1. Brunklaus A. Autism and attention-deficit/hyperactivity disorder in Dravet syndrome. Dev Med Child Neurol;2024 (Jun 5)

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2. Chen CM, Wu CC, Kim Y, Hsu WY, Tsai YC, Chiu SL. Enhancing social behavior in an autism spectrum disorder mouse model: investigating the underlying mechanisms of Lactiplantibacillus plantarum intervention. Gut Microbes;2024 (Jan-Dec);16(1):2359501.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder affecting over 1% of the global population. Individuals with ASD often exhibit complex behavioral conditions, including significant social difficulties and repetitive behaviors. Moreover, ASD often co-occurs with several other conditions, including intellectual disabilities and anxiety disorders. The etiology of ASD remains largely unknown owing to its complex genetic variations and associated environmental risks. Ultimately, this poses a fundamental challenge for the development of effective ASD treatment strategies. Previously, we demonstrated that daily supplementation with the probiotic Lactiplantibacillus plantarum PS128 (PS128) alleviates ASD symptoms in children. However, the mechanism underlying this improvement in ASD-associated behaviors remains unclear. Here, we used a well-established ASD mouse model, induced by prenatal exposure to valproic acid (VPA), to study the physiological roles of PS128 in vivo. Overall, we showed that PS128 selectively ameliorates behavioral abnormalities in social and spatial memory in VPA-induced ASD mice. Morphological examination of dendritic architecture further revealed that PS128 facilitated the restoration of dendritic arborization and spine density in the hippocampus and prefrontal cortex of ASD mice. Notably, PS128 was crucial for restoring oxytocin levels in the paraventricular nucleus and oxytocin receptor signaling in the hippocampus. Moreover, PS128 alters the gut microbiota composition and increases the abundance of Bifidobacterium spp. and PS128-induced changes in Bifidobacterium abundance positively correlated with PS128-induced behavioral improvements. Together, our results show that PS128 treatment can effectively ameliorate ASD-associated behaviors and reinstate oxytocin levels in VPA-induced mice, thereby providing a promising strategy for the future development of ASD therapeutics.

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3. Chen RSY. Bridging the gap: fostering interactive stimming between non-speaking autistic children and their parents. Front Integr Neurosci;2024;18:1374882.

Non-speaking autistic individuals grapple with the profound impact of the ‘double empathy problem’ in their daily interactions with speaking others. This study rethinks the communication challenges faced by non-speaking autistic individuals, challenging traditional approaches that predominantly focus on speech and complex communication devices (AAC). By spotlighting the natural phenomenon of « interactive stimming, » a powerful mode of communication among autistic individuals, this study advocates for a shift from a conventional emphasis on speech towards the foundational role of the body in autistic communication. Central to this exploration is the introduction of the Magical Musical Mat (MMM), an innovative interactive environment mapping interpersonal touch to musical sounds. Through a robust mixed-methods approach integrating video-based fieldwork and design-based research, this paper engages three non-speaking autistic children and their mothers in a 5-day empirical intervention. Results reveal significant transformations in parent-child interactions as both parents and children are acquainted with touch in a new environment. Children assert their autonomy, exploring at their own pace, and discovering sensory features of the environment. Notably, the introduction of sound prompts heightened awareness of the stims, leading to diversified and expressive stim movements. Foregrounding interpersonal touch eventually guides parents into their children’s sensory activities where parents attune to the stims of their children by joining in and facilitating their expressiveness, co-creating extended, evolving patterns of repetitive cycles. The collaborative stim cycles can be likened to free improvisation, where dynamical coherence between individuals occurs through a blend of stability and active flexibility. By shifting the focus from speech to co-created sensory experiences, this paper sheds light on the value of transformative multisensory environments, envisioning a world where varied modes of communication are valued and embraced.

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4. Chouinard B, Pesquita A, Enns JT, Chapman CS. Processing of visual social-communication cues during a social-perception of action task in autistic and non-autistic observers. Neuropsychologia;2024 (Jun 6);198:108880.

