1. Berg LM, Gurr C, Leyhausen J, Seelemeyer H, Bletsch A, Schaefer T, Pretzsch CM, Oakley B, Loth E, Floris DL, Buitelaar JK, Beckmann CF, Banaschewski T, Charman T, Jones EJH, Tillmann J, Chatham CH, Bourgeron T, Murphy DG, Ecker C. The neuroanatomical substrates of autism and ADHD and their link to putative genomic underpinnings. Molecular autism. 2023; 14(1): 36.

BACKGROUND: Autism spectrum disorders (ASD) are neurodevelopmental conditions accompanied by differences in brain development. Neuroanatomical differences in autism are variable across individuals and likely underpin distinct clinical phenotypes. To parse heterogeneity, it is essential to establish how the neurobiology of ASD is modulated by differences associated with co-occurring conditions, such as attention-deficit/hyperactivity disorder (ADHD). This study aimed to (1) investigate between-group differences in autistic individuals with and without co-occurring ADHD, and to (2) link these variances to putative genomic underpinnings. METHODS: We examined differences in cortical thickness (CT) and surface area (SA) and their genomic associations in a sample of 533 individuals from the Longitudinal European Autism Project. Using a general linear model including main effects of autism and ADHD, and an ASD-by-ADHD interaction, we examined to which degree ADHD modulates the autism-related neuroanatomy. Further, leveraging the spatial gene expression data of the Allen Human Brain Atlas, we identified genes whose spatial expression patterns resemble our neuroimaging findings. RESULTS: In addition to significant main effects for ASD and ADHD in fronto-temporal, limbic, and occipital regions, we observed a significant ASD-by-ADHD interaction in the left precentral gyrus and the right frontal gyrus for measures of CT and SA, respectively. Moreover, individuals with ASD + ADHD differed in CT to those without. Both main effects and the interaction were enriched for ASD-but not for ADHD-related genes. LIMITATIONS: Although we employed a multicenter design to overcome single-site recruitment limitations, our sample size of N = 25 individuals in the ADHD only group is relatively small compared to the other subgroups, which limits the generalizability of the results. Also, we assigned subjects into ADHD positive groupings according to the DSM-5 rating scale. While this is sufficient for obtaining a research diagnosis of ADHD, our approach did not take into account for how long the symptoms have been present, which is typically considered when assessing ADHD in the clinical setting. CONCLUSION: Thus, our findings suggest that the neuroanatomy of ASD is significantly modulated by ADHD, and that autistic individuals with co-occurring ADHD may have specific neuroanatomical underpinnings potentially mediated by atypical gene expression.

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2. Butera A, De Simone R, Potenza RL, Sanchez M, Armida M, Campanile D, Di Carlo N, Trenta F, Boirivant M, Ricceri L. Effects of a gut-selective integrin-targeted therapy in male mice exposed to early immune activation, a model for the study of autism spectrum disorder. Brain, behavior, and immunity. 2023.

