1. Asada K, Akechi H, Kikuchi Y, Tojo Y, Hakarino K, Saito A, Hasegawa T, Kumagaya S. Longitudinal study of personal space in autism. Child Neuropsychol. 2024: 1-9.

The size and regulation of personal space are reportedly atypical in autistic individuals. As personal space regulates social interaction, its developmental change is essential for understanding the nature of social difficulties that autistic individuals face. Adolescence is an important developmental period in which social relationships become complex. We conducted a three-year longitudinal study of interpersonal distances in autistic and typically developing (TD) individuals aged 12-18 years at Time 1 and 15-21 years at Time 2. Their preferred interpersonal distances were measured when an experimenter approached the participants with and without eye contact. The interpersonal distances of autistic individuals were shorter than those of TD individuals at both Time 1 and Time 2. Furthermore, the interpersonal distances of autistic individuals at Time 1 and Time 2 were highly correlated, but no such correlation was found in TD individuals. The results suggest that the interpersonal distances of autistic individuals are stable and that the shorter preferred interpersonal distances in autistic individuals compared to those of TD individuals are maintained during adolescence.

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2. da Rosa A, Bezerra OS, Rohde LA, Graeff-Martins AS. Exploring clozapine use in severe psychiatric symptoms associated with autism spectrum disorder: A scoping review. J Psychopharmacol. 2024: 2698811241241384.

BACKGROUND: Patients with autism spectrum disorder (ASD) may experience severe psychiatric symptoms, often unresponsive to conventional pharmacological therapies, highlighting the need for more effective alternatives. AIMS: This study aims to map and synthesize evidence on the use of clozapine as a therapeutic option for managing severe psychiatric symptomatology co-occurring with ASD. METHODS: We conducted a scoping review on multiple sources following the JBI guidelines. The search strategy was inclusive, targeting both peer-reviewed publications and gray literature presenting empirical data on the use of clozapine therapy for patients with ASD accompanied by comorbid psychiatric symptoms. Two independent evaluators performed the selection of studies, data extraction, and critical appraisal. RESULTS: The review included 46 studies, encompassing 122 ASD individuals who received clozapine therapy. The sources of evidence comprise 31 case reports, 8 case series, 6 retrospective observational studies, and 1 quasi-experimental prospective study. The tables present the findings along with a narrative summary. Clozapine treatment demonstrated benefits in four groups of severe and treatment-resistant psychiatric symptoms in ASD patients: disruptive behaviors, psychotic symptoms, catatonia, and mood symptoms. Although side effects were common, tolerability was generally satisfactory. However, severe adverse events, such as seizures, moderate neutropenia, and myocarditis, underscore the need for intensive clinical monitoring. CONCLUSIONS: While clozapine shows promise as a pharmacological intervention for severe psychopathologies in ASD, more rigorous clinical studies are required to elucidate its efficacy and safety in this population. The limited robustness of the evidence calls for caution, signaling an early research stage into this topic.

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3. Ferrara R, Damato F, Iovino L, Marti F, Latina R, Colombi C, Ricci P. ESDM intervention in severe preschool autism: an Italian Case report, psychological and social medicine reflections. Ital J Pediatr. 2024; 50(1): 60.

BACKGROUND: The goal of our contribution is to discuss a preschool intervention based on the Early Start Denver Model and the use of the main tools for the detection of adaptive behaviour in cases of autism: Vineland, ABAS. CASE PRESENTATION: the work is the presentation of a clinical case that has benefited from an intervention with the Early Start Denver Model methodology for the benefit of a child with socio-cultural and economic disadvantages. This early intervention, in a child of 36 months, which followed the diagnosis, was possible thanks to the intervention of many third-sector organizations which allowed this child, with a serious autism profile, to receive an evidence-based intervention for free. At the beginning of the intervention, the child presented a diagnosis of severe autism with absence of gaze, vocalizations and other communicative impairments. The level of motor clumsiness was also quite high, as were stereotypies. CONCLUSIONS: Research has shown the usefulness of intervening in this area with an early assessment and/or diagnosis and immediate intervention; however, public health services are not always able to maintain this pace. Our contribution therefore shows on the one hand the evidence of the improvements achieved by the child despite the low intensity of the treatment, and on the other hand, demonstrates the total versatility and adaptability of the Denver Model to the Italian context. In our conclusions, there are also some reflections on the tools used to measure adaptive behavior which seem to have a number of limitations and criticalities.

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4. Guo Z, Tang X, Xiao S, Yan H, Sun S, Yang Z, Huang L, Chen Z, Wang Y. Systematic review and meta-analysis: multimodal functional and anatomical neural alterations in autism spectrum disorder. Mol Autism. 2024; 15(1): 16.

