1. Alfieri P, Scibelli F, Sannino P, Napoli E, Menghini D, Stellino S, Valeri G, Vicari S. « BottegaMente »: An Italian program of internship for people with autism spectrum disorder. Res Dev Disabil. 2024; 155: 104859.

BACKGROUND: Transitioning into adulthood can be challenging for individuals with Autism Spectrum Disorder (ASD). Work is one of the most enduring and impactful aspects of adult life, as it plays a key role in helping people find meaning. However, research on the effectiveness of pre-employment programs in improving the health and well-being of autistic adolescents and young adults remains limited. This exploratory study aims to assess the impact of a nationwide internship program, « BottegaMente », on the adaptive functioning, emotion regulation, and quality of life of autistic teens, adults, and their families. METHOD: The program involved 82 participants, aged 13-36, and required active family involvement to ensure it addressed the needs of autistic individuals from the planning stages through implementation. Quantitative data were collected before (T0) and after the internship (T1). RESULTS: Our study demonstrated that the internship effectively enhanced adaptive skills, particularly in areas like home life and work skills for autistic adolescents and adults, as reflected by standardized outcomes at T1 compared to T0. CONCLUSION: This research is one of the pioneering efforts to evaluate the effectiveness of pre-employment internship programs for autistic adolescents and adults. Although preliminary, these findings could help to shape future studies on employment, an essential factor for overall quality of life and well-being.

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2. Chowdhury TA, Luy DA, Scapellato G, Farache D, Lee ASY, Quinn CC. Ortholog of autism candidate gene RBM27 regulates mitoribosomal assembly factor MALS-1 to protect against mitochondrial dysfunction and axon degeneration during neurodevelopment. PLoS Biol. 2024; 22(10): e3002876.

Mitochondrial dysfunction is thought to be a key component of neurodevelopmental disorders such as autism, intellectual disability, and attention-deficit hyperactivity disorder (ADHD). However, little is known about the molecular mechanisms that protect against mitochondrial dysfunction during neurodevelopment. Here, we address this question through the investigation of rbm-26, the Caenorhabditis elegans ortholog of the RBM27 autism candidate gene, which encodes an RNA-binding protein whose role in neurons is unknown. We report that RBM-26 (RBM26/27) protects against axonal defects by negatively regulating expression of the MALS-1 (MALSU1) mitoribosomal assembly factor. Autism-associated missense variants in RBM-26 cause a sharp decrease in RBM-26 protein expression along with defects in axon overlap and axon degeneration that occurs during larval development. Using a biochemical screen, we identified the mRNA for the MALS-1 mitoribosomal assembly factor as a binding partner for RBM-26. Loss of RBM-26 function causes a dramatic overexpression of mals-1 mRNA and MALS-1 protein. Moreover, genetic analysis indicates that this overexpression of MALS-1 is responsible for the mitochondrial and axon degeneration defects in rbm-26 mutants. These observations reveal a mechanism that regulates expression of a mitoribosomal assembly factor to protect against axon degeneration during neurodevelopment.

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3. Halliday AR, Vucic SN, Georges B, LaRoche M, Mendoza Pardo MA, Swiggard LO, McDonald K, Olofsson M, Menon SN, Francis SM, Oberman LM, White T, van der Velpen IF. Heterogeneity and convergence across seven neuroimaging modalities: a review of the autism spectrum disorder literature. Front Psychiatry. 2024; 15: 1474003.

BACKGROUND: A growing body of literature classifies autism spectrum disorder (ASD) as a heterogeneous, complex neurodevelopmental disorder that often is identified prior to three years of age. We aim to provide a narrative review of key structural and functional properties that differentiate the neuroimaging profile of autistic youth from their typically developing (TD) peers across different neuroimaging modalities. METHODS: Relevant studies were identified by searching for key terms in PubMed, with the most recent search conducted on September 1, 2023. Original research papers were included if they applied at least one of seven neuroimaging modalities (structural MRI, functional MRI, DTI, MRS, fNIRS, MEG, EEG) to compare autistic children or those with a family history of ASD to TD youth or those without ASD family history; included only participants <18 years; and were published from 2013 to 2023. RESULTS: In total, 172 papers were considered for qualitative synthesis. When comparing ASD to TD groups, structural MRI-based papers (n = 26) indicated larger subcortical gray matter volume in ASD groups. DTI-based papers (n = 14) reported higher mean and radial diffusivity in ASD participants. Functional MRI-based papers (n = 41) reported a substantial number of between-network functional connectivity findings in both directions. MRS-based papers (n = 19) demonstrated higher metabolite markers of excitatory neurotransmission and lower inhibitory markers in ASD groups. fNIRS-based papers (n = 20) reported lower oxygenated hemoglobin signals in ASD. Converging findings in MEG- (n = 20) and EEG-based (n = 32) papers indicated lower event-related potential and field amplitudes in ASD groups. Findings in the anterior cingulate cortex, insula, prefrontal cortex, amygdala, thalamus, cerebellum, corpus callosum, and default mode network appeared numerous times across modalities and provided opportunities for multimodal qualitative analysis. CONCLUSIONS: Comparing across neuroimaging modalities, we found significant differences between the ASD and TD neuroimaging profile in addition to substantial heterogeneity. Inconsistent results are frequently seen within imaging modalities, comparable study populations and research designs. Still, converging patterns across imaging modalities support various existing theories on ASD.