Social perception and communication differ between those with and without autism, even when verbal fluency and intellectual ability are equated. Previous work found that observers responded more quickly to an actor’s points if the actor had chosen by themselves where to point instead of being directed where to point. Notably, this ‘choice-advantage’ effect decreased across non-autistic participants as the number of autistic-like traits and tendencies increased (Pesquita et al., 2016). Here, we build on that work using the same task to study individuals over a broader range of the spectrum, from autistic to non-autistic, measuring both response initiation and mouse movement times, and considering the response to each actor separately. Autistic and non-autistic observers viewed videos of three different actors pointing to one of two locations, without knowing that the actors were sometimes freely choosing to point to one target and other times being directed where to point. All observers exhibited a choice-advantage overall, meaning they responded more rapidly when actors were freely choosing versus when they were directed, indicating a sensitivity to the actors’ postural cues and movements. Our fine-grained analyses found a more robust choice-advantage to some actors than others, with autistic observers showing a choice-advantage only in response to one of the actors, suggesting that both actor and observer characteristics influence the overall effect. We briefly explore existing actor characteristics that may have contributed to this effect, finding that both duration of exposure to pre-movement cues and kinematic cues of the actors likely influence the choice advantage to different degrees across the groups. Altogether, the evidence suggested that both autistic and non-autistic individuals could detect the choice-advantage signal, but that for autistic observers the choice-advantage was actor specific. Notably, we found that the influence of the signal, when present, was detected early for all actors by the non-autistic observers, but detected later and only for one actor by the autistic observers. Altogether, we have more accurately characterized the ability of social-perception in autistic individuals as intact, but highlighted that detection of signal is likely delayed/distributed compared to non-autistic observers and that it is important to investigate actor characteristics that may influence detection and use of their social-perception signals.

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5. Cummings KK, Greene RK, Cernasov P, Kan DDD, Parish-Morris J, Dichter G, Kinard JL. Bilingualism Predicts Affective Theory of Mind in Autistic Adults. J Speech Lang Hear Res;2024 (Jun 6);67(6):1785-1802.

PURPOSE: This study examined the impact of bilingualism on affective theory of mind (ToM) and social prioritization (SP) among autistic adults compared to neurotypical comparison participants. METHOD: Fifty-two (25 autistic, 27 neurotypical) adult participants (ages 21-35 years) with varying second language (L2) experience, ranging from monolingual to bilingual, completed an affective ToM task. A subset of this sample also completed a dynamic eye-tracking task designed to capture differences in time spent looking at social aspects of a scene (SP). Four language groups were compared on task performance (monolingual autism and neurotypical, bilingual autism and neurotypical), followed by analyses examining the contribution of L2 experience, autism characteristics, and social face prioritization on affective ToM, controlling for verbal IQ. Finally, we conducted an analysis to identify the contribution of SP on affective ToM when moderated by autism status and L2 experience, controlling for verbal IQ. RESULTS: The monolingual autism group performed significantly worse than the other three groups (bilingual autism, monolingual neurotypical, and bilingual neurotypical) on the affective ToM task; however, there were no significant differences between the bilingual autism group compared to the monolingual and bilingual neurotypical groups. For autistic individuals, affective ToM capabilities were positively associated with both verbal IQ and L2 experience but did not relate to autism characteristics or SP during eye tracking. Neurotypical participants showed greater SP during the eye-tracking task, and SP did not relate to L2 or autism characteristics for autistic individuals. SP and verbal IQ predicted affective ToM performance across autism and neurotypical groups, but this relationship was moderated by L2 experience; SP more strongly predicted affective ToM performance among participants with lower L2 experience (e.g., monolingual) and had less of an impact for those with higher L2 experience. CONCLUSION: This study provides support for a bilingual advantage in affective ToM for autistic individuals. SUPPLEMENTAL MATERIAL: https://doi.org/10.23641/asha.25696083.

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6. De Jongh M, Mapisa HAM. Knowledge of autism among students at a South African Institute of Higher Education. Health SA;2024;29:2301.

BACKGROUND: Autism is a significant concern because of the increase in the prevalence of the disorder. University healthcare students might not all be adequately prepared to serve autistic individuals. Hence, there is a need in the South African context for information on healthcare practitioners’ knowledge of general aspects, diagnosis and management of autism. AIM: To determine current knowledge on autism among speech-language pathology and audiology (SLP & A) students at a South African Higher Education Institution. SETTING: The study was conducted among 65 second, third and fourth year students at the SLP & A Department of a South African Higher Education Institution. METHODS: A descriptive quantitative design utilising an online questionnaire was used to gather the quantitative and, to a lesser extent, qualitative data. Descriptive measures were used to analyse and summarise the data. RESULTS: Participants mainly understood autism’s fundamental symptoms and comorbidities, early intervention, team management and speech-language therapist (SLT) duties. Students were found to have little awareness of autism’s prevalence, causes, diagnosing experts, intervention methods and treatment. Participants felt uncomfortable treating autistic people owing to a lack of clinical exposure. Participants want further training. CONCLUSION: Students reported the need for additional training on autism, including its identification, diagnosis, assessment and treatment. It is recommended that the study be replicated at other institutions to impact other curricula. CONTRIBUTION: This research article provides input for enhancing the curriculum for Health Science Departments in Higher Education Institutions.

