1. Aishworiya R, Tak YE, Ponzini MD, Biag HMB, Salcedo-Arellano MJ, Kim K, Tassone F, Schneider A, Thurman AJ, Abbeduto L, Hessl D, Randol JL, Bolduc FV, Lippe S, Hagerman P, Hagerman R. Adaptive, behavioral, and cognitive outcomes in individuals with fragile X syndrome with varying autism severity. International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience. 2023.

This study aimed to determine the association between severity of autism spectrum disorder (ASD) and cognitive, behavioral, and molecular measures in individuals with fragile X syndrome (FXS). Study inclusion criteria included individuals with FXS and (1) age 6-40 years, (2) full-scale IQ < 84, and (3) language ≥3-word phrases. ASD symptom severity was determined by Autism Diagnostic Observation Schedule-2 (ADOS-2). Other measures identified non-verbal IQ, adaptive skills, and aberrant behaviors. Molecular measures included blood FMR1 and CYFIP1 mRNA levels, FMRP and MMP9 levels. Analysis of variance (ANOVA) and Spearman's correlations were used to compare ASD severity groups. Data from 54 individuals was included with no/mild (N = 7), moderate (N = 18), and severe (N = 29) ASD. Individuals with high ASD severity had lower adaptive behavior scores (47.48 ± 17.49) than the no/mild group (69.00 ± 20.45, p = 0.0366); they also had more challenging behaviors, lethargy, and stereotypic behaviors. CYFIP1 mRNA expression levels positively correlated with the ADOS-2 comparison score(r(2) = 0.33, p = 0.0349), with no significant correlations with other molecular markers. In conclusion, autism symptom severity is associated with more adverse cognitive and adaptive skills and specific behaviors in FXS, whereas CYFIP1 mRNA expression levels may be a potential biomarker for severity of ASD in FXS.

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2. Arenella M, Matuleviciute R, Tamouza R, Leboyer M, McAlonan G, Bralten J, Murphy D. Immunogenetics of autism spectrum disorder: A systematic literature review. Brain, behavior, and immunity. 2023; 114: 488-99.

The aetiology of autism spectrum disorder (ASD) is complex and, partly, accounted by genetic factors. Nonetheless, the genetic underpinnings of ASD are poorly defined. The presence of immune dysregulations in autistic individuals, and their families, supports a role of the immune system and its genetic regulators. Albeit immune responses belong either to the innate or adaptive arms, the overall immune system genetics is broad, and encompasses a multitude of functionally heterogenous pathways which may have different influences on ASD. Hence, to gain insights on the immunogenetic underpinnings of ASD, we conducted a systematic literature review of previous immune genetic and transcription studies in ASD. We defined a list of immune genes relevant to ASD and explored their neuro-immune function. Our review confirms the presence of immunogenetic variability in ASD, accounted by inherited variations of innate and adaptive immune system genes and genetic expression changes in the blood and post-mortem brain of autistic individuals. Besides their immune function, the identified genes control neurodevelopment processes (neuronal and synaptic plasticity) and are highly expressed in pre/peri-natal periods. Hence, our synthesis bolsters the hypothesis that perturbation in immune genes may contribute to ASD by derailing the typical trajectory of neurodevelopment. Our review also helped identifying some of the limitations of prior immunogenetic research in ASD. Thus, alongside clarifying the neurodevelopment role of immune genes, we outline key considerations for future work into the aetiology of ASD and possible novel intervention targets.

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3. Ballal SA, Greenwell S, Liu E, Buie T, Silvester J, Leier M, Filippelli M, Bousvaros A, Hron B. Comparing Gastrointestinal Endoscopy Findings in Children with Autism, Developmental Delay or Typical Development. The Journal of pediatrics. 2023: 113737.