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4. Klila H, Giuliani F. [Autism spectrum disorder in woman and application of current recommendations]. Rev Med Suisse. 2024; 20(893): 2011-4.

The concept of autism has led to the inclusion of increasingly heterogeneous and atypical individuals. Clinicians find it difficult to establish clear boundaries between autism, other psychiatric and/or neurodevelopmental disorders and atypical individuals, despite standardized instruments. What’s more, these standardized instruments have been built around the male phenotype, and do not allow for an accurate assessment of autism in women. Whatever the gender, the diagnosis is based on multiple, variable, disabling and persistent deficits. Finally, we’ll mention a few recommendations to help clinicians make a diagnosis or invoke the precautionary principle.

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5. Larson E, Mattie RL, Riffkin SA. Assessment of Acceptability, Usage, and Impact on Caregivers of Children With Autism’s Stress and Mindfulness: Multiple-Method Feasibility Study of the 5Minutes4Myself App’s Mindfulness Module. JMIR Hum Factors. 2024; 11: e54171.

BACKGROUND: Caregiver wellness programs need to be easily accessible to address caregivers’ constraints to participation. OBJECTIVE: We aimed to assess the feasibility of 5Minutes4Myself app’s mindfulness module (usability, usage, and impact on caregivers’ levels of mindfulness and perceived stress). METHODS: Before and after participation in the 5Minutes4Myself program, 15 participants were asked to complete the Perceived Stress Scale (PSS) and Five Facet Mindfulness Questionnaire (FFMQ). Data on the usage of app-delivered meditations were collected electronically via the app, and app usability was rated on the Modified System Usability Scale. Analyses assessed participants’ frequency of use of app-delivered meditations, app usability, and changes in participants’ stress and mindfulness post intervention. RESULTS: Overall, participants completed 10.9 minutes of mindfulness meditations per week and rated the app 76.7, indicating above-average usability. Related samples t tests (2-tailed) found that group PSS (t10=1.20, P=.26) and FFMQ (t10=-1.57, P=.15) pre- or postintervention mean scores were not significantly different. However, a visualization of pre- and post-PSS and mindfulness scores suggested there was a group of responders who had decreased stress with increased mindfulness. This was confirmed via an individual change analysis. The effect size of the FFMQ scores (d=0.47) suggests there may be treatment effects with a larger sample. A hierarchical multiple regression analysis examined the degree mindfulness impacted perceived stress; 20% of the variance in participants’ perceived stress could be attributed to increases in self-rated mindfulness (P=.04) when controlling for preintervention stress levels. CONCLUSIONS: Caregivers found the app highly usable and on average used low-dose levels of mindfulness meditations (10 min/wk). For responders, increased mindfulness was related to stress reduction to population-based levels.

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6. Meijer J, Hebling Vieira B, Elleaume C, Baranczuk-Turska Z, Langer N, Floris DL. Toward understanding autism heterogeneity: Identifying clinical subgroups and neuroanatomical deviations. J Psychopathol Clin Sci. 2024; 133(8): 667-77.