To clarify the role of gut mucosal immunity in ASD, we evaluated, in the early-life immune activation (EIA) mouse model, the effects of administration of a monoclonal antibody directed against the integrin alpha4 beta7 (α4β7 mAb), blocking the leukocyte homing into the gut mucosa. EIA is a double-hit variant of the maternal immune-activation (MIA) model, including both prenatal (Poly I: C) and postnatal (LPS) immune challenges. In C57BL6/J EIA male adult offspring mice, IL-1β and IL-17A mRNA colonic tissue content increased when compared with controls. Cytofluorimetric analyses of lymphocytes isolated from mesenteric lymph-nodes (MLN) and spleens of EIA mice show increased percentage of total and CD4(+)α4β7(+), unstimulated and stimulated IL-17A(+) and stimulated IFN-γ(+) lymphocytes in MLN and CD4(+)α4β7(+) unstimulated and stimulated IL-17A(+) and stimulated IFN-γ(+) lymphocytes in the spleen. Treatment with anti-α4β7 mAb in EIA male mice was associated with colonic tissue IL-1β, and IL-17A mRNA content and percentage of CD4(+) IL-17A(+) and IFN-γ(+) lymphocytes in MLN and spleens comparable to control mice. The anti-α4β7 mAb treatment rescue social novelty deficit showed in the three-chamber test by EIA male mice. Increased levels of IL-6 and IL-1β and decreased CD68 and TGF-βmRNAs were also observed in hippocampus and prefrontal cortex of EIA male mice together with a reduction of BDNF mRNA levels in all brain regions examined. Anti-α4β7 mAb treatment restored the expression of BDNF, TGF-β and CD68 in hippocampus and prefrontal cortex. Improvement of the gut inflammatory status, obtained by a pharmacological agent acting exclusively at gut level, ameliorates some ASD behavioral features and the neuroinflammatory status. Data provide the first preclinical indication for a therapeutic strategy against gut-immune activation in ASD subjects with peripheral increase of gut-derived (α4β7+) lymphocytes expressing IL-17A.

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3. Fan L, Springfield C, Klein H, Ackerman RA, Sasson NJ, Pinkham AE. Assessing the diametrical model of schizotypal and autistic traits in emotion recognition and social functioning in a community sample. Schizophrenia research. 2023; 261: 194-202.

BACKGROUND: Some research suggests that schizotypal and autistic traits can produce opposing effects on the mentalizing domain of social cognition. Although such findings support a diametrical model proposing that psychotic and autistic traits represent opposite extremes of the social brain continuum, results from recent studies have been more inconsistent, and the applicability of this model to other social cognition domains remains unclear. To test the diametrical model more broadly, this study examined the interactions between schizotypal and autistic traits on emotion recognition and social functioning. METHOD: A total of 791 participants recruited from the general population self-reported schizotypal traits using the Schizotypal Personality Questionnaire-Brief Revised (SPQ-BR) and autistic traits using the Broad Autism Phenotype Questionnaire (BAPQ). Participants also completed the Emotion Recognition 40 task and the Specific Levels of Functioning (SLOF) scale. RESULTS: The SPQ subscales of interpersonal relationships and disorganized symptoms interacted significantly with social BAP on overall emotion recognition performance and the accuracy of identifying neutral faces. Supporting the diametrical model, elevated levels of both schizotypal and autistic traits contributed to higher emotion recognition accuracy compared to elevations on only one trait. For social functioning, however, the diametrical model was not supported. A main effect was found such that higher interpersonal relationship difficulties on SPQ predicted lower work skills on SLOF, and higher levels of both schizotypal and autistic traits combined to produce even lower social functioning. CONCLUSIONS: These findings suggest that the diametrical model may be more relevant to social cognition than to social functioning.

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4. Fuentes J, Parellada M, Georgoula C, Oliveira G, Marret S, Crutel V, Albarran C, Lambert E, Pénélaud PF, Ravel D, Ben Ari Y. Bumetanide oral solution for the treatment of children and adolescents with autism spectrum disorder: Results from two randomized phase III studies. Autism research : official journal of the International Society for Autism Research. 2023.

The efficacy and safety of bumetanide oral solution for the treatment of autism spectrum disorder (ASD) in children and adolescents was evaluated in two international, multi-center, randomized, double-blind, placebo-controlled phase III trials; one enrolled patients aged 7-17 years (SIGN 1 trial) and the other enrolled younger patients aged 2-6 years (SIGN 2). In both studies, patients were randomized to receive bumetanide oral solution twice daily (BID) or placebo BID during a 6-month double-blind treatment period. The primary endpoint was change in Childhood Autism Rating Scale 2 (CARS2) total raw score from baseline to Week 26. Key secondary endpoints included changes in Social Responsiveness Scale-2, Clinical Global Impression Scale, and Vineland Adaptive Behavior Scale. Each study enrolled 211 patients (bumetanide, n = 107; placebo, n = 104). Both studies were terminated early due to absence of any significant difference between bumetanide and placebo in the overall studied populations. In both studies, CARS2 total raw score decreased from baseline to Week 26 in the bumetanide and placebo groups, with no statistically significant difference between groups. No differences were observed between treatment groups for any of the secondary efficacy endpoints in either study. In both studies, treatment-emergent adverse events that occurred more frequently with bumetanide than placebo included thirst, polyuria, hypokalemia, and dry mouth. These large phase III trials failed to demonstrate a benefit of bumetanide for the treatment of pediatric ASD compared with placebo. Consequently, the sponsor has discontinued the development of bumetanide for the treatment of this condition. Trial registration: https://clinicaltrials.gov: SIGN 1: NCT03715166; SIGN 2: NCT03715153.