OBJECTIVE: To compare endoscopic and histologic upper endoscopy (esophagogastroduodenoscopy [EGD]) findings in children with autism spectrum disorders (ASD) to age- and gender-matched controls with developmental delay (DD) or with typical development (TD). METHODS: Retrospective, cross-sectional study of children undergoing upper endoscopy, identifying those diagnosed with ASD, and matching on age and gender to children with DD or TD in ratio of 1:1:2. Rates of EGD findings were compared between the three groups using chi-squared or Fisher’s exact test. Multivariable linear regression was performed to identify predictors of abnormal histology. RESULTS: A total of 2,104 patients were included (526 ASD; 526 DD; 1052 TD). Children with ASD had higher rates of abnormal esophageal histology (ASD 38.4%; DD 33.4%; TD 30.4%, P=0.008), particularly esophagitis. In multivariable modeling, ASD diagnosis was an independent predictor of abnormal esophageal histology (odds ratio [OR] [95% confidence interval] 1.38 [1.09, 1.76]) compared with TD. Stomach findings did not differ among the groups. In the duodenum, histologic abnormalities were observed with lower frequency in ASD (ASD 17.0%; DD 20.1%; TD 24.2%, P=0.005). In multivariable analysis, ASD diagnosis was not a significant predictor [OR 0.78 (0.56, 1.09)] of abnormal duodenal histology. CONCLUSIONS: Children with ASD have higher rates of histologic esophagitis compared with age- and gender-matched DD and TD controls. ASD was a significant independent predictor of abnormal esophageal, but not, duodenal, histology. These results underscore the importance of upper endoscopy in children with ASD.

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4. Duvall L, May KE, Waltz A, Kana RK. The neurobiological map of theory of mind and pragmatic communication in autism. Social neuroscience. 2023: 1-14.

 Children with autism often have difficulty with Theory of Mind (ToM), the ability to infer mental states, and pragmatic skills, the contextual use of language. Neuroimaging research suggests ToM and pragmatic skills overlap, as the ability to understand another’s mental state is a prerequisite to interpersonal communication. To our knowledge, no study in the last decade has examined this overlap further. To assess the emerging consensus across neuroimaging studies of ToM and pragmatic skills in autism, we used coordinate-based activation likelihood estimation (ALE) analysis of 35 functional magnetic resonance imaging (MRI) studies (13 pragmatic skills, 22 ToM), resulting in a meta-analysis of 1,295 participants (647 autistic, 648 non-autistic) aged 7 to 49 years. Group difference analysis revealed decreased left inferior frontal gyrus (LIFG) activation in autistic participants during pragmatic skills tasks. For ToM tasks, we found reduced anterior cingulate cortex (ACC), medial prefrontal cortex (MPFC), and temporoparietal junction (TPJ) activation in autistic participants. Collectively, both ToM and pragmatic tasks showed activation in IFG and superior temporal gyrus (STG) and a reduction in left hemispheric activation in autistic participants. Overall, the findings underscore the cognitive and neural processing similarities between ToM and pragmatic skills, and their underlying neurobiological differences in autism.

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5. Gomes de Oliveira LI, Clementino JR, Salgaço MK, de Oliveira SPA, Dos Santos Lima M, Mesa V, de Souza EL, Vinderola CG, Magnani M, Sivieri K. Revealing the beneficial effects of a dairy infant formula on the gut microbiota of early childhood children with autistic spectrum disorder using static and SHIME® fermentation models. Food & function. 2023.

This study evaluated the impact of the Milnutri Profutura® (MNP) dairy infant formula on the gut microbiota of early childhood children (three to five years) with Autistic Spectrum Disorder (ASD) using static fermentation (time zero, 24, and 48 h) and the Simulator of the Human Intestinal Microbiol Ecosystem (SHIME®) (time zero, 72 h, and 7 days). The relative abundance of selected intestinal bacterial groups, pH values, organic acids, and sugars were verified at time zero, 24, and 48 h using flow cytometry and measurements. In addition, the diversity and changes in the gut microbiota, and the amounts of acetic, butyric, and propionic acids and ammonium ions (NH(4)(+)) in fermentation using the SHIME® were measured at time zero, 72 h, and 7 days. MNP increased Lactobacillus/Enterococcus and Bifidobacterium populations and decreased Bacteroides/Prevotella, Clostridium histolyticum and Eubacterium rectale/Clostridium coccoides populations (p < 0.05) at 24 and 48 h of static fermentation, showing a positive prebiotic activity score (65.18 ± 0.07). The pH, fructose and glucose decreased, while lactic, butyric, and propionic acids increased (p < 0.05) at 48 h of static fermentation. MNP increased (p < 0.05) the Firmicutes phylum during the fermentation in SHIME®. MNP decreased the diversity at 72 h of fermentation, mostly by the increase (p < 0.05) in the Lactobacillus genus. Microbial groups considered harmful such as Lachnospiraceae, Negativicoccus, and Lachnoclostridium were inhibited after administration with MNP. Propionic and butyric acids increased at 72 h and NH(4)(+) decreased (p < 0.05) at the end of fermentation with MNP. The results indicate MNP as an infant formula which may benefit the gut microbiota of children with ASD.

