1. Al-Zboon EKA, Abdel Latif Moukhles Aljaiuossi N. An Evaluation of a Jordanian Version of the Bruininks-Oseretsky Test of Motor Proficiency Second Edition Brief Form (BOT-2BF) for Use with Children with Autism Spectrum Disorder. Percept Mot Skills. 2024: 315125241308345.

In the current study, we tested a Jordanian version of the Bruininks-Oseretsky Test of Motor Proficiency – Second Edition, Brief Form (BOT2-BF) for use with children with autism. Study participants were a convenience sample of 140 children in Jordan, aged 4-8 years, including70 children with autism spectrum disorder (ASD) and 70 children without disabilities. The BOT 2-BF consists of 12 items divided into eight main areas: fine motor skills, fine motor integration, manual dexterity, bilateral coordination, balance, speed and agility, coordination of the upper extremities, and strength. We administered the Jordanian version of the scale individually to all the participants and found it to have acceptable construct validity, internal item consistency, internal sub-scale correlations, discriminant validity for our two groups, and factorial validity on confirmatory factor analysis. The scale also had acceptable split-half reliability. This study is the first Arabic adaptation of the BOT-2BF, and it is the first study to show utility of this instrument for children with ASD. We present further recommendations for research and practice.

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2. Andrade C. Maternal Cannabis Use in Pregnancy and Autism Spectrum Disorder or Attention-Deficit/Hyperactivity Disorder in Offspring. J Clin Psychiatry. 2024; 86(1).

Up to 10% of women may use cannabis during pregnancy; this is of concern because constituents of cannabis cross the placental barrier and potentially influence neurodevelopment by acting on cannabinoid receptors in the developing fetal brain. In this context, a recent meta analysis of 13 observational studies found that gestational exposure to cannabis was associated with a small increase in the risk of autism spectrum disorder (ASD; relative risk [RR], 1.30) and with an even smaller increase in the risk of attention deficit/hyperactivity disorder (ADHD; RR, 1.13); the latter finding was probably supported by publication bias. In this meta-analysis, 4 studies provided information on ASD (pooled N = 178,565) and 10 on ADHD (pooled N = 203,783). In a large (n = 222,534) retrospectively ascertained cohort study published after the meta-analysis, cannabis use disorder (CUD) recorded before pregnancy, during pregnancy, and during pregnancy plus the year after delivery were associated with closely similar increased risks of ASD (RRs, 3.02-3.21). The risks were smaller in smokers (RRs, 1.74-1.87) than in nonsmokers (RRs, 4.55-4.83) but differed little between male (RRs, 3.01-3.06) and female (RRs, 2.71-2.85) offspring. Although the cohort study had many strengths, its limitations permitted only the conclusion that peri-pregnancy exposure to CUD is associated with a large increase in the risk of ASD in offspring; it remained possible that much of the risk was driven by genetic, environmental, or behavioral variables. The field is nascent; the total number of cannabis exposed pregnancies (with ASD and ADHD as the outcomes) in world literature is small. However, cannabis use during pregnancy is, at the very least, a clear marker for adverse neurodevelopmental outcomes, besides the adverse maternal, fetal, and neonatal outcomes identified in other studies. Healthcare providers who manage women who use cannabis during pregnancy need to be aware of these adverse outcomes.

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3. Andreasen S, Kuntz J, Ames ME, Coombs EC, McMorris C. Where are all the Services: Mapping Community-Based Services for Canadian Autistic Youth with Co-occurring Mental Health Conditions. J Autism Dev Disord. 2024.

PURPOSE: Autistic youth are at heightened risk of mental health issues and face several barriers to accessing appropriate supports. A lack of available services is a common barrier that many autistic youth experience, with only 43% of autistic youth from the US who needed mental health services receiving them. Little is known about the availability of these mental health services in Canada, despite the high prevalence of mental health issues in autistic youth. The current study is one of very few that has reviewed the state of community-based programs and services for the support of mental health challenges in autistic people in North America, and the first such study in Canada. METHODS: Using an environmental scan methodology, we conducted a search of resource listings on various community websites with a filter for « autism ». The resulting websites were then reviewed to find what services providers offer for autistic youth (≥ 25 years) and contacted to complete a survey. RESULTS: 267 listings of mental health supports were identified in the initial search, with 94 sites that specifically mentioned serving autistic youth. 43% (n = 40) of service providers completed a survey about the services they offered, therapeutic approaches, and background training. Providers reported that neurodiversity approaches and multi-disciplinary teams were working well in their practices, yet funding access and society’s views on autism were barriers they face. CONCLUSION: Findings add to the growing body of evidence that availability of services is a systemic barrier that many autistic youth experience when accessing mental health supports.