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7. Dwyer P, Sillas A, Prieto M, Camp E, Nordahl CW, Rivera SM. Hyper-focus, sticky attention, and springy attention in young autistic children: Associations with sensory behaviors and cognitive ability. Autism Res;2024 (Jun 5)

The autistic-developed monotropism account suggests that atypical, domain-general attentional hyper-focus on interests is a central aspect of autism, but domain-general attention differences in autism can manifest differently. Prior research suggests autistic children are often slow to disengage attention from stimuli-a pattern often called « sticky attention »-and that they can show reduced novelty preference. These attentional patterns could influence sensory experiences and learning. We used eye-tracking to investigate novelty preference and « sticky attention » in young autistic children; we also examined whether attentional patterns were related to cognitive abilities and caregiver-reported sensory responsiveness. A total of 46 autistic and 28 nonautistic participants, aged between 2 and 4 years, provided usable data. We found no evidence that autistic children exhibited greater « sticky attention » than nonautistics, but « sticky attention » in autism was associated with more caregiver-reported sensory hyper-responsiveness, seeking/interests, and enhanced perception. Autistic children also nonsignificantly trended toward exhibiting reduced novelty preference. Unexpectedly, the time-course of this trending novelty preference difference implied it was not driven by reduced orienting to novelty, but increased returning to already-familiarized stimuli: what we call « springy attention. » Exploratory analyses of data from the attentional disengagement task suggest autistic participants may have exhibited greater « springy attention, » though further research with paradigms optimized for measuring this construct should confirm this. Importantly, « springy attention » was robustly related to reduced cognitive abilities and greater caregiver-reported hypo-responsiveness. Thus, this study illuminates two distinct domain-general attentional patterns, each with distinct correlates in young autistic children, which could have important implications for understanding autistic children’s learning, development, and experiences.

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8. Gangai M, Karim E, Paruk S. Clinical profile of children and adolescents with autism spectrum disorder in Durban, South Africa. S Afr J Psychiatr;2024;30:2230.

BACKGROUND: There are often delays in accessing care and diagnosing autism spectrum disorders (ASDs), with little data from Southern Africa on the clinical profile of affected children and adolescents. AIM: To describe the socio-demographic and clinical variables of children and adolescents with ASD attending psychiatric services at two state hospitals in eThekwini Municipality, KwaZulu-Natal province, South Africa. SETTING: Two state hospitals in KwaZulu-Natal province, South Africa. METHODS: The retrospective chart review examined patient records for the period 01 January 2018 to 31 December 2021. Data were collated using a structured data questionnaire on birth and family history, current presentation, comorbid conditions, medications, and non-pharmacological interventions. RESULTS: Of the 67 children and adolescents accessing care for ASD during the study period (including the coronavirus disease 2019 [COVID-19] pandemic lockdown period), most were males (89%), with a mean age standard deviation (s.d.) of 10.69 (s.d. 2.64) years. There was a delay between recognition of first symptoms and an ASD diagnosis of approximately three years. The most common reasons for referral were behavioural problems and speech delay, with 57 patients having delayed milestones (85%). Comorbid attention deficit hyperactivity disorder was reported in 55.2% (n = 37) of the patients and intellectual disability in 50.7% (n = 34), and the commonest comorbid medical condition was epilepsy (n = 20; 29.8%). All participants were on psychotropic medications, with 40 (59%) being on more than one agent. CONCLUSION: The delay in diagnosing ASD, high rates of comorbidity, and need for polypharmacy are concerning. CONTRIBUTION: The study highlights the need for greater awareness of ASD in communities and health care workers to expedite diagnosis and facilitate prompt psychosocial support and rehabilitation.

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9. Giraldo-Berrio D, Mendivil-Perez M, Velez-Pardo C, Jimenez-Del-Rio M. Rotenone Induces a Neuropathological Phenotype in Cholinergic-like Neurons Resembling Parkinson’s Disease Dementia (PDD). Neurotox Res;2024 (Jun 6);42(3):28.

