1. Arunachalam S, Steele A, Pelletier T, Luyster R. Do focused interests support word learning? A study with autistic and nonautistic children. Autism Res;2024 (Mar 11)

Although focused interests are often associated with a diagnosis of autism, they are common in nonautistic individuals as well. Previous studies have explored how these interests impact cognitive, social, and language development. While some research has suggested that strong interests can detract from learning (particularly for autistic children), newer research has indicated that they can be advantageous. In this pre-registered study, we asked whether focused interests support word learning in 44 autistic children and a vocabulary-matched sample of 44 nonautistic children (mean ages 58 and 34 months respectively). In a word-learning task administered over Zoom, children were exposed to an action labeled by a novel word. The action was either depicted by their focused interest or by a neutral image; stimuli were personalized for each child. At test, they were asked to identify the referent of the novel word, and their eye gaze was evaluated as a measure of learning. The preregistered analyses revealed an effect of focused interests, and post-hoc analyses clarified that autistic children learned the novel word in both the focused interest and neutral conditions, while nonautistic children only showed evidence of learning in the neutral condition. These results suggest that focused interests are not disruptive for vocabulary learning in autism, and thus they could be utilized in programming that supports early language learning in this population.

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2. Baiden KMP, Williams ZJ, Schuck RK, Dwyer P, Wang M. The Social Validity of Behavioral Interventions: Seeking Input from Autistic Adults. J Autism Dev Disord;2024 (Mar 12)

Many in the autistic community have expressed concerns regarding the use of behavioral interventions with autistic children, suggesting that these interventions may not be socially valid. Though behavioral interventions have evolved to be more naturalistic and child-centered, little structured research has been done to explicitly seek autistic perspectives on the acceptability of specific components of behavioral interventions. Autistic adults (N = 235) were recruited online to take the Autism Intervention Attitudes Scale (AIAS), a questionnaire designed to gather feedback on common intervention goals and practices. Results indicate that participants find goals and practices that highlight quality of life, safety, and autistic interactions acceptable, while those that focus on normalization based on neurotypical standards are not. An exploratory graph analysis revealed three communities of goals (« uncontroversial goals », « controversial goals », and « social goals »). Comparison between naturalistic and structured intervention components additionally showed that autistic participants favored naturalistic strategies. These findings are in line with known criticisms of behavioral intervention from autistic adults, but also provide more information on the specific ways in which behavioral interventions can be reformed. This information can guide professionals in the development of appropriate goals and decisions around intervention planning.

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3. Bieczek D, Ściślicka A, Bobowska A, Tomsia F, Wilczyński KM, Janas-Kozik M. Relationship of autistic traits and the severity of fear of the COVID-19 pandemic in the general population. Front Psychiatry;2024;15:1260444.

BACKGROUND: The aim of the study was to investigate the level of fear of the COVID-19 pandemic and to detect a possible correlation between the autistic traits and the level of fear and to learn about other factors that may affect the level of fear. METHODS: The study utilised a questionnaire and was conducted online in the period from 16.02.2021 to 11.06.2021. The test group consisted of 214 respondents with an average age of 23.78 years (95%CI: 22.48 – 25.08; max: 61, min: 14) from the general population. The study used The Autism-Spectrum Quotient (AQ) questionnaire to assess the degree of autistic traits in the general population and The Fear of COVID-19 Scale, which was used to assess the level of fear of COVID-19. RESULTS: Among the respondents, 9 people scored ≥32 on the AQ test and were considered to have a high degree of autistic traits. In multiple regression (R(2) = 0.1, p<0.0001), a positive relationship between the severity of fear of COVID-19 and the autistic traits (p=0.01) and age (p<0.001) was obtained. Additionally, a second multiple regression (R(2) = 0.1, p<0.000001) including the subscales of AQ was performed and a positive relationship between the severity of fear of COVID-19 and the difficulties in attention switching (p=0.0004) and age (p=0.00001) was obtained. CONCLUSION: People with higher autistic traits present greater fear of the COVID-19 pandemic. We suggest that it might be caused by cognitive stiffness and disorders in emotions regulation, according to the literature. The elderly also present higher levels of fear. The other variables did not affect the level of fear of the COVID-19 pandemic.

