1. Agote-Arán A, Lin J, Sumara I. Fragile X-Related Protein 1 Regulates Nucleoporin Localization in a Cell Cycle-Dependent Manner. Frontiers in cell and developmental biology. 2021; 9: 755847.

Nuclear pore complexes (NPCs) are embedded in the nuclear envelope (NE) where they ensure the transport of macromolecules between the nucleus and the cytoplasm. NPCs are built from nucleoporins (Nups) through a sequential assembly order taking place at two different stages during the cell cycle of mammalian cells: at the end of mitosis and during interphase. In addition, fragile X-related proteins (FXRPs) can interact with several cytoplasmic Nups and facilitate their localization to the NE during interphase likely through a microtubule-dependent mechanism. In the absence of FXRPs or microtubule-based transport, Nups aberrantly localize to the cytoplasm forming the so-called cytoplasmic nucleoporin granules (CNGs), compromising NPCs’ function on protein export. However, it remains unknown if Nup synthesis or degradation mechanisms are linked to the FXRP-Nup pathway and if and how the action of FXRPs on Nups is coordinated with the cell cycle progression. Here, we show that Nup localization defects observed in the absence of FXR1 are independent of active protein translation. CNGs are cleared in an autophagy- and proteasome-independent manner, and their presence is restricted to the early G1 phase of the cell cycle. Our results thus suggest that a pool of cytoplasmic Nups exists that contributes to the NPC assembly specifically during early G1 to ensure NPC homeostasis at a short transition from mitosis to the onset of interphase.

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2. Aranbarri A, Stahmer AC, Talbott MR, Miller ME, Drahota A, Pellecchia M, Barber AB, Griffith EM, Morgan EH, Rogers SJ. Examining US Public Early Intervention for Toddlers With Autism: Characterizing Services and Readiness for Evidence-Based Practice Implementation. Frontiers in psychiatry. 2021; 12: 786138.

As the rates of Autism Spectrum Disorder (ASD) increase and early screening efforts intensify, more toddlers with high likelihood of ASD are entering the United States’ (US’) publicly funded early intervention system. Early intervention service delivery for toddlers with ASD varies greatly based on state resources and regulations. Research recommends beginning ASD-specific evidence-based practices (EBP), especially caregiver-implemented intervention, as early as possible to facilitate the development of social-communication skills and general learning. Translating EBP into practice has been challenging, especially in low-resourced areas. The main goal of this study was to obtain a more comprehensive understanding of public early intervention system structure, service delivery practices, and factors influencing EBP use for children with ASD in the US. Participants (N = 133) included 8 early intervention state coordinators in 7 states, 29 agency administrators in those states, 57 early intervention providers from those agencies, and 39 caregivers of children with ASD receiving services from those providers. Online surveys gathered stakeholder and caregiver perspectives on early intervention services as well as organizational factors related to EBP implementation climate and culture. Stakeholders identified key intervention needs for young children with ASD. In general, both agency administrators and direct providers reported feeling somewhat effective or very effective in addressing most needs of children with ASD. They reported the most difficulty addressing eating, sleeping, family stress, and stereotyped behaviors. Data indicate that children from families with higher income received significantly higher service intensity. While administrators and providers reported high rates of high-quality caregiver coaching (>60%), caregivers reported low rates (23%). Direct providers with more favorable attitudes toward EBP had greater EBP use. In turn, provider attitudes toward EBP were significantly associated with implementation leadership and culture at their agency. Results suggest that publicly funded early intervention programs in the US require additional resources and training for providers and leaders to support improved implementation climate and attitudes toward ASD EBPs. Results also suggest that more state system support is needed to increase use of ASD-specific EBP use, including high-quality caregiver coaching, to better serve toddlers with ASD. Recommendations for implementation strategies are addressed.

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3. Azouz HG, Zakaria NHE, Khalil AF, Naguib SM, Khalil M. Gastrointestinal manifestations and their relation to faecal calprotectin in children with autism. Przeglad gastroenterologiczny. 2021; 16(4): 352-7.