BACKGROUND: This meta-analysis aimed to explore the most robust findings across numerous existing resting-state functional imaging and voxel-based morphometry (VBM) studies on the functional and structural brain alterations in individuals with autism spectrum disorder (ASD). METHODS: A whole-brain voxel-wise meta-analysis was conducted to compare the differences in the intrinsic functional activity and gray matter volume (GMV) between individuals with ASD and typically developing individuals (TDs) using Seed-based d Mapping software. RESULTS: A total of 23 functional imaging studies (786 ASD, 710 TDs) and 52 VBM studies (1728 ASD, 1747 TDs) were included. Compared with TDs, individuals with ASD displayed resting-state functional decreases in the left insula (extending to left superior temporal gyrus [STG]), bilateral anterior cingulate cortex/medial prefrontal cortex (ACC/mPFC), left angular gyrus and right inferior temporal gyrus, as well as increases in the right supplementary motor area and precuneus. For VBM meta-analysis, individuals with ASD displayed decreased GMV in the ACC/mPFC and left cerebellum, and increased GMV in the left middle temporal gyrus (extending to the left insula and STG), bilateral olfactory cortex, and right precentral gyrus. Further, individuals with ASD displayed decreased resting-state functional activity and increased GMV in the left insula after overlapping the functional and structural differences. CONCLUSIONS: The present multimodal meta-analysis demonstrated that ASD exhibited similar alterations in both function and structure of the insula and ACC/mPFC, and functional or structural alterations in the default mode network (DMN), primary motor and sensory regions. These findings contribute to further understanding of the pathophysiology of ASD.

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5. Kanamori K, Suzuki T, Ota C. Parenting attitude towards children with autism spectrum disorders: the Japan environment and children’s study. BMJ Paediatr Open. 2024; 8(1).

OBJECTIVE: The primary objective of this study was to investigate the parenting attitudes towards children with autism spectrum disorders in early childhood in Japan. DESIGN: This study was a cohort study. The participants were enrolled from January 2011 to March 2014. We obtained the prevalence of autism spectrum disorders at 3 years of age, parenting attitudes and other factors from questionnaires. We divided the participants into two groups, an autism spectrum disorders group and a non-autism spectrum disorders group, and compared the parenting attitudes. SETTING: This study used data from a Japanese birth cohort study: the Japan Environment and Children’s Study, conducted across 15 regional centres in Japan. PARTICIPANTS: The full dataset of the Japan Environment and Children’s Study comprised 104 059 records. We excluded 17 889 records because the answer for the autism spectrum disorders in the questionnaire was blank. As a result, we analysed the remaining 82 411 mother-child pairs. MAIN OUTCOME MEASURES: The primary outcome variable was parenting attitudes at 3.5 years of age, which was assessed using a questionnaire. We asked respondents 16 questions related to parenting attitudes, and they answered based on their behaviours. The independent variable was the prevalence of autism spectrum disorders at 3 years of age. RESULTS: Of the 82 411 participants, the children with autism spectrum disorders at 3 years of age were 372 (0.45%). In most questions about parenting attitudes, the autism spectrum disorders group had unfavourable responses. The difference was particularly noticeable when the parents taught their children social discipline. Unfavourable parenting attitudes were 16.6% in the autism spectrum disorders group and 0.8% in the non-autism spectrum disorders group in the question item with the largest difference between the two groups, a significant difference. CONCLUSIONS: Parents of children with autism spectrum disorders tended to have unfavourable attitudes, suggesting the importance of parental training.

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6. Lang K. Autism and ADHD place « unprecedented » demand on NHS. Bmj. 2024; 385: q802.

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7. Molinaro G, Bowles JE, Croom K, Gonzalez D, Mirjafary S, Birnbaum SG, Razak KA, Gibson JR, Huber KM. Female-specific dysfunction of sensory neocortical circuits in a mouse model of autism mediated by mGluR5 and estrogen receptor α. Cell Rep. 2024; 43(4): 114056.

Little is known of the brain mechanisms that mediate sex-specific autism symptoms. Here, we demonstrate that deletion of the autism spectrum disorder (ASD)-risk gene, Pten, in neocortical pyramidal neurons ((NSE)Pten knockout [KO]) results in robust cortical circuit hyperexcitability selectively in female mice observed as prolonged spontaneous persistent activity states. Circuit hyperexcitability in females is mediated by metabotropic glutamate receptor 5 (mGluR5) and estrogen receptor α (ERα) signaling to mitogen-activated protein kinases (Erk1/2) and de novo protein synthesis. Pten KO layer 5 neurons have a female-specific increase in mGluR5 and mGluR5-dependent protein synthesis. Furthermore, mGluR5-ERα complexes are generally elevated in female cortices, and genetic reduction of ERα rescues enhanced circuit excitability, protein synthesis, and neuron size selectively in (NSE)Pten KO females. Female (NSE)Pten KO mice display deficits in sensory processing and social behaviors as well as mGluR5-dependent seizures. These results reveal mechanisms by which sex and a high-confidence ASD-risk gene interact to affect brain function and behavior.