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5. Habayeb S, Inge A, Myrick Y, Hastings A, Long M, Hoffman SB, Parker S, Theodorou P, Soutullo O, Beers L, Godoy L. A Multisystem Approach to Improving Autism Care. Pediatrics. 2023.

Children with autism face significant barriers to accessing evaluations and intervention services often because of confusing referral processes, lack of centralized coordination across organizations serving children with autism, insurance coverage gaps, multiyear waitlists for diagnostic services, and limited provider knowledge about autism. Racism and systemic inequities exist and persist in autism care across the United States. This article reviews targeted initiatives implemented by a multidisciplinary team to advocate for, and address barriers faced, by autistic children and their families in Washington, DC. We describe initiatives across multiple levels of the health care system including: 1. infrastructure-building initiatives (eg, coalition-building, policy, and advocacy); 2. enabling services (eg, population- and community-level supports that increase provider capacity to serve children’s and families’ needs); and 3. direct services (eg, innovative, gap-filling programs that directly serve children and families). We review outcomes and describe lessons learned.

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6. Laçin E. Increasing Vocabulary and Listening Comprehension During Adapted Shared Reading: An Intervention for Preschoolers with Autism Spectrum Disorder. Journal of autism and developmental disorders. 2023.

PURPOSE: This study examined the improvement in vocabulary and listening skills of children with ASD through adapted shared reading. It also investigated the generalisation effect of this increase to new books and social validity. METHODS: A multiple probe across participants design was used to investigate the effect of ASR (adapted shared reading) on the vocabulary and listening comprehension skills of young children with autism spectrum disorder (ASD). The participants were Turkish-speaking children diagnosed with ASD attending a preschool special education institution in Turkey. The researcher analysed the data obtained from the baseline, intervention, generalization and mastery phases using the visual analysis method. RESULTS: Following the intervention, all three participating children gradually improved their vocabulary and listening comprehension skills. The findings suggest that young children with ASD can participate in and benefit from shared reading interventions with support. CONCLUSION: The adapted shared reading method (ASR) is an effective method for increasing the vocabulary and listening comprehension skills of young children with ASD.

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7. Lai CC, Hsieh HC, Lee WK, Lin CH, Lin HY. Application of remodeled glove puppetry for children with developmental disabilities: a randomized controlled trial. Assistive technology : the official journal of RESNA. 2023.

This study aimed to improve hand performance and play behavior in children with developmental disabilities (DD) using a remodeled glove puppetry approach. Overall, 62 children with DD were randomly assigned to experimental and control groups (n = 31 each). The experimental group underwent a 12-week rehabilitation program by playing with the remodeled glove puppetry, while the children in the control group played with non-remodeled glove puppetry. The Chinese puppet was remodeled using a Lego EV3® robot. Hand kinematics were analyzed through the Siliconcoach® Pro 7 software, which measured the force produced by the baseline ® hydraulic pinch gauge. Play behavior was measured using the Knox Preschool Play Scale-revised (KPPS-r). The experimental group exhibited significant improvements compared to the control group in hand kinematics (wrist range of motion [ROM], p < 0.05; metacarpophalangeal ROM, p < 0.05; proximal interphalangeal ROM, p < 0.05) and KPPS-r scores (space management, p < 0.05; material management, p < 0.05; pretense-symbolic, p < 0.05; participation, p < 0.05). After the 12-week rehabilitation with the remodeled glove puppetry, the experimental group exhibited significant improvement in kinematics and KPPS-r scores.