Autism spectrum disorder (« autism ») is a neurodevelopmental condition characterized by substantial behavioral and neuroanatomical heterogeneity. This poses significant challenges to understanding its neurobiological mechanisms and developing effective interventions. Identifying phenotypically more homogeneous subgroups and shifting the focus from average group differences to individuals is a promising approach to addressing heterogeneity. In the present study, we aimed to parse clinical and neuroanatomical heterogeneity in autism by combining clustering of clinical features with normative modeling based on neuroanatomical measures (cortical thickness [CT] and subcortical volume) within the Autism Brain Imaging Data Exchange data sets (N autism = 861, N nonautistic individuals [N NAI] = 886, age range = 5-64). First, model-based clustering was applied to autistic symptoms as measured by the Autism Diagnostic Observation Schedule to identify clinical subgroups of autism (N autism = 499). Next, we ran normative modeling on CT and subcortical parcellations (N autism = 690, N NAI = 744) and examined whether clinical subgrouping resulted in increased neurobiological homogeneity within the subgroups compared to the entire autism group by comparing their spatial overlap of neuroanatomical deviations. We further investigated whether the identified subgroups improved the accuracy of autism classification based on the neuroanatomical deviations using supervised machine learning with cross-validation. Results yielded two clinical subgroups primarily differing in restrictive and repetitive behaviors (RRBs). Both subgroups showed increased homogeneity in localized deviations with the high-RRB subgroup showing increased volume deviations in the cerebellum and the low-RRB subgroup showing decreased CT deviations predominantly in the postcentral gyrus and fusiform cortex. Nevertheless, substantial within-group heterogeneity remained highlighted by the lack of improvement of the classifier’s performance when distinguishing between the subgroups and NAI. Future research should aim to further reduce heterogeneity incorporating additional neuroanatomical clustering in even larger samples. This will eventually pave the way for more tailored behavioral interventions and improving clinical outcomes. (PsycInfo Database Record (c) 2024 APA, all rights reserved).

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7. Niu X, Huang F, Lyu H, Liu J, Zhang X, Bian J, Gao Z, Liu B. The Deficiency of the ASD-Related Gene CHD8 Disrupts Behavioral Patterns and Inhibits Hippocampal Neurogenesis in Mice. J Mol Neurosci. 2024; 74(4): 103.

Chromodomain helicase DNA-binding 8 (CHD8) is a gene that poses a high risk for autism spectrum disorder (ASD) and neurological development delay. Nevertheless, the impact of CHD8 haploinsufficiency on both hippocampus neurogenesis and behavior remains uncertain. Here, we performed behavioral assessments on male and female CHD8 heterozygous mice. The study discovered that both male and female CHD8 heterozygous mice displayed an impairment in preference for social novelty. Concurrently, CHD8 heterozygous mice exhibited anxiety-like behavior. However, its cognitive capacity for learning and memory is within the expected range. Furthermore, we discovered a reduction in the number of both immature and mature new neurons in mice with CHD8 heterozygous, resulting in an impeded neurogenesis process in the hippocampus. Taken together, our findings indicate that CHD8 plays a crucial role in the regulation of hippocampal neurogenesis, and further suggest that ASD-like behaviors observed in CHD8 heterozygous mice may be associated with disruptions in hippocampal neurogenesis.

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8. Poli F, Koolen M, Velázquez-Vargas CA, Ramos-Sanchez J, Meyer M, Mars RB, Rommelse N, Hunnius S. Autistic traits foster effective curiosity-driven exploration. PLoS Comput Biol. 2024; 20(10): e1012453.

Curiosity-driven exploration involves actively engaging with the environment to learn from it. Here, we hypothesize that the cognitive mechanisms underlying exploratory behavior may differ across individuals depending on personal characteristics such as autistic traits. In turn, this variability might influence successful exploration. To investigate this, we collected self- and other-reports of autistic traits from university students, and tested them in an exploration task in which participants could learn the hiding patterns of multiple characters. Participants’ prediction errors and learning progress (i.e., the decrease in prediction error) on the task were tracked with a hierarchical delta-rule model. Crucially, participants could freely decide when to disengage from a character and what to explore next. We examined whether autistic traits modulated the relation of prediction errors and learning progress with exploration. We found that participants with lower scores on other-reports of insistence-on-sameness and general autistic traits were less persistent, primarily relying on learning progress during the initial stages of exploration. Conversely, participants with higher scores were more persistent and relied on learning progress in later phases of exploration, resulting in better performance in the task. This research advances our understanding of the interplay between autistic traits and exploration drives, emphasizing the importance of individual traits in learning processes and highlighting the need for personalized learning approaches.

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9. Shahkar L, Lashkarbolouk N, Bigdeli N, Mazandarani M. Coinfection of pulmonary lophomoniasis, tuberculosis, and hydatid cyst in a pediatric autism patient: a case report and literature review. BMC Pediatr. 2024; 24(1): 689.