INTRODUCTION: A common comorbidity in autism spectrum disorder (ASD) children is gastrointestinal problems, and a possible link between active gastrointestinal inflammation and autism has been suggested. Faecal calprotectin (FC) is a non-invasive marker for of gastrointestinal inflammation. AIM: To study the level of FC as a marker of bowel inflammation in children with ASD and its possible relation to gastrointestinal manifestations. MATERIAL AND METHODS: Calprotectin levels were assessed in stool samples of 40 ASD children. Autism severity was assessed by the Childhood Autism Rating Scale (CARS). Severity of gastrointestinal symptoms was assessed using a modified version of the 6-Item Gastrointestinal Severity Index (6-GSI) questionnaire. A control group of 40 healthy children matched for age and sex with the cases was also included to compare their levels of FC. RESULTS: Gastrointestinal symptoms were present in 82.5% of children with autism; the most reported offensive stool odour (70%) and the least diarrhoea (17.5%), and a high 6-GSI score was observed in 35% of ASD children. FC levels were elevated in 35% of the cases and in 25% of the control group. The mean levels of FC of cases were significantly elevated compared to levels of controls. FC levels positively correlated with severity of gastrointestinal symptoms (6-GSI) in autistic patients. There was positive correlation between CARS and 6-GSI. CONCLUSIONS: Gastrointestinal manifestations are a common comorbidity in autistic patients. ASD patients have significantly higher FC levels than healthy controls. FC levels are strongly correlated with the severity of gastrointestinal manifestations in ASD children. So, gastrointestinal manifestations among autistic patients could be caused by gastrointestinal inflammation.

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4. Blanc R, Latinus M, Guidotti M, Adrien JL, Roux S, Dansart P, Barthélémy C, Rambault A, Bonnet-Brilhault F, Malvy J. Early Intervention in Severe Autism: Positive Outcome Using Exchange and Development Therapy. Frontiers in pediatrics. 2021; 9: 785762.

Early intervention programs positively affect key behaviors for children with autism spectrum disorder (ASD). However, most of these programs do not target children with severe autistic symptomatology associated with intellectual disability (ID). This study aimed to investigate the psychological and clinical outcomes of children with severe autism and ID enrolled in the Tailored and Inclusive Program for Autism-Tours (TIPA-T). The first step of the TIPA-T is the Exchange and Development Therapy (EDT): an individual neurofunctional intervention consisting of one-to-one exchanges between a child and a therapist taking place in a pared-down environment. It aims to rehabilitate psychophysiological abilities at the roots of social communication through structured sequences of « social play. » Cognitive and socio-emotional skills and general development were evaluated with the Social Cognitive Evaluation Battery scale and the Brunet-Lézine Scale-Revised, respectively, before and after 9 months of intervention in 32 children with ASD and ID. Autistic symptomatology was evaluated with the Behavior Summarized Evaluation-Revised scale at five time-points in a subset of 14 children, both in individual and group settings. Statistically significant post-intervention improvements were found in cognitive and socio-emotional skills. All but one child showed improvements in at least one social domain, and 78% of children gained one level in at least four social domains. Twenty-nine children improved in cognitive domains, with 66% of children improving in at least three cognitive domains. Autistic symptomatology evaluated in one-to-one settings significantly decreased with therapy; this reduction was observed in more than 85% of children. In group settings, autistic symptomatology also decreased in more than 60% of children. Global developmental age significantly increased by 3.8 months. The TIPA-T, including EDT in particular, improves socio-emotional skills of most children with ASD and reduces autistic symptomatology, yet with heterogeneous outcomes profiles, in line with the strong heterogeneity of profiles observed in ASD. At the group level, this study highlights the benefits of the TIPA-T for children with severe autism and associated ID. Assessment of autistic core symptoms showed an improvement of social interaction, both in one-to-one and group evaluations, demonstrating the generalizability of the skills learned during the EDT.

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5. Chen Z, Shi K, Liu X, Dai Y, Liu Y, Zhang L, Du X, Zhu T, Yu J, Fang S, Li F. Gut Microbial Profile Is Associated With the Severity of Social Impairment and IQ Performance in Children With Autism Spectrum Disorder. Frontiers in psychiatry. 2021; 12: 789864.

