1. Belisle J, Lang L, Dixon MR, Harper K, Sellers B. Establishing Foundational Nonarbitrary Distinctive and Categorical Relational Responding in Children with Autism. Behavior analysis in practice. 2023; 16(4): 1163-74.

The present study sought to evaluate a sequence of training procedures on the emergence of foundational relational responses that underly more complex distinctive (i.e., difference) and hierarchical (i.e., categorical) relational frames. In a multiple baseline design, an initial baseline period with three children with autism showed that the participants did not select nonidentical stimuli from an array when presented the contextual cue « different. » Simple discrimination training was efficacious in establishing this response and the skill transferred to a novel set of stimuli without reinforcement. In a second baseline period, participants did not demonstrate conditional identical/nonidentical relational responses when provided the contextual cues « same » and « different. » Conditional discrimination training with all three participants was again efficacious in establishing the conditional reflexive and distinctive responses and the skill transferred to untrained stimuli. In a third baseline period, participants did not demonstrate correct conditional categorization/sorting. Like in the prior two training conditions, training was efficacious in establishing the target response with a generalized transfer to untrained stimuli.

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2. Bielopolski N, Stawarski M, Roitman I, Fridman K, Wald-Altman S, Früh S, Bettler B, Nissenkorn A. Characterization of a de novo GABBR2 variant linked to autism spectrum disorder. Frontiers in molecular neuroscience. 2023; 16: 1267343.

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3. Black MH, Remnélius KL, Alehagen L, Bourgeron T, Bölte S. From Symptomatology to Functioning – Applying the ICF to Autism Measures to Facilitate Neurodiversity-Affirmative Data Harmonization. Journal of autism and developmental disorders. 2023.

PURPOSE: A considerable number of screening and diagnostic tools for autism exist, but variability in these measures presents challenges to data harmonization and the comparability and generalizability of findings. At the same time, there is a movement away from autism symptomatology to stances that capture heterogeneity and appreciate diversity. The International Classification of Functioning, Disability and Health (ICF) provides a classification system that can support content harmonization of different screening and diagnostic tools for autism while enabling the translation of diagnostic information into functioning. METHOD: Here we linked commonly used screening and diagnostic measures within the field of autism to the ICF to facilitate the unification of data obtained from these measures. RESULTS: As expected, screening and diagnostic measures primarily focus on body functions and activities and participation domains of the ICF, and much less on environmental factors, reflecting biomedical and adaptive behavior operationalizations of autism derived from diagnostic manuals. CONCLUSION: By translating symptomology-based information to the continuous and diagnostically neutral view of functioning, the ICF linking presented here may provide a means to harmonize measures of autism characteristics while enabling diagnostic information to be re-examined through a more neurodiversity-affirmative lens.

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4. Calabrese ME, Sideridis G, Weitzman C. Physical and Pharmacologic Restraint in Hospitalized Children With Autism Spectrum Disorder. Pediatrics. 2023.

OBJECTIVES: Children with autism spectrum disorder (ASD) have high rates of cooccurring conditions and are hospitalized longer and more frequently than children without ASD. Little is known about use of involuntary physical or pharmacologic restraint in hospitalized children with ASD. This study compares use of restraint because of violent or self-injurious behavior during inpatient pediatric hospitalization in children with ASD compared with typical peers. METHODS: This retrospective cohort study examines electronic health records of all children aged 5 to 21 years admitted to a pediatric medical unit at a large urban hospital between October 2016 and October 2021. Billing diagnoses from inpatient encounters identified ASD and cooccurring diagnoses. Clinical orders identified physical and pharmacologic restraint. Propensity score matching ensured equivalency between ASD and matched non-ASD groups on demographic factors. Logistic regression determined the odds of restraint in children with ASD compared with children without ASD, controlling for hospitalization factors and cooccurring diagnoses. RESULTS: Of 21 275 hospitalized children, 367 (1.7%) experienced restraint and 1187 (5.6%) had ASD. After adjusting for reason for admission, length of stay, and cooccurring mental health, developmental, and behavioral disorders, children with ASD were significantly more likely to be restrained than children without ASD (odds ratio 2.3, 95% confidence interval 1.6-3.4; P < .001). CONCLUSIONS: Hospitalized children with ASD have significantly higher odds of restraint for violent or self-injurious behavior compared with children without ASD after accounting for reason for admission, length of hospitalization and cooccurring diagnoses. Work is needed to modify the hospital environment for children with ASD to reduce behavioral dysregulation and restraint.

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5. Chang X, Qu HQ, Liu Y, Glessner JT, Hakonarson H. Mitochondrial DNA Haplogroup K Is Protective of Autism Spectrum Disorder Risk in Populations of European Ancestry. Journal of the American Academy of Child and Adolescent Psychiatry. 2023.