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8. Pagano G, Lyakhovich A, Pallardó FV, Tiano L, Zatterale A, Trifuoggi M. Mitochondrial dysfunction in Fragile X syndrome and Fragile X-associated tremor/ataxia syndrome: prospect use of antioxidants and mitochondrial nutrients. Mol Biol Rep. 2024; 51(1): 480.

Fragile X syndrome (FXS) is a genetic disorder characterized by mutation in the FMR1 gene, leading to the absence or reduced levels of fragile X Messenger Ribonucleoprotein 1 (FMRP). This results in neurodevelopmental deficits, including autistic spectrum conditions. On the other hand, Fragile X-associated tremor/ataxia syndrome (FXTAS) is a distinct disorder caused by the premutation in the FMR1 gene. FXTAS is associated with elevated levels of FMR1 mRNA, leading to neurodegenerative manifestations such as tremors and ataxia.Mounting evidence suggests a link between both syndromes and mitochondrial dysfunction (MDF). In this minireview, we critically examine the intricate relationship between FXS, FXTAS, and MDF, focusing on potential therapeutic avenues to counteract or mitigate their adverse effects. Specifically, we explore the role of mitochondrial cofactors and antioxidants, with a particular emphasis on alpha-lipoic acid (ALA), carnitine (CARN) and Coenzyme Q10 (CoQ10). Findings from this review will contribute to a deeper understanding of these disorders and foster novel therapeutic strategies to enhance patient outcomes.

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9. Raches CM, Hines EN, Hines AC, Scott EK. Identifying Autism Spectrum Disorder in a High-risk Follow-up Program through Quality Improvement Methodology. Pediatr Qual Saf. 2024; 9(2): e717.

INTRODUCTION: Children born prematurely are at increased risk for autism spectrum disorder (ASD). ASD can be diagnosed between 18 and 24 months of age, but access barriers and medical complexity can delay diagnosis. ASD screening was implemented in a high-risk infant follow-up program using QI methodology. The project aimed to screen 60% of children and refer 90% of those with positive screens. METHODS: The team developed a standardized workflow to administer the M-CHAT-R/F to HRIF patients between the ages of 16-22 months. Telehealth ASD assessment, using the TELE-ASD-PEDS, was conducted for those who screened positive. Monthly team meetings were held to implement change cycles and review the impact of the previous month’s change. RESULTS: Within 7 months of program implementation, ASD screening exceeded the 60% aim. The program referred 72% of patients who screened as medium/high risk on the M-CHAT-R/F. The remaining patients were not referred per provider discretion. Twenty-seven percent of patients who received an autism evaluation received an ASD diagnosis. The average age at diagnosis was 22.5 months. CONCLUSIONS: An ASD screening protocol was implemented for patients enrolled in a high-risk infant follow-up program. Patients identified as at risk for ASD received an expedited telehealth ASD evaluation. The screening protocol was maintained for 13 months and is now part of the standard workflow. Screening has been expanded to other HRIF clinics, and evaluation appointments have been added to meet access needs. QI methodology is an effective tool for implementing ASD screening and referral in multidisciplinary HRIF programs.

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10. Rosenau KA, Kim J, Cho AB, Seltzer M, Ugueto AM, Weisz JR, Wood JJ. Meta-analysis of Psychotherapy for Autistic Youth. Child Psychiatry Hum Dev. 2024.

In order to provide more individualized support, it is imperative to further understand the effectiveness of different types of psychotherapy on the clinical areas of need common in autistic youth (Wood et al. in Behav Ther 46:83-95, 2015). Randomized controlled trials of psychotherapy for autistic youth were included if published in English, included random assignment to treatment or control group, required a previous diagnosis of autism, had a mean age of 6-17 years, and provided outcome measure data from both intervention and control groups. A total of 133 measures were coded across 29 studies and included 1464 participants with a mean age of 10.39 years (1.89). A small mean effect size (0.38,95% CI [0.26, 0.47]) was found overall, with the largest effects for cognitive behavioral therapies on autism-related clinical needs (0.81) and overall mental health (0.78). The results show the significant impact of psychotherapy interventions for autistic youth. Additional research should further assess the details of the most effective psychotherapies for each area of clinical need.