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6. Li Y, Huang WC, Song PH. A face image classification method of autistic children based on the two-phase transfer learning. Frontiers in psychology. 2023; 14: 1226470.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder, which seriously affects children’s normal life. Screening potential autistic children before professional diagnose is helpful to early detection and early intervention. Autistic children have some different facial features from non-autistic children, so the potential autistic children can be screened by taking children’s facial images and analyzing them with a mobile phone. The area under curve (AUC) is a more robust metrics than accuracy in evaluating the performance of a model used to carry out the two-category classification, and the AUC of the deep learning model suitable for the mobile terminal in the existing research can be further improved. Moreover, the size of an input image is large, which is not fit for a mobile phone. A deep transfer learning method is proposed in this research, which can use images with smaller size and improve the AUC of existing studies. The proposed transfer method uses the two-phase transfer learning mode and the multi-classifier integration mode. For MobileNetV2 and MobileNetV3-Large that are suitable for a mobile phone, the two-phase transfer learning mode is used to improve their classification performance, and then the multi-classifier integration mode is used to integrate them to further improve the classification performance. A multi-classifier integrating calculation method is also proposed to calculate the final classification results according to the classifying results of the participating models. The experimental results show that compared with the one-phase transfer learning, the two-phase transfer learning can significantly improve the classification performance of MobileNetV2 and MobileNetV3-Large, and the classification performance of the integrated classifier is better than that of any participating classifiers. The accuracy of the integrated classifier in this research is 90.5%, and the AUC is 96.32%, which is 3.51% greater than the AUC (92.81%) of the previous studies.

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7. McVey AJ, Jones DR, Waisman TC, Raymaker DM, Nicolaidis C, Maddox BB. Mindshift in autism: a call to professionals in research, clinical, and educational settings. Frontiers in psychiatry. 2023; 14: 1251058.

Autistic people often have poor outcomes over the life course, including in health, education, employment, and community inclusion. Many professionals working with Autistic adults in research, clinical, and educational settings devote their careers to trying to improve such outcomes. However, we maintain that real progress cannot happen without a fundamental mindshift. The status quo for professionals is to view autism as an illness. Instead, the neurodiversity movement encourages us to value and embrace autism as an aspect of human diversity and asks us to view Autistic people as a marginalized group that experiences significant disparities. While some professionals may be adopting language and concepts from the neurodiversity movement, we argue that making this mindshift fundamentally changes our practice across research, clinical, and educational settings. In this perspective, we call on professionals to embrace this mindshift to reduce discrimination and stigma, halt the spread of harmful ideologies, and help Autistic adults live fulfilling lives.

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8. Page SD, Souders MC, Aryal S, Pinto-Martin JA, Deatrick JA. A Comparison of Family Management Between Families of Children With Autism Spectrum Disorder and Families of Children With Down Syndrome. Journal of pediatric health care : official publication of National Association of Pediatric Nurse Associates & Practitioners. 2023.

