1. Stefanelli G, Pili MP, Crifaci G, Capelli E, Beretta C, Riboldi EM, Billeci L, Cantiani C, Molteni M, Riva V. Pupillary responses for social versus non-social stimuli in autism: A systematic review and meta-analysis. Neurosci Biobehav Rev;2024 (Sep 3);166:105872.

Pupillometry has gained attention as a valuable tool for assessing autonomic nervous system activity and studying phasic changes in pupil size to comprehend underlying neurocognitive mechanisms. However, knowledge regarding pupillary responses to social processing in autism is limited. We conducted a systematic review and meta-analysis, examining research studies on pupil size changes that compare social and non-social stimuli in autism. Electronic searches were performed for articles up to September 2023 and relevant studies were evaluated following PRISMA guidelines. Out of 284 articles screened, 14 studies were eligible for systematic review. The results indicated that non-autistic individuals showed larger pupil size for social compared to non-social stimuli (g = 0.54; 95 % CI [0.25, 0.82]), whereas autistic individuals seemed to exhibit no differences between the two conditions. However, high heterogeneity was observed between studies in autistic populations, compromising interpretability. Despite such limitations, pupillary responses may constitute an objective physiological marker of social processing in autism. This review emphasizes the need for further investigations into pupillary responses in autism across different life stages.

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2. Salerno C, Allam A, Cirio S, Malerba A, Ionescu AC, Tartaglia GM, Campus G, Cagetti MG. Survival of different caries managements in children with autism and unaffected peers: a retrospective cohort study. Eur J Paediatr Dent;2024 (Sep 3);25(3):214-223.

AIM: Dental caries is a common oral disease in children with special needs such as those with autism spectrum disorders (ASDs). The aim is to assess whether the type and survival of three caries management, conventional resin restorations (CR), ART technique (ART) and SDF application without caries removal (SDF), in primary teeth carried out at the Pediatric Dentistry Department of San Paolo Hospital (University of Milan) differed between children with ASDs and unaffected peers. METHODS: Data from a convenience sample of children with and without ASDs, who have received dental care for caries in primary teeth from January 2019 to June 2022, were analysed. Medical history, age, sex, teeth treated, and type of treatment were collected from dental charts. Data on success and minor and major failures of each treatment were also collected. Two survival analysis were performed, one considering both major and minor failures, a second considering only major failures. Cox Proportional Hazards multivariate logistic models were run to assess factors associated with failures. The statistical significance was set at 5% (p< 0.05). CONCLUSION: In children with autism, the different techniques for approaching caries lesions seem to have the same probability of success. Therefore, the choice of treatment should be patient-oriented rather than lesion-oriented. In unaffected children, the gold standard always seems to be traditional restorative treatment.

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3. Mandelli V, Landi I, Ceccarelli SB, Molteni M, Nobile M, D’Ausilio A, Fadiga L, Crippa A, Lombardo MV. Enhanced motor noise in an autism subtype with poor motor skills. Mol Autism;2024 (Sep 3);15(1):36.

BACKGROUND: Motor difficulties are common in many, but not all, autistic individuals. These difficulties can co-occur with other problems, such as delays in language, intellectual, and adaptive functioning. Biological mechanisms underpinning such difficulties are less well understood. Poor motor skills tend to be more common in individuals carrying highly penetrant rare genetic mutations. Such mechanisms may have downstream consequences of altering neurophysiological excitation-inhibition balance and lead to enhanced behavioral motor noise. METHODS: This study combined publicly available and in-house datasets of autistic (n = 156), typically-developing (TD, n = 149), and developmental coordination disorder (DCD, n = 23) children (age 3-16 years). Autism motor subtypes were identified based on patterns of motor abilities measured from the Movement Assessment Battery for Children 2nd edition. Stability-based relative clustering validation was used to identify autism motor subtypes and evaluate generalization accuracy in held-out data. Autism motor subtypes were tested for differences in motor noise, operationalized as the degree of dissimilarity between repeated motor kinematic trajectories recorded during a simple reach-to-drop task. RESULTS: Relatively ‘high’ (n = 87) versus ‘low’ (n = 69) autism motor subtypes could be detected and which generalize with 89% accuracy in held-out data. The relatively ‘low’ subtype was lower in general intellectual ability and older at age of independent walking, but did not differ in age at first words or autistic traits or symptomatology. Motor noise was considerably higher in the ‘low’ subtype compared to ‘high’ (Cohen’s d = 0.77) or TD children (Cohen’s d = 0.85), but similar between autism ‘high’ and TD children (Cohen’s d = 0.08). Enhanced motor noise in the ‘low’ subtype was also most pronounced during the feedforward phase of reaching actions. LIMITATIONS: The sample size of this work is limited. Future work in larger samples along with independent replication is important. Motor noise was measured only on one specific motor task. Thus, a more comprehensive assessment of motor noise on many other motor tasks is needed. CONCLUSIONS: Autism can be split into at least two discrete motor subtypes that are characterized by differing levels of motor noise. This suggests that autism motor subtypes may be underpinned by different biological mechanisms.