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4. Aviad S, Shnitzer-Meirovich S, Gur A. Parental Burnout in Israeli Parents of Children with ASD During Wartime: The Role of Child Behavior, Parental Emotion Regulation, Stress, and Social Support. J Autism Dev Disord. 2024.

During emergencies like wartime, parents of children with Autism Spectrum Disorder (ASD) face heightened challenges, potentially leading to Parental Burnout (PB). Wartime conditions can exacerbate children’s behavioral difficulties, contributing to PB. Protective factors such as successful Emotional Regulation (ER) and perceived social support may mitigate PB. This study aims to compare child behavioral problems, parental ER difficulties, perceived social support, stress, and PB between parents of children with ASD and Typical Development (TD) during wartime. It also investigates how ER difficulties, perceived social support, and stress moderate the relationship between child behavioral problems and PB. The study included 213 Israeli parents: 101 parents of children diagnosed with ASD and 112 parents of TD children. Participants were recruited during the « Swords of Iron » War using purposive sampling via online platforms. Findings indicate that children with ASD exhibited higher levels of behavioral problems, and their parents experienced increased difficulties in ER, stress, and PB, alongside decreased perceived social support compared to parents of TD children. Moderation analysis revealed that ER difficulties, perceived social support, and stress moderated the direct association between child behavioral problems and PB specifically among parents of TD children. This study underscores the heightened vulnerability of parents with ASD-diagnosed children during wartime, emphasizing the importance of understanding how these circumstances impact parental well-being and available resources. Effective interventions should target enhancing ER, social support, and addressing parental stress, PB, and child behavioral issues, underscoring the need for prioritized services despite wartime challenges.

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5. Boitsios G, Aeby A, Andrei AM. Case 336. Radiology. 2024; 313(3): e240185.

A 10-month-old female infant, who was second-born, was referred for progressive macrocephaly, axial hypotonia, developmental delay, and limb stiffness. Birth had occurred at 41 weeks, after an uneventful pregnancy and delivery, to nonconsanguineous parents. Noticeably, the child could not hold her head up at 4 months or sit at 10 months of age. Her vocalizations were modulated to express contentment or anger, without developmentally appropriate babbling. Neurologic examination revealed poor visual contact, progressive macrocephaly, substantial axial hypotonia, and limb stiffness with brisk osteotendinous reflexes, suggestive of spastic diplegia. No swallowing difficulties or seizures were reported, and long-term electroencephalographic monitoring revealed no abnormalities. The patient underwent 3-T MRI (Siemens Healthineers) of the brain, including morphologic sequences and spectroscopy (Figs 1-4), under general anesthesia with and without gadolinium-based contrast media administration (Dotarem; Guerbet).

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6. Cameron LA, Tonge BJ, Howlin P, Einfeld SL, Stancliffe RJ, Gray KM. Childhood and Adulthood Predictors of Community Participation by Autistic Adults With and Without Intellectual Disability. J Appl Res Intellect Disabil. 2025; 38(1): e70001.

BACKGROUND: Few studies have explored community participation for autistic adults, with or without intellectual disability. This study aims to investigate how autistic adults participate in the community, and the childhood and adulthood factors that predict community participation in adulthood. METHOD: Eighty-four autistic adults (mean age 34 years; 67% with co-occurring intellectual disability) initially recruited as children and adolescents, participated in the current study. Community participation frequency and variety were measured in adulthood. Childhood and adulthood predictors of community participation were investigated. RESULTS: Participants engaged in the community an average of 18.2 times (range 0-49) over the previous 30-day period, in an average of 6.3 different activities (range 0-13). Childhood and adulthood factors (autism symptoms, intellectual disability, living arrangements) were associated with community participation. CONCLUSION: Areas for additional support and resources were identified.

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7. Campanella S, Volpe T, Safar Y, Lunsky Y. « They need to speak a language everyone can understand »: Accessibility of COVID-19 vaccine information for Canadian adults with intellectual and developmental disabilities. Vaccine. 2024; 45: 126618.

Accessible vaccine information is one vital component of effective vaccination programs, however, there is limited research that explores how people with disabilities engage with public health messaging. This study aimed to understand how adults with intellectual and developmental disabilities (IDD) and their caregivers navigated Canada’s public health communications regarding COVID-19 vaccines. A national survey on the accessibility of vaccine information was conducted in the spring and summer of 2022. Surveys were completed by 208 adults with IDD, 102 family caregivers and friends, and 54 staff. Quantitative data were analyzed descriptively, and descriptive qualitative content analysis was applied to open-ended survey responses. Vaccine information was difficult to understand and was not accessible to many people with IDD and their caregivers. Approximately 75 % of adults with IDD found COVID-19-related information challenging to comprehend, followed by 69 % of family/friends and 56 % of staff. All three groups indicated they felt overwhelmed by the large quantity of information they had to navigate (adults with IDD, 72 %; family/friends, 65 %; staff, 70 %) and experienced difficulties such as finding trustworthy sources and identifying vaccine misinformation and disinformation. Respondents offered recommendations to improve public health messaging and the accessibility of future vaccine campaigns. Our study explored the experiences of Canadian adults with IDD and caregivers while navigating COVID-19 vaccine information, revealing significant barriers. To address these barriers and improve vaccine uptake, public health communications must ensure accessibility throughout every stage of immunization, including education campaigns, appointment booking, vaccination appointment, and aftercare services. Recommendations include using Easy Read language and multiple formats, supporting caregivers and community groups, and enlisting trusted community messengers to disseminate accurate information and build confidence among adults with IDD and their caregivers.