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11. Sapey-Triomphe LA, Puts NAJ, Costa TL, Wagemans J. GABA and Glx predict EEG responses of visual sensitivity in autism. Autism Res. 2024.

The mechanisms underlying atypical sensory processing in autism remain to be elucidated, but research points toward a role of the glutamatergic/GABAergic balance. To investigate the potential relationships between visual sensitivity and its molecular correlates in autism, we combined data from electroencephalography (EEG) and magnetic resonance spectroscopy (MRS) studies. Twenty autistic adults and sixteen neurotypical adults (NT) participated in both an EEG study assessing visual sensitivity (Sapey-Triomphe et al., Autism Research, 2023) and in an MRS study measuring Glx and GABA+ concentrations in the occipital cortex (Sapey-Triomphe et al., Molecular Autism, 2021). These studies revealed no group differences in neural detection thresholds or in Glx/GABA levels in the occipital cortex. Neural detection thresholds for contrast and spatial frequency (SF) were determined using fast periodic visual stimulations and neural frequency tagging. In the present study, Glx/GABA+ concentrations in the occipital cortex and neural detection thresholds did not differ between groups. Interestingly, lower Glx/GABA+ ratios were associated with lower contrast detection thresholds and higher SF detection thresholds. These correlations were also significant within the neurotypical and autistic groups. This report suggests that the Glx/GABA balance regulates visual detection thresholds across individuals. In both autistic and NTs, lower Glx/GABA ratios in the occipital cortex allow for better detection of visual inputs at the neural level. This study sheds light on the neurochemical underpinnings of visual sensitivity in autism and warrants further investigation.

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12. The Lancet Child Adolescent H. Evidence-based kindness and empathy for autistic children. Lancet Child Adolesc Health. 2024.

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13. Wong ML, Girdler S, Afsharnejad B, Ntoumanis N, Milbourn B, Kebble P, Morris S, Black MH. Motivation to participate in structured physical activity for autistic youth: A systematic scoping review. Autism. 2024: 13623613241240603.

Autistic youth participate less in physical education classes and organised sport than their neurotypical peers. We conducted a review of existing studies to investigate what is known about what motivates (and does not motivate) autistic youth to take part in structured physical activities. We systematically searched electronic databases and found 18 publications that met the criteria to be included in this review. Data from these studies were extracted and mapped to the self-determination theory to identify factors that support (or undermine) motivation for autistic youth. We also discussed the findings with autistic individuals and other relevant stakeholders to discover how the review related to their experiences. Our results found competence (youth feeling competent in their athletic and social skills and abilities) to be the most reported psychological need impacting motivation for autistic youth. Intrinsic motivation (participating for enjoyment and satisfaction) was the most common facilitator of motivation. Autism-specific themes outside of the self-determination theory were mapped inductively, and we found that the sensory environment was a prominent theme reported to influence the motivation of autistic youth not covered by the self-determination theory. The findings of this review suggest that supporting the psychological needs of autistic youth can foster motivation to engage in physical activity, although how these needs are met can differ from their neurotypical peers. Future research should examine motivational factors that support engagement in structured physical activities through the lens of autistic youth and their experiences.

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14. Wynn J, Karlsen A, Huber B, Levine A, Salem A, White LC, Luby M, Bezborodko E, Xiao S, Chung WK, Klitzman RL, Appelbaum PS. Impact of a Genetic Diagnosis for a Child’s Autism on Parental Perceptions. J Autism Dev Disord. 2024.

Genetic testing is recommended as part of an autism assessment, and most parents support genetic testing for their minor children. However, the impact on parents of receiving a monogenetic/ copy number variant diagnosis for autism in their child is not well understood. To explore this, we surveyed and interviewed parents of children in the SPARK study, a study of autism that includes genetic testing. Surveys were administered one month before and one and 12 months after parents received their child’s genetic result. Interviews were conducted approximately one month after results disclosure. A genetic diagnosis (GD) for their child appeared to reduce parents’ sense of self-blame and feelings of guilt, and this impact was relatively stable. The data also indicate a modest impact on parents’ actions related to the condition, perceptions of themselves, and some aspects of life planning for their child, as measured by quantitative instruments at one month and 12 months after receipt of results. Other measures of parental identity and expectations for their child, in contrast, showed little change following receipt of genetic findings. Overall, parents who were told that no GD was identified showed minimal changes in their responses over time. These results suggest a discernable but relatively limited impact of genetic test results on parents of children with autism. These results should be reassuring to clinicians caring for children with autism and are consistent with studies in other areas of medicine that have suggested that genetic results tend to have fewer effects-negative or positive-than were anticipated.

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