1. Amestoy A, Guillaud E, Bucchioni G, Zalla T, Umbricht D, Chatham C, Murtagh L, Houenou J, Delorme R, Moal ML, Leboyer M, Bouvard M, Cazalets JR. Visual attention and inhibitory control in children, teenagers and adults with autism without intellectual disability: results of oculomotor tasks from a 2-year longitudinal follow-up study (InFoR). Molecular autism. 2021; 12(1): 71.

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.

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2. De Pol M, Kolla NJ. Endocannabinoid markers in autism spectrum disorder: A scoping review of human studies. Psychiatry research. 2021; 306: 114256.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by social communication deficits and patterns of restrictive and repetitive behavior. Although the neurological underpinnings of ASD remain elusive, the endocannabinoid system (ECS) may play a role in modulating social behavior in ASD. Preclinical studies have suggested that alterations in the ECS result in ASD-like phenotypes, but currently no reviews have examined ECS abnormalities in human studies. This scoping review investigated any evidence of ECS alterations in humans with ASD. A comprehensive literature search was conducted and five studies were eligible for review. Three studies reported a significant reduction of anandamide in ASD compared to controls. Other alterations included decreased 2-arachidonoylglycerol, oleoylethanolamide, and palmitoylethanolamide and elevated diacylglycerol lipase and monoacylglycerol lipase. Some discrepant findings were also noted, which included elevated or reduced CB2 receptor in three studies and elevated or reduced N-acyl phosphatidylethanolamine phospholipase D and fatty acid amide hydrolase in two studies. We conclude from this preliminary investigation that the ECS may be altered in humans with ASD. Potential limitations of the reviewed studies include medication use and psychiatric comorbidities. Further research, such as positron emission tomography studies, are necessary to fully understand the relationship between ECS markers and ASD.

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3. Didden R, Mevissen L. Trauma in individuals with intellectual and developmental disabilities: Introduction to the Special Issue. Research in developmental disabilities. 2022; 120: 104122.

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4. Kelley KW, Pașca SP. Human brain organogenesis: Toward a cellular understanding of development and disease. Cell. 2022; 185(1): 42-61.

The construction of the human nervous system is a distinctly complex although highly regulated process. Human tissue inaccessibility has impeded a molecular understanding of the developmental specializations from which our unique cognitive capacities arise. A confluence of recent technological advances in genomics and stem cell-based tissue modeling is laying the foundation for a new understanding of human neural development and dysfunction in neuropsychiatric disease. Here, we review recent progress on uncovering the cellular and molecular principles of human brain organogenesis in vivo as well as using organoids and assembloids in vitro to model features of human evolution and disease.

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5. Nudel R, Appadurai V, Buil A, Nordentoft M, Werge T. Pleiotropy between language impairment and broader behavioral disorders-an investigation of both common and rare genetic variants. Journal of neurodevelopmental disorders. 2021; 13(1): 54.

BACKGROUND: Language plays a major role in human behavior. For this reason, neurodevelopmental and psychiatric disorders in which linguistic ability is impaired could have a big impact on the individual’s social interaction and general wellbeing. Such disorders tend to have a strong genetic component, but most past studies examined mostly the linguistic overlaps across these disorders; investigations into their genetic overlaps are limited. The aim of this study was to assess the potential genetic overlap between language impairment and broader behavioral disorders employing methods capturing both common and rare genetic variants. METHODS: We employ polygenic risk scores (PRS) trained on specific language impairment (SLI) to evaluate genetic overlap across several disorders in a large case-cohort sample comprising ~13,000 autism spectrum disorder (ASD) cases, including cases of childhood autism and Asperger’s syndrome, ~15,000 attention deficit/hyperactivity disorder (ADHD) cases, ~3000 schizophrenia cases, and ~21,000 population controls. We also examine rare variants in SLI/language-related genes in a subset of the sample that was exome-sequenced using the SKAT-O method. RESULTS: We find that there is little evidence for genetic overlap between SLI and ADHD, schizophrenia, and ASD, the latter being in line with results of linguistic analyses in past studies. However, we observe a small, significant genetic overlap between SLI and childhood autism specifically, which we do not observe for SLI and Asperger’s syndrome. Moreover, we observe that childhood autism cases have significantly higher SLI-trained PRS compared to Asperger’s syndrome cases; these results correspond well to the linguistic profiles of both disorders. Our rare variant analyses provide suggestive evidence of association for specific genes with ASD, childhood autism, and schizophrenia. CONCLUSIONS: Our study provides, for the first time, to our knowledge, genetic evidence for ASD subtypes based on risk variants for language impairment.

