1. Bilgeç N, Balasar Ö, Uzun N, Pekcan S, Bedel FM, Çaksen H. Case of twin achondroplasia and autism coexistence and literature review. Psychiatric genetics. 2023.

Achondroplasia and autism spectrum disorder (ASD) are two genetically based disorders. The coexistence of autism with Down syndrome and microdeletion syndromes helps to shed light on the genetic basis of ASD. The association between ASD and achondroplasia has been reported twice in the literature. In this article, we report Turkish patients who were born as identical twins from IVF pregnancy of 34 and 36-year-old parents, clinically and molecularly diagnosed with achondroplasia, and diagnosed with ASD at the age of 39 months. Our case is the first twin patient with the coexistence of achondroplasia and autism. We discuss environmental and genetic factors contributing to the development of ASD.

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2. Chan DV, Doran JD. Mental health counseling is rated as most helpful by autistic adults: Service perspectives in adulthood. Autism : the international journal of research and practice. 2023: 13623613231197446.

The number of autistic adults is growing, but there are fewer services to support them in adulthood. Many autistic adults need some support services to lead successful adult lives. We know a lot about the services autistic adults use and some of the problems with using these services, but we do not know which services are most helpful to them and how the services they use relate to how they interact with their communities. Forty autistic adults took part in a study about service use and community participation. They completed surveys, interviews, and carried a global positioning system tracker. They answered questions about which services are most helpful in adulthood, things that make it hard to use services, and what services they needed. Most participants used two services in the past 2 years, most frequently mental health and employment services. Adults who were currently seeing a mental health counselor were more likely to be working full-time and visit more locations in the community compared to those who were not seeing a counselor. Mental health services were reported as the most helpful service they received as adults, followed by employment services. We often focus on the importance of employment services after high school, but our findings show a need for both mental health and employment services for autistic adults.

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3. De Felice S, Hatilova A, Trojan F, Tsui I, Hamilton AFC. Autistic adults benefit from and enjoy learning via social interaction as much as neurotypical adults do. Molecular autism. 2023; 14(1): 33.

BACKGROUND: Autistic people show poor processing of social signals (i.e. about the social world). But how do they learn via social interaction? METHODS: 68 neurotypical adults and 60 autistic adults learned about obscure items (e.g. exotic animals) over Zoom (i) in a live video-call with the teacher, (ii) from a recorded learner-teacher interaction video and (iii) from a recorded teacher-alone video. Data were analysed via analysis of variance and multi-level regression models. RESULTS: Live teaching provided the most optimal learning condition, with no difference between groups. Enjoyment was the strongest predictor of learning: both groups enjoyed the live interaction significantly more than other condition and reported similar anxiety levels across conditions. LIMITATIONS: Some of the autistic participants were self-diagnosed-however, further analysis where these participants were excluded showed the same results. Recruiting participants over online platforms may have introduced bias in our sample. Future work should investigate learning in social contexts via diverse sources (e.g. schools). CONCLUSIONS: These findings advocate for a distinction between learning about the social versus learning via the social: cognitive models of autism should be revisited to consider social interaction not just as a puzzle to decode but rather a medium through which people, including neuro-diverse groups, learn about the world around them. Trial registration Part of this work has been pre-registered before data collection https://doi.org/10.17605/OSF.IO/5PGA3.

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4. Fan X, Kolodny T, Woodard KM, Tasevac A, Ganz WR, Rea HM, Kurtz-Nelson EC, Webb SJ, Murray SO. Rhythmic attentional sampling in autism. Autism research : official journal of the International Society for Autism Research. 2023.

Individuals diagnosed with autism often display alterations in visual spatial attention toward visual stimuli, but the underlying cause of these differences remains unclear. Recent evidence has demonstrated that covert spatial attention, rather than remaining constant at a cued location, samples stimuli rhythmically at a frequency of 4-8 Hz (theta). Here we tested whether rhythmic sampling of attention is altered in autism. Participants were asked to monitor three locations to detect a brief target presented 300-1200 ms after a spatial cue. Visual attention was oriented to the cue and modified visual processing at the cued location, consistent with previous studies. We measured detection performance at different cue-target intervals when the target occurred at the cued location. Significant oscillations in detection performance were identified using both a traditional time-shuffled approach and a new autoregressive surrogate method developed by Brookshire in 2022. We found that attention enhances behavioral performance rhythmically at the same frequency in both autism and control group at the cued location. However, rhythmic temporal structure was not observed in a subgroup of autistic individuals with co-occurring attention-deficit/hyperactivity disorder (ADHD). Our results imply that intrinsic brain rhythms which organize neural activity into alternating attentional states is functional in autistic individuals, but may be altered in autistic participants who have a concurrent ADHD diagnosis.

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5. Fithall K, Gray IE, Linardon J, Phillipou A, Donaldson PH, Albein-Urios N, Enticott PG, Fuller-Tyszkiewicz M, Kirkovski M. Exploring the role of autistic traits and eating disorder psychopathology on mentalising ability in the general population. BMC psychology. 2023; 11(1): 269.