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4. Liu X, Hasan MR, Gedeon T, Hossain MZ. MADE-for-ASD: A multi-atlas deep ensemble network for diagnosing Autism Spectrum Disorder. Comput Biol Med;2024 (Sep 3);182:109083.

In response to the global need for efficient early diagnosis of Autism Spectrum Disorder (ASD), this paper bridges the gap between traditional, time-consuming diagnostic methods and potential automated solutions. We propose a multi-atlas deep ensemble network, MADE-for-ASD, that integrates multiple atlases of the brain’s functional magnetic resonance imaging (fMRI) data through a weighted deep ensemble network. Our approach integrates demographic information into the prediction workflow, which enhances ASD diagnosis performance and offers a more holistic perspective on patient profiling. We experiment with the well-known publicly available ABIDE (Autism Brain Imaging Data Exchange) I dataset, consisting of resting state fMRI data from 17 different laboratories around the globe. Our proposed system achieves 75.20% accuracy on the entire dataset and 96.40% on a specific subset – both surpassing reported ASD diagnosis accuracy in ABIDE I fMRI studies. Specifically, our model improves by 4.4 percentage points over prior works on the same amount of data. The model exhibits a sensitivity of 82.90% and a specificity of 69.70% on the entire dataset, and 91.00% and 99.50%, respectively, on the specific subset. We leverage the F-score to pinpoint the top 10 ROI in ASD diagnosis, such as precuneus and anterior cingulate/ventromedial. The proposed system can potentially pave the way for more cost-effective, efficient and scalable strategies in ASD diagnosis. Codes and evaluations are publicly available at https://github.com/hasan-rakibul/MADE-for-ASD.

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5. Khaliulin I, Hamoudi W, Amal H. The multifaceted role of mitochondria in autism spectrum disorder. Mol Psychiatry;2024 (Sep 2)

Normal brain functioning relies on high aerobic energy production provided by mitochondria. Failure to supply a sufficient amount of energy, seen in different brain disorders, including autism spectrum disorder (ASD), may have a significant negative impact on brain development and support of different brain functions. Mitochondrial dysfunction, manifested in the abnormal activities of the electron transport chain and impaired energy metabolism, greatly contributes to ASD. The aberrant functioning of this organelle is of such high importance that ASD has been proposed as a mitochondrial disease. It should be noted that aerobic energy production is not the only function of the mitochondria. In particular, these organelles are involved in the regulation of Ca(2+) homeostasis, different mechanisms of programmed cell death, autophagy, and reactive oxygen and nitrogen species (ROS and RNS) production. Several syndromes originated from mitochondria-related mutations display ASD phenotype. Abnormalities in Ca(2+) handling and ATP production in the brain mitochondria affect synaptic transmission, plasticity, and synaptic development, contributing to ASD. ROS and Ca(2+) regulate the activity of the mitochondrial permeability transition pore (mPTP). The prolonged opening of this pore affects the redox state of the mitochondria, impairs oxidative phosphorylation, and activates apoptosis, ultimately leading to cell death. A dysregulation between the enhanced mitochondria-related processes of apoptosis and the inhibited autophagy leads to the accumulation of toxic products in the brains of individuals with ASD. Although many mitochondria-related mechanisms still have to be investigated, and whether they are the cause or consequence of this disorder is still unknown, the accumulating data show that the breakdown of any of the mitochondrial functions may contribute to abnormal brain development leading to ASD. In this review, we discuss the multifaceted role of mitochondria in ASD from the various aspects of neuroscience.