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8. Carbonell-Roig J, Aaltonen A, Wilson K, Molinari M, Cartocci V, McGuirt A, Mosharov E, Kehr J, Lieberman OJ, Sulzer D, Borgkvist A, Santini E. Dysregulated acetylcholine-mediated dopamine neurotransmission in the eIF4E Tg mouse model of autism spectrum disorders. Cell Rep. 2024; 43(12): 114997.

Autism spectrum disorder (ASD) consists of diverse neurodevelopmental conditions where core behavioral symptoms are critical for diagnosis. Altered dopamine (DA) neurotransmission in the striatum has been suggested to contribute to the behavioral features of ASD. Here, we examine DA neurotransmission in a mouse model of ASD characterized by elevated expression of eukaryotic initiation factor 4E (eIF4E), a key regulator of cap-dependent translation, using a comprehensive approach that encompasses genetics, behavior, synaptic physiology, and imaging. The results indicate that increased eIF4E expression leads to behavioral inflexibility and impaired striatal DA release. The loss of normal DA neurotransmission is due to a defect in nicotinic receptor signaling that regulates calcium dynamics in dopaminergic axons. These findings provide a mechanistic understanding of ASD symptoms and offer a foundation for targeted therapeutic interventions by revealing the intricate interplay between eIF4E, DA neurotransmission, and behavioral flexibility.

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9. Chi J, Song X, Liu J, Oh EG, Zhang Z, Xu Z, Yang H, Yuan H, Zhang Y. Scoliosis in Rett syndrome: a comparative analysis of postoperative complications. J Pediatr Orthop B. 2024.

Rett syndrome, a neurodevelopmental disorder primarily affecting females, presents unique challenges in managing associated scoliosis. This study aims to evaluate the efficacy and challenges of posterior spinal fusion (PSF) in Rett syndrome patients by analyzing postoperative complications. A retrospective cohort study was conducted using a large national database. We included Rett syndrome patients aged 10-18 years who underwent PSF between 2010 and 2020. Outcomes such as medical and surgical complications, emergency department visits, readmissions, mortality, and reoperation rates up to 5 years were compared with a matched neuromuscular scoliosis (NMS) group. The study identified 195 Rett syndrome patients and 973 NMS patients. Post-surgery, Rett syndrome patients showed a significantly higher incidence of pneumothorax (56.9%, P < 0.001), respiratory failure (24.6%, P = 0.013), and pneumonia (26.2%, P < 0.001). Additionally, ileus (7.2%, P = 0.041), acute kidney injury (14.9%, P = 0.029), and urinary tract infections (14.9%, P < 0.001) were also significantly more frequent in the Rett syndrome group. Rett syndrome group also had higher rates of transfusion (11.3%, P = 0.004). Interestingly, the incidence of pseudarthrosis, implant complications, junctional failures, and the necessity for reoperation did not significantly differ at postoperative year 2. Mid-term follow-up showed that the reoperation rates over a 5-year period did not significantly differ between the Rett syndrome and NMS groups. Rett syndrome is associated with increased immediate postoperative complications, necessitating tailored preoperative planning, and intensive postoperative care. Despite these challenges, the mid-term surgical outcomes are comparable to those in NMS patients.

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10. Durak M, Işık Ü. A Rare Case of Dose-Dependent Priapism in a Child with Autism Treated with Aripiprazole and Risperidone. J Child Adolesc Psychopharmacol. 2024.

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11. El-Bouhali-Abdellaoui F, Voltas N, Morales-Hidalgo P, Canals J. Examining the Relationship Between Parental Broader Autism Phenotype Traits, Offspring Autism, and Parental Mental Health. Autism Res. 2024.