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6. Putnick DL, Bell EM, Ghassabian A, Robinson SL, Sundaram R, Yeung E. Feeding Problems as an Indicator of Developmental Delay in Early Childhood. The Journal of pediatrics. 2022; 242: 184-91.e5.

OBJECTIVE: To determine whether feeding problems are indicators of developmental delay. STUDY DESIGN: In this prospective longitudinal cohort study, mothers of 3597 children (49% female, 35% multiples) reported on their children’s feeding problems and developmental delays (using the Ages and Stages Questionnaire [ASQ]) when children were age 18, 24, and 30 months. Average scores of feeding problems were computed at each age, as well as a categorical score indicating a persistently high number of feeding problems ≥90th percentile across time. The Battelle Developmental Inventory, Second Edition (BDI-2) was used to assess development in 5 domains for a subset of children at 4 years. RESULTS: In adjusted analyses, feeding problems (per point increase) were increasingly associated with 6 ASQ domains from 18 months (OR, 1.30-1.98) to 24 months (OR, 2.07-2.69) to 30 months (OR, 3.90-5.64). Compared with children who never experienced feeding problems, children who experienced a high number of feeding problems at 1 or 2 time points were more than twice as likely to have a delay on all ASQ domains (OR, 2.10-2.50), and children who experienced a high number of feeding problems at all 3 time points were ≥4-fold more likely to have a delay on all ASQ domains (OR, 3.94-5.05). Children with 1-point higher feeding problems at 30 months scored 3-4 points lower in all BDI-2 domains at 4 years. CONCLUSIONS: Frequent feeding problems, especially those that persist into the third year, could be used to identify children at risk for developmental delay for more targeted screening.

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7. Sahuquillo-Leal R, Navalón P, Moreno-Giménez A, Almansa B, Vento M, García-Blanco A. Attentional biases towards emotional scenes in autism spectrum condition: An eye-tracking study. Research in developmental disabilities. 2022; 120: 104124.

BACKGROUND: Different attentional processing of emotional information may underlie social impairments in Autism Spectrum Condition (ASC). It has been hypothesized that individuals with ASC show hypersensitivity to threat, which may be related to an avoidance behaviour. However, research on the attentional processing of emotional information in autism is inconclusive. AIM: To examine the attentional processing biases of 27 children with ASC and 25 typically developed (TD) participants. METHODS AND PROCEDURES: The initial orienting of attention, the attentional engagement, and the attentional maintenance to complex emotional scenes in competition (happy, neutral, threatening, sad) were assessed in a 20-second eye-tracking based free-viewing task. OUTCOMES AND RESULTS: i) children with ASC showed an initial orienting bias towards threatening stimuli; ii) TD children demonstrated an attentional engagement and maintenance bias towards threat, while children with ASC did not; and iii) in children with ASC, attentional problems and somatic complaints were associated with higher initial orienting and with higher attentional maintenance towards threat, respectively. CONCLUSIONS AND IMPLICATIONS: These results suggest that a perceived threat induces an early overwhelming response in autism, giving rise to an avoidance behaviour. The findings endorse affective information processing theories and shed light on the mechanisms underlying social disturbances in ASC.

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8. Tarasi L, Trajkovic J, Diciotti S, di Pellegrino G, Ferri F, Ursino M, Romei V. Predictive waves in the autism-schizophrenia continuum: A novel biobehavioral model. Neuroscience and biobehavioral reviews. 2022; 132: 1-22.

The brain is a predictive machine. Converging data suggests a diametric predictive strategy from autism spectrum disorders (ASD) to schizophrenic spectrum disorders (SSD). Whereas perceptual inference in ASD is rigidly shaped by incoming sensory information, the SSD population is prone to overestimate the precision of their priors’ models. Growing evidence considers brain oscillations pivotal biomarkers to understand how top-down predictions integrate bottom-up input. Starting from the conceptualization of ASD and SSD as oscillopathies, we introduce an integrated perspective that ascribes the maladjustments of the predictive mechanism to dysregulation of neural synchronization. According to this proposal, disturbances in the oscillatory profile do not allow the appropriate trade-off between descending predictive signal, overweighted in SSD, and ascending prediction errors, overweighted in ASD. These opposing imbalances both result in an ill-adapted reaction to external challenges. This approach offers a neuro-computational model capable of linking predictive coding theories with electrophysiological findings, aiming to increase knowledge on the neuronal foundations of the two spectra features and stimulate hypothesis-driven rehabilitation/research perspectives.

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