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6. Kao T, Michaelcheck C, Ferrera VP, Terrace HS, Jensen G. Transitive inference in a clinical childhood sample with a focus on autism spectrum disorder. Autism Res;2024 (Sep 2)

Transitive inference (TI) has a long history in the study of human development. There have, however, few pediatric studies that report clinical diagnoses have tested trial-and-error TI learning, in which participants infer item relations, rather than evaluate them explicitly from verbal descriptions. Children aged 8-10 underwent a battery of clinical assessments and received a range of diagnoses, potentially including autism spectrum disorder (ASD), attention-deficit hyperactive disorder (ADHD), anxiety disorders (AD), specific learning disorders (SLD), and/or communication disorders (CD). Participants also performed a trial-and-error learning task that tested for TI. Response accuracy and reaction time were assessed using a statistical model that controlled for diagnostic comorbidity at the group level. Participants in all diagnostic categories showed evidence of TI. However, a model comparison analysis suggested that those diagnosed with ASD succeeded in a qualitatively different way, responding more slowly to each choice and improving faster across trials than their non-ASD counterparts. Additionally, TI performance was not associated with IQ. Overall, our data suggest that superficially similar performance levels between ASD and non-ASD participants may have resulted from a difference in the speed-accuracy tradeoff made by each group. Our work provides a preliminary profile of the impact of various clinical diagnoses on TI performance in young children. Of these, an ASD diagnosis resulted in the largest difference in task strategy.

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7. Huang Y, Jia Z, Lu X, Wang Y, Li R, Zhou A, Chen L, Wang Y, Zeng HC, Li P, Ghassabian A, Yuan N, Kong F, Xu S, Liu H. Prenatal Exposure to Per- and Polyfluoroalkyl Substances and ASD-Related Symptoms in Early Childhood: Mediation Role of Steroids. Environ Sci Technol;2024 (Sep 3)

Previous studies regarding the associations between perfluoroalkyl and polyfluoroalkyl substances (PFAS) and autism spectrum disorder (ASD) have yielded inconsistent results, with the underlying mechanisms remaining unknown. In this study, we quantified 13 PFAS in cord serum samples from 396 neonates and followed the children at age 4 to assess ASD-related symptoms. Our findings revealed associations between certain PFAS and ASD-related symptoms, with a doubling of perfluorononanoic acid (PFNA), perfluorodecanoic acid (PFDA), and perfluoroundecanoic acid (PFUnDA) concentrations associated with respective increases of 1.79, 1.62, and 1.45 units in language-related symptoms and PFDA exhibiting an association with higher score of sensory stimuli. Nonlinear associations were observed in the associations of 6:2 chlorinated polyfluorinated ether sulfonate (Cl-PFAES) and 8:2 Cl-PFAES with ASD-related symptoms. Employing weighted quantile sum (WQS) regression, we observed significant mixture effects of multiple PFAS on all domains of ASD-related symptoms, with PFNA emerging as the most substantial contributor. Assuming causality, we found that 39-40% of the estimated effect of long-chain PFAS (PFUnDA and PFDoDA) exposure on sensory stimuli was mediated by androstenedione. This study provides novel epidemiological data about prenatal PFAS mixture exposure and ASD-related symptoms.

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8. Griffin JW, Naples A, Bernier R, Chawarska K, Dawson G, Dziura J, Faja S, Jeste S, Kleinhans N, Sugar C, Webb SJ, Shic F, McPartland JC. Spatiotemporal Eye Movement Dynamics Reveal Altered Face Prioritization in Early Visual Processing Among Autistic Children. Biol Psychiatry Cogn Neurosci Neuroimaging;2024 (Sep 3)