BACKGROUND: This study evaluated the role of overlapping traits and characteristics related to autism spectrum disorder (autism) and anorexia nervosa (AN) in the general population, and the impact of these traits on mentalising ability. METHODS: A sample of young adults (N = 306), aged 18-25 years, was recruited to complete an online study that consisted of 4 measures: the Autism-Spectrum Quotient, Eating Disorder Examination Questionnaire, the Mentalization Scale, and the Reading the Mind in the Eyes task. RESULTS: Higher levels of autistic traits, particularly difficulty with attention switching, were associated with increased eating disorder psychopathology. Overall, autistic traits and eating disorder psychopathology were related among females, but not males. Difficulty with attention switching, however, was related to eating disorder psychopathology among both females and males. Autistic traits also appear to have a greater role in mentalising ability than does eating disorder psychopathology. CONCLUSION: The role of attention switching in overlapping traits of autism and eating disorder psychopathology needs to be more comprehensively evaluated by future research, as does the role of biological sex. Expanded knowledge in this field will help to better understand and evaluate symptoms at presentation, leading to clearer diagnoses and potentially better treatment outcomes.

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6. George FSA, Sam LE, Tanwar M, Wall L. Association of autism spectrum disorder with Waardenburg syndrome in a toddler. BMJ case reports. 2023; 16(9).

Waardenburg syndrome is a rare genetic condition with an incidence of 1 in 212 000. The condition is classically associated with distinctive facial features, congenital hearing loss and pigmentary changes of the hair, iris and skin. There is a paucity of literature about the association of neurodevelopmental conditions with this syndrome. We present a toddler with Waardenburg syndrome type 1 who was referred to our service for developmental delay concerns. The child was diagnosed with the condition at birth, had distinctive facial features, but the hearing was normal. The child’s father also shares a similar mutation. Following a multidisciplinary assessment, the child was diagnosed to have autism spectrum disorder with possible regression. We acknowledge that there may not be a causal relationship between autism spectrum and Waardenburg syndrome. However, this highlights the need for developmental surveillance among children diagnosed with Waardenburg syndrome and to consider its association with neurodevelopmental conditions.

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7. Hesse LG, Smilyanski I, Boyd LD, Vineyard J. Effect of dental hygienists’ self-efficacy on intention to provide dental care to autistic individuals. Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry. 2023.

AIMS: The study aimed to investigate the influence of dental hygiene providers’ self-efficacy and the factors affecting self-efficacy on their intent to provide care for autistic individuals. METHODS AND RESULTS: A cross-sectional survey was conducted using a nonprobability sample of dental hygienists (n = 1075), yielding a completion rate of 70.6%. The survey included validated measures to assess participants’ demographics, autism training and experience, autism knowledge, self-efficacy, environmental factors, and intention to treat the autistic population. Participants’ self-efficacy scores (r = 0.416; p < .001) and support from dental offices (r = [0.174; 0.465]; p < .001) had the greatest influence on intent. Clinicians who had more experience treating (r = 0.280; p = .005) and received more hours of training/education on treating autistic patients (r = 0.344; p < .001) showed a stronger inclination to provide care to this population. Notably, autism knowledge had a weaker impact on intent when compared to self-efficacy and training/education. CONCLUSION: Autism-focused education and training have a positive effect on provider self-efficacy when caring for autistic individuals. Increased emphasis on such interventions is necessary at all levels of dental hygiene education. The findings from this study can help overcome barriers to preventive dental care for the autistic community.

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8. Jia Q, Li H, Wang M, Wei C, Xu L, Ye L, Wang C, Ke S, Li L, Yao P. Transcript levels of 4 genes in umbilical cord blood are predictive of later autism development: a longitudinal follow-up study. Journal of psychiatry & neuroscience : JPN. 2023; 48(5): E334-e44.

BACKGROUND: Over recent decades, autism spectrum disorder (ASD) has been of increasing epidemiological importance, given the substantial increase in its prevalence; at present, clinical diagnosis is possible only after 2 years of age. In this study, we sought to develop a potential predictive model for ASD screening. METHODS: We conducted a longitudinal follow-up study of newborns over 3 years. We measured transcript levels of 4 genes (superoxide dismutase-2 [SOD2], retinoic acid-related orphan receptor-α [RORA], G protein-coupled estrogen receptor-1 [GPER], progesterone receptor [PGR]), 2 oxidative stress markers and epigenetic marks at the RORA promoter in case-control umbilical cord blood mononuclear cell (UCBMC) samples. RESULTS: We followed 2623 newborns; we identified 41 children with ASD, 63 with delayed development and 2519 typically developing children. We matched the 41 children with ASD to 41 typically developing children for UCBMC measurements. Our results showed that children with ASD had significantly higher levels of H3K9me3 histone modifications at the RORA promoter and oxidative stress in UCBMC than typically developing children; children with delayed development showed no significant differences. Children with ASD had significantly lower expression of SOD2, RORA and GPER, but higher PGR expression than typically developing children. We established a model based on these 4 candidate genes, and achieved an area under the curve of 87.0% (standard deviation 3.9%) with a sensitivity of 1.000 and specificity of 0.854 to predict ASD in UCBMC. LIMITATIONS: Although the gene combinations produced a good pass/fail cut-off value for ASD evaluation, relatively few children in our study sample had ASD. CONCLUSION: The altered gene expression in UCBMC can predict later autism development, possibly providing a predictive model for ASD screening immediately after birth.