OBJECTIVE: Accumulative evidence indicates a critical role of mitochondrial function in ASD implying ASD risk may be linked to mitochondrial dysfunction due to DNA (mtDNA) variations. Although a few studies have explored the association between mtDNA variations and ASD, the role of mtDNA in ASD is still unclear. Here, we aimed to investigate whether mitochondrial DNA haplogroups are associated with the risk of ASD. METHOD: Two European cohorts and an Ashkenazi Jewish (AJ) cohort analyzed, included 2,062 ASD patients in comparison with 4,632 healthy controls. DNA samples were genotyped using Illumina HumanHap550/610 and Illumina 1M arrays, inclusive of mitochondrial markers. Mitochondrial DNA (mtDNA) haplogroups were identified from genotyping data using HaploGrep2. A mitochondrial genome imputation pipeline was established to detect mtDNA variants. We conducted a case-control study to investigate potential associations of mtDNA haplogroups and variants with the susceptibility of ASD. RESULTS: We observed that the ancient adaptive mtDNA haplogroup K was significantly associated with decreased risk of ASD by the investigation of two European cohorts including a total of 2,006 cases and 4,435 controls (odds ratio 0.64, P=1.79 × 10(-5)), and we replicated this association in an Ashkenazi Jewish (AJ) cohort including 56 cases and 197 controls (odds ratio 0.35, P=9.46 × 10(-3)). Moreover, we demonstrate that the mtDNA variants, rs28358571, rs28358584 and rs28358280 are significantly associated with ASD risk. Further expression quantitative trait loci (eQTLs) analysis indicated that the rs28358584 and rs28358280 genotypes are associated with expression levels of nearby genes in brain tissues suggesting those mtDNA variants may confer risk to ASD via regulation of expression levels of genes encoded by the mitochondrial genome. CONCLUSION: This study helps shed light on the contribution of mitochondria in ASD and provides new insights into the genetic mechanism underlying ASD, suggesting the potential involvement of mtDNA encoded proteins in the development of ASD.

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6. Cooper A, Weyman JR, Kahng S. An Evaluation of Contingent Gum Chewing on Rumination Exhibited by an Adolescent with Autism Spectrum Disorder. Behavior analysis in practice. 2023; 16(4): 1211-5.

Rumination is defined as repeated regurgitation of food, not attributed to other medical conditions. Some individuals with autism or other developmental disabilities engage in rumination, and it can lead to multiple health issues. Previous research demonstrated that noncontingent presentation of chewing gum could be an effective treatment for reducing ruminations. The current study evaluated the effects of noncontingent chewing gum and contingent gum on rumination of an adolescent boy with autism and the results suggest that both treatments were effective, but contingent gum resulted in the lowest rate of rumination. • Rumination can cause multiple health issues including malnutrition, weight loss, esophagitis, tooth decay, and abnormal gastrointestinal symptoms. • Rumination in individuals with autism is often automatically maintained. • Continuous noncontingent gum and contingent gum may be viable treatments for rumination. • Contingent gum may be a more practical intervention for rumination relative to continuous noncontingent gum.

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7. Couto-Ovejero S, Ye J, Kind PC, Till SM, Watson TC. Cerebellar contributions to fear-based emotional processing: relevance to understanding the neural circuits involved in autism. Frontiers in systems neuroscience. 2023; 17: 1229627.

Cerebellar networks have traditionally been linked to sensorimotor control. However, a large body of evidence suggests that cerebellar functions extend to non-motor realms, such as fear-based emotional processing and that these functions are supported by interactions with a wide range of brain structures. Research related to the cerebellar contributions to emotional processing has focussed primarily on the use of well-constrained conditioning paradigms in both human and non-human subjects. From these studies, cerebellar circuits appear to be critically involved in both conditioned and unconditioned responses to threatening stimuli in addition to encoding and storage of fear memory. It has been hypothesised that the computational mechanism underlying this contribution may involve internal models, where errors between actual and expected outcomes are computed within the circuitry of the cerebellum. From a clinical perspective, cerebellar abnormalities have been consistently linked to neurodevelopmental disorders, including autism. Importantly, atypical adaptive behaviour and heightened anxiety are also common amongst autistic individuals. In this review, we provide an overview of the current anatomical, physiological and theoretical understanding of cerebellar contributions to fear-based emotional processing to foster further insights into the neural circuitry underlying emotional dysregulation observed in people with autism.

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8. Frye RE. Editorial: Mitochondrial Gene Variations Increase Autism Risk: Uncovering the Complex Polygenetic Landscape of Autism. Journal of the American Academy of Child and Adolescent Psychiatry. 2023.

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9. Healthcare Engineering JO. Retracted: Prediction and Analysis of Autism Spectrum Disorder Using Machine Learning Techniques. Journal of healthcare engineering. 2023; 2023: 9815989.

[This retracts the article DOI: 10.1155/2023/4853800.].

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10. Henderson TB, Ludden BJ, Romero RA. The Ethical Obligations, Barriers, and Solutions for Interprofessional Collaboration in the Treatment of Autistic Individuals. Behavior analysis in practice. 2023; 16(4): 963-76.