Parkinson’s disease with dementia (PDD) is a neurological disorder that clinically and neuropathologically overlaps with Parkinson’s disease (PD) and Alzheimer’s disease (AD). Although it is assumed that alpha-synuclein ( α -Syn), amyloid beta (A β ), and the protein Tau might synergistically induce cholinergic neuronal degeneration, presently the pathological mechanism of PDD remains unclear. Therefore, it is essential to delve into the cellular and molecular aspects of this neurological entity to identify potential targets for prevention and treatment strategies. Cholinergic-like neurons (ChLNs) were exposed to rotenone (ROT, 10 μ M) for 24 h. ROT provokes loss of ΔΨm , generation of reactive oxygen species (ROS), phosphorylation of leucine-rich repeated kinase 2 (LRRK2 at Ser(935)) concomitantly with phosphorylation of α -synuclein ( α -Syn, Ser(129)), induces accumulation of intracellular A β (iA β ), oxidized DJ-1 (Cys(106)), as well as phosphorylation of TAU (Ser(202)/Thr(205)), increases the phosphorylation of c-JUN (Ser(63)/Ser(73)), and increases expression of proapoptotic proteins TP53, PUMA, and cleaved caspase 3 (CC3) in ChLNs. These neuropathological features resemble those reproduced in presenilin 1 (PSEN1) E280A ChLNs. Interestingly, anti-oxidant and anti-amyloid cannabidiol (CBD), JNK inhibitor SP600125 (SP), TP53 inhibitor pifithrin- α (PFT), and LRRK2 kinase inhibitor PF-06447475 (PF475) significantly diminish ROT-induced oxidative stress (OS), proteinaceous, and cell death markers in ChLNs compared to naïve ChLNs. In conclusion, ROT induces p- α -Syn, iA β , p-Tau, and cell death in ChLNs, recapitulating the neuropathology findings in PDD. Our report provides an excellent in vitro model to test for potential therapeutic strategies against PDD. Our data suggest that ROT induces a neuropathologic phenotype in ChLNs similar to that caused by the mutation PSEN1 E280A.

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10. Jia SJ, Jing JQ, Yang CJ. A Review on Autism Spectrum Disorder Screening by Artificial Intelligence Methods. J Autism Dev Disord;2024 (Jun 6)

PURPOSE: With the increasing prevalence of autism spectrum disorders (ASD), the importance of early screening and diagnosis has been subject to considerable discussion. Given the subtle differences between ASD children and typically developing children during the early stages of development, it is imperative to investigate the utilization of automatic recognition methods powered by artificial intelligence. We aim to summarize the research work on this topic and sort out the markers that can be used for identification. METHODS: We searched the papers published in the Web of Science, PubMed, Scopus, Medline, SpringerLink, Wiley Online Library, and EBSCO databases from 1st January 2013 to 13th November 2023, and 43 articles were included. RESULTS: These articles mainly divided recognition markers into five categories: gaze behaviors, facial expressions, motor movements, voice features, and task performance. Based on the above markers, the accuracy of artificial intelligence screening ranged from 62.13 to 100%, the sensitivity ranged from 69.67 to 100%, the specificity ranged from 54 to 100%. CONCLUSION: Therefore, artificial intelligence recognition holds promise as a tool for identifying children with ASD. However, it still needs to continually enhance the screening model and improve accuracy through multimodal screening, thereby facilitating timely intervention and treatment.

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11. Jones CRG, Livingston LA, Fretwell C, Uljarević M, Carrington SJ, Shah P, Leekam SR. Measuring self and informant perspectives of Restricted and Repetitive Behaviours (RRBs): psychometric evaluation of the Repetitive Behaviours Questionnaire-3 (RBQ-3) in adult clinical practice and research settgs. Mol Autism;2024 (Jun 6);15(1):24.