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9. Jourdon A, Wu F, Mariani J, Capauto D, Norton S, Tomasini L, Amiri A, Suvakov M, Schreiner JD, Jang Y, Panda A, Nguyen CK, Cummings EM, Han G, Powell K, Szekely A, McPartland JC, Pelphrey K, Chawarska K, Ventola P, Abyzov A, Vaccarino FM. Author Correction: Modeling idiopathic autism in forebrain organoids reveals an imbalance of excitatory cortical neuron subtypes during early neurogenesis. Nature neuroscience. 2023.

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10. Kissine M, Saint-Denis A, Mottron L. Language acquisition can be truly atypical in autism: Beyond joint attention. Neuroscience and biobehavioral reviews. 2023; 153: 105384.

Language profiles in autism are variable and atypical, with frequent speech onset delays, but also, in some cases, unusually steep growth of structural language skills. Joint attention is often seen as a major predictor of language in autism, even though low joint attention is a core characteristic of autism, independent of language levels. In this systematic review of 71 studies, we ask whether, in autism, joint attention predicts advanced or only early language skills, and whether it may be independent of language outcomes. We consider only conservative estimates, and flag studies that include heterogenous samples or no control for non-verbal cognition. Our review suggests that joint attention plays a pivotal role for the emergence of language, but is also consistent with the idea that some autistic children may acquire language independently of joint attention skills. We propose that language in autism should not necessarily be modelled as a quantitative or chronological deviation from typical language development, and outline directions to bring autistic individuals’ atypicality within the focus of scientific inquiry.

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11. Li X, Shen A, Zhao Y, Xia J. Mendelian Randomization Using the Druggable Genome Reveals Genetically Supported Drug Targets for Psychiatric Disorders. Schizophrenia bulletin. 2023; 49(5): 1305-15.

BACKGROUND AND HYPOTHESIS: Psychiatric disorders impose a huge health and economic burden on modern society. However, there is currently no proven completely effective treatment available, partly owing to the inefficiency of drug target identification and validation. We aim to identify therapeutic targets relevant to psychiatric disorders by conducting Mendelian randomization (MR) analysis. STUDY DESIGN: We performed genome-wide MR analysis by integrating expression quantitative trait loci (eQTL) of 4479 actionable genes that encode druggable proteins and genetic summary statistics from genome-wide association studies of psychiatric disorders. After conducting colocalization analysis on the brain MR findings, we employed protein quantitative trait loci (pQTL) data as genetic proposed instruments for intersecting the colocalized genes to provide further genetic evidence. STUDY RESULTS: By performing MR and colocalization analysis with eQTL genetic instruments, we obtained 31 promising drug targets for psychiatric disorders, including 21 significant genes for schizophrenia, 7 for bipolar disorder, 2 for depression, 1 for attention deficit and hyperactivity (ADHD) and none for autism spectrum disorder. Combining MR results using pQTL genetic instruments, we finally proposed 8 drug-targeting genes supported by the strongest MR evidence, including gene ACE, BTN3A3, HAPLN4, MAPK3 and NEK4 for schizophrenia, gene NEK4 and HAPLN4 for bipolar disorder, and gene TIE1 for ADHD. CONCLUSIONS: Our findings with genetic support were more likely to be to succeed in clinical trials. In addition, our study prioritizes approved drug targets for the development of new therapies and provides critical drug reuse opportunities for psychiatric disorders.

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12. Ling W, Ren Z, Wang W, Lu D, Zhou Q, Liu Q, Jiang G. Chronic Ambient Ozone Exposure Aggravates Autism-Like Symptoms in a Susceptible Mouse Model. Environmental science & technology. 2023.

Although there is evidence that exposure to ground-level ozone (O(3)) may cause an increased risk of neurological disorders (e.g., autistic spectrum disorder), low-dose chronic ozone exposure and its adverse effects on the nervous system have not been fully understood. Here, we evaluated the potential neurotoxic effects of long-term exposure to environmentally relevant O(3) concentration (200 μg/m(3) via a whole-body inhalation system, 12 h/day for 5 days/week) using a susceptible mouse model of autism induced by valproic acid. Various indicators of oxidative stress, mitochondria, and synapse in the brain tissues were then measured to determine the overall damage of O(3) to the mouse brain. The results showed an aggravated risk of autism in mice offspring, which was embodied in decreased antioxidant contents, disturbed energy generation in mitochondria, as well as reduced expressions of protein kinase Mζ (PKMζ) and synaptic proteins [e.g., Synapsin 1 (SYN 1), postsynaptic density protein-95 (PSD-95)]. Overall, our study indicates that prenatal exposure to environmentally relevant O(3) may exacerbate the symptoms of autism, shedding light on possible molecular mechanisms and providing valuable insights into the pathogenesis of autism, especially concerning low-dose levels of those pollutants.