With an estimated 1 in 44 children having been diagnosed with autism and given the variety of types of service providers that treat autism, collaboration among these professionals is a necessary part of the overall treatment package for an autistic individual. However, like with any professional skill, competence in collaborating effectively must be developed, especially because behavior analysts have been criticized for being resistant to collaboration. Competence with collaboration may be developed through coursework, professional development opportunities, and supervision by someone who has demonstrated competence with collaboration. With the 2020 update to the Ethics Code for Behavior Analysts, the behavior analyst’s role in collaborating with other professionals has been clarified by several expectations. Current literature also provides additional guidance on the potential barriers to collaboration as well as recommendations for how to support a collaborative team. In order to facilitate successful collaboration, it is also important to evaluate the effectiveness of the collaborative team and to take advantage of opportunities to learn about the methodologies and perspectives of the other professionals to ensure that the client’s best interests are met.

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11. Hernandez CD, Williams Awodeha NF, Cameron MJ. Culture and Language Inclusion in the Practice of Applied Behavior Analysis: Next Steps for Improving Outcomes for Autistic Clients. Behavior analysis in practice. 2023; 16(4): 1280-9.

As applied behavior analysis (ABA) is widely prescribed as an intervention for autistic children, ABA practitioners must have a thorough understanding of the impact of language and culture on the individuals and families they serve. The twin purposes of this article are to discuss cultural humility in ASD service delivery, and to provide an overview of practice parameters for the expansion of equity and inclusion. These efforts are guided by the National Standards for Culturally and Linguistically Appropriate Services (CLAS) in Health and Health Care. Readers will be provided with recommendations for incorporating culturally and linguistically appropriate services into training, practice, and supervision in ABA settings.

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12. Kaydırak M, Yılmaz B, Azak M, Bilge Ç. Effectiveness of menstruation hygiene skills training for adolescents with autism. World journal of psychiatry. 2023; 13(11): 958-66.

BACKGROUND: Adolescents with autism spectrum disorder (ASD) may encounter many difficulties with their menstrual cycles. Potential challenges that adolescents with ASD may face include understanding physical changes, coping with symptoms, emotional sensitivity, communication, personal care, and hygiene. AIM: To evaluate the effect of menstrual hygiene skills training given to adolescents with ASD on their menstrual hygiene skills. METHODS: The study was conducted with 15 adolescents diagnosed with ASD by the single group pre-test and post-test model in three special education centers in Türkiye. Data were collected with the Adolescent and Parent Information Form and the Adolescent-Specific Menstrual Hygiene Skill Registration Form. RESULTS: While the mean age of adolescents was 16.06 ± 0.88 years, the mean age of individuals responsible for adolescent care was 43.66 ± 5.56 years. While 60.0% of the adolescents noticed the onset of bleeding before training, this rate was 93.3% after training. The Adolescent-Specific Menstrual Hygiene Skill Registration Form showed a statistically significant increase in the application steps after the training. The difference between the menstrual hygiene skill scores of adolescents diagnosed with ASD before and after training was significant. CONCLUSION: The menstrual hygiene skills training given to adolescents with ASD was beneficial in increasing their menstrual hygiene skills. These individuals must take responsibility during menstruation and independently manage their continuous care activities.

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13. Koniou I, Douard E, Lanovaz MJ. Brief Report: Virtual Reality to Raise Awareness About Autism. Journal of autism and developmental disorders. 2023.

PURPOSE: The purpose of the study was to develop and test a virtual reality application designed to put the participants « in the shoes » of an autistic person during a routine task. METHOD: The study involved a randomized controlled trial that included 103 participants recruited from a technical college. Each participant responded to three questionnaires to measure attitudes, knowledge, and openness toward autism. Prior to responding to these questionnaires, the participants in the experimental group also completed an 8-min virtual reality simulation designed by the research team in collaboration with autistic individuals. RESULTS: The participants who completed the virtual reality simulation reported better attitudes, more knowledge, and higher openness toward autism than the participants in the control group. CONCLUSION: The results of the study suggest that virtual reality simulations are promising tools to raise awareness about autism.

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14. Li Y, Zhang Y, Luo X, Meng Y, Zhong Z, Zheng H, Yang Y. The fecal microbiota from children with autism impact gut metabolism and learning and memory abilities of honeybees. Frontiers in microbiology. 2023; 14: 1278162.

Autism spectrum disorder (ASD) is a set of neurodevelopmental disorders, with an increasing incidence. Gastrointestinal symptoms are common comorbidities of ASD. The gut microbiota composition of children with autism is distinct from that of typical developmental (TD) children, suggesting that the gut microbiota probably influences on hosts via the microbiota-gut-brain axis. However, the relationship between intestinal dysbiosis and host brain function remains unclear. In this study, we creatively developed a honeybee model and investigated the potential effects of fecal microbiota on hosts. Fecal microbiota from children with autism and TD children were transplanted into microbiota-free honeybees (Apis mellifera), resulting in induced ASD-fecal microbiota transplantation (FMT) honeybees (A-BEE group) and TD-FMT honeybees (T-BEE group), respectively. We found that cognitive abilities of honeybees in the A-BEE group were significantly impaired in olfactory proboscis extension response conditioning. Metagenomics was used to evaluate fecal microbiota colonization, revealing several differential species responsible for altered tryptophan metabolism and taurine metabolism within the bee gut, including Bacteroides dorei, Bacteroides fragilis, Lactobacillus gasseri, and Lactobacillus paragasseri. Furthermore, fecal microbiota from children with autism downregulated brain genes involved in neural signaling and synaptic transmission within honeybees. Notably, differentially spliced genes observed within brains of honeybees from the A-BEE group largely overlapped with those identified in human diagnosed with autism via SFARI and SPARK gene sets. These differentially spliced genes were also enriched within pathways related to neural synaptic transmission. Our findings provide novel insights into the pivotal role of the human gut microbiota, which may contribute to neurological processes in honeybees. Additionally, we present a few research sources on gut-brain connections in ASD.