Broader Autism Phenotype (BAP) traits may be present in parents of children on the autism spectrum. However, the prevalence and impact of these traits on parental mental health is poorly understood. We explore BAP traits and its relationship to mental health in 228 fathers and 261 mothers from a sample of 266 scholars from the EPINED study (Spain) grouped as follows: non-autism (N = 122), autism traits (N = 93: 38 subthreshold autism and 55 autism symptoms) and autism (N = 51). BAP rates were higher in fathers (36.9%) than in mothers (26.1%). Moreover, BAP was significantly more frequent in fathers of autistic children (52.3%) than in fathers of children without autistic traits (28.0%), with no differences between autistic conditions groups. Mothers of autistic children exhibited higher psychological distress (36.0%) than mothers of comparison group (19.2%). Fathers with BAP obtained significantly higher scores in emotional problems than fathers without BAP. Multivariate analyses showed that, fathers’ emotional problems were associated with their BAP traits, whereas in mothers they were associated with having a child with autism as well as the child’s emotional dysregulation. Identifying BAP in parents of autistic conditions children can help professionals to provide specific strategies for improving the well-being of children and parents.

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12. Fullwood C, Cross L, Atherton G, Chadwick D. Testing the Proteus Effect in Autistic and Neurotypical Participants. Cyberpsychol Behav Soc Netw. 2024.

This study examined the Proteus effect in autistic and neurotypical participants via the video game, The Sims. Thirty-two participants (16 autistic, 16 neurotypical) participated in a free-play session of The Sims, playing as either an attractive or unattractive avatar. In line with predictions, participants who had played as the attractive avatar negotiated for a significantly larger share of a fictional pot of money during a post-play economic game. Further, participants who had used the attractive avatar engaged in significantly more exercise activities in-game and flirted more often with nonplayable characters. While there was some evidence to suggest that autistic people may be less resistant to peer influence in the economic game, this study shows for the first time how the Proteus effect can be demonstrated in autistic people. These findings have important implications for understanding how autistic people experience video games and may be leveraged to improve outcomes for autistic video gamers.

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13. García-Pérez Á, González-Rodríguez A, Godoy-Giménez M, Sayans-Jiménez P, Cañadas F, Estévez AF. The differential outcomes procedure for improving the recognition of dynamic facial expressions of emotion in people with autism spectrum disorders and first-degree relatives. Psychol Res. 2024; 89(1): 38.

Previous research highlights impairments in the recognition of facial expression of emotion in individuals diagnosed with Autism Spectrum Disorder (ASD). Relatives of people with ASD may exhibit similar, albeit subtler, impairments, referred to as the Broad Autism Phenotype (BAP). Recently, the Differential outcomes procedure (DOP) has been shown to enhance this ability in young adults using dynamic stimuli, with fewer intensity levels required to identify fear and surprise. The present study aimed to extend these findings to adults diagnosed with ASD (ASD group), and relatives of people diagnosed with ASD (BAP group). A Bayesian Generalized Linear Model was employed for statistical inference. The results indicated that the ASD DOP group performed worse than the BAP DOP group in fear trials. The social dimension of autism negatively impacted performance in some conditions, while positive relationships were found between the repetitive behavior dimension and performance for the ASD group. The opposite pattern was observed in the BAP group. These results suggest the importance of considering different dimensions of autism when conducting research on its relationship with other variables. Finally, participants in both ASD and BAP groups required less intensity to identify certain emotions when the DOP was applied, highlighting its potential utility for improving dynamic facial emotion recognition.

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14. Georgiou N, Balzan RP, Delfabbro P, Young R. People with autistic traits are more likely to engage with misinformation and conspiracy theories in a simulated social media context. Cogn Neuropsychiatry. 2024: 1-20.

BACKGROUND: People with higher levels of autistic traits are shown to be more likely to endorse conspiracy theories and misinformation on traditional methods of measurement (e.g., self-report). However, such research has been limited by the lack of a naturalistic measure of misinformation and conspiracy theory endorsement that resembles social media platforms. METHOD: This study included measures of autistic traits, performance measures of critical reasoning and other notable covariates, to assess how participants performed in a simulated social media environment via the Misinformation Game, and whether they actively engaged with misinformation content. RESULTS: The results confirmed via a multiple mediation model (i.e., path analysis) that particular autistic traits, such as a lower ability to engage with imagination and higher attention to detail, were directly associated with false post engagement on the Misinformation Game and conspiracy theories. The relationship between autistic traits, conspiracy theories and misinformation was also partially mediated by scientific reasoning skills. LIMITATIONS: This study was partially based on self-report methodology and did not use an entirely clinical sample. CONCLUSION: There are particular autistic traits associated with the endorsement of misinformation and conspiracy theories which illustrate tendencies that could be focussed upon in future research to how best avoid misbeliefs.

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15. Ke Y, Chen L, Zhou X. The Impact of Metaphoric Language Intervention on Psychological Perceptions of Students with Autism. J Autism Dev Disord. 2024.