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13. Lowther C, Valkanas E, Giordano JL, Wang HZ, Currall BB, O’Keefe K, Pierce-Hoffman E, Kurtas NE, Whelan CW, Hao SP, Weisburd B, Jalili V, Fu J, Wong I, Collins RL, Zhao X, Austin-Tse CA, Evangelista E, Lemire G, Aggarwal VS, Lucente D, Gauthier LD, Tolonen C, Sahakian N, Stevens C, An JY, Dong S, Norton ME, MacKenzie TC, Devlin B, Gilmore K, Powell BC, Brandt A, Vetrini F, DiVito M, Sanders SJ, MacArthur DG, Hodge JC, O’Donnell-Luria A, Rehm HL, Vora NL, Levy B, Brand H, Wapner RJ, Talkowski ME. Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies. American journal of human genetics. 2023; 110(9): 1454-69.

Short-read genome sequencing (GS) holds the promise of becoming the primary diagnostic approach for the assessment of autism spectrum disorder (ASD) and fetal structural anomalies (FSAs). However, few studies have comprehensively evaluated its performance against current standard-of-care diagnostic tests: karyotype, chromosomal microarray (CMA), and exome sequencing (ES). To assess the clinical utility of GS, we compared its diagnostic yield against these three tests in 1,612 quartet families including an individual with ASD and in 295 prenatal families. Our GS analytic framework identified a diagnostic variant in 7.8% of ASD probands, almost 2-fold more than CMA (4.3%) and 3-fold more than ES (2.7%). However, when we systematically captured copy-number variants (CNVs) from the exome data, the diagnostic yield of ES (7.4%) was brought much closer to, but did not surpass, GS. Similarly, we estimated that GS could achieve an overall diagnostic yield of 46.1% in unselected FSAs, representing a 17.2% increased yield over karyotype, 14.1% over CMA, and 4.1% over ES with CNV calling or 36.1% increase without CNV discovery. Overall, GS provided an added diagnostic yield of 0.4% and 0.8% beyond the combination of all three standard-of-care tests in ASD and FSAs, respectively. This corresponded to nine GS unique diagnostic variants, including sequence variants in exons not captured by ES, structural variants (SVs) inaccessible to existing standard-of-care tests, and SVs where the resolution of GS changed variant classification. Overall, this large-scale evaluation demonstrated that GS significantly outperforms each individual standard-of-care test while also outperforming the combination of all three tests, thus warranting consideration as the first-tier diagnostic approach for the assessment of ASD and FSAs.

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14. Matsushima T, Miura M, Patzke N, Toji N, Wada K, Ogura Y, Homma KJ, Sgadò P, Vallortigara G. Fetal blockade of nicotinic acetylcholine transmission causes autism-like impairment of biological motion preference in the neonatal chick. Cerebral cortex communications. 2022; 3(4): tgac041.

Several environmental chemicals are suspected risk factors for autism spectrum disorder (ASD), including valproic acid (VPA) and pesticides acting on nicotinic acetylcholine receptors (nAChRs), if administered during pregnancy. However, their target processes in fetal neuro-development are unknown. We report that the injection of VPA into the fetus impaired imprinting to an artificial object in neonatal chicks, while a predisposed preference for biological motion (BM) remained intact. Blockade of nAChRs acted oppositely, sparing imprinting and impairing BM preference. Beside ketamine and tubocurarine, significant effects of imidacloprid (a neonicotinoid insecticide) appeared at a dose ≤1 ppm. In accord with the behavioral dissociations, VPA enhanced histone acetylation in the primary cell culture of fetal telencephalon, whereas ketamine did not. VPA reduced the brain weight and the ratio of NeuN-positive cells (matured neurons) in the telencephalon of hatchlings, whereas ketamine/tubocurarine did not. Despite the distinct underlying mechanisms, both VPA and nAChR blockade similarly impaired imprinting to biological image composed of point-light animations. Furthermore, both impairments were abolished by postnatal bumetanide treatment, suggesting a common pathology underlying the social attachment malformation. Neurotransmission via nAChR is thus critical for the early social bond formation, which is hindered by ambient neonicotinoids through impaired visual predispositions for animate objects.

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15. Mayor Torres JM, Medina-DeVilliers S, Clarkson T, Lerner MD, Riccardi G. Evaluation of interpretability for deep learning algorithms in EEG emotion recognition: A case study in autism. Artificial intelligence in medicine. 2023; 143: 102545.