BACKGROUND: Brief questionnaires that comprehensively capture key restricted and repetitive behaviours (RRBs) across different informants have potential to support autism diagnostic services. We tested the psychometric properties of the 20-item Repetitive Behaviours Questionnaire-3 (RBQ-3), a questionnaire that includes self-report and informant-report versions enabling use across the lifespan. METHOD: In Study 1, adults referred to a specialised adult autism diagnostic service (N = 110) completed the RBQ-3 self-report version, and a relative or long-term friend completed the RBQ-3 informant-report version. Clinicians completed the abbreviated version of the Diagnostic Interview for Social and Communication Disorders (DISCO-Abbreviated) with the same adults as part of the diagnostic process. For half of the assessments, clinicians were blind to the RBQ-3 ratings. We tested internal consistency, cross-informant reliability and convergent validity of the RBQ-3. In Study 2, a follow-up online study with autistic (N = 151) and non-autistic (N = 151) adults, we further tested internal consistency of the RBQ-3 self-report version. We also tested group differences and response patterns in this sample. RESULTS: Study 1 showed good to excellent internal consistency for both self- and informant-report versions of the RBQ-3 (total score, α = 0.90, ω = 0.90, subscales, α = 0.76-0.89, ω = 0.77-0.88). Study 1 also showed cross-informant reliability as the RBQ-3 self-report scores significantly correlated with RBQ-3 informant-report scores for the total score (r(s) = 0.71) and subscales (r(s)= 0.69-0.72). Convergent validity was found for both self and informant versions of the RBQ-3, which significantly correlated with DISCO-Abbreviated RRB domain scores (r(s) = 0.45-0.54). Moreover, the RBQ-3 scores showed significantly weaker association with DISCO -Abbreviated scores for the Social Communication domain, demonstrating divergent validity. Importantly, these patterns of validity were found even when clinicians were blind to RBQ-3 items. In Study 2, for both autistic and non-autistic groups, internal consistency was found for the total score (α = 0.82-0.89, ω = 0.81-0.81) and for subscales (α = 0.68-0.85, ω = 0.69-0.85). A group difference was found between groups. LIMITATIONS: Due to the characteristics and scope of the specialist autism diagnostic service, further testing is needed to include representative samples of age (including children) and intellectual ability, and those with a non-autistic diagnostic outcome. CONCLUSIONS: The RBQ-3 is a questionnaire of RRBs that can be used across the lifespan. The current study tested its psychometric properties with autistic adults without intellectual disability and supported its utility for both clinical diagnostic and research settings.

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12. Kosloski EE, Patel SD, Rollins PR. The Role of Pathways Early Autism Intervention in Improving Social Skills and Respeto for Young Hispanic Autistic Children. J Autism Dev Disord;2024 (Jun 6)

PURPOSE: We know very little about Hispanic autistic children’s response to intervention as, historically, Hispanic children are underrepresented in intervention studies. Pathways parent-mediated early autism intervention is one of the few naturalistic developmental behavioral interventions (NDBIs) that is contextually and linguistically responsive to Hispanic families. However, some child-centered NDBI strategies do not align with the Hispanic caregiving value of respeto. A child exhibiting respeto demonstrates affiliative obedience by displaying deference and respect toward adults. Furthermore, theories of the ontogeny of cultural learning suggest that certain levels of social development may be necessary to learn cultural values. The current study investigates (1) the relationship between Hispanic autistic children’s social skills and affiliative obedience and (2) the efficacy of Pathways in improving affiliative obedience in Hispanic children. METHODS: This quasi-experimental design study used preexisting standardized test data and video recordings from 26 Hispanic participants who took part in a previous Pathways efficacy study. Recordings were coded for affiliative obedience and social connectedness. Residual change variables were used to measure progress from baseline to post-intervention, and correlation and hierarchical regression analyses were conducted to analyze the data. RESULTS: We found significant positive correlations between social skills and children’s affiliative obedience for baseline and change variables. In addition, we found Pathways had a significant medium-large magnitude effect on change in affiliative obedience skills. CONCLUSION: This study highlights the benefits of NDBI interventions that advance social development in autistic children and support Hispanic parents in enculturating their children in the value of respeto.

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13. Lee HK, Tong SX. Impaired inhibitory control when processing real but not cartoon emotional faces in autistic children: Evidence from an event-related potential study. Autism Res;2024 (Jun 5)

Impaired socioemotional functioning characterizes autistic children, but does weak inhibition control underlie their socioemotional difficulty? This study addressed this question by examining whether and, if so, how inhibition control is affected by face realism and emotional valence in school-age autistic and neurotypical children. Fifty-two autistic and 52 age-matched neurotypical controls aged 10-12 years completed real and cartoon emotional face Go/Nogo tasks while event-related potentials (ERPs) were recorded. The analyses of inhibition-emotion components (i.e., N2, P3, and LPP) and a face-specific N170 revealed that autistic children elicited greater N2 while inhibiting Nogo trials and greater P3/LPP and late LPP for real but not cartoon emotional faces. Moreover, autistic children exhibited a reduced N170 to real face emotions only. Furthermore, correlation results showed that better behavioral inhibition and emotion recognition in autistic children were associated with a reduced N170. These findings suggest that neural mechanisms of inhibitory control in autistic children are less efficient and more disrupted during real face processing, which may affect their age-appropriate socio-emotional development.