INTRODUCTION: Autism Spectrum Disorder (ASD) is a neurodevelopmental condition marked by difficulties in social interaction, communication, and repetitive behaviors or restricted interests. Although research on the link between ASD and parasitic diseases is limited, immune deficiency and inflammation may contribute to the development of parasitic infections. CASE REPORT: We admitted a 14-year-old boy to the hospital who had a known history of ASD because he was presenting with respiratory symptoms, including cough and hemoptysis. During his time in the hospital, after conducting a series of tests and evaluations, we made a critical diagnosis of co-infection of lophomonas, tuberculosis, and hydatid cyst. In response to this diagnosis, we initiated a treatment plan that involved administering appropriate antibiotics as well as preparing for surgical intervention. CONCLUSION: This case report highlights the complexities and challenges of managing such a rare combination of co-infections with TB, pulmonary hydatid disease and lophomonas in a pediatric patient with underlying developmental considerations such as ASD.

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10. Tan JY, Li L, Yang YE, Wang W, Wang S. [Investigation and analysis of oral health status of children with autism and their parents’ cognition]. Shanghai Kou Qiang Yi Xue. 2024; 33(4): 403-6.

PURPOSE: To understand the cognitive level of parents of children with autism towards their oral health behaviors and oral health care, and to provide assistance in developing better oral health plans for children with autism. METHODS: Totally 117 children and parents with autism who visited our hospital from January to December 2018 were selected as the experimental group,while 121 non-autistic children during the same period were selected as the control group, the children’s oral hygiene was checked. Questionnaire survey was conducted on the oral health behaviors of pediatric patients, including daily brushing frequency, use of toothpaste, assistance from parents in brushing teeth, and frequency of snacking. At the same time, standardized measures were adopted to evaluate the oral health knowledge of parents, obtain their level of understanding oral health-related knowledge, and record the basic situation of parents. SPSS 21.0 software package was used for statistical analysis. RESULTS: The proportion of children with autism who have dental caries and periodontal health problems was relatively high, at 74.36% and 52.14%, respectively. Most pediatric patients had poor oral health behaviors, with a low proportion of brushing teeth ≥2 times per day and consistently using toothpaste, accounting for 17.09% and 13.68%, respectively. In addition, the score of oral health knowledge of parents of children in the experimental group [(6.40±2.55)] was lower than those in the control group [(6.95±2.47)], but there was no significant difference (P＞0.05). 93.16% of the children in the experimental group were taken care of full-time by their mother (72.65%) or father (20.51%), and most of the patients’s income was not high. The main caregivers and their education level, family income in the control group were significantly different from those in the experimental group (P＜0.05). Factors affecting the oral health of autism patients included brushing habits, primary caregivers and parents’ highest level of education. CONCLUSIONS: Parents of autistic children have a poor understanding of their children’s oral health behaviors, as well as health care. Therefore, education of oral health towards the parents of children with autism should be strengthened with the aim of improving their awareness of oral health and jointly maintaining their health.

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11. Zovetti N, Meller T, Evermann U, Pfarr JK, Hoffmann J, Federspiel A, Walther S, Grezellschak S, Jansen A, Abu-Akel A, Nenadić I. Multimodal imaging of the amygdala in non-clinical subjects with high vs. low autistic-like social skills traits. Psychiatry Res Neuroimaging. 2024: 111910.

Recent clinical and theoretical frameworks suggest that social skills and theory of mind impairments characteristic of autism spectrum disorder (ASD) are distributed in the general population on a continuum between healthy individuals and patients. The present multimodal study aimed at investigating the amygdala’s function, perfusion, and volume in 56 non-clinical subjects from the general population with high (n = 28 High-SOC) or low (n = 28 Low-SOC) autistic-like social skills traits. Participants underwent magnetic resonance imaging to evaluate the amygdala’s functional connectivity at rest, blood perfusion by means of arterial spin labelling, its activation during a face evaluation task and lastly grey matter volumes. The High-SOC group was characterised by higher blood perfusion in both amygdalae, lower volume of the left amygdala and higher activations of the right amygdala during processing of human faces with fearful value. Resting state analyses did not reveal any significant difference between the two groups. Overall, our results highlight the presence of overlapping morpho-functional alterations of the amygdala between healthy individuals and ASD patients confirming the importance of the amygdala in this disorder and in social and emotional processing. Our findings may help disentangle the neurobiological facets of ASD elucidating aetiology and the relationship between clinical symptomatology and neurobiology.

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