Background and Objective: Autism spectrum disorder (ASD) refers to a heterogeneous set of neurodevelopmental disorders with diverse symptom severity and comorbidities. Although alterations in gut microbiota have been reported in individuals with ASD, it remains unclear whether certain microbial pattern is linked to specific symptom or comorbidity in ASD. We aimed to investigate the associations between gut microbiota and the severity of social impairment and cognitive functioning in children with ASD. Methods: A total of 261 age-matched children, including 138 children diagnosed with ASD, 63 with developmental delay or intellectual disability (DD/ID), and 60 typically developing (TD) children, were enrolled from the Shanghai Xinhua Registry. The children with ASD were further classified into two subgroups: 76 children diagnosed with ASD and developmental disorder (ASD+DD) and 62 with ASD only (ASD-only). The gut microbiome of all children was profiled and evaluated by 16S ribosomal RNA sequencing. Results: The gut microbial analyses demonstrated an altered microbial community structure in children with ASD. The alpha diversity indices of the ASD+DD and ASD-only subgroups were significantly lower than the DD/ID or TD groups. At the genus level, we observed a decrease in the relative abundance of Prevotella. Simultaneously, Bacteroides and Faecalibacterium were significantly increased in ASD compared with DD/ID and TD participants. There was a clear correlation between alpha diversity and the Childhood Autism Rating Scale (CARS) total score for all participants, and this correlation was independent of IQ performance. Similar correlations with the CARS total score were observed for genera Bacteroides, Faecalibacterium, and Oscillospira. However, there was no single genus significantly associated with IQ in all participants. Conclusions: Specific alterations in bacterial taxonomic composition and associations with the severity of social impairment and IQ performance were observed in children with ASD or ASD subgroups, when compared with DD/ID or TD groups. These results illustrate that gut microbiota may serve as a promising biomarker for ASD symptoms. Nevertheless, further investigations are warranted.

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6. Cheng X, Li Y, Cui X, Cheng H, Li C, Fu L, Jiang J, Hu Z, Ke X. Atypical Neural Responses of Cognitive Flexibility in Parents of Children With Autism Spectrum Disorder. Frontiers in neuroscience. 2021; 15: 747273.

Impaired cognitive flexibility has been repeatedly demonstrated in autism spectrum disorder (ASD). There is strong evidence for genetic involvement in ASD. First-degree relatives of individuals with ASD may show mild deficits in cognitive inflexibility. The present study investigated cognitive flexibility and its neuroelectrophysiological mechanisms in first-degree relatives of individuals with ASD to assess its potential familiality. Forty-five biological parents of individuals/children with ASD (pASD) and thirty-one biological parents of typically developing individuals/children (pTD), matched by gender, age, and IQ, were enrolled. The broad autism phenotype questionnaire (BAPQ) and cognitive flexibility inventory (CFI) were used to quantitatively assess autistic traits and cognitive flexibility in daily life, respectively. The task-switching paradigm was used to evaluate the behavioral flexibility in a structured assessment situation. Event-related potentials (ERPs) induced by this paradigm were also collected. Results showed that compared with the pTD group, the pASD group had lower CFI scores (t = -2.756, p < 0.01), while both groups showed an equivalent "switch cost" in the task-switching task (p > 0.05). Compared with the pTD group, the pASD group induced greater N2 amplitude at F3, F4, Fz, and C4 (F = 3.223, p < 0.05), while P3 amplitude and latency did not differ between the two groups. In addition, there was a significant negative correlation between the CFI total scores and BAPQ total scores in the pASD group (r = -0.734, p < 0.01). After controlling for age and IQ, the N2 amplitude in the frontal lobe of pASD was negatively correlated with the CFI total scores under the repetition sequence (r = -0.304, p = 0.053). These results indicated that pASD had deficit in cognitive flexibility at the self-reported and neurological levels. The cognitive flexibility difficulties of parents of children with ASD were related to autistic traits. These findings support that cognitive flexibility is most likely a neurocognitive endophenotype of ASD, which is worthy of further investigation.