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14. McLellan J, Croen L, Iosif AM, Yoshida C, Ashwood P, Yolken RH, Van de Water J. Altered cytokine and chemokine profile linked to autoantibody and pathogen reactivity in mothers of autistic children. Front Psychiatry;2024;15:1348092.

Maternal autoimmunity, and more specifically, the production of specific maternal autoantibodies, has been associated with altered offspring neurodevelopment. Maternal autoantibody-related (MAR) autism is a subtype of autism that is linked to gestational exposure to certain combinations of autoantibodies to proteins known to be important for fetal neurodevelopment. We wanted to address whether mothers with autism-specific patterns of autoantibodies have a skewed cytokine and chemokine profile during an immune response to infection. To do so, we examined a subset of mothers from the Early Markers for Autism (EMA) study who either produced known patterns of MAR autoantibodies (MAR+) or did not (MAR-). We compared the cytokine/chemokine profiles of MAR+ and MAR- mothers in the context of positive immunoglobulin G (IgG) reactivity to several viral and parasitic agents. We observed that MAR+ mothers have a higher level of proinflammatory cytokine interferon-gamma regardless of IgG status. Additionally, when comparing MAR+ and MAR- mothers in the context of the different pathogens, MAR+ mothers consistently had increases in multiple proinflammatory cytokines and chemokines.

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15. Pyszkowska A. It is More Anxiousness than Role-playing: Social Camouflaging Conceptualization Among Adults on the Autism Spectrum Compared to Persons with Social Anxiety Disorder. J Autism Dev Disord;2024 (Jun 6)

PURPOSE: Autistic individuals consider social camouflaging, e.g., masking autistic traits or social skills compensation, as exhausting and effortful, often leading to diminished well-being or burnout, as well as adaptive for satisfying social interactions. Developing camouflaging may result in isolation, social avoidance, increased self-stigmatization, and misdiagnosis, including social anxiety disorder. The study’s objective was to explore and conceptualize social camouflaging, with a particular focus on social anxiety symptoms, autistic burnout, and public stigma, among autistic individuals, with two comparative samples: with social anxiety disorder (SAD) and dual diagnoses (SAD + ASD). METHODS: 254 individuals participated in the study (including 186 females, 148 with ASD diagnosis). CAT-Q, AQ-10, AASPIRE’s Autistic Burnout Scale, LSAS-SR, The Perceived Public Stigma Scale were used. RESULTS: The findings suggest differences in the interrelation dynamics between the samples studied, with autistic burnout and social anxiety symptoms of essential significance in camouflaging strategies, and autistic traits being of secondary importance. Structural equation models showed that the proposed conceptualization, with camouflaging and autistic burnout as the outcome variables, exhibited acceptable fit, implying that this strategy is costly and may result in exhaustion. CONCLUSION: The total score of camouflaging did not differ between the groups studied, suggesting that a tendency to camouflage is rather transdiagnostic, deriving from anxiousness and negative self-perception, not being autistic per se.

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16. Ren T, Zhang L, Liu Y, Zhang Q, Sun Y, Zhou W, Huang L, Wang M, Pu Y, Huang R, Chen J, He H, Zhu T, Wang S, Chen W, Zhang Q, Du W, Luo Q, Li F. Sex-specific associations of adolescent motherhood with cognitive function, behavioral problems, and autistic-like traits in offspring and the mediating roles of family conflict and altered brain structure. BMC Med;2024 (Jun 5);22(1):226.

BACKGROUND: Previous studies have linked adolescent motherhood to adverse neurodevelopmental outcomes in offspring, yet the sex-specific effect and underlying mechanisms remain unclear. METHODS: This study included 6952 children aged 9-11 from the Adolescent Brain Cognitive Development study. The exposed group consisted of children of mothers < 20 years at the time of birth, while the unexposed group was composed of children of mothers aged 20-35 at birth. We employed a generalized linear mixed model to investigate the associations of adolescent motherhood with cognitive, behavioral, and autistic-like traits in offspring. We applied an inverse-probability-weighted marginal structural model to examine the potential mediating factors including adverse perinatal outcomes, family conflict, and brain structure alterations. RESULTS: Our results revealed that children of adolescent mothers had significantly lower cognitive scores (β, - 2.11, 95% CI, - 2.90 to - 1.31), increased externalizing problems in male offspring (mean ratio, 1.28, 95% CI, 1.08 to 1.52), and elevated internalizing problems (mean ratio, 1.14, 95% CI, 0.99 to 1.33) and autistic-like traits (mean ratio, 1.22, 95% CI, 1.01 to 1.47) in female. A stressful family environment mediated ~ 70% of the association with internalizing problems in females, ~ 30% with autistic-like traits in females, and ~ 20% with externalizing problems in males. Despite observable brain morphometric changes related to adolescent motherhood, these did not act as mediating factors in our analysis, after adjusting for family environment. No elevated rate of adverse perinatal outcomes was observed in the offspring of adolescent mothers in this study. CONCLUSIONS: Our results reveal distinct sex-specific neurodevelopmental outcomes impacts of being born to adolescent mothers, with a substantial mediating effect of family environment on behavioral outcomes. These findings highlight the importance of developing sex-tailored interventions and support the hypothesis that family environment significantly impacts the neurodevelopmental consequences of adolescent motherhood.