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15. Markfeld JE, Feldman JI, Daly C, Santapuram P, Bowman SM, Dunham-Carr K, Suzman E, Keçeli-Kaysılı B, Woynaroski TG. The Stability and Validity of Automated Indices of Vocal Development in Infants With Autistic and Non-Autistic Siblings. Journal of speech, language, and hearing research : JSLHR. 2023; 66(12): 4934-48.

PURPOSE: This study evaluates the extent to which automated indices of vocal development are stable and valid for predicting language in infants at increased familial likelihood for autism and/or language impairment and relatively lower likelihood infants. METHOD: A group of infants with autistic siblings (Sibs-autism; 20 infants) and a comparison group of infants with non-autistic siblings (Sibs-NA; 20 infants) wore Language ENvironment Analysis (LENA) recording devices for 16 hr on 2 days within a 1-week period. Extant software was used to derive several putative indices of vocal development from these recordings. Stability of these variables was examined across and within groups. Expressive and receptive language aggregates were calculated for each participant. Multiple regression analyses were used to (a) evaluate zero-order correlations for variables derived from LENA recordings with concurrent and future language and (b) test whether those associations were moderated by group status. RESULTS: Both stability and validity differed by variable and group status. All variables reached acceptable stability in the Sibs-autism group within two to three observations, whereas stability of most variables was attenuated in the Sibs-NA group. No variables were associated with concurrent language in the theoretically motivated direction across groups, but two variables were strongly associated with concurrent expressive language in only the Sibs-NA group. Additionally, two variables were associated with later expressive language, though these correlations were again stronger in the Sibs-NA versus Sibs-autism group. CONCLUSIONS: Although selected automated indices of vocal development were stable in Sibs-autism and/or valid for predicting expressive language within Sibs-NA, no scores showed strong, theoretically motivated associations with language within the Sibs-autism group. Automated indices of vocal development may, thus, have limited validity or clinical utility for predicting language development in infants at elevated familial likelihood for autism. SUPPLEMENTAL MATERIAL: https://doi.org/10.23641/asha.24415735.

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16. Marshall KB, Bowman KS, Tereshko L, Suarez VD, Schreck KA, Zane T, Leaf JB. Behavior Analysts’ Use of Treatments for Individuals with Autism: Trends within the Field. Behavior analysis in practice. 2023; 16(4): 1061-84.

Previous surveys revealed the majority of certified behavior analysts reported using applied behavior analysis (ABA) as a treatment for individuals on the autism spectrum. However, some certificants have also reported using treatments without evidence (Schreck et al. Behavioral Interventions, 31(4), 355-376, 2016; Schreck & Mazur Behavioral Interventions: Theory & Practice in Residential & Community- Based Clinical Programs, 23(3), 201-212, 2008). The field of ABA has undergone many changes in the last five years. This survey evaluated trends in the use and variables influencing the use of autism treatments over that time. Results indicated that study participants (N = 921 BCBA-Ds, BCBAs, BCaBAs, and RBTs) were significantly less likely to report current use of ABA and some unestablished treatments (e.g., DIR Floortime, sensory integration therapy) than participants in 2016 (Schreck et al. Behavioral Interventions, 31(4), 355-376, 2016). Participants frequently cited persuasion by others as an influence for their treatment selections. Because behavior analysts’ use of unestablished treatments may be detrimental to client outcomes and the reputation and success of the field of ABA, future research is needed to identify methods for increasing behavior analysts’ use of empirically supported treatments.

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17. Naguy A, Moodliar-Rensburg SG, Alamiri B. β-Blockers for Autism-Help or Hindrance?. Psychopharmacology bulletin. 2023; 53(4): 57-9.

A renewed interest in the use of β-blockers for neurodevelopmental disorders has recently resurfaced, notably as an addition to the limited psychopharmacological armamentarium of autism spectrum disorders (ASD). In this clinical perspective, authors decently argue this use could be advantageous and multi-folded for this population.

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18. O’Neil A, Sato SK, Miguel CF, Heinicke MR, Vladescu JC. A Treatment Evaluation of Successive and Simultaneous Visual Stimulus Presentation During Tact Training with Children with Autism. The Analysis of verbal behavior. 2023; 39(2): 206-25.

The purpose of this study was to assess whether variations in visual stimulus presentation during tact training would affect efficacy, efficiency, and the emergence of listener responses. Participants included two preschool-aged children diagnosed with autism. We implemented two teaching conditions using an adapted alternating treatment design with intrasubject replications. During successive tact training, the experimenter presented one picture per trial. During simultaneous training, the experimenter pointed to the target picture in a stimulus array. For one participant, both procedures were similarly effective and efficient. For another participant, successive tact training generated fewer errors and better efficiency results. Moreover, both formats resulted in accurate listener responding. Our results suggest that both procedures are effective, and that the simultaneous format may be a viable alternative for teaching tacts.