Current models on Explainable Artificial Intelligence (XAI) have shown a lack of reliability when evaluating feature-relevance for deep neural biomarker classifiers. The inclusion of reliable saliency-maps for obtaining trustworthy and interpretable neural activity is still insufficiently mature for practical applications. These limitations impede the development of clinical applications of Deep Learning. To address, these limitations we propose the RemOve-And-Retrain (ROAR) algorithm which supports the recovery of highly relevant features from any pre-trained deep neural network. In this study we evaluated the ROAR methodology and algorithm for the Face Emotion Recognition (FER) task, which is clinically applicable in the study of Autism Spectrum Disorder (ASD). We trained a Convolutional Neural Network (CNN) from electroencephalography (EEG) signals and assessed the relevance of FER-elicited EEG features from individuals diagnosed with and without ASD. Specifically, we compared the ROAR reliability from well-known relevance maps such as Layer-Wise Relevance Propagation, PatternNet, Pattern-Attribution, and Smooth-Grad Squared. This study is the first to bridge previous neuroscience and ASD research findings to feature-relevance calculation for EEG-based emotion recognition with CNN in typically-development (TD) and in ASD individuals.

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16. Nyrenius J, Waern M, Eberhard J, Ghaziuddin M, Gillberg C, Billstedt E. Autism in adult psychiatric out-patients: self-reported suicidal ideation, suicide attempts and non-suicidal self-injury. BJPsych open. 2023; 9(5): e167.

BACKGROUND: The prevalence of self-reported suicidal ideation, suicide attempts and non-suicidal self-injury (NSSI) remains unclear among adults with autism unrecognised in childhood who attend psychiatric services. AIMS: We aimed to estimate the prevalence of suicidal ideation, suicide attempts and NSSI; identify factors associated with suicide attempts and NSSI; and describe NSSI in this group. METHOD: Sixty-three new patients at an adult psychiatric out-patient clinic (57% women, mean age 32 years) who met full (n = 52) or subthreshold (two A criteria and minimum of two B criteria; n = 11) DSM-5 criteria for autism spectrum disorder were included in the study. Clinical assessments included overall diagnostic review, Paykel’s questions on passive and active suicidality, evaluation of NSSI with the Functional Assessment of Self-Mutilation, and results of cognitive tests. One follow-up of medical records was made. RESULTS: In this sample of psychiatric out-patients identified as first having autism in adulthood, almost a third (31%) of patients reported suicidal ideation during the past month, 86% had lifetime suicidal ideation and 25% reported at least one suicide attempt. Factors associated with suicide attempts included hazardous or harmful alcohol use and/or drug-related problems, and severity of depression. A total of 44% reported NSSI. Factors associated with NSSI were female sex, history of suicidal plans and antisocial personality disorder. Substance or alcohol use were often overlooked, especially in women. CONCLUSIONS: Suicidal ideation, suicide attempts and NSSI were very common in adults with autism who were recently referred to an out-patient psychiatric service. Suicidal ideation and NSSI were more common than suicide attempts. Clinicians should always consider suicidal ideation and NSSI in adult psychiatric patients with autism.

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17. Oshima F, Mandy W, Seto M, Hongo M, Tsuchiyagaito A, Hirano Y, Sutoh C, Guan S, Nitta Y, Ozawa Y, Kawasaki Y, Ohtani T, Masuya J, Takahashi N, Sato N, Nakamura S, Nakagawa A, Shimizu E. Cognitive behavior therapy for autistic adolescents, awareness and care for my autistic traits program: a multicenter randomized controlled trial. BMC psychiatry. 2023; 23(1): 661.

BACKGROUND: Autistic people demonstrate focused interests, sensitivity to sensory stimulation, and, compared with the general population, differences in social communication and interaction. We examined whether a combination of the Awareness and Care for My Autistic Traits (ACAT) program and treatment-as-usual is more effective than only treatment-as-usual in increasing the understanding of autistic attributes, reducing treatment stigma, and improving mental health and social adaptation among autistic adolescents and their parents/guardians. METHODS: Forty-nine adolescents and their parents/guardians were randomly assigned to either a combination of ACAT and treatment-as-usual or only treatment-as-usual. The combined group received six weekly 100-minute ACAT sessions, while the treatment-as-usual group received no additional intervention. The primary outcome was the change in understanding of autistic attributes (Autism Knowledge Quiz-Child), administered from pre- to post-intervention. The secondary outcomes included the change in Autism Knowledge Quiz-Parent, reduced treatment stigma, and improved mental health and social adaptation among autistic adolescents and their parents/guardians. A primary outcome measure scale was scored by assessors who were blind to the group assignment. RESULTS: The combined group (both autistic adolescents and their parents/guardians) showed an increase in Autism Knowledge Quiz scores compared to those in the treatment-as-usual group. Autistic adolescents in the combined group also demonstrated a decrease in treatment-related stigma and an improvement in general mental health compared to those in the treatment-as-usual group, while there were no group differences in the change in social adaptation. For parents/guardians, there were no group differences in the change in treatment-related stigma, general mental health, adaptive skills, or attitudes toward their children. CONCLUSIONS: The ACAT program could be an effective treatment modality to increase the understanding of autistic attributes among both autistic adolescents and their parents/guardians. The ACAT program positively affects self-understanding, reduces treatment stigma, and stabilizes behavioral issues for autistic adolescents as a part of mental health measures, but it does not effectively reduce treatment barriers or improve mental health for parents/guardians. Further research should consider whether additional support for parents/guardians could be beneficial. TRIAL REGISTRATION: The study was registered in UMIN (UMIN000029851, 06/01/2018).