INTRODUCTION: This cross-sectional study aimed to (1) compare family management between families of children with autism spectrum disorder (ASD) or Down syndrome and (2) evaluate the contribution of the child (ASD behaviors, feeding difficulties, sleep disturbances), caregiver (mental health) and family (social support) factors to the caregiver’s perceived condition management ability and effort. METHOD: Eighty-five caregivers (56 ASD, 29 Down syndrome) completed quantitative instruments online. Data analysis included independent samples t-tests and multiple linear regression. RESULTS: There were no significant differences in the dimensions of family management between groups. More ASD behaviors were associated with lower condition management ability and higher condition management effort. Lower perceived social support and higher caregiver age were associated with lower condition management ability. DISCUSSION: Integrating care into family life may be more challenging when the child has more social differences and behavioral rigidity. Nursing care should include an assessment of family social support.

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9. Plank IS, Traiger LS, Nelson AM, Koehler JC, Lang SF, Tepest R, Vogeley K, Georgescu AL, Falter-Wagner CM. The role of interpersonal synchrony in forming impressions of autistic and non-autistic adults. Scientific reports. 2023; 13(1): 15306.

When people meet, they almost instantaneously form an impression of each other. First impressions of character traits and rapport are less favourable when people with autism spectrum condition (ASC) are judged compared to non-autistic people. Little is known about the behavioural differences that drive these altered impressions. In the present study, we investigated the influence of interpersonal synchrony on impression formation of autistic and non-autistic people. Specifically, we used lagged cross-correlations to assess how much each interactant’s motion energy, a measure which can be determined from video recordings, influenced the other interactant’s motion energy. In short, silent clips of dyadic conversations, we asked non-autistic participants to rate their impression of one of the two interactants, which was solely based on the outlines of both interactants. We expected that the amount of leading of the target interactant, their diagnostic status as well as the interaction of these factors would influence impression formation. We found that while the amount of leading had a positive effect on the impressions of non-autistic interactants, this was not true for interactants with ASC. This suggests that interpersonal synchrony of motion energy is one driver of less favourable impressions of autistic compared to non-autistic people.

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10. Salloum-Asfar S. Editorial: Molecular advances and applications of machine learning in understanding autism and comorbid psychiatric disorders. Frontiers in molecular neuroscience. 2023; 16: 1277814.

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11. Sulentic A, Gupta M, Amin S, Wang Y, Vaiyani D, Sabin P, Partington SL, Gillespie MJ, Jolley MA. 3-Dimensional Modeling Guided Transcatheter Repair of Dehisced Pulmonary Venous Baffle With Gore ASD Device. JACC Case reports. 2023; 21: 101968.

A 38-year-old woman with sinus venosus atrial septal defect and partial anomalous return of the right upper pulmonary vein underwent a Warden procedure but experienced a large residual defect after patch dehiscence. Image-derived 3D modeling informed novel device closure with a Gore Cardioform atrial septal occluder. (Level of Difficulty: Advanced.).

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12. Tamanaha AC, Olivatti DOF, Silva SCD, Vieira SCP, Perissinoto J. Picture Exchange Communication System (PECS) Implementation Program for children with autism spectrum disorder. CoDAS. 2023; 35(4): e20210305.

PURPOSE: The aim of this study was to evaluate a program for implementing of the PECS in children with non-verbal ASD or with minimal verbalization in a school clinic belonging to the Unified Health System – SUS. METHODS: This is a longitudinal study. The sample consisted of 22 children with nonverbal ASD or with minimal verbalization; 17 boys and 5 girls, aged 6 to 12 years old. The program consisted of 24 sessions of individual speech language therapy with the presence of the family member and followed the six phases originally proposed by the PECS Training Manual. RESULTS: All children reached the first three phases. About 82% reached phase IV; 64% phase V and 19% phase VI. Family adherence was 96%. CONCLUSION: It was possible to test a PECS implementation program in 24 sessions and verify that children were able to achieve phases of discrimination and sentence construction, besides demonstrating gain in their lexical repertoire and reduction of non-adaptative behaviors.

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13. Yang J, Wang F, Li Z, Yang Z, Dong X, Han Q. Constructing high-order functional networks based on hypergraph for diagnosis of autism spectrum disorders. Frontiers in neuroscience. 2023; 17: 1257982.