This study aimed to investigate the influence of metaphoric language intervention (MLI) on students’ psychological perception in bilingual learning, focusing on both autistic and students with non-autism. Students with autism often exhibit apprehension toward engaging in bilingual learning with their peers, resulting in reduced enjoyment and unfavorable language learning outcomes. A cohort of 108 students with autism and 102 students with non-autism, who demonstrated psychological perception engagement through MLI, was recruited for the study. The findings revealed that autistic male students reported higher levels of enjoyment in MLI compared to autistic female students, with metaphoric expressions being preferred over literal ones. Additionally, a positive correlation was observed between the quality of MLI and increased psychological perception, receptiveness, and enjoyment in bilingual learning, leading to favorable perceptual outcomes for students with autism. These findings highlight the critical role of integrating MLI and implementing targeted psychological perceptions to enhance the quality of bilingual learning for students with autism. This approach shows promise as a practical and universally applicable language therapy that effectively addresses challenges in bilingual learning and fosters a deeper interest in communication, particularly among individuals with autism.

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16. Khan K, Katarya R. MCBERT: A multi-modal framework for the diagnosis of autism spectrum disorder. Biol Psychol. 2024; 194: 108976.

Within the domain of neurodevelopmental disorders, autism spectrum disorder (ASD) emerges as a distinctive neurological condition characterized by multifaceted challenges. The delayed identification of ASD poses a considerable hurdle in effectively managing its impact and mitigating its severity. Addressing these complexities requires a nuanced understanding of data modalities and the underlying patterns. Existing studies have focused on a single data modality for ASD diagnosis. Recently, there has been a significant shift towards multimodal architectures with deep learning strategies due to their ability to handle and incorporate complex data modalities. In this paper, we developed a novel multimodal ASD diagnosis architecture, referred to as Multi-Head CNN with BERT (MCBERT), which integrates bidirectional encoder representations from transformers (BERT) for meta-features and a multi-head convolutional neural network (MCNN) for the brain image modality. The MCNN incorporates two attention mechanisms to capture spatial (SAC) and channel (CAC) features. The outputs of BERT and MCNN are then fused and processed through a classification module to generate the final diagnosis. We employed the ABIDE-I dataset, a multimodal dataset, and conducted a leave-one-site-out classification to assess the model’s effectiveness comprehensively. Experimental simulations demonstrate that the proposed architecture achieves a high accuracy of 93.4 %. Furthermore, the exploration of functional MRI data may provide a deeper understanding of the underlying characteristics of ASD.

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17. Khudiakova V, Alexandrovsky M, Ai W, Lai MC. What We Know and Do Not Know About Camouflaging, Impression Management, and Mental Health and Wellbeing in Autistic People. Autism Res. 2024.

Camouflaging is an impression management strategy employed by some autistic people, widely seen as a response to the pervasive stigma surrounding autism in society. Autistic narratives and lived experiences consistently link camouflaging to anxiety, depression, suicide risks, and autistic burnout. Quantitative research is yet to determine the nature of these relationships, with a significant portion of recent studies providing inconsistent evidence. While camouflaging can be a compelled survival strategy in social environments, it might also contribute to positive outcomes such as securing employment and forming positive social relationships, implicating a complex interrelationship with mental health and wellbeing. We advocate for using a transactional impression management framework to understand camouflaging and wellbeing and address the inconsistencies in research. Through examining the transactions among a person’s individual and cognitive characteristics, behavior modification strategies, and the particular social contexts they find themselves in, this framework guides new empirical research directions to delineate the relationships between camouflaging, impression management, mental health, and wellbeing. There is a need to develop multiple measures of camouflaging that delineate the motivations, ability, effortfulness, and perceived effectiveness of camouflaging and examine how a person’s social behaviors are perceived in different social environments. Research should also focus on intersectionality, sociocultural influences, and diverse autistic voices to study context-sensitive camouflaging experiences across the autistic population.

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18. Nie L, Irwin C, Geahchan S, Singh KK. Human pluripotent stem cell (hPSC)-derived models for autism spectrum disorder drug discovery. Expert Opin Drug Discov. 2024: 1-19.

INTRODUCTION: Autism spectrum disorder (ASD) is a prevalent and complex neurodevelopmental disorder (NDD) with genetic and environmental origins. Currently, there are no effective pharmacological treatments targeting core ASD features. This leads to unmet medical needs of individuals with ASD and requires relevant human disease models recapitulating genetic and clinical heterogeneity to better understand underlying mechanisms and identify potential pharmacological therapies. Recent advancements in stem cell technology have enabled the generation of human pluripotent stem cell (hPSC)-derived two-dimensional (2D) and three-dimensional (3D) neural models, which serve as powerful tools for ASD modeling and drug discovery. AREAS COVERED: This article reviews the applications of hPSC-derived 2D and 3D neural models in studying various forms of ASD using pharmacological perturbation and drug screenings, highlighting the potential use of these models to develop novel pharmacological treatment strategies for ASD. EXPERT OPINION: hPSC-derived models recapitulate early human brain development spatiotemporally and have allowed patient-specific mechanistic investigation and therapeutic development using advanced molecular technologies, which will contribute to precision medicine for ASD therapy. Improvements are still required in hPSC-based models to further enhance their physiological relevance, clinical translation, and scalability for ASD drug discovery.