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18. Price JR, Cooper-Duffy K, Ogletree BT, Campbell JM, Rose AJ, Cathey M, Chen K. Interprofessional education on autism and intellectual disabilities: Program description and initial evaluation. School psychology (Washington, DC). 2023.

Project INTERprofessional Autism Collaborative Training (INTERACT) is an interprofessional education program designed to prepare graduate students in psychology, special education, and speech-language pathology to work with autistic children with moderate to severe intellectual disabilities. The rising prevalence of autism, coupled with increased appreciation for interprofessional approaches to service delivery, indicates the need for university training programs to prepare graduate students to work interprofessionally with this population; yet descriptions of such programs and their effectiveness are not reported in the literature. In this article, we explain the process through which an interprofessional faculty team developed Project INTERACT, describe the sequence of coursework and team-based clinical experiences that comprise the program, and present preliminary data regarding its effectiveness. Twenty-four graduate students in psychology, special education, and speech-language pathology participated in this quantitative study. We report results from three rating scales that participants completed at program entry, midpoint, and program exit. Participants endorsed positive attitudes toward interprofessional practice and demonstrated high levels of knowledge about autism. Self-rated knowledge and abilities in interprofessional practice increased significantly by program exit. Project INTERACT scholars developed knowledge and skills related to understanding, assessing, and treating autistic children with intellectual disabilities, through the lens of team-based interprofessional collaboration. We discuss implications for practice with Project INTERACT. (PsycInfo Database Record (c) 2023 APA, all rights reserved).

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19. Sun Z, Yuan Y, Dong X, Liu Z, Cai K, Cheng W, Wu J, Qiao Z, Chen A. Supervised machine learning: A new method to predict the outcomes following exercise intervention in children with autism spectrum disorder. International journal of clinical and health psychology : IJCHP. 2023; 23(4): 100409.

The individual differences among children with autism spectrum disorder (ASD) may make it challenging to achieve comparable benefits from a specific exercise intervention program. A new method for predicting the possible outcomes and maximizing the benefits of exercise intervention for children with ASD needs further exploration. Using the mini-basketball training program (MBTP) studies to improve the symptom performance of children with ASD as an example, we used the supervised machine learning method to predict the possible intervention outcomes based on the individual differences of children with ASD, investigated and validated the efficacy of this method. In a long-term study, we included 41 ASD children who received the MBTP. Before the intervention, we collected their clinical information, behavioral factors, and brain structural indicators as candidate factors. To perform the regression and classification tasks, the random forest algorithm from the supervised machine learning method was selected, and the cross validation method was used to determine the reliability of the prediction results. The regression task was used to predict the social communication impairment outcome following the MBTP in children with ASD, and explainable variance was used to evaluate the predictive performance. The classification task was used to distinguish the core symptom outcome groups of ASD children, and predictive performance was assessed based on accuracy. We discovered that random forest models could predict the outcome of social communication impairment (average explained variance was 30.58%) and core symptom (average accuracy was 66.12%) following the MBTP, confirming that the supervised machine learning method can predict exercise intervention outcomes for children with ASD. Our findings provide a novel and reliable method for identifying ASD children most likely to benefit from a specific exercise intervention program in advance and a solid foundation for establishing a personalized exercise intervention program recommendation system for ASD children.

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20. Szakats S, McAtamney A, Cross H, Wilson MJ. Sex-biased gene and microRNA expression in the developing mouse brain is associated with neurodevelopmental functions and neurological phenotypes. Biology of sex differences. 2023; 14(1): 57.