BACKGROUND: Reduced social attention – looking at faces – is one of the most common manifestations of social difficulty in autism central to social development. Although reduced social attention is well-characterized in autism, qualitative differences in how social attention unfolds across time remains unknown. METHODS: We used a computational modeling (i.e., hidden Markov modeling) approach to assess and compare the spatiotemporal dynamics of social attention in a large, well-characterized sample of autistic (n = 280) and neurotypical (n = 120) children (ages 6-11) that completed three social eye-tracking assays across three longitudinal time points (Baseline, 6 weeks, 24 weeks). RESULTS: Our analysis supported the existence of two common eye movement patterns that emerged across three ET assays. A focused pattern was characterized by small face regions of interest, which had high probability of capturing fixations early in visual processing. In contrast, an exploratory pattern was characterized by larger face regions of interest, with lower initial probability of fixation, and more non-social regions of interest. In the context of social perception, autistic children showed significantly more exploratory eye movement patterns than neurotypical children across all social perception assays and all three longitudinal time points. Eye movement patterns were associated with clinical features of autism, including adaptive function, face recognition, and autism symptom severity. CONCLUSIONS: Decreased likelihood of precisely looking to faces early in social visual processing may be an important feature of autism that was associated with autism-related symptomology and may reflect less visual sensitivity to face information.

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9. Garcia-Argibay M, Lundström S, Cortese S, Larsson H. Trends in Body Mass Index Among Individuals With Neurodevelopmental Disorders. JAMA Netw Open;2024 (Sep 3);7(9):e2431543.

IMPORTANCE: Neurodevelopmental disorders (NDDs) such as autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) are increasingly common. Individuals with NDDs have heightened obesity risks, but long-term data on body mass index (BMI) trends over time in this population are lacking. OBJECTIVE: To assess secular BMI changes from 2004 to 2020 among children with NDDs compared with those without NDDs. DESIGN, SETTING, AND PARTICIPANTS: This repeated cross-sectional study used data from the Child and Adolescent Twin Study in Sweden. Children born between January 1, 1992, and December 31, 2010, were screened for neurodevelopmental symptoms using the Autism-Tics, ADHD, and Other Comorbidities inventory between July 2004 and April 2020 when they were 9 or 12 years of age. Data analysis was conducted between September 27, 2023, and January 30, 2024. MAIN OUTCOMES AND MEASURES: BMI percentiles (15th, 50th, and 85th) were modeled using quantile regression and compared between youths with and without NDDs. Secular changes in BMI percentiles over time spanning 2004 to 2020 were evaluated and stratified by NDD subtype. RESULTS: The cohort included 24 969 Swedish twins (12 681 [51%] boys) born between 1992 and 2010, with mean (SD) age of 9 (0.6) years. Of these, 1103 (4%) screened positive for 1 or more NDDs, including ADHD, ASD, and/or learning disability. Results indicated that at the 85th BMI percentile, there was a greater increase in BMI from 2004 to 2020 among youths with NDDs compared with those without NDDs (β for interaction [βint] between NDD status and time, 1.67; 95% CI, 0.39-2.90). The greatest divergence was seen for ASD (βint, 2.12; 95% CI, 1.26-3.70) and learning disability (βint, 1.92; 95% CI, 0.65-3.82). Within the latest cohort (2016-2020), the 85th BMI percentile was 1.99 (95% CI, 1.08-2.89) points higher among children with NDDs compared with those without NDDs. CONCLUSIONS AND RELEVANCE: In this repeated cross-sectional study, at the higher end of the BMI distribution, children with NDDs had significantly greater increases in BMI compared with peers without NDDs over a 16-year period, highlighting an increasing risk of overweight over time in youths with NDDs compared with those without NDDs. Targeted obesity prevention efforts for this high-risk population are needed.

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10. Gagnon EB, Thompson EM, Park LR. Factors Influencing Pediatric Cochlear Implant Use. Am J Audiol;2024 (Sep 3);33(3):953-963.