INTRODUCTION: High-order functional connectivity networks (FCNs) that reflect the connection relationships among multiple brain regions have become important tools for exploring the deep workings of the brain and revealing the mechanisms of brain diseases. The traditional high-order FCN constructed based on the « correlation of correlations » strategy, is a representative method for conducting whole-brain connectivity analysis and revealing global network characteristics. However, whole-brain connectivity analysis may be affected by noise carried by less important brain regions, resulting in redundant information and affecting the accuracy and reliability of the analysis. Moreover, this type of analysis has a high computational complexity. METHODS: To address these issues, a new method for constructing high-order FCN based on hypergraphs is proposed in this article, which is used to accurately capture the real interaction relationships among brain regions. Specifically, first, a low-order FCN reflecting the connection relationships between pairs of brain regions based on resting-state functional Magnetic Resonance Imaging (rs-fMRI) time series is constructed, the method first constructs the low-order FCN that reflects the connection relationships between pairs of brain regions based on rs-fMRI time series, and then selects the « good friends » of each brain region from hypergraph perspective, which refers to the local friend circles with closer relationships. Then, the rs-fMRI time series corresponding to the « good friends » in each brain region’s friend circle are averaged to obtain a sequence that reflects the intimacy between brain regions in each friend circle. Finally, hypergraph high-order FCN, which reflects the interaction relationships among multiple brain regions, is obtained by calculating the correlations based on the sequence of friend circles. RESULTS: The experimental results demonstrate that the proposed method outperforms traditional high-order FCN construction methods. Furthermore, integrating the high-order FCN constructed based on hypergraphs and the low-order FCN through feature fusion to achieve complementary information improves the accuracy of assisting in the diagnosis of brain diseases. DISCUSSION: In addition, the effectiveness of our method has only been validated in the diagnosis of ASD. For future work, we plan to extend this method to other brain connectivity patterns.

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14. Yu Z, Zhang P, Tao C, Lu L, Tang C. Efficacy of nonpharmacological interventions targeting social function in children and adults with autism spectrum disorder: A systematic review and meta-analysis. PloS one. 2023; 18(9): e0291720.

BACKGROUND AND AIMS: This paper aimed to evaluate the use of nonpharmacological interventions for the management of autism spectrum disorder (ASD). The effects of acupuncture and behavioural therapy, two nonpharmalogical interventions, on social function in ASD patients are still controversial. This meta-analysis investigated the impact of these two treatments and compared their effects. METHODS: Seven electronic databases were systematically searched to identify randomized controlled trials (RCTs) on the use of acupuncture or behavioural therapy for ASD. A meta-analysis was carried out using Review Manager 5.4 software. Continuous data are reported as mean differences (MDs) or standardized mean differences (SMDs) with 95% confidence intervals (CIs). An assessment of methodological quality using the Cochrane risk-of-bias (ROB) tool for trials was carried out. The Grading of Recommendation Assessment, Development, and Evaluation (GRADE) was applied to evaluate the quality (certainty) of evidence for results regarding social function indicators. RESULTS: Thirty RCTs on acupuncture and 36 on behavioural therapy were included. Compared with the control condition, body acupuncture (SMD: 0.76, 95% CI: [0.52, 1.01]; low certainty), modern acupuncture technology (SMD: 0.84, 95% CI: [0.32, 1.35]; low certainty), cognitive behavioural therapy (SMD: 0.42, 95% CI: [0.26, 0.58]; high certainty), the Denver model (SMD: 0.61, 95% CI: [0.23, 0.99]; moderate certainty) and social skills training (SMD: 0.56, 95% CI: [0.41, 0.71]; moderate certainty) improved social functioning. CONCLUSION: Behavioural therapies (such as CBT, the Denver model, social skills training), improved the social functioning of patients with ASD in the short and long term, as supported by high- and moderate-quality evidence. Acupuncture (including scalp acupuncture, body acupuncture and use of modern acupuncture technology) also improved social functioning, as supported by low- and very low-quality evidence. More high-quality evidence is needed to confirm the effect of acupoint catgut embedding and Early Intensive Behavioural Intervention (EIBI).

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