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7. Dingemans AE, Volkmer SA, Mulkens S, Vuijk R, van Rood YR. The obsessive-compulsive spectrum: A network analysis. Psychiatry research. 2022; 308: 114351.

Several studies have shown that obsessive-compulsive disorder (OCD), eating disorders (ED), autism spectrum disorders (ASD) and body dysmorphic disorder (BDD) share obsessive-compulsive (OC) symptoms and often co-occur, which could be seen as indicative of a common etiological basis. In addition, they also appear to have similarities in executive functioning. The present study investigated disorder-specific symptoms and executive functioning as a possible joint factor in individuals with OCD (n=53), BDD (n=95), ED (n=171) and ASD (n=73), and in healthy controls (n=110). The participants completed online questionnaires measuring OCD, ED, ASD and BDD related symptoms as well as executive functioning. The clinical groups were first compared to the healthy controls. Subsequently, a network analysis was performed only with the OC-groups. This network approach assumes that psychopathological disorders are the result of causal symptom interactions. As expected, the healthy controls reported less severe symptoms compared to the OC patient groups. The network analysis suggested that the executive functioning skill set shifting/attention switching and the ASD symptoms, social and communication skills were the most central nodes in the model. Difficulty with cognitive flexibility and social factors are central in OC-spectrum disorders and may be perpetuating factors and thus a relevant focus of treatment.

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8. Huang Y, Hwang YIJ, Arnold SRC, Lawson LP, Richdale AL, Trollor JN. Autistic Adults’ Experiences of Diagnosis Disclosure. Journal of autism and developmental disorders. 2022.

As autism is an invisible and often stigmatised condition, disclosing the diagnosis may lead to both support and/or discrimination. This mixed-methods questionnaire study examined autistic adults’ experiences of disclosure in various contexts. The sample consisted of 393 participants aged 17-83 years from two longitudinal surveys. Almost all participants disclosed their diagnosis to someone, most commonly to friends. A significant minority of participants studying and/or working at the time had not disclosed to their education provider/employer. Content analysis of open-ended responses showed participants desired to gain understanding and support from disclosure but feared prejudice. While some received support, others encountered dismissiveness and misunderstanding. Findings highlight the need to improve autism understanding and reduce stigma within and beyond educational and employment contexts.

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9. Liu S, Ge F, Zhao L, Wang T, Ni D, Liu T. NAS-optimized topology-preserving transfer learning for differentiating cortical folding patterns. Medical image analysis. 2022; 77: 102316.

Increasing evidence suggests that cortical folding patterns of human cerebral cortex manifest overt structural and functional differences. However, for interpretability, few studies leverage advanced techniques (e.g., deep learning) to investigate the difference among cortical folds, resulting in more differences yet to be extensively explored. To this end, we proposed an effective topology-preserving transfer learning framework to differentiate cortical fMRI time series extracted from cortical folds. Our framework consists of three main parts: (1) Neural architecture search (NAS), which is used to devise a well-performing network structure based on an initialized hand-designed super-graph in an image dataset; (2) Topology-preserving transfer, which takes the model searched by NAS as the source network, keeping the topological connectivity in the network unchanged, while transforming all 2D operations including convolution and pooling into 1D, therefore resulting in a topology-preserving network, named TPNAS-Net; (3) Classification and correlation analysis, which involves using the TPNAS-Net to classify 1D cortical fMRI time series for each individual brain, and performing a group difference analysis between autism spectrum disorder (ASD) and healthy control (HC) and correlation analysis with clinical information (i.e., age). Extensive experiments on two ASD datasets obtain consistent results, demonstrating that the TPNAS-Net not only discriminates cortical folding patterns at high classification accuracy, but also captures subtle differences between ASD and HC (p-value = 0.042). In addition, we discover that there is a positive correlation between the classification accuracy and age in ASD (r = 0.39, p-value = 0.04). These findings together suggest that structural and functional differences in cortical folding patterns between ASD and HC may provide a potentially useful biomarker for the diagnosis of ASD.

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10. Neal CN, Brady NC, Fleming KK. Narrative Analysis in Adolescents With Fragile X Syndrome. American journal on intellectual and developmental disabilities. 2022; 127(1): 11-28.