PURPOSE: Cochlear implant device use, quantified by hearing hours percentage (HHP), is a known variable that impacts pediatric spoken language outcomes. Isolating specific factors that impact HHP could help clinicians intervene to reduce the implications of barriers and amplify the positive facets. The aim of this study is to identify variables that predict HHP in children. METHOD: A retrospective chart review was completed using data collected from 2019 to 2023. Subjects were included if they were under the age of 18 years at the time of data collection and had data logging recorded in the clinical patient database. A mixed-effects model weighed the influence of year of the clinical visit (2019, 2020, 2021, 2022, and 2023), race/ethnicity (White, African American, Asian, Hispanic, Mixed Race, or Other), listener type (bilateral simultaneous, sequential, bimodal, unilateral hearing loss, or unilateral listener; one cochlear implant and a contralateral deaf ear), insurance type (private, Medicaid, or military, or none), age at surgery, presence of autism spectrum disorder (ASD) or an intellectual development delay (IDD), and age at test on HHP. RESULTS: There were a total of 5,106 data points from 958 subjects. The mean HHP of the cohort was 64.2% (SD = 26.94%). Lower HHP was associated with the presence of IDD or ASD, use of Medicaid, and older age at surgery. HHP increased with age. Subjects of color did not have a significantly different HHP than those who were White. There was an interaction between year of data collection and listener type. Each listener type’s HHP was impacted differently by the year of data collection; however, years of the COVID-19 pandemic yielded lower HHP for all listener types. CONCLUSIONS: The group mean of 64.9% is lower than the recommended 80% HHP goal, indicating that pediatric cochlear implant recipients have slightly more than half the access to sound as their age-matched typically hearing peers. Several variables that impact HHP were identified in this study. Cochlear implant teams can utilize these data to support vulnerable patients to increase HHP. Additional investigation is needed to determine what interventions most effectively improve HHP.

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11. Ferraguto C, Piquemal-Lagoueillat M, Lemaire V, Moreau MM, Trazzi S, Uguagliati B, Ciani E, Bertrand SS, Louette E, Bontempi B, Pietropaolo S. Therapeutic efficacy of the BKCa channel opener chlorzoxazone in a mouse model of Fragile X syndrome. Neuropsychopharmacology;2024 (Sep 2)

Fragile X syndrome (FXS) is an X-linked neurodevelopmental disorder characterized by several behavioral abnormalities, including hyperactivity, anxiety, sensory hyper-responsiveness, and autistic-like symptoms such as social deficits. Despite considerable efforts, effective pharmacological treatments are still lacking, prompting the need for exploring the therapeutic value of existing drugs beyond their original approved use. One such repurposed drug is chlorzoxazone which is classified as a large-conductance calcium-dependent potassium (BKCa) channel opener. Reduced BKCa channel functionality has been reported in FXS patients, suggesting that molecules activating these channels could serve as promising treatments for this syndrome. Here, we sought to characterize the therapeutic potential of chlorzoxazone using the Fmr1-KO mouse model of FXS which recapitulates the main phenotypes of FXS, including BKCa channel alterations. Chlorzoxazone, administered either acutely or chronically, rescued hyperactivity and acoustic hyper-responsiveness as well as impaired social interactions exhibited by Fmr1-KO mice. Chlorzoxazone was more efficacious in alleviating these phenotypes than gaboxadol and metformin, two repurposed treatments for FXS that do not target BKCa channels. Systemic administration of chlorzoxazone modulated the neuronal activity-dependent gene c-fos in selected brain areas of Fmr1-KO mice, corrected aberrant hippocampal dendritic spines, and was able to rescue impaired BKCa currents recorded from hippocampal and cortical neurons of these mutants. Collectively, these findings provide further preclinical support for BKCa channels as a valuable therapeutic target for treating FXS and encourage the repurposing of chlorzoxazone for clinical applications in FXS and other related neurodevelopmental diseases.

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12. Duque-Cartagena T, Dalla MDB, Mundstock E, Neto FK, Espinoza SAR, de Moura SK, Zanirati G, Padoin AV, Jimenez JGP, Stein AT, Cañon-Montañez W, Mattiello R. Environmental pollutants as risk factors for autism spectrum disorders: a systematic review and meta-analysis of cohort studies. BMC Public Health;2024 (Sep 3);24(1):2388.