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19. Ozbaran B, Inal-Kaleli I, Dogan N, Colak HI, Altunkaya A, Ozbaran B, Kose S. Association of Psychopharmacological Medication Preference with Autistic Traits and Emotion Regulation in ADHD. Psychopharmacology bulletin. 2023; 53(4): 23-38.

BACKGROUND: This study intends to evaluate the relationship between medication switching and autistic traits, emotion dysregulation, and methylphenidate side effects in children with attention deficit hyperactivity disorder (ADHD). METHODS: Children with ADHD, ages 9-18, treated with methylphenidate (MTP) (n = 23), and switched to atomoxetine (ATX) (n = 20) were included. All participants were interviewed with K-SADS-PL to confirm ADHD diagnosis and exclude comorbid psychiatric disorders. The participants then completed Difficulty in Emotion Regulation Scale (DERS) and Autism-Spectrum Quotient (AQ) and their parents completed Autism Spectrum Screening Questionnaire (ASSQ) and Barkley Stimulant Side Effect Rating Scale(BSSERS). RESULTS: The MTP group scored higher than the ATX group in ASSQ, AQ, and the lack of emotional clarity subscale of DERS, while the ATX group had higher scores in the emotional non-acceptance subscale of DERS. No differences were found between the MTP and ATX groups in methylphenidate side-effect severity. Multiple regression analyses revealed that non-acceptance of emotions predicted the switch to ATX while lack of emotional clarity predicted the maintenance of MTP therapy, rather than autistic traits. CONCLUSIONS: This study highlights emotion regulation difficulties and how different emotional profiles may influence medication selection in children with ADHD.

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20. Parmeggiani L, Stanzial F, Menna E, Boni E, Manzoni F, Benedicenti F, Pellegrin S. Early onset developmental and epileptic encephalopathy and Rett-like phenotype in a 15-year-old girl affected by Cornelia de Lange syndrome type 2 due to a SMC1A gene mutation. Epilepsy & behavior reports. 2023; 24: 100634.

Developmental and epileptic encephalopathies (DEE) are conditions in which a mutated gene may cause abnormal functioning of the central nervous system, resulting in both encephalopathy and epileptogenesis. We present a case of a girl with a DEE characterized by a Rett-like phenotype in association with febrile and afebrile clusters of focal seizures. The girl presented typical development until the age of 18 months, followed by regression. The first febrile bilateral tonic-clonic seizure was observed at 30 months of age, and the following month seizures recurred in clusters of several episodes per day every 10 days. These seizures were characterized by behavioural arrest, emotional symptoms, head turning, and followed by bilateral tonic-clonic seizures. The administration of valproic acid and levetiracetam led to prolonged seizure control. However, from the age of 7 years, she had monthly recurrent clusters of focal seizures and non-convulsive status epilepticus which occurred at different ages. Brain and spinal cord MRI showed mild non-progressive hemispheric cerebellar atrophy. A next generation sequencing panel for epilepsy identified the de novo splicing mutation c.2973+1G>A of the SMC1A gene.

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21. Rodriguez KA, Tarbox J, Tarbox C. Compassion in Autism Services: A Preliminary Framework for Applied Behavior Analysis. Behavior analysis in practice. 2023; 16(4): 1034-46.

Many have suggested that a compassion-focused approach to applied behavior analysis (ABA) services may improve provider-client therapeutic relationships and has the potential to improve program acceptability and clinical outcomes experienced by our clients. In this article, radical compassion is defined and explored as a foundational approach to the implementation of ABA, with special emphasis on practical applications in the area of service delivery for families living with autism. In this framework for care, compassion is offered as a measurable repertoire and as a philosophical guidepost for future developments in the profession. This article explores preliminary tenets of compassion-focused ABA and their implications for practice. This approach is offered in the hope of moving the field toward a future of improved acceptability and sustainable consumer preference.

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22. Saito A, Sato W, Yoshikawa S. Brief research report: autistic traits modulate the rapid detection of punishment-associated neutral faces. Frontiers in psychology. 2023; 14: 1284739.

Speedy detection of faces with emotional value plays a fundamental role in social interactions. A few previous studies using a visual search paradigm have reported that individuals with high autistic traits (ATs), who are characterized by deficits in social interactions, demonstrated decreased detection performance for emotional facial expressions. However, whether ATs modulate the rapid detection of faces with emotional value remains inconclusive because emotional facial expressions involve salient visual features (i.e., a U-shaped mouth in a happy expression) that can facilitate visual attention. In order to disentangle the effects of visual factors from the rapid detection of emotional faces, we examined the rapid detection of neutral faces associated with emotional value among young adults with varying degrees of ATs in a visual search task. In the experiment, participants performed a learning task wherein neutral faces were paired with monetary reward, monetary punishment, or no monetary outcome, such that the neutral faces acquired positive, negative, or no emotional value, respectively. During the subsequent visual search task, previously learned neutral faces were presented as discrepant faces among newly presented neutral distractor faces, and the participants were asked to detect the discrepant faces. The results demonstrated a significant negative association between the degrees of ATs and an advantage in detecting punishment-associated neutral faces. This indicates the decreased detection of faces with negative value in individuals with higher ATs, which may contribute to their difficulty in making prompt responses in social situations.