This study analyzed narratives of male and female adolescents with fragile X syndrome (FXS). The impact of structural language, cognition and autism symptomatology on narrative skills and the association between narratives and literacy were examined. Narratives from 32 adolescents with FXS (24 males, 8 females) were analyzed for macrostructure. Relationships between narrative macrostructure, language scores, cognitive scores, Childhood Autism Rating Scale-Second Edition scores and literacy skills were examined. Males produced more simplistic narratives, whereas the females’ narratives were more complex. Language scores predicted narrative scores above and beyond nonverbal cognitive skills and autism symptomatology. Narrative scores correlated with literacy scores. Narrative skills in FXS are predicted by language skills and are correlated with literacy skills. Investigation into narrative interventions in FXS is needed.

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11. Odom SL, Sam AM, Tomaszewski B, Cox AW. Quality of Educational Programs for Elementary School-Age Students With Autism. American journal on intellectual and developmental disabilities. 2022; 127(1): 29-41.

The purpose of this study was to assess the quality of educational programs for school-aged children with autism in the United States. Investigators completed the Autism Program Environment Quality Rating Systems-Preschool/Elementary (APERS-PE) in 60 elementary schools enrolling children with autism. The mean total rating scores were near the midpoint rating, indicating schools were providing educational program environments classified as adequate but not of high quality. Domains of the APERS-PE reflecting structural quality tended to be significantly above average and domains reflecting process quality tended to be significantly below average. With a few exceptions, inclusive and special education program did not differ significantly in total program quality ratings and reflected the same pattern of domain quality ratings.

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12. Özgen MH, van den Brink W. [Ketamine self-medication in a patient with autism spectrum disorder and comorbid treatment-resistant depression]. Tijdschrift voor psychiatrie. 2021; 63(12): 890-4.

We saw a 60-year-old male veterinarian with a history of autism spectrum disorder, major depressive disorder, and suicidality. He had been treated with more than 15 psychotropic medications, was admitted to inpatient care several times, and attempted suicide once. His current complaints included a decline in social functioning, repetitive behaviour, sensory hypersensitivity, anxiety, low mood, anhedonia, lack of energy, and chronic suicidality. His last medication consisted of risperidone and valproic acid. Despite intensive treatment, he remained impaired by his complaints and could not return to work. After self-medication with ketamine, he reported that his depressive and suicidal complaints disappeared and that his autism-related complaints diminished. This case – together with previous clinical research – suggests that ketamine is likely to be effective against depression and suicidality, that ketamine is potentially effective against autism-related symptoms, and that increasing awareness of the beneficial effects of ketamine can lead to unsupervised, and therefore risky, use of ketamine as a form of self-medication.

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13. Pacheco J, Garvey MA, Sarampote CS, Cohen ED, Murphy ER, Friedman-Hill SR. Annual Research Review: The contributions of the RDoC research framework on understanding the neurodevelopmental origins, progression and treatment of mental illnesses. Journal of child psychology and psychiatry, and allied disciplines. 2022; 63(4): 360-76.

The National Institute of Mental Health (NIMH) proposed the Research Domain Criteria (RDoC) initiative as an alternate way to organize research of mental illnesses, by looking at dimensions of functioning rather than being tied to categorical diagnoses. This paper briefly discusses the motivation for and organization of RDoC, and then explores the NIMH portfolio and recent work to monitor the utility and progress that RDoC has afforded developmental research. To examine how RDoC has influenced the NIMH developmental research portfolio over the last decade, we employed a natural language processing algorithm to identify the number of developmental science grants classified as incorporating an RDoC approach. Additional portfolio analyses examine temporal trends in funded RDoC-relevant grants, publications and citations, and research training opportunities. Reflecting on how RDoC has influenced the focus of grant applications, we highlight examples from research on Attention-Deficit Hyperactivity Disorder (ADHD), childhood irritability, and Autism Spectrum Disorder (ASD). Lastly, we consider how the dimensional and transdiagnostic approaches emphasized in RDoC have facilitated research on personalized intervention for heterogeneous disorders and preventive/early interventions targeting emergent or subthreshold psychopathology.