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19. Onda K, Ichwansyah R, Kawasaki K, Egawa J, Someya T, Hasegawa I. Spontaneous theory of mind in autism: are anticipatory gaze and reaction time biases consistent?. Front Psychiatry. 2024; 15: 1189777.

BACKGROUND: Individuals with autism spectrum disorder (ASD) exhibit persistent deficits in social interaction and communication in adulthood. Pioneering studies have suggested that these difficulties arise from a lack of immediate, spontaneous mentalizing (i.e., theory of mind: ToM), specifically, an ability to attribute false beliefs to others, which should be usually acquired during neurotypical development. However, this view has been challenged by recent reports of nonreplications of spontaneous mentalizing, even in neurotypical adults. OBJECTIVES: We aimed to evaluate (1) whether measurements of spontaneous ToM in two representative paradigms, gaze bias in the anticipatory looking (AL) test and reaction time bias in the object detection (OD) test, are correlated in neurotypical adults and (2) whether these two measurements are altered in individuals with ASD. METHODS: We developed a novel hybridized spontaneous false belief test combining the AL and OD paradigms to enable within-subject comparison of different spontaneous ToM measurements. RESULTS: The results obtained with our hybridized test replicated the earlier positive evidence for spontaneous ToM in both AL and OD paradigms. Our results also revealed a correlation between the participants’ spontaneous gaze bias in the AL paradigm and reaction time bias in the OD paradigm, indicating that the participants who had spontaneously anticipated other’s false belief driven actions more quickly detected the object. We further found that spontaneous gaze and reaction time biases were altered in individuals with ASD. Finally, we ascertained those inclusions of these biases as diagnostic variables in a regression model improved the accuracy of diagnosing ASD. ASD diagnosis was best predicted by the model when variables obtained from both AL and OD methods were included in the model. CONCLUSIONS/IMPLICATIONS: Our hybridized paradigm not only replicated spontaneous gaze bias in early AL studies and reaction time bias in the OD paradigms, but indicated significant correlation between them, suggesting that different implicit tasks tap the same spontaneous ToM in neurotypical adults. Group differences of these indices between ASD and neurotypical adult groups indicated that our task could help diagnose ASD, which is essential for evaluating the social difficulties that individuals with ASD face in adulthood.

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20. Pettinato F, Valle MS, Cioni M, Cirnigliaro L, Rizzo R, Barone R, Bosco G, Casabona A. Dynamical complexity of postural control system in autism spectrum disorder: a feasibility study of linear and non-linear measures in posturographic analysis of upright posture. J Neuroeng Rehabil. 2024; 21(1): 225.

BACKGROUND: Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder, characterized by impairments in social interaction and communication with restricted and repetitive behavior. Postural and motor disturbances occur more often in ASD, in comparison to typically developing subjects, affecting the quality of life. Linear and non-linear indexes derived from the trajectory of the center of pressure (COP) while subjects stand on force platforms are commonly used to assess postural stability. The aim of the present feasibility study was to investigate whether combining linear and non-linear parameters of the COP during stance in subjects with ASD, could provide insight on specific features of motor dysfunction possibly linked to ASD cognition and clinical characteristics. METHODS: Twenty-two males, aged 10-15 years, including subjects with ASD and healthy controls (N = 11, respectively), were studied. They all had normal cognitive level and independent walking ability. A piezoelectric force platform was used to evaluate posture over three feet positions, with eyes open, closed and during visually-guided saccades. Linear (sway path, total area and root mean square) and non-linear parameters (fractal dimension and sample entropy) of the COP were measured to determine postural stability and the complexity and regularity of the COP signals. GLMM analyses were performed to assess COP parameter changes across experimental conditions and subject groups. Finally, Spearman correlations evaluated the significance of potential relationships between linear and non-linear measures as well as between non-linear parameters and clinical data in patients with ASD. RESULTS: Compared to controls, subjects with ASD showed reduced postural stability and complexity, with higher regularity of COP trajectories, particularly in the most unstable feet positions, during visually-guided saccades and in the medial-lateral direction. Spearman correlations indicated that, in the patients’ group, postural instability was associated with a decrease in the geometric complexity and an increase in the regularity of the COP trajectory. Moreover, the increase in regularity of the COP trajectory was associated to the severity of restricted and repetitive behavior. CONCLUSIONS: The results of this study highlight the importance of combining linear and non-linear measures in evaluating postural control in patients with ASD, also with respect to the outcome of interventions on these patients targeting postural balance.