BACKGROUND: Autism Spectrum Disorder (ASD) is a lifelong neurodevelopmental condition affecting communication, social interaction, and behavior. Evidence suggests that environmental pollutants are associated with ASD incidence. This review aimed to analyze the effect of environmental pollutants on ASD. METHODS: Systematic review and meta-analysis of cohort studies evaluated the association between exposure to environmental pollutants and ASD. We searched COCHRANE CENTRAL, MEDLINE, CINAHL, LILACS, EMBASE, PsycINFO, Web of Science, SciELO, and gray literature from inception to January 2023. The model used for meta-analysis was inverse variance heterogeneity (IVhet). The effect measures were the beta coefficient (β) and the relative risk (RR) with their 95% confidence intervals (95% CI). Sensitivity analyses were carried out using an instrument to screen or diagnose autism. RESULTS: A total of 5,780 studies were identified; 27 were included in the systematic review, and 22 were included in the meta-analysis. These studies included 1,289,183 participants and 129 environmental pollutants. Individual meta-analyses found a significant association between nitrogen dioxide RR = 1.20 (95% CI: 1.03 to 1.38; I(2): 91%), copper RR = 1.08 (95% CI: 1.03 to 1.13; I(2): 0%), mono-3-carboxy propyl phthalate β = 0.45 (95% CI: 0.20 to 0.70; I(2): 0%), monobutyl phthalate β = 0.43 (95% CI: 0.13 to 0.73; I(2): 0%) and polychlorinated biphenyl (PCB) 138 RR = 1.84 (95% CI: 1.14 to 2.96; I(2):0%) with ASD. Subgroup meta-analyses found a significant association with carbon monoxide RR = 1.57 (95% CI: 1.25 to 1.97; I(2): 0%), nitrogen oxides RR = 1.09 (95% CI: 1.04 to 1.15; I(2): 34%) and metals RR = 1.13 (95% CI: 1.01 to 1.27; I(2):24%). CONCLUSION: This study found positive associations nitrogen dioxide, copper, mono-3-carboxypropyl phthalate, monobutyl phthalate, and PCB 138, and the development of ASD, likewise, with subgroups of pollutants carbon monoxide, nitrogen oxides, and metals. Therefore, it is important to identify these risk factors in children and adolescents to contribute to ASD and identify prevention strategies effectively.

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13. Davis NO, Lerebours R, Aiello RE, Carpenter KLH, Compton S, Franz L, Kollins SH, Sabatos-DeVito M, Spanos M, Dawson G. Behavioral characteristics of toddlers later identified with an autism diagnosis, ADHD symptoms, or combined autism and ADHD symptoms. J Child Psychol Psychiatry;2024 (Sep 3)

BACKGROUND: Autism commonly co-occurs with attention-deficit/hyperactivity disorder (ADHD), but less is known regarding how ADHD symptoms impact the early presentation of autism. This study examined early behavioral characteristics of a community sample of toddlers later identified with autism diagnosis, ADHD symptoms, combined autism and ADHD symptoms, or neither condition. METHODS: Participants were 506 toddlers who were part of a longitudinal study of children’s behavioral development. Parents completed questionnaires about their children’s behavior at two time points. Four groups were identified based on study measures or medical record: autism diagnosis (n = 45), elevated ADHD symptoms (n = 70), autism and ADHD symptoms (n = 30), or neurotypical development (n = 361). Relationships between early parent report of autism- and ADHD-related behaviors, social-emotional and behavioral functioning, and caregiver experience and subsequent group designation were evaluated with adjusted linear regression models controlling for sex. RESULTS: Significant group differences were found in measures of autism-related behaviors, ADHD-related behaviors, externalizing and internalizing behaviors, and parent support needs (p < .0001). Pairwise comparisons indicated toddlers later identified with combined autism diagnosis and ADHD symptoms had higher levels of autism-related behaviors, externalizing and internalizing behaviors, and autism-related parent support needs compared to the other groups. Toddlers with subsequent elevated ADHD symptoms or combined autism diagnosis and ADHD symptoms exhibited similar levels of ADHD-related behaviors, while both groups displayed more ADHD-related behaviors than toddlers subsequently identified with autism or those with neither condition. CONCLUSIONS: In this community sample, toddlers for whom combined autism diagnosis and ADHD symptoms were subsequently identified showed a distinct presentation characterized by higher early autism-related behaviors, broader behavioral concerns, and higher parent support needs. Presence of ADHD symptoms (alone or in combination with autism) was associated with higher parent-reported ADHD-related behaviors during toddlerhood. Results indicate that ADHD-related behaviors are manifest by toddlerhood, supporting screening for both autism and ADHD during early childhood.

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14. Brauer B, Ancatén-González C, Ahumada-Marchant C, Meza RC, Merino-Veliz N, Nardocci G, Varela-Nallar L, Arriagada G, Chávez AE, Bustos FJ. Impact of KDM6B mosaic brain knockout on synaptic function and behavior. Sci Rep;2024 (Sep 2);14(1):20416.