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23. Schmilovich Z, Bourque VR, Douard E, Huguet G, Poulain C, Ross JP, Alipour P, Castonguay C, Younis N, Jean-Louis M, Saci Z, Pausova Z, Paus T, Schuman G, Porteous D, Davies G, Redmond P, Harris SE, Deary IJ, Whalley H, Hayward C, Dion PA, Jacquemont S, Rouleau GA. Copy-number variants and polygenic risk for intelligence confer risk for autism spectrum disorder irrespective of their effects on cognitive ability. medRxiv : the preprint server for health sciences. 2023.

Rare copy number variants (CNVs) and polygenic risk for intelligence (PRS-IQ) both confer risk for autism spectrum disorder (ASD) but have opposing effects on cognitive ability. The field has struggled to disentangle the effects of these two classes of genomic variants on cognitive ability from their effects on ASD risk, in part because previous studies did not include controls with cognitive measures. We aim to investigate the impact of these genomic variants on ASD risk while adjusting for their known effects on cognitive ability. In a cohort of 8,426 subjects with ASD and 169,804 controls with cognitive assessments, we found that rare coding CNVs and PRS-IQ increased ASD risk, even after adjusting for their effects on cognitive ability. Bottom decile PRS-IQ and CNVs both decreased cognitive ability but had opposing effects on ASD risk. Models combining both classes of variants showed that the effects of rare CNVs and PRS-IQ on ASD risk and cognitive ability were largely additive, further suggesting that risk for ASD is conferred independently from its effects on cognitive ability. Despite imparting mostly additive effects on ASD risk, rare CNVs and PRS-IQ showed opposing effects on core and associated features and developmental history among subjects with ASD. Our findings suggest that cognitive ability itself may not be the factor driving the underlying risk for ASD conferred by these two classes of genomic variants. In other words, ASD risk and cognitive ability may be two distinct manifestations of CNVs and PRS-IQ. This study also highlights the challenge of understanding how genetic risk for ASD maps onto its dimensional traits.

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24. Simoncini M, Violi M, Valetto A, Bertini V, Cruz-Sanabria F, Massoni L, Dell’Osso L, Carmassi C. Case report: Familial case with autism spectrum and bipolar disorder showing a 20q11.21 microduplication including TM9SF4. Frontiers in psychiatry. 2023; 14: 1240663.

Autism spectrum disorder (ASD) is characterized by multifactorial etiology and high heritability but can be challenging to be diagnosed, especially in cases presenting subthreshold symptoms with no cognitive or language impairment, which may not be identified until adulthood but may occur in family members of subjects with ASD. This study explores the possible correlation between a genomic imbalance and clinical phenotypes in a family case of a proband with ASD, with subjects presenting full-blown or subthreshold ASD and/or mood disorders. Clinical assessments were carried out by means of the Structured Clinical Interview for DSM-5 (SCID-5) disorders, Autism Spectrum Quotient (AQ), Autism Diagnostic Interview-Revised (ADI-R), Autism Diagnostic Observation Schedule Module 2 (ADOS-2), and Adult Autism Subthreshold Spectrum (AdAS Spectrum). The genetic evaluation included array comparative genomic hybridization (array-CGH). The proband was diagnosed with ASD and bipolar disorder type I (BD-I), her twin brothers with ASD and intellectual disability (ID), and her father and sister with BD type II (BD-II) and autism traits. The proband, her father, twin brothers, and older sister showed a microduplication of 350 kb in 20q11.21. In contrast, the proband’s mother did not present the microduplication or any mental disorder. This study reports a microduplication that segregates with family members affected by ASD or autistic traits comorbid in some cases with bipolar disorder, and that has never been reported in healthy subjects. Among the genes harbored in this region, the TM9SF4 gene has been recently implicated in risk for ASD.

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25. Suresh H, Morgan BR, Mithani K, Warsi NM, Yan H, Germann J, Boutet A, Loh A, Gouveia FV, Young J, Quon J, Morgado F, Lerch J, Lozano AM, Al-Fatly B, Kühn A, Laughlin S, Dewan MC, Mabbot D, Gorodetsky C, Bartels U, Huang A, Tabori U, Rutka JT, Drake JM, Kulkarni AV, Dirks P, Taylor MD, Ramaswamy V, Ibrahim GM. Postoperative cerebellar mutism syndrome is an acquired Autism-like network disturbance. Neuro-oncology. 2023.

