follow-up study under the auspices of the InFoR - Autism project. Analysis of correlations between oculomotors task measurements and diagnostic assessment of attentional (ADHD-RS and ADHD comorbidity indices) and executive functioning (BRIEF scales) were conducted in order to evaluate their relationship with the oculomotor performance of participants with ASD. Results As indicated by the presence of a Gap and Overlap effects in all age groups, the oculomotor performances of ASD participants showed a preserved capability in overt attention switching. In contrast, the difference in performances of ASD participants in the Antisaccade task, compared to their TD peers, indicated an atypical development of inhibition and executive functions. From correlation analysis between our oculomotor data and ADHD comorbidity index, and scores of attention and executive function difficulties, our findings support the hypothesis that a specific dysfunction of inhibition skills occurs in ASD participants that is independent of the presence of ADHD comorbidity. Limitations These include the relatively small sample size of the ASD group over the study’s two-year period, the absence of an ADHD-only control group and the evaluation of a TD control group solely at the study’s inception. Conclusions Children and teenagers with ASD have greater difficulty in attention switching and inhibiting prepotent stimuli. Adults with ASD can overcome these difficulties, but, similar to teenagers and children with ASD, they make more erroneous and anticipatory saccades and display a greater trial-to-trial variability in all oculomotor tasks compared to their peers. Our results are indicative of a developmental delay in the maturation of executive and attentional functioning in ASD and of a specific impairment in inhibitory control.

Background Autism spectrum disorders (ASD) are characterized by abnormal neurodevelopment, genetic, and environmental risk factors, as well as immune dysfunctions. Several lines of evidence suggest alterations in innate immune responses in children with ASD. To address this question in adults with high-functioning ASD (hf-ASD), we sought to investigate the role of natural killer (NK) cells in the persistence of ASD. Methods NK cells from 35 adults with hf-ASD were compared to that of 35 healthy controls (HC), selected for the absence of any immune dysfunctions, at different time-points, and over a 2-year follow-up period for four patients. The phenotype and polyfunctional capacities of NK cells were explored according to infectious stigma and clinical parameters (IQ, social, and communication scores). Results As compared to HC, NK cells from patients with hf-ASD showed a high level of cell activation ( p  < 0.0001), spontaneous degranulation ( p  < 0.0001), and interferon-gamma production ( p  = 0.0004), whereas they were exhausted after in vitro stimulations ( p  = 0.0006). These data yielded a specific HLA-DR + KIR2DL1 + NKG2C + NK-cell signature. Significant overexpression of NKG2C in hf-ASD patients ( p  = 0.0005), indicative of viral infections, was inversely correlated with the NKp46 receptor level ( r  = − 0.67; p  < 0.0001), regardless of the IgG status of tested pathogens. Multivariate linear regression analysis also revealed that expression of the late-activating HLA-DR marker was both associated with structural language ( r  = 0.48; p  = 0.007) and social awareness ( r  = 0.60; p  = 0.0007) scores in adult patients with hf-ASD, while KIR2DL1 expression correlated with IQ scores ( p  = 0.0083). Conclusions This study demonstrates that adults with hf-ASD have specific NK-cell profile. Presence of NKG2C overexpression together with high-level activation of NK cells suggest an association with underlying pathogens, a hypothesis warranting further exploration in future studies.

(1) Background: Autism spectrum disorder (ASD) is a neurodevelopmental disorder that is highly associated with various somatic conditions that can be masked by the core symptoms of ASD and thus complicate the diagnosis. Identifying co-occurring somatic disorders is critical for providing effective healthcare and social services for ASD populations and influences their long-term outcomes. A systematic assessment of co-occurring somatic conditions is essential during this ASD diagnostic process. Therefore, this study aimed to identify the organization and content of the initial somatic assessment (ISA). (2) Methods: We conducted a systematic review of the clinical practice guidelines (CPG) for the ASD diagnostic process published between January 2005 and December 2019 in English and French and performed an appraisal following the Appraisal of Guidelines Research and Evaluation, second edition (AGREE-II). (3) Results: We selected 14 CPGs that were heterogeneous in quality, with methodological scores between 32.3 and 91.9. Clinical examinations are the first step in the ISA, and the participation of pediatric, neuropediatric, and genetic specialists was highly recommended by the majority of the CPGs. The recommendations included hearing screening tests (10/14), visual examinations (8/14), and systematic genetic investigations (4/14). The CPGs also described additional investigations that should be conducted based on numerous warning signs. (4) Conclusions: Screening for consensual international warning signs is necessary to perform a comprehensive and systematic ISA during the ASD diagnostic process. A “referral form” could be used to guide clinicians and improve the coordination process. This tool may reinforce epidemiological data on co-occurring somatic disorders in patients with ASD.

The school inclusion of students with autism is still a challenge. To address the cognitive underpinnings of school-related adaptive behaviors, 27 students with autism and 18 students with intellectual and/or severe learning disability, aged from 11 to 17, were recruited. They underwent socio-emotional processing and executive functioning assessments, as well as school-related adaptive behavior and quality of life measurements. Both groups performed equally on socio-emotional and executive assessments, and they reported the same low quality of life. However, students with autism exhibited more limitations than the students with intellectual disabilities on complex school adaptive behaviors (socialization and autonomy) and problem behaviors, but both groups performed equally on more basic adaptive behaviors (school routines, communication). Multiple regression analyses highlighted between-group differences in terms of adaptive functioning profiles, which were linked with different cognitive predictors according to students’ medical conditions. The greater school-related limitations of students with autism were mostly explained by socio-emotional performance, while IQ (intellectual quotient) mostly explained the comparable between-group limitations. The low quality of life of both groups was slightly explained by executive performance. The role of both socio-emotional and executive functioning in students’ adaptive behaviors and quality of life suggests remediation targets for promoting the school inclusion of students with autism.