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8. Longhurst P, Burnette CB. Challenges and opportunities for conceptualizing intuitive eating in autistic people. The International journal of eating disorders. 2023.

Although intuitive eating (IE) has become an increasingly adopted intervention target, current conceptualisations of IE have yet to pivot away from (neuro)normative physiology and phenomenology. Autistic individuals commonly report disordered eating behaviours and/or poorer well-being but appear to benefit from adaptive interventions using an affirmative approach. This article uses autism as a case example to summarise challenges related to IE’s prevailing conceptualisation, before proposing how future research and current practice can be extended to the autistic population. Scholars are encouraged to evaluate the full 10-principal IE framework while utilising a participatory-led approach. We argue that research using a mixed methods design is urgently needed to comprehensively explore the (re)conceptualisation of IE in autistic people. While IE shows promise for producing positive outcomes in the autistic population, we discuss the potential challenges for research and practice due to its current emphasis on accurate interoception, emotional awareness and processing, and executive functioning. This suggests the need for research and practice to integrate autistic needs and experiences into future developments with an affirmative approach. Public Significance: IE is an effective intervention for reducing disordered eating behaviours. Autistic individuals commonly present disordered eating behaviours and have unique nutritional needs which often require intervention. However, there is limited understanding of IE among the autistic population. Research-informed definitions involving autistic perspectives will support translating the IE framework to this underrepresented population.

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9. Lord C, Wilson RB. Digital phenotyping could help detect autism. Nature medicine. 2023.

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10. Martzoukou M, Papadopoulos D, Kosmidis MH. Syntactic and affective prosody recognition: Schizophrenia vs. Autism spectrum disorders. PloS one. 2023; 18(10): e0292325.

Patients with a recent diagnosis of schizophrenia and individuals receiving a diagnosis of autism spectrum disorder without accompanying intellectual impairment (ASD w/o intellectual impairment) during their adulthood share several clinical characteristics. Exploring under-investigated aspects of these two clinical conditions may shed light on their possible connection and facilitate differential diagnosis at very early stages. To this end, we explored the ability of 15 adults with a recent diagnosis of schizophrenia, 15 individuals diagnosed with ASD w/o intellectual impairment as adults, and 15 healthy adults to resolve sentence ambiguities with the use of syntactic prosody, and to decode happiness, anger, sadness, surprise, fear, and neutrality based on affective prosody. Results revealed intact perception of syntactic prosody in adults with schizophrenia, but impaired affective prosody recognition, which could be attributed, however, to emotion processing difficulties overall. On the other hand, individuals with ASD w/o intellectual impairment were impaired on prosody comprehension per se, as evidenced in the most challenging conditions, namely the subject-reading condition and the emotion of surprise. The differences in prosody comprehension ability between the two clinical conditions may serve as an indicator, among other signs, during the diagnostic evaluation.

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11. Meng F, Li F, Wu S, Yang T, Xiao Z, Zhang Y, Liu Z, Lu J, Luo X. Machine learning-based early diagnosis of autism according to eye movements of real and artificial faces scanning. Frontiers in neuroscience. 2023; 17: 1170951.

BACKGROUND: Studies on eye movements found that children with autism spectrum disorder (ASD) had abnormal gaze behavior to social stimuli. The current study aimed to investigate whether their eye movement patterns in relation to cartoon characters or real people could be useful in identifying ASD children. METHODS: Eye-tracking tests based on videos of cartoon characters and real people were performed for ASD and typically developing (TD) children aged between 12 and 60 months. A three-level hierarchical structure including participants, events, and areas of interest was used to arrange the data obtained from eye-tracking tests. Random forest was adopted as the feature selection tool and classifier, and the flattened vectors and diagnostic information were used as features and labels. A logistic regression was used to evaluate the impact of the most important features. RESULTS: A total of 161 children (117 ASD and 44 TD) with a mean age of 39.70 ± 12.27 months were recruited. The overall accuracy, precision, and recall of the model were 0.73, 0.73, and 0.75, respectively. Attention to human-related elements was positively related to the diagnosis of ASD, while fixation time for cartoons was negatively related to the diagnosis. CONCLUSION: Using eye-tracking techniques with machine learning algorithms might be promising for identifying ASD. The value of artificial faces, such as cartoon characters, in the field of ASD diagnosis and intervention is worth further exploring.

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12. Pellicano E, Hall G, Ying Cai R. Autistic adults’ experiences of financial wellbeing: Part II. Autism : the international journal of research and practice. 2023: 13623613231191594.

Money matters in people’s lives. It helps to meet people’s basic needs (food, clothes, shelter) and live the lives they want to. When people talk about ‘financial wellbeing’, they mean how much you feel in control over day-to-day finances and how much freedom you have to make choices to enjoy life. We don’t know what autistic people think about these things. That’s why we did our study. We spoke to 21 autistic adults (24-69 years) about how they felt about their financial situation. We deliberately spoke to people who had told us previously they felt ‘financially well’ or ‘financially unwell’ so we could hear a range of opinions. Autistic people told us financial wellbeing meant having enough money to pay for their basics needs, to have a safety net for unexpected bills and not having to worry about money now or in the future. But many felt that good financial wellbeing was not possible for them. They often did not have a stable income to cover day-to-day expenses. This limited the choices they could make. Despite these challenges, autistic people told us they worked hard to budget and save money when they could – because feeling financial insecure was just too stressful, especially when they could not rely on family or friends for support. It made them feel mentally unwell. Our study shows there are many factors that influence autistic people’s financial wellbeing. We need more research to help us understand how autistic people can be supported to achieve financial security.

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13. Riboldi EM, Capelli E, Cantiani C, Beretta C, Molteni M, Riva V. Differentiating early sensory profiles in toddlers at elevated likelihood of autism and association with later clinical outcome and diagnosis. Autism : the international journal of research and practice. 2023: 13623613231200081.

Early sensory responsiveness may produce cascading effects on later development, but the relation between sensory profiles and autistic diagnosis remains unclear. In a longitudinal sample of toddlers at elevated likelihood for autism, we aimed to characterize sensory subgroups and their association with clinical outcomes later on. Three sensory subgroups were described and early sensory sensitivity plays a significant role in later development and diagnosis. This study supported the importance of examining different levels of sensory patterns to dissect the phenotypic heterogeneity in sensory processing. As sensory differences are associated with later developmental outcomes, these results may be critical when designing intervention needs and support for children at increased likelihood for neurodevelopmental disorders.

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14. Van Biesen D, Van Damme T, Morgulec-Adamowicz N, Buchholtz A, Anjum M, Healy S. A Systematic Review of Digital Interventions to Promote Physical Activity in People With Intellectual Disabilities and/or Autism. Adapted physical activity quarterly : APAQ. 2023: 1-21.

This systematic review synthesized the literature on digital health interventions for the promotion of physical activity (PA) among people with intellectual disabilities and/or autism. From an initial screening of 553 records, 10 studies underwent full-text review. Data were extracted relating to study, intervention, and sample characteristics and PA-related findings. Methodological quality was evaluated using the Crowe Critical Appraisal Tool. There were mixed findings pertaining to the effectiveness of digital health interventions for promoting PA among these populations. Positive results were reported for three of five active-video-game interventions, two of three social-media-based interventions, and one of two e-learning/multicomponent interventions. Digital health interventions can potentially be effective for promoting PA among people with intellectual disabilities and/or autism. However, the large variation in the samples and intervention types and a reliance on pre- and quasi-experimental research designs suggest that inferences should be made with caution and additional research is needed.

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