BACKGROUND: Sex differences pose a challenge and an opportunity in biomedical research. Understanding how sex chromosomes and hormones affect disease-causing mechanisms will shed light on the mechanisms underlying predominantly idiopathic sex-biased neurodevelopmental disorders such as ADHD, schizophrenia, and autism. Gene expression is a crucial conduit for the influence of sex on developmental processes; therefore, this study focused on sex differences in gene expression and the regulation of gene expression. The increasing interest in microRNAs (miRNAs), small, non-coding RNAs, for their contribution to normal and pathological neurodevelopment prompted us to test how miRNA expression differs between the sexes in the developing brain. METHODS: High-throughput sequencing approaches were used to identify transcripts, including miRNAs, that showed significantly different expression between male and female brains on day 15.5 of development (E15.5). RESULTS: Robust sex differences were identified for some genes and miRNAs, confirming the influence of biological sex on RNA. Many miRNAs that exhibit the greatest differences between males and females have established roles in neurodevelopment, implying that sex-biased expression may drive sex differences in developmental processes. In addition to highlighting sex differences for individual miRNAs, gene ontology analysis suggested several broad categories in which sex-biased RNAs might act to establish sex differences in the embryonic mouse brain. Finally, mining publicly available SNP data indicated that some sex-biased miRNAs reside near the genomic regions associated with neurodevelopmental disorders. CONCLUSIONS: Together, these findings reinforce the importance of cataloguing sex differences in molecular biology research and highlight genes, miRNAs, and pathways of interest that may be important for sexual differentiation in the mouse and possibly the human brain. In biomedical research, understanding the differences between males and females is essential for understanding diseases that affect one sex more than the other. This study focused on gene expression and regulation differences between male and female mouse brains during development. We found that many microRNAs, small molecules that play a role in development were expressed differently between male and female brains. These differences could be important in understanding why males and females develop differently, particularly regarding neurodevelopmental disorders like ADHD, schizophrenia, and autism. We also found that some microRNAs that differed between males and females were located near genes associated with these disorders. Overall, the study highlights the importance of understanding sex differences in molecular biology research and provides insights into potential genes and pathways of interest for further study. eng.

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21. Tarasi L, Martelli ME, Bortoletto M, di Pellegrino G, Romei V. Neural Signatures of Predictive Strategies Track Individuals Along the Autism-Schizophrenia Continuum. Schizophrenia bulletin. 2023; 49(5): 1294-304.

BACKGROUND AND HYPOTHESIS: Humans develop a constellation of different representations of the external environment, even in the face of the same sensory exposure. According to the Bayesian framework, these differentiations could be grounded in a different weight assigned to prior knowledge vs. new external inputs in predictive inference. Since recent advances in computational psychiatry suggest that autism (ASD) and schizophrenia (SSD) lie on the two diametric poles of the same predictive continuum, the adoption of a specific inferential style could be routed by dispositional factors related to autistic and schizotypal traits. However, no studies have directly investigated the role of ASD-SSD dimension in shaping the neuro-behavioral markers underlying perceptual inference. STUDY DESIGN: We used a probabilistic detection task while simultaneously recording EEG to investigate whether neurobehavioral signatures related to prior processing were diametrically shaped by ASD and SSD traits in the general population (n = 80). RESULTS: We found that the position along the ASD-SSD continuum directed the predictive strategies adopted by the individuals in decision-making. While proximity to the positive schizotypy pole was associated with the adoption of the predictive approach associated to the hyper-weighting of prior knowledge, proximity to ASD pole was related to strategies that favored sensory evidence in decision-making. CONCLUSIONS: These findings revealed that the weight assigned to prior knowledge is a marker of the ASD-SSD continuum, potentially useful for identifying individuals at-risk of developing mental disorders and for understanding the mechanisms contributing to the onset of symptoms observed in ASD and SSD clinical forms.

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22. Torio M, Maeda K, Akamine S, Kawakami S, Matsubara Y, Miya F, Kato M, Kira R. A case of infantile epileptic spasms syndrome and autism spectrum disorder with an RFX3 mutation. Seizure. 2023; 112: 11-4.

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23. Walton KM, Borowy AR, Gordon RA, Wainer AL. Enhancing stakeholder roles in autism early interventions in the United States: A stakeholder-driven research agenda. Autism : the international journal of research and practice. 2023: 13623613231195743.

In this article, we outline a stakeholder-driven research agenda to guide future early intervention research for children with autism. Our research team collaborated with autism service providers, parents of individuals with autism, and autistic people to create this research agenda by (1) conducting workshops with community members and (2) distributing a survey to a larger number of community members around the country. The finalized research agenda includes (1) Guiding Principles for current and future research, (2) Research Priorities focused on early intervention for individuals with autism, and (3) Systems Implications to consider in future clinical, research, and policy efforts for early intervention. The full version of the research agenda is available in Supplemental Material. This article lists the main points of the research agenda and discusses unique themes highlighted by the community members. One main conclusion is that researchers need to include community members in decision-making and consultant positions throughout the research process to best meet the needs of the broader autism community. We have created a researcher workbook which we hope may facilitate these community consultation efforts. This workbook is available in Supplemental Material.

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24. Wang X, Zhao Z, Guo J, Mei D, Duan Y, Zhang Y, Gou L. GABA(B1) receptor knockdown in prefrontal cortex induces behavioral aberrations associated with autism spectrum disorder in mice. Brain research bulletin. 2023; 202: 110755.