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14. Rivera-Figueroa K, Marfo NYA, Eigsti IM. Parental Perceptions of Autism Spectrum Disorder in Latinx and Black Sociocultural Contexts: A Systematic Review. American journal on intellectual and developmental disabilities. 2022; 127(1): 42-63.

Parents of children with autism spectrum disorder (ASD) face challenges in accessing diagnostic and treatment services; these challenges vary by race, ethnicity, and culture. This systematic review examines parental perceptions of ASD within Latinx and Black American communities. Findings indicate that interconnections with family and religious groups promoted positive coping and describe positive impacts of having a child with ASD. Relative to White families, community members reported reduced access to information and more inaccurate beliefs about ASD, higher levels of ASD-related stigma, and more negative experiences with healthcare providers, which serve to exacerbate healthcare disparities. Conclusions are limited by an underrepresentation of minority groups in research. We call for efforts to address the specific needs of racial and ethnic minorities.

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15. Roberts TPL, Bloy L, Liu S, Ku M, Blaskey L, Jackel C. Magnetoencephalography Studies of the Envelope Following Response During Amplitude-Modulated Sweeps: Diminished Phase Synchrony in Autism Spectrum Disorder. Frontiers in human neuroscience. 2021; 15: 787229.

Prevailing theories of the neural basis of at least a subset of individuals with autism spectrum disorder (ASD) include an imbalance of excitatory and inhibitory neurotransmission. These circuitry imbalances are commonly probed in adults using auditory steady-state responses (ASSR, driven at 40 Hz) to elicit coherent electrophysiological responses (EEG/MEG) from intact circuitry. Challenges to the ASSR methodology occur during development, where the optimal ASSR driving frequency may be unknown. An alternative approach (more agnostic to driving frequency) is the amplitude-modulated (AM) sweep in which the amplitude of a tone (with carrier frequency 500 Hz) is modulated as a sweep from 10 to 100 Hz over the course of ∼15 s. Phase synchrony of evoked responses, measured via intra-trial coherence, is recorded (by EEG or MEG) as a function of frequency. We applied such AM sweep stimuli bilaterally to 40 typically developing and 80 children with ASD, aged 6-18 years. Diagnoses were confirmed by DSM-5 criteria as well as autism diagnostic observation schedule (ADOS) observational assessment. Stimuli were presented binaurally during MEG recording and consisted of 20 AM swept stimuli (500 Hz carrier; sweep 10-100 Hz up and down) with a duration of ∼30 s each. Peak intra-trial coherence values and peak response frequencies of source modeled responses (auditory cortex) were examined. First, the phase synchrony or inter-trial coherence (ITC) of the ASSR is diminished in ASD; second, hemispheric bias in the ASSR, observed in typical development (TD), is maintained in ASD, and third, that the frequency at which the peak response is obtained varies on an individual basis, in part dependent on age, and with altered developmental trajectories in ASD vs. TD. Finally, there appears an association between auditory steady-state phase synchrony (taken as a proxy of neuronal circuitry integrity) and clinical assessment of language ability/impairment. We concluded that (1) the AM sweep stimulus provides a mechanism for probing ASSR in an unbiased fashion, during developmental maturation of peak response frequency, (2) peak frequencies vary, in part due to developmental age, and importantly, (3) ITC at this peak frequency is diminished in ASD, with the degree of ITC disturbance related to clinically assessed language impairment.

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16. Rodriguez NM, Aragon MA, McKeown CA, Glodowski KR. Facilitating the emergence of intraverbal tacts in children with autism spectrum disorder: A preliminary analysis. Journal of applied behavior analysis. 2022; 55(2): 412-29.