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4. Bjørklund G, Meguid NA, Hemimi M, Sahakyan E, Fereshetyan K, Yenkoyan K. The Role of Dietary Peptides Gluten and Casein in the Development of Autism Spectrum Disorder: Biochemical Perspectives. Mol Neurobiol;2024 (Mar 12)

This paper examines the role of dietary peptides gluten and casein in modulating brain function in individuals with autism spectrum disorder (ASD) from a biochemical perspective. Neurotransmitter systems and neural networks are crucial for brain function, and alterations at the biochemical level can contribute to the characteristic symptoms and behaviors of ASD. The paper explores how dietary peptides influence neurotransmitter systems and neural networks, highlighting their potential as interventions to improve brain function in ASD. The evidence suggests that dietary peptides can impact neurotransmitter synthesis, release, and receptor interactions, disrupting the balance of neurotransmitter systems and affecting neural network function. The findings underscore the potential of dietary interventions in modulating brain function in ASD and call for further research to elucidate the underlying mechanisms and optimize clinical practice. Considering individual dietary sensitivities and preferences, personalized dietary approaches may be necessary for optimal outcomes. Dietary interventions’ timing, duration, and integration with other evidence-based treatments are crucial considerations. Safety considerations and regular monitoring are important to ensure the implementation of dietary interventions safely and effectively.

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5. Butter CE, Goldie CL, Hall JH, Leadbitter K, Burkitt EMM, van den Bree MBM, Green JM. Experiences and concerns of parents of children with a 16p11.2 deletion or duplication diagnosis: a reflexive thematic analysis. BMC Psychol;2024 (Mar 12);12(1):137.

BACKGROUND: 16p11.2 proximal deletion and duplication syndromes (Break points 4-5) (593KB, Chr16; 29.6-30.2mb – HG38) are observed to have highly varied phenotypes, with a known propensity for lifelong psychiatric problems. This study aimed to contribute to a research gap by qualitatively exploring the challenges families with 16p11.2 deletion and duplication face by answering three research questions: (1) What are parents’ perceptions of the ongoing support needs of families with children who have 16p11.2 living in the UK?; (2) What are their experiences in trying to access support?; (3) In these regards, do the experiences of parents of children with duplication converge or vary from those of parents of children with 16p11.2 deletion? METHODS: 33 parents with children (aged 7-17 years) with 16p11.2 deletion or duplication participated in structured interviews, including the Autism Diagnostic Interview- Revised (ADI-R). Their answers to the ADI-R question ‘what are your current concerns’ were transcribed and subsequently analysed using Braun and Clarke’s six step reflexive thematic analysis framework. RESULTS: Three themes were identified: (1) Child is Behind Peers (subthemes: developmentally; academically; socially; emotionally); (2) Metabolism and Eating Patterns and; (3) Support (subthemes: insufficient support available; parent has to fight to access support; COVID-19 was a barrier to accessing support; 16p11.2 diagnosis can be a barrier to support, child is well-supported). CONCLUSIONS: Parents of children with either 16p11.2 deletion or duplication shared similar experiences. However, metabolism concerns were specific to parents of children with 16p11.2 deletion. The theme Child is Behind Peers echoed concerns raised in previous Neurodevelopmental Copy Number Variant research. However, there were some key subthemes relating to research question (2) which were specific to this study. This included parents’ descriptions of diagnostic overshadowing and the impact of a lack of eponymous name and scant awareness of 16p11.2.

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6. Carneiro T, Carvalho A, Frota S, Filipe MG. Serious Games for Developing Social Skills in Children and Adolescents with Autism Spectrum Disorder: A Systematic Review. Healthcare (Basel);2024 (Feb 20);12(5)

Serious games represent a promising avenue for intervention with children diagnosed with autism spectrum disorder, a neurodevelopmental disorder marked by persistent challenges in social communication and the presence of restricted, repetitive behaviors. Despite this potential, comprehensive reviews on this subject are scarce. This systematic review aims to evaluate the effectiveness of serious games and their specific characteristics in enhancing social skills among children and adolescents with autism. Employing PICO strategies and adhering to PRISMA guidelines, we screened 149 studies initially identified through PubMed and EBSCOhost databases. Nine studies met inclusion criteria and found a positive influence of serious games on social skills and related domains, encompassing emotion recognition/encoding/decoding, emotional regulation, eye gaze, joint attention, and behavioral skills. Nevertheless, despite these promising results, the limited available evidence underscores the need for rigorous study designs to consolidate findings and integrate evidence-based intervention strategies.

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7. Cook J, Hull L, Mandy W. Improving Diagnostic Procedures in Autism for Girls and Women: A Narrative Review. Neuropsychiatr Dis Treat;2024;20:505-514.

Biases exist in the diagnostic process for autism spectrum disorder (henceforth « autism »), which result in some girls and women being diagnosed later or missed entirely. Current diagnostic tools may not capture the full range of behavioural presentations of autism, leading to under-identification. This review explores why these biases may occur, and how diagnostic procedures could be adapted to better identify autistic girls and women. We recommend that diagnostic assessments are adjusted to capture a broader range of behavioural exemplars of autism; that camouflaging of autistic traits is taken into account; and that care is taken to ensure co-occurring mental health conditions do not overshadow autism diagnosis. We offer recommendations, building on gold-standard diagnostic guidelines, for how diagnostic procedures can be improved for girls and women.

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8. Faustmann LL, Altgassen M. A matter of precision? