1. DiPiero MA, Surgent OJ, Travers BG, Alexander AL, Lainhart JE, Dean Iii DC. Gray matter microstructure differences in autistic males: A gray matter based spatial statistics study. NeuroImage Clinical. 2022; 37: 103306.

BACKGROUND: Autism spectrum disorder (ASD) is a complex neurodevelopmental condition. Understanding the brain’s microstructure and its relationship to clinical characteristics is important to advance our understanding of the neural supports underlying ASD. In the current work, we implemented Gray-Matter Based Spatial Statistics (GBSS) to examine and characterize cortical microstructure and assess differences between typically developing (TD) and autistic males. METHODS: A multi-shell diffusion MRI (dMRI) protocol was acquired from 83 TD and 70 autistic males (5-to-21-years) and fit to the DTI and NODDI models. GBSS was performed for voxelwise analysis of cortical gray matter (GM). General linear models were used to investigate group differences, while age-by-group interactions assessed age-related differences between groups. Within the ASD group, relationships between cortical microstructure and measures of autistic symptoms were investigated. RESULTS: All dMRI measures were significantly associated with age across the GM skeleton. Group differences and age-by-group interactions are reported. Group-wise increases in neurite density in autistic individuals were observed across frontal, temporal, and occipital regions of the right hemisphere. Significant age-by-group interactions of neurite density were observed within the middle frontal gyrus, precentral gyrus, and frontal pole. Negative relationships between neurite dispersion and the ADOS-2 Calibrated Severity Scores (CSS) were observed within the ASD group. DISCUSSION: Findings demonstrate group and age-related differences between groups in neurite density in ASD across right-hemisphere brain regions supporting cognitive processes. Results provide evidence of altered neurodevelopmental processes affecting GM microstructure in autistic males with implications for the role of cortical microstructure in the level of autistic symptoms. CONCLUSION: Using dMRI and GBSS, our findings provide new insights into group and age-related differences of the GM microstructure in autistic males. Defining where and when these cortical GM differences arise will contribute to our understanding of brain-behavior relationships of ASD and may aid in the development and monitoring of targeted and individualized interventions.

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2. Hernandez LM. Sex-Differential Neuroanatomy in Autism: A Shift Toward Male-Characteristic Brain Structure. The American journal of psychiatry. 2023; 180(1): 8-10.

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3. Kaiser FMP, Gruenbacher S, Oyaga MR, Nio E, Jaritz M, Sun Q, van der Zwaag W, Kreidl E, Zopf LM, Dalm V, Pel J, Gaiser C, van der Vliet R, Wahl L, Rietman A, Hill L, Leca I, Driessen G, Laffeber C, Brooks A, Katsikis PD, Lebbink JHG, Tachibana K, van der Burg M, De Zeeuw CI, Badura A, Busslinger M. Correction: Biallelic PAX5 mutations cause hypogammaglobulinemia, sensorimotor deficits, and autism spectrum disorder. The Journal of experimental medicine. 2023; 220(1).

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4. Lerner MD, Day TC. Beyond the Landmarks: Where to Next With Biomarkers of Autism?. The American journal of psychiatry. 2023; 180(1): 5-7.

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5. Lim M, Carollo A, Neoh MJY, Sacchiero M, Azhari A, Balboni G, Marschik P, Nordahl-Hansen A, Dimitriou D, Esposito G. Developmental disabilities in Africa: A scientometric review. Research in developmental disabilities. 2022; 133: 104395.

BACKGROUND: Developmental disabilities are disproportionately more investigated in higher-income countries. However, global prevalence of developmental disabilities indicate that a large proportion of individuals with disabilities reside in low- and middle-income nations. AIMS: The present work therefore aims to conduct a scientometric review to survey available literature on developmental disabilities in low- and middle-income countries belonging to the continent of Africa. METHODS AND PROCEDURES: A literature search was conducted on Scopus, where a total of 1720 relevant publications (and an accompanying 66 thousand references) were found, representing research conducted between 1950 to 2022. Then, document co-citation analysis was performed to chart significant co-citation relationships between relevant articles and their cited references. OUTCOMES AND RESULTS: The generated network based on document co-citation analysis revealed a total of 14 distinct thematic research clusters and 12 significant documents that have been frequently cited in the literature on developmental disabilities in Africa. CONCLUSIONS AND IMPLICATIONS: The scientometric review revealed a trend of broadening research towards systems of care, away from a medical model of disease. It is projected that future research will continue to capitalise on inter-disciplinary strengths to arrive at a more nuanced understanding of developmental disability from all levels – individuals, families, to communities.

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6. Liu Z, Tan S, Zhou L, Chen L, Liu M, Wang W, Tang Y, Yang Q, Chi S, Jiang P, Zhang Y, Cui Y, Qin J, Hu X, Li S, Liu Q, Chen L, Li S, Burstein E, Li W, Zhang X, Mo X, Jia D. SCGN deficiency is a risk factor for autism spectrum disorder. Signal transduction and targeted therapy. 2023; 8(1): 3.

Autism spectrum disorder (ASD) affects 1-2% of all children and poses a great social and economic challenge for the globe. As a highly heterogeneous neurodevelopmental disorder, the development of its treatment is extremely challenging. Multiple pathways have been linked to the pathogenesis of ASD, including signaling involved in synaptic function, oxytocinergic activities, immune homeostasis, chromatin modifications, and mitochondrial functions. Here, we identify secretagogin (SCGN), a regulator of synaptic transmission, as a new risk gene for ASD. Two heterozygous loss-of-function mutations in SCGN are presented in ASD probands. Deletion of Scgn in zebrafish or mice leads to autism-like behaviors and impairs brain development. Mechanistically, Scgn deficiency disrupts the oxytocin signaling and abnormally activates inflammation in both animal models. Both ASD probands carrying Scgn mutations also show reduced oxytocin levels. Importantly, we demonstrate that the administration of oxytocin and anti-inflammatory drugs can attenuate ASD-associated defects caused by SCGN deficiency. Altogether, we identify a convergence between a potential autism genetic risk factor SCGN, and the pathological deregulation in oxytocinergic signaling and immune responses, providing potential treatment for ASD patients suffering from SCGN deficiency. Our study also indicates that it is critical to identify and stratify ASD patient populations based on their disease mechanisms, which could greatly enhance therapeutic success.

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7. Mounzer W, Stenhoff DM, Alkhateeb JM, Al Khatib AJ. A follow-up study of early intensive behavioral intervention program for children with Autism in Syria. Scientific reports. 2023; 13(1): 70.

We examined the sustained effects of early intensive behavioral intervention (EIBI) on 66 children with autism spectrum disorder who participated in the Future Center’s EIBI program. Children were assessed using the childhood autism rating scale (CARS), autism behavior checklist (ABC), and adaptive behavior scale (ABS-Arabic) 3 years after leaving the program. Continued positive effects were observed in several areas, including adaptive behavior and autism symptoms. However, participants’ social skills might have declined on the ABS-Arabic after service withdrawal. Additionally, a significant negative association (p < .001) was found between participants' performance on the CARS and the number of weekly trials. This is encouraging, given the lack of EIBI services and regional instability. Future research should increase the sample size and use a more rigorous design.

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8. Richard Williams NM, Hurt-Thaut C, Thaut MH. Novel Screening Tool and Considerations for Music Therapists Serving Autistic Individuals via Telehealth: Qualitative Results from a Survey of Clinicians’ Experiences. Journal of music therapy. 2023.

During the COVID-19 pandemic, music therapists transitioned services from in-person to telehealth due to health and safety concerns. Though online delivery of music therapy services for autistic individuals occurred prior to 2020, the number of North American music therapists using telehealth with autistic clients rose substantially during the pandemic. The current paper’s objective was to delineate music therapists’ perceptions regarding factors that helped or hindered autistic persons’ engagement in online music therapy sessions. In total, 192 participants completed the survey. Qualitative content analysis of an open-ended question identified seven overarching themes regarding the benefits and challenges of telehealth music therapy for autistic clients. Findings were used to create a screening tool to help music therapists evaluate autistic persons’ suitability for telehealth and meet the needs of those who can benefit from telehealth music therapy.

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9. Wang H, Liu S, Xu J, Hu X, Han ZR. Daily experiences and well-being of Chinese parents of children with autism. Autism : the international journal of research and practice. 2023: 13623613221144191.

The present study examined the influences of child-related stress, parental coping and social support on parental daily subjective well-being (i.e. positive and negative affect, life satisfactory) in Chinese families of children with autism spectrum disorder. For 14 days, a total of 76 parents (58 mothers) participated in the study and completed daily diaries. For mothers, child-related stress was related to lower life satisfaction; social support was related to higher life satisfaction that day. These daily relations were not found for fathers. Across all parents, avoidant coping was associated with higher negative affect and lower positive affect on the same day. Notably, daily positive coping was related to greater same-day positive affect as well as greater same-day and next-day life satisfaction. Interventions aimed at increasing positive coping and social support, and reducing child-related stress and avoidant coping are important to help parents maintain well-being, particularly for mothers of children with autism.

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10. Wang Z, Xu Y, Peng D, Gao J, Lu F. Brain functional activity-based classification of autism spectrum disorder using an attention-based graph neural network combined with gene expression. Cerebral cortex (New York, NY : 1991). 2022.

Autism spectrum disorder (ASD) is a complex brain neurodevelopmental disorder related to brain activity and genetics. Most of the ASD diagnostic models perform feature selection at the group level without considering individualized information. Evidence has shown the unique topology of the individual brain has a fundamental impact on brain diseases. Thus, a data-constructing method fusing individual topological information and a corresponding classification model is crucial in ASD diagnosis and biomarker discovery. In this work, we trained an attention-based graph neural network (GNN) to perform the ASD diagnosis with the fusion of graph data. The results achieved an accuracy of 79.78%. Moreover, we found the model paid high attention to brain regions mainly involved in the social-brain circuit, default-mode network, and sensory perception network. Furthermore, by analyzing the covariation between functional magnetic resonance imaging data and gene expression, current studies detected several ASD-related genes (i.e. MUTYH, AADAT, and MAP2), and further revealed their links to image biomarkers. Our work demonstrated that the ASD diagnostic framework based on graph data and attention-based GNN could be an effective tool for ASD diagnosis. The identified functional features with high attention values may serve as imaging biomarkers for ASD.

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