Autism spectrum disorder (ASD) is a set of heterogeneous neurodevelopmental disorders, characterized by social interaction deficit, stereotyped or repetitive behaviors. Apart from these core symptoms, a great number of individuals with ASD exhibit higher levels of anxiety and memory deficits. Previous studies demonstrate pronounced decrease of γ-aminobutyric acid B1 receptor (GABA(B1)R) protein level of frontal lobe in both ASD patients and animal models. The aim of the present study was to determine the role of GABA(B1)R in ASD-related behavioral aberrations. Herein, the protein and mRNA levels of GABA(B1)R in the prefrontal cortex (PFC) of sodium valproic acid (VPA)-induced mouse ASD model were determined by Western blot and qRT-PCR analysis, respectively. Moreover, the behavioral abnormalities in naive mice with GABA(B1)R knockdown mediated by recombinant adeno-associated virus (rAAV) were assessed in a comprehensive test battery consisted of social interaction, marble burying, self-grooming, open-field, Y-maze and novel object recognition tests. Furthermore, the action potential changes induced by GABA(B1)R deficiency were examined in neurons within the PFC of mouse. The results show that the mRNA and protein levels of GABA(B1)R in the PFC of prenatal VPA-induced mouse ASD model were decreased. Concomitantly, naive mice with GABA(B1)R knockdown exhibited ASD-like behaviors, such as impaired social interaction and communication, elevated stereotypes, anxiety and memory deficits. Patch-clamp recordings also revealed that GABA(B1)R knockdown provoked enhanced neuronal excitability by increasing action potential discharge frequencies. Overall, these findings support a notion that GABA(B1)R deficiency might contribute to ASD-like phenotypes, with the pathogenesis most likely resulting from enhanced neuronal excitability. SUBHEADINGS: GABA(B1) Knockdown Induces Behavioral Aberrations with ASD.

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25. Wei J, Chen J, Fang X, Liu T, Yuan Y, Zhang J. Protocol for the safety and efficacy of fecal microbiota transplantation liquid in children with autism spectrum disorder: a randomized controlled study. Frontiers in microbiology. 2023; 14: 1236904.

BACKGROUND: Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by deficits in social interaction, repetitive behavior and language impairment, and its worldwide prevalence has been found to be increasing annually in recent years. Till now, ASD is uncurable as its pathogenesis remains unknown. However, studies on both animals and humans have demonstrated that fecal microbiota transplantation (FMT) may ameliorate the symptoms of ASD, as well as gastrointestinal symptoms. Nonetheless, there is still no agreement regarding the optimal dosage or duration of FMT treatment for individuals with ASD. METHODS: This clinical study is a double-blind, randomized, interventional trial conducted at a single center. The aim is to investigate the safety and efficacy of a pediatric formulation of FMT for ASD. A total of 42 children between the ages of 3-9 with ASD will be randomly assigned in a 2:1 ratio to either an FMT treatment group (n = 28) or a placebo group (n = 14), forming cohort 1. Additionally, 30 healthy children of similar age and gender will be recruited as the control group (cohort 2). Cohort 1 will be assessed using a variety of scales, including the Autism Behavior Checklist, Childhood Autism Rating Scale, Social Responsiveness Scale, Gastrointestinal Symptom Rating Scale, Children’s Sleep Habits Questionnaire, and Psychoeducational Profile (Third Edition). These assessments will evaluate the effectiveness of FMT in reducing core symptoms and comorbidities (such as gastrointestinal symptoms and sleep disturbances) in children with ASD. The study will use metagenomic and metabolomic sequencing to assess changes in the composition and structure of the intestinal flora and its metabolites in blood, urine, and feces following treatment. Furthermore, the study will evaluate the acceptability of the FMT formulation by participants’ legal guardians and investigate differences in the intestinal flora and metabolism in the FMT group before and after treatment compared to 30 healthy children. CLINICAL TRIAL REGISTRATION: https://www.chictr.org.cn/, identifier ChiCTR2200058459.

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26. Wimmer L, Steininger TM, Schmid A, Wittwer J. Category learning in autistic individuals: A meta-analysis. Psychonomic bulletin & review. 2023.

Learning new categories is a fundamental human skill. In the present article, we report the first comprehensive meta-analysis of category learning in autism. Including studies comparing groups of autistic and nonautistic individuals, we investigated whether autistic individuals differ in category learning from nonautistic individuals. In addition, we examined moderator variables accounting for variability between studies. A multilevel meta-analysis of k = 50 studies examining n = 1,220 autistic and n = 1,445 nonautistic individuals based on 112 effect sizes in terms of the standardized mean difference revealed lower-level category learning skills for autistic compared with nonautistic individuals, g = -0.55, 95% CI = [-0.73, -0.38], p < .0001. According to moderator analyses, the significant amount of heterogeneity, Q(111) = 617.88, p < .0001, was explained by only one of the moderator variables under investigation-namely, study language. For the remaining variables-namely, age, year of publication, risk of bias, type of control group, IQ of autistic group, percentage of male autistic participants, type of category, type of task, and type of dependent measure-there were no significant effects. Although hat values and Cook's distance statistics confirmed the robustness of findings, results of Egger's test and a funnel plot suggested the presence of publication bias reflecting an overrepresentation of disadvantageous findings for autistic groups. Objectives for future work include identifying additional moderator variables, examining downstream effects of suboptimal category learning skills, and developing interventions.

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