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21. Rava A, Buzzelli V, Feo A, Ascone F, Di Trapano M, Schiavi S, Carbone E, Pasquadibisceglie A, Polticelli F, Manduca A, Trezza V. Role of peroxisome proliferator-activated receptors α and γ in mediating the beneficial effects of β-caryophyllene in a rat model of fragile X syndrome. Prog Neuropsychopharmacol Biol Psychiatry. 2024; 136: 111234.

β-Caryophyllene (BCP) is a naturally occurring sesquiterpene found in numerous plant species, including Cannabis sativa. BCP has shown a high safety profile and a wide range of biological functions, including beneficial effects in neurodegenerative and inflammatory diseases. Here, we used behavioral, pharmacological, and in-silico docking analyses to investigate the effects and mechanism of action of BCP in Fragile X Syndrome (FXS), the most common inherited cause of Autism Spectrum Disorder (ASD) and intellectual disability. To this aim, we used the recently validated Fmr1-(Δ)exon 8 rat model of FXS, that is also a genetic rat model of ASD. Acute and repeated oral administration of BCP rescued the cognitive deficits displayed by Fmr1-(Δ)exon 8 rats, without inducing tolerance after repeated administration. These beneficial effects were mediated by activation of hippocampal peroxisome proliferator-activated receptors (PPARs) α and γ, and were mimicked by the PPARα agonist Fenofibrate and the PPARγ agonist Pioglitazone. Conversely, CB2 cannabinoid receptors were not involved. Docking analyses further confirmed the ability of BCP to bind rat PPARs. Together, our findings demonstrate that hippocampal PPARs α and γ play a role in the cognitive deficits observed in a rat model of FXS, and provide first preclinical evidence about the efficacy and mechanism of action of BCP in neurodevelopmental disorders.

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22. Sabeh P, Dumas SA, Maios C, Daghar H, Korzeniowski M, Rousseau J, Lines M, Guerin A, Millichap JJ, Landsverk M, Grebe T, Lindstrom K, Strober J, Ait Mouhoub T, Zweier C, Steinraths M, Hebebrand M, Callewaert B, Abou Jamra R, Kautza-Lucht M, Wegler M, Kruszka P, Kumps C, Banne E, Waberski MB, Dieux A, Raible S, Krantz I, Medne L, Pechter K, Villard L, Guerrini R, Bianchini C, Barba C, Mei D, Blanc X, Kallay C, Ranza E, Yang XR, O’Heir E, Donald KA, Murugasen S, Bruwer Z, Calikoglu M, Mathews JM, Lesieur-Sebellin M, Baujat G, Derive N, Pierson TM, Murrell JR, Shillington A, Ormieres C, Rondeau S, Reis A, Fernandez-Jaen A, Au PYB, Sweetser DA, Briere LC, Couque N, Perrin L, Schymick J, Gueguen P, Lefebvre M, Van Andel M, Juusola J, Antonarakis SE, Parker JA, Burnett BG, Campeau PM. Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability. Am J Hum Genet. 2024.

E3 ubiquitin ligases have been linked to developmental diseases including autism, Angelman syndrome (UBE3A), and Johanson-Blizzard syndrome (JBS) (UBR1). Here, we report variants in the E3 ligase UBR5 in 29 individuals presenting with a neurodevelopmental syndrome that includes developmental delay, autism, intellectual disability, epilepsy, movement disorders, and/or genital anomalies. Their phenotype is distinct from JBS due to the absence of exocrine pancreatic insufficiency and the presence of autism, epilepsy, and, in some probands, a movement disorder. E3 ubiquitin ligases are responsible for transferring ubiquitin to substrate proteins to regulate a variety of cellular functions, including protein degradation, protein-protein interactions, and protein localization. Knocking out ubr-5 in C. elegans resulted in a lower movement score compared to the wild type, supporting a role for UBR5 in neurodevelopment. Using an in vitro autoubiquitination assay and confocal microscopy for the human protein, we found decreased ubiquitination activity and altered cellular localization in several variants found in our cohort compared to the wild type. In conclusion, we found that variants in UBR5 cause a neurodevelopmental syndrome that can be associated with a movement disorder, reinforcing the role of the UBR protein family in a neurodevelopmental disease that differs from previously described ubiquitin-ligase-related syndromes. We also provide evidence for the pathogenic potential loss of UBR5 function with functional experiments in C. elegans and in vitro ubiquitination assays.

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23. Tang D, Chen A, Xu J, Huang Y, Fan J, Wang J, Zhu H, Pi G, Yang L, Xiong F, Luo Z, Li G, Zeng L, Zhu S. Genetic analysis of partial duplication of the long arm of chromosome 16. BMC Med Genomics. 2024; 17(1): 294.