Intraverbal tacts are an example of multiply controlled verbal behavior. More specifically, they are verbal responses under control of both a nonverbal (visual) stimulus (e.g., a green ball) and a verbal (auditory) stimulus (e.g., « What color? » vs. « What shape? »). Studies have shown that verbal behavior training can be arranged in a way that would lead to the emergence of other verbal operants, including multiply controlled (convergent) intraverbals. Our study sought to evaluate the relevance of a specific set of component skills on the emergence of intraverbal tacts in children with an autism spectrum disorder. Intraverbal tacts were observed only when all component skills were mastered, suggesting that this set of skills was sufficient to produce emergent verbal performance. Preliminary data were obtained on the necessity of 4 of the 6 component skills and tentatively suggest that they may be necessary to produce emergent intraverbal tacts, at least under some conditions.

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17. Thurman AJ, Swinehart SS, Klusek J, Roberts JE, Bullard L, Marzan JCB, Brown WT, Abbeduto L. Daily Living Skills in Adolescent and Young Adult Males With Fragile X Syndrome. American journal on intellectual and developmental disabilities. 2022; 127(1): 64-83.

By adulthood, most males with fragile X syndrome (FXS) require support to navigate day-to-day settings. The present study cross-sectionally: (1) characterized the profile of daily living skills in males with FXS and (2) examined associated participant characteristics (i.e., fragile X mental retardation protein [FMRP] expression, nonverbal cognition, language, autism symptomatology, and anxiety symptomatology) using the Waisman-Activities of Daily Living questionnaire. Males with FXS (n = 57, ages 15-23 years) needed more help/support in the areas of domestic and community daily livings skills, than in the area of personal daily living skills. Significant associations were observed between reduced daily living skills and lower nonverbal cognition, receptive language, expressive language, and increased autism symptomatology. Receptive language emerged as the strongest unique predictor of daily living skill performance.

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18. Trimarco E, Mirino P, Caligiore D. Cortico-Cerebellar Hyper-Connections and Reduced Purkinje Cells Behind Abnormal Eyeblink Conditioning in a Computational Model of Autism Spectrum Disorder. Frontiers in systems neuroscience. 2021; 15: 666649.

Empirical evidence suggests that children with autism spectrum disorder (ASD) show abnormal behavior during delay eyeblink conditioning. They show a higher conditioned response learning rate and earlier peak latency of the conditioned response signal. The neuronal mechanisms underlying this autistic behavioral phenotype are still unclear. Here, we use a physiologically constrained spiking neuron model of the cerebellar-cortical system to investigate which features are critical to explaining atypical learning in ASD. Significantly, the computer simulations run with the model suggest that the higher conditioned responses learning rate mainly depends on the reduced number of Purkinje cells. In contrast, the earlier peak latency mainly depends on the hyper-connections of the cerebellum with sensory and motor cortex. Notably, the model has been validated by reproducing the behavioral data collected from studies with real children. Overall, this article is a starting point to understanding the link between the behavioral and neurobiological basis in ASD learning. At the end of the paper, we discuss how this knowledge could be critical for devising new treatments.

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19. Vilas SP, Reniers R, Ludlow AK. An Investigation of Behavioural and Self-Reported Cognitive Empathy Deficits in Adolescents With Autism Spectrum Disorders and Adolescents With Behavioural Difficulties. Frontiers in psychiatry. 2021; 12: 717877.

Deficits in empathy have been considered hallmarks in individuals with autism spectrum disorders (ASD) but are also considered to underlie antisocial behaviour associated with individuals with callous unemotional traits (CU). Research has suggested that individuals with autism spectrum disorders show more difficulties with cognitive empathy, and that individuals diagnosed with behaviours difficulties, characterised by CU traits and antisocial behaviour, demonstrate low affective empathy. In the current manuscript we present findings of two studies. The first study describes the validation of a new stimulus set developed for the empathic accuracy task, focused on its cognitive component. The second study compares the performance of 27 adolescents with ASD, 27 age matched typically developing adolescents and 17 adolescents with behavioural difficulties on the empathic accuracy task and a self-report measure of empathy. While, no differences were observed between the three groups across the empathy accuracy task, the adolescents with ASD and CD showed deficits in their cognitive empathy across the self-report measure. Adolescents with ASD showed lower scores in particularly their perspective taking abilities, whereas the adolescences with behavioural difficulties showed more difficulties with their online simulation. No differences in self-reported affective empathy across the three groups were observed. Clinical implications of the findings are discussed.