BACKGROUND: Cerebellar mutism syndrome (CMS) is a common and debilitating complication of posterior fossa tumour surgery in children. Affected children exhibit communication and social impairments that overlap phenomenologically with subsets of deficits exhibited by children with Autism spectrum disorder (ASD). Although both CMS and ASD are thought to involve disrupted cerebro-cerebellar circuitry, they are considered independent conditions due to an incomplete understanding of their shared neural substrates. METHODS: In this study, we analyzed post-operative cerebellar lesions from 90 children undergoing posterior fossa resection of medulloblastoma, 30 of whom developed CMS. Lesion locations were mapped to a standard atlas, and the networks functionally connected to each lesion were computed in normative adult and paediatric datasets. Generalizability to ASD was assessed using an independent cohort of children with ASD and matched controls (n=427). RESULTS: Lesions in children who developed CMS involved the vermis and inferomedial cerebellar lobules. They engaged large-scale cerebellothalamocortical circuits with a preponderance for the prefrontal and parietal cortices in the paediatric and adult connectomes, respectively. Moreover, with increasing connectomic age, CMS-associated lesions demonstrated stronger connectivity to the midbrain/red nuclei, thalami and inferior parietal lobules and weaker connectivity to prefrontal cortex. Importantly, the CMS-associated lesion network was independently reproduced in ASD and correlated with communication and social deficits, but not repetitive behaviours. CONCLUSIONS: Our findings indicate that CMS-associated lesions result in an ASD-like network disturbance that occurs during sensitive windows of brain development. A common network disturbance between CMS and ASD may inform improved treatment strategies for affected children.

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26. Wang B, Vartak R, Zaltsman Y, Naing ZZC, Hennick KM, Polacco BJ, Bashir A, Eckhardt M, Bouhaddou M, Xu J, Sun N, Lasser M, Zhou Y, Guiley KZ, Chan U, Kaye JA, Khare P, Drake S, Drury V, Burke DF, Gonzalez S, Alkhairy S, Thomas R, Lam S, Morris M, Bader E, Seyler M, Baum T, Krasnoff R, Wang S, Pham P, Arbalaez J, Pratt D, Chag S, Rolland T, Bourgeron T, Finkbeiner S, Bandyopadhay S, Ideker T, Beltrao P, Moohmood N, Willsey HR, Obernier K, Nowakowski TJ, Hüttenhain R, State MW, Willsey AJ, Krogan NJ. A foundational atlas of autism protein interactions reveals molecular convergence. bioRxiv : the preprint server for biology. 2023.

Despite the identification of a large number of high-confidence (hc) autism spectrum disorder (ASD) risk genes, translation to viable treatment targets remains elusive. Using affinity purification-mass spectrometry and HEK293T cells, we constructed a protein-protein interaction (PPI) network involving 100 hcASD risk genes, revealing over 1,800 PPIs, the vast majority of which have not been previously described. Importantly, the interactors are highly expressed in the human brain and neural progenitor cells, and enriched for ASD, but not schizophrenia, genetic risk. The network is highly connected, converges on protein complexes, including those involved in neurogenesis, tubulin biology, transcriptional regulation, and chromatin modification. We also generated a PPI map using over 50 patient-derived missense variants to identify differential physical interactions. Using these data, we leveraged AlphaFold2 predictions to prioritize direct PPIs as well as specific variants for interrogation in Xenopus tropicalis and human forebrain organoids. One such mutation in the transcription factor FOXP1, which disrupts interaction with FOXP4, led to a reconfiguration of DNA binding sites and disruption of neurogenesis, with a particularly strong impact on deep layer cortical and subplate neurons,consistent with a large body of work in ASD. Overall, this work offers critical new insights into molecular mechanisms underlying ASD that results from large effect genetic variants and describes a powerful platform to develop and test novel therapeutic strategies for a wide range of genetically-defined conditions.

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27. Weber CF, Lake EMR, Haider SP, Mozayan A, Bobba PS, Mukherjee P, Scheinost D, Constable RT, Ment L, Payabvash S. Autism spectrum disorder-specific changes in white matter connectome edge density based on functionally defined nodes. Frontiers in neuroscience. 2023; 17: 1285396.

INTRODUCTION: Autism spectrum disorder (ASD) is associated with both functional and microstructural connectome disruptions. We deployed a novel methodology using functionally defined nodes to guide white matter (WM) tractography and identify ASD-related microstructural connectome changes across the lifespan. METHODS: We used diffusion tensor imaging and clinical data from four studies in the national database for autism research (NDAR) including 155 infants, 102 toddlers, 230 adolescents, and 96 young adults – of whom 264 (45%) were diagnosed with ASD. We applied cortical nodes from a prior fMRI study identifying regions related to symptom severity scores and used these seeds to construct WM fiber tracts as connectome Edge Density (ED) maps. Resulting ED maps were assessed for between-group differences using voxel-wise and tract-based analysis. We then examined the association of ASD diagnosis with ED driven from functional nodes generated from different sensitivity thresholds. RESULTS: In ED derived from functionally guided tractography, we identified ASD-related changes in infants (p(FDR) ≤ 0.001-0.483). Overall, more wide-spread ASD-related differences were detectable in ED based on functional nodes with positive symptom correlation than negative correlation to ASD, and stricter thresholds for functional nodes resulted in stronger correlation with ASD among infants (z = -6.413 to 6.666, p(FDR) ≤ 0.001-0.968). Voxel-wise analysis revealed wide-spread ED reductions in central WM tracts of toddlers, adolescents, and adults. DISCUSSION: We detected early changes of aberrant WM development in infants developing ASD when generating microstructural connectome ED map with cortical nodes defined by functional imaging. These were not evident when applying structurally defined nodes, suggesting that functionally guided DTI-based tractography can help identify early ASD-related WM disruptions between cortical regions exhibiting abnormal connectivity patterns later in life. Furthermore, our results suggest a benefit of involving functionally informed nodes in diffusion imaging-based probabilistic tractography, and underline that different age cohorts can benefit from age- and brain development-adapted image processing protocols.