BACKGROUND: Pure partial trisomy 16q12.1q22.1 is a rare chromosome copy number variant (CNV). The primary clinical phenotypes associated with this syndrome include abnormal facial morphology, global developmental delay (GDD), short stature, and reported predisposing factors for atypical behavior, autism, the development of learning disabilities, and neuropsychiatric disorders. The dosage-sensitive genes associated with partial trisomy are not disclosed preventing to establish a genotype-phenotype correlation. METHODS: We report a case of a Chinese patient diagnosed with GDD and an abnormal facial shape, who was found to have partial trisomy 16 through karyotyping and high-throughput sequencing analysis. Karyotype and CNV tracing analyses were also conducted on the biological parents of the patient to assess for any chromosomal structural abnormalities. Additionally, we included 29 patients with pure partial trisomy 16q, reported in the DECIPHER database and the literature. We and performed a genotype-phenotype correlation analysis. RESULTS: The proband, a 2-year-old female, was found to have a de novo 21.96 Mb duplication located between 16q12.1q22.1, with no other deletions observed on other chromosomes, indicating a pure partial trisomy of 16q. Through genotype and phenotype analysis of 29 individuals, we found that patients with the duplicated region located at the distal region of 16q may exhibit more severe symptoms than those with duplication at the proximal region; however, no relationship was identified between phenotype and the size of the duplicated segment. CONCLUSION: We report, for the first time, a patient with partial trisomy 16q validated by multiple genetic tests, including CNV-seq, whole exome sequencing (WES), and karyotyping. It is speculated that partial trisomy of 16q may be associated with continuous gene duplication. However, functional studies are necessary to identify the causative gene or critical region linked to duplication syndrome of chromosome 16q.

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24. Wada A, Yamada R, Yamada Y, Sumiyoshi C, Hashimoto R, Matsumoto J, Kikuchi A, Kubota R, Matsui M, Nakachi K, Fujimaki C, Adachi L, Stickley A, Yoshimura N, Sumiyoshi T. Autistic trait severity in early schizophrenia: Role in subjective quality of life and social functioning. Schizophr Res. 2024; 275: 131-6.

BACKGROUND: Cognitive impairment is a cardinal feature in patients with schizophrenia and leads to poor social functioning. Recently, the treatment of schizophrenia has evolved to include the goal of improving quality of life (QoL). However, most of the factors influencing subjective QoL are unknown. Autistic traits have been shown to co-occur with various psychiatric conditions including schizophrenia. Hence, the present study aimed to investigate whether cognitive function and autistic trait severity are associated with social functioning and subjective QoL in patients with early schizophrenia. METHODS: Data were analyzed from 183 outpatients diagnosed with early schizophrenia in Tokyo, Japan. Information was obtained on neurocognition with the Japanese version of the Brief Assessment of Cognition in Schizophrenia. Autistic trait severity was assessed using the Autism Spectrum Quotient (AQ), while social functioning was measured with the Specific Levels of Functioning Scale Japanese version. Information was obtained on subjective QoL with the Subjective Well-being under Neuroleptic drug treatment Short form, Japanese version. Multiple regression analysis was used to examined associations. RESULTS: In an analysis adjusted for demographic characteristics (age, sex and education), both autistic trait severity (β = -0.56, p < 0.01) and neurocognitive function (β = 4.37, p < 0.01) were significantly associated with social function. On the other hand, only autistic trait severity made a significant contribution to the prediction of subjective QoL (β = -1.79, p < 0.01). CONCLUSIONS: The results of this study suggest that efforts to detect and treat cognitive impairment and comorbid autistic trait in early schizophrenia may be important for improving social functioning and subjective QoL in this population. In particular intervention that targets autistic trait severity seems to be key to achieving personal recovery in patients with schizophrenia.

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25. Yurkovic-Harding J, Bradshaw J. The Dynamics of Looking and Smiling Differ for Young Infants at Elevated Likelihood for ASD. Infancy. 2025; 30(1): e12646.

Social smiling is the earliest gained social communication skill, emerging around 2 months of age. From 2 to 6-months, infants primarily smile in response to caregivers. After 6 months, infants coordinate social smiles with other social cues to initiate interactions with the caregiver. Social smiling is reduced in older infants with autism spectrum disorder (ASD) but has rarely been studied before 6 months of life. The current study therefore aimed to understand the component parts of infant social smiles, namely look to caregiver and smile, during face-to-face interactions in 3 and 4-month-old infants at elevated (EL) and low likelihood (LL) for ASD. We found that EL and LL infants looked to their caregiver and smiled for similar amounts of time and at similar rates, suggesting that social smiling manifests similarly in both groups. A nuanced difference between groups emerged when considering temporal dynamics of looking and smiling. Specifically, 3-month-old EL infants demonstrated extended looking to the caregiver after smile offset. These findings suggest that social smiling is largely typical in EL infants in early infancy, with subtle differences in temporal coupling. Future research is needed to understand the full magnitude of these differences and their implications for social development.

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