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17. Shirley J, John JR, Montgomery A, Whitehouse A, Eapen V. Utilising Behavioural and Sensory Profiles and Associated Perinatal Factors to Identify Meaningful Subgroups in Autism Spectrum Disorder. J Autism Dev Disord;2024 (Jun 6)

The heterogeneity of autism spectrum disorder (ASD) clinically and aetiologically hinders intervention matching and prediction of outcomes. This study investigated if the behavioural, sensory, and perinatal factor profiles of autistic children could be used to identify distinct subgroups. Participants on the autism spectrum aged 2 to 17 years and their families were sourced via the Australian Autism Biobank (AAB). Latent class analysis was used to identify subgroups within this cohort, utilising twenty-six latent variables representing child’s behavioural and sensory features and perinatal factors. Four distinct subgroups within the sample (n = 1168) distinguished by sensory and behavioural autism traits and exposure to perinatal determinants were identified. Class 2 and Class 4, which displayed the greatest behavioural and sensory impairment respectively, were associated with the highest perinatal factor exposure. Class 1, labelled « Most behavioural concerns and moderate sensory and behavioural skills concerns » had mixed exposure to perinatal determinants while Class 3, named « Least sensory and behavioural skills concerns » had the least perinatal determinant exposure, indicating a directly proportional correlation between severity of clinical features and perinatal factor exposure. Additionally, association between specific exposures such as maternal mental illness in Class 1 and significant behavioural concerns was recognised. Identifying distinct subgroups among autistic children can lead to development of targeted interventions and supports. Close monitoring of children exposed to specific perinatal determinants for developmental differences could assist early intervention and supports.

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18. Silva DB, Trinidad M, Ljungdahl A, Revalde JL, Berguig GY, Wallace W, Patrick CS, Bomba L, Arkin M, Dong S, Estrada K, Hutchinson K, LeBowitz JH, Schlessinger A, Johannesen KM, Møller RS, Giacomini KM, Froelich S, Sanders SJ, Wuster A. Haploinsufficiency underlies the neurodevelopmental consequences of SLC6A1 variants. Am J Hum Genet;2024 (Jun 6);111(6):1222-1238.

Heterozygous variants in SLC6A1, encoding the GAT-1 GABA transporter, are associated with seizures, developmental delay, and autism. The majority of affected individuals carry missense variants, many of which are recurrent germline de novo mutations, raising the possibility of gain-of-function or dominant-negative effects. To understand the functional consequences, we performed an in vitro GABA uptake assay for 213 unique variants, including 24 control variants. De novo variants consistently resulted in a decrease in GABA uptake, in keeping with haploinsufficiency underlying all neurodevelopmental phenotypes. Where present, ClinVar pathogenicity reports correlated well with GABA uptake data; the functional data can inform future reports for the remaining 72% of unscored variants. Surface localization was assessed for 86 variants; two-thirds of loss-of-function missense variants prevented GAT-1 from being present on the membrane while GAT-1 was on the surface but with reduced activity for the remaining third. Surprisingly, recurrent de novo missense variants showed moderate loss-of-function effects that reduced GABA uptake with no evidence for dominant-negative or gain-of-function effects. Using linear regression across multiple missense severity scores to extrapolate the functional data to all potential SLC6A1 missense variants, we observe an abundance of GAT-1 residues that are sensitive to substitution. The extent of this missense vulnerability accounts for the clinically observed missense enrichment; overlap with hypermutable CpG sites accounts for the recurrent missense variants. Strategies to increase the expression of the wild-type SLC6A1 allele are likely to be beneficial across neurodevelopmental disorders, though the developmental stage and extent of required rescue remain unknown.

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19. Skaletski EC, Cardona SC, Travers BG. The relation between specific motor skills and daily living skills in autistic children and adolescents. Front Integr Neurosci;2024;18:1334241.

INTRODUCTION: Motor skill difficulties are common in autistic children and are related to daily living skills (DLS). However, it remains unclear which specific motor tasks are most likely to impact overall DLS. This study sought to fill this gap. METHODS AND RESULTS: In 90 autistic children and adolescents (ages 6-17 years), we found that fine/manual motor tasks, like drawing or folding, demonstrated significant medium-sized relations with DLS, even after accounting for IQ and sensory features, whereas tasks in the areas of bilateral coordination, upper-limb coordination, and balance only related to DLS (small effect sizes) prior to accounting for IQ and sensory features. When looking at an overall balance score, we found that IQ significantly interacted on the relation between overall balance and DLS. DISCUSSION: These results further demonstrate the particular importance of fine/manual motor skills for DLS in autistic youth, even when accounting for IQ and sensory features. Indeed, accounting for sensory features strengthened the relations between fine/manual motor skills and DLS. Our findings provide evidence of the impact of cognitive factors on the relation between balance and DLS, indicating that it may be that autistic individuals with lower IQs experience relations between balance and DLS that are different than their peers with higher IQs. Our findings support the benefit of considering individual motor skills rather than domain-level information when assessing ways to promote DLS in autistic youth. The results further shed light on the importance of fine motor skills, as well as the unique relationship of balance and DLS in autistic individuals with lower IQs.

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20. Son G, Oh S, Lee J, Jun S, Kim J, Kim J, Lee J, Han M, Shin J. Trends in behavioral management techniques for dental treatment of patients with autism spectrum disorder: a 10-year retrospective analysis. J Dent Anesth Pain Med;2024 (Jun);24(3):187-193.

BACKGROUND: Patients with autism spectrum disorder (ASD) present challenges in dental treatment cooperation owing to deficits in communication skills and social interaction. Behavioral guidance, sedation, and general anesthesia may be employed to ensure the quality of dental care for individuals with ASD. This study aimed to examine the trends in dental treatment for patients with ASD who visited the Department of Pediatric Dentistry at Dankook University Jukjeon Dental Hospital, an oral health center for the disabled in the Gyeonggi region, over the past 10 years. METHODS: This study utilized the order communication system to gather data on sex, age, cooperation level, number of quadrants treated, and administration of sedation or general anesthesia for patients with ASD who visited the Department of Pediatric Dentistry at Dankook University Jukjeon Dental Hospital between January 2013 and December 2022. RESULTS: The total number of patients with ASD increased annually, possibly due to an increase in ASD prevalence and the hospital’s designation as a center for disabled oral health. General anesthesia was predominant before 2017, with a shift towards N(2)O-O(2) sedation. The most common age group for sedation or general anesthesia was 6-9 years, with a higher prevalence in males than in females. Notably, N(2)O-O(2) and midazolam sedation resulted in better cooperation and fewer treated teeth than general anesthesia. CONCLUSION: This study highlights the evolving trends in dental treatment for individuals with ASD, indicating a shift towards outpatient methods, particularly N(2)O-O(2) sedation. The sex distribution aligns with national statistics, emphasizing a higher prevalence of ASD in males than in females. These findings underscore the need for further research to establish evidence-based guidelines for optimal dental care strategies tailored to the unique needs of individuals with ASD.

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21. Sun L. The investigation of dysregulated visual perceptual organization in adults with autism spectrum disorders with phase-amplitude coupling and directed connectivity. PLoS One;2024;19(6):e0303959.

Phase-amplitude coupling (PAC) has been used as a powerful tool to understand the mechanism underlying neural binding by investigating neural synchrony across different frequency bands. This study examined the possibility that dysregulated alpha-gamma modulation may be crucially involved in aberrant brain functioning in autism spectrum disorder (ASD). Magnetoencephalographic data were recorded from 13 adult participants with ASD and 16 controls. The time-coursed sources averaged over a primary visual area 1 and fusiform gyrus area were reconstructed with the minimum-norm estimate method. The alpha-gamma PAC was further calculated based on these sources. The statistical analysis was implemented based on the PAC and directed asymmetry index. The results showed the hyper-activity coupling for ASD at the no-face condition and revealed the importance of alpha-gamma phase modulation in detecting a face. Our data provides novel evidence for the role of the alpha-gamma PAC and suggests that the globe connectivity may be more critical during visual perception.

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