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20. Whiteley P, Marlow B, Kapoor RR, Blagojevic-Stokic N, Sala R. Autoimmune Encephalitis and Autism Spectrum Disorder. Frontiers in psychiatry. 2021; 12: 775017.

The concept of « acquired autism » refers to the hypothesis that amongst the massive heterogeneity that encompasses autism spectrum disorder (ASD) there may be several phenotypes that are neither syndromic nor innate. Strong and consistent evidence has linked exposure to various pharmacological and infective agents with an elevated risk of a diagnosis of ASD including maternal valproate use, rubella and herpes encephalitis. Autoimmune encephalitis (AE) describes a group of conditions characterised by the body’s immune system mounting an attack on healthy brain cells causing brain inflammation. The resultant cognitive, psychiatric and neurological symptoms that follow AE have also included ASD or autism-like traits and states. We review the current literature on AE and ASD. Drawing also on associated literature on autoimmune psychosis (AP) and preliminary evidence of a psychosis-linked subtype of ASD, we conclude that AE may either act as a potentially causative agent for ASD, and/or produce symptoms that could easily be mistaken for or misdiagnosed as autism. Further studies are required to discern the connection between AE and autism. Where autism is accompanied by regression and atypical onset patterns, it may be prudent to investigate whether a differential diagnosis of AE would be more appropriate.

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21. Yao Y, Uddin MN, Manley K, Lawrence DA. Constitutive activation of Notch signalling and T cell activation characterize a mouse model of autism. Cell biochemistry and function. 2022; 40(2): 150-62.

Gene and protein expression of BTBR T(+) Itpr3(tf) /J (BTBR) mice with autistic-like behaviours were compared with the C57BL/6J strain, which is considered to have normal immunity and behaviour. Notch signalling pathway was constitutively activated in the immune system and liver of BTBR T(+) Itpr3(tf) /J (BTBR) mice. Notch ligand 4 (Dll4), Notch receptors (Notch1 Notch2 and Notch3) and recombination signal binding protein for immunoglobulin κ j region (RBPJ) were increased both at gene and protein levels in BTBR spleens and thymi. Notch downstream transcriptional factors, Tbx21, Gata3, Rorc and FoxP3 were increased in BTBR spleens, Gata3 and FoxP3 were increased in BTBR thymi and BTBR mice have a high blood CD4/CD8 T cell ratio. Reduced nucleotide excision repair ability in BTBR spleens was associated with increased 8-oxoguanine, Ogg1 inhibition, an enhanced level of apoptotic thymocytes and higher expression of GATA-3. Ogg1 inhibition and enhanced GATA-3 expression also were detected in BTBR brain. Notch signal promoted mitochondrial dynamics switching to enhanced fission with an increased number and mass of mitochondria in immune cells of BTBR mice, but not in livers and brains. Constitutive influences on mitochondria exist in this mouse model of autism spectrum disorder; similar outcomes from environmental exposures might occur perinatally in susceptible individuals to affect the development of autism.

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22. Zane E, Arunachalam S, Luyster R. Personal Pronoun Errors in Form versus Meaning Produced by Children with and without Autism Spectrum Disorder. Journal of cultural cognitive science. 2021; 5(3): 389-404.

The current study investigates whether the types of pronominal errors children with autism spectrum disorder (ASD) make are different from those of their TD peers at similar stages of language development. A recent review about language acquisition in ASD argues that these children show relative deficits in assigning/extending lexical meaning alongside relative strengths in morpho-syntax (Naigles & Tek, 2017). Pronouns provide an ideal test case for this argument because they are marked both for grammatical features (case) and features that reflect qualities of the referent itself (gender and number) or the referent’s role in conversation (person). The form-meaning hypothesis predicts that children with ASD should struggle more with these latter features. The current study tests this hypothesis with data from a caregiver report, completed by caregivers of 151 children with and without ASD. Reported pronominal errors were categorized as meaning or form and compared across groups. In accordance with the form-meaning hypothesis, a higher proportion of children with ASD make meaning errors than they do form errors, and significantly more of them make meaning errors than TD children do.

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