Autism spectrum disorders (ASD) are complex neurodevelopmental conditions characterized by impairments in social communication, repetitive behaviors, and restricted interests. Epigenetic modifications serve as critical regulators of gene expression playing a crucial role in controlling brain function and behavior. Lysine (K)-specific demethylase 6B (KDM6B), a stress-inducible H3K27me3 demethylase, has emerged as one of the highest ASD risk genes, but the precise effects of KDM6B mutations on neuronal activity and behavioral function remain elusive. Here we show the impact of KDM6B mosaic brain knockout on the manifestation of different autistic-like phenotypes including repetitive behaviors, social interaction, and significant cognitive deficits. Moreover, KDM6B mosaic knockout display abnormalities in hippocampal excitatory synaptic transmission decreasing NMDA receptor mediated synaptic transmission and plasticity. Understanding the intricate interplay between epigenetic modifications and neuronal function may provide novel insights into the pathophysiology of ASD and potentially inform the development of targeted therapeutic interventions.

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15. Baruah R. Autism in ICU. J Intensive Care Soc;2024 (Aug);25(3):319-325.

Autism is a lifelong neurodevelopmental condition. Autistic people face challenges as patients in the intensive care unit (ICU) and as providers of healthcare in the ICU. This article describes the experience of autistic people using a neurodiversity-affirming approach. Using the ‘Autistic SPACE’ framework, the needs of autistic people are described in terms of sensory needs, need for predictability, need for autistic acceptance, communication differences and how to approach them, and the benefits of a person-centred empathy-based approach to autistic people. The approach to autistic patients is described in terms of reasonable adjustments within a framework of positive risk taking. For supervisors and managers of autistic healthcare professionals, autism-friendly adjustments to training and working practice, with rationales, are suggested.

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16. Arora A, Mastropasqua F, Bölte S, Tammimies K. Urine metabolomic profiles of autism and autistic traits-A twin study. PLoS One;2024;19(9):e0308224.

Currently, there are no reliable biomarkers for autism diagnosis. The heterogeneity of autism and several co-occurring conditions are key challenges to establishing these. Here, we used untargeted mass spectrometry-based urine metabolomics to investigate metabolic differences for autism diagnosis and autistic traits in a well-characterized twin cohort (N = 105). We identified 208 metabolites in the urine samples of the twins. No clear, significant metabolic drivers for autism diagnosis were detected when controlling for other neurodevelopmental conditions. However, we identified nominally significant changes for several metabolites. For instance, phenylpyruvate (p = 0.019) and taurine (p = 0.032) were elevated in the autism group, while carnitine (p = 0.047) was reduced. We furthermore accounted for the shared factors, such as genetics within the twin pairs, and report additional metabolite differences. Based on the nominally significant metabolites for autism diagnosis, the arginine and proline metabolism pathway (p = 0.024) was enriched. We also investigated the association between quantitative autistic traits, as measured by the Social Responsiveness Scale 2nd Edition, and metabolite differences, identifying a greater number of nominally significant metabolites and pathways. A significant positive association between indole-3-acetate and autistic traits was observed within the twin pairs (adjusted p = 0.031). The utility of urine biomarkers in autism, therefore, remains unclear, with mixed findings from different study populations.

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17. Anderer S. One in 5 Children Have Autism If Older Sibling Does Too. Jama;2024 (Sep 3);332(9):697.

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18. Ahmadian P, Cardy RE, De Luca G, Kushki A. Usability of an augmented reality bedtime routine application for autistic children. Assist Technol;2024 (Sep 3):1-10.

Sleep problems are highly prevalent in autism and negatively impact the physical and mental health of children and their caregivers. Sleep education programs are often recommended as a first line-treatment to help parents implement healthy sleeping habits and a bedtime routine at home; however, the accompanying paper-based toolkits used in the bedtime routines have limitations related to engagement and adherence. To address these gaps, we iteratively developed and tested the usability of an augmented reality (AR) bedtime routine application. Our single participant design study (n = 7 child/parent dyads) found 86% compliance with the program and suggested good-excellent usability of the app with a trend toward increased willingness and faster completion of children’s bedtime routines. This work supports the feasibility of using technology-based tools in sleep education programs and informs future clinical studies examining the effectiveness of these approaches for mitigating sleep difficulties.

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19. Abbey A. Levelling up, with autism in mind. J Intensive Care Soc;2024 (Aug);25(3):253-254.

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