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28. Yamasue H. Is the efficacy of oxytocin for autism diminished at higher dosages or repeated doses?: Potential mechanisms and candidate solutions. Peptides. 2023: 171133.

No approved pharmacological intervention currently exists to address the core symptoms of autism spectrum disorder, a prevalent neurodevelopmental condition. However, there is a growing body of empirical evidence highlighting oxytocin’s modulatory effects on social and communicative behaviors. Numerous single-dose trials have consistently demonstrated the efficacy of oxytocin in ameliorating behavioral and neural measurements associated with the core symptoms of autism spectrum disorder. Nevertheless, prior investigations involving the repeated administration of oxytocin have yielded disparate findings concerning its effectiveness, particularly in relation to clinical measures of the core symptoms of autism spectrum disorder. Recent studies have also raised the possibility of diminishing efficacy of oxytocin over time, particularly when higher or recurrent dosages of oxytocin are administered. This review article aims to provide an overview of previous studies examining this issue. Furthermore, it aims to discuss the potential mechanisms underlying these effects, including the interaction between oxytocin and vasopressin, as well as potential strategies for addressing the challenges mentioned. This review’s overall objective is to provide insights into the potential development of innovative therapeutics to mitigate the core symptoms of autism spectrum disorder, representing potential breakthroughs in the treatment of this complex neurodevelopmental condition.

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29. Zadok E, Golan O, Lavidor M, Gordon I. Autonomic nervous system responses to social stimuli among autistic individuals: A systematic review and meta-analysis. Autism research : official journal of the International Society for Autism Research. 2023.

Physiological responses to environmental and social stimuli have been studied broadly in relation to psychological states and processes. This may be especially important regarding autistic individuals, who show disparities in social interactions. However, findings from studies assessing autonomic nervous system (ANS) responses of autistic individuals present contradictions, with reports showing both autonomic disparities and intact autonomic functioning. The current study aimed to review the existing literature and to estimate if there is a difference between autistic individuals and neurotypical (NT) individuals in their autonomic responses to social stimuli. Furthermore, the study examined factors that may moderate this difference, including the type of physiological function measured, the level of participation required, as well as the age and intellectual functioning of the participants. The meta-analysis revealed a small and statistically insignificant overall difference between autistic and NT individuals, albeit with high heterogeneity. A further nested moderator analysis revealed a significant difference between autistic and NT individuals in physiological response that reflects mainly a parasympathetic nervous system (PNS) activity. Another difference was found in physiological response that reflects a combined activity of the sympathetic and parasympathetic systems, but only for experimental tasks that demanded active participation in social interactions. These results suggest a distinctiveness in autonomic regulation of autistic individuals in social situations, and point to the PNS as an important study objective for future investigation.

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30. Zhao F, Ye S, Zhang M, Lv K, Qiao X, Li Y, Mao N, Ren Y, Zhang M. Multi-classifier fusion based on belief-value for the diagnosis of autism spectrum disorder. Frontiers in human neuroscience. 2023; 17: 1257987.

INTRODUCTION: Autism Spectrum Disorder (ASD) has a significant impact on the health of patients, and early diagnosis and treatment are essential to improve their quality of life. Machine learning methods, including multi-classifier fusion, have been widely used for disease diagnosis and prediction with remarkable results. However, current multi-classifier fusion methods lack the ability to measure the belief level of different samples and effectively fuse them jointly. METHODS: To address these issues, a multi-classifier fusion classification framework based on belief-value for ASD diagnosis is proposed in this paper. The belief-value measures the belief level of different samples based on distance information (the output distance of the classifier) and local density information (the weight of the nearest neighbor samples on the test samples), which is more representative than using a single type of information. Then, the complementary relationships between belief-values are captured via a multilayer perceptron (MLP) network for effective fusion of belief-values. RESULTS: The experimental results demonstrate that the proposed classification framework achieves better performance than a single classifier and confirm that the fusion method used can effectively fuse complementary relationships to achieve accurate diagnosis. DISCUSSION: Furthermore, the effectiveness of our method has only been validated in the diagnosis of ASD. For future work, we plan to extend this method to the diagnosis of other neuropsychiatric disorders.

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31. Zuckerman KE, Rivas Vazquez LA, Morales Santos Y, Fuchu P, Broder-Fingert S, Dolata JK, Bedrick S, Fernandez J, Fombonne E, Sanders BW. Provider perspectives on equity in use of mobile health autism screening tools. Autism : the international journal of research and practice. 2023: 13623613231215399.

Families may find information about autism online, and health care and education providers may use online tools to screen for autism. However, we do not know if online autism screening tools are easily used by families and providers. We interviewed primary care and educational providers, asking them to review results from online tools that screen for autism. Providers had concerns about how usable and accessible these tools are for diverse families and suggested changes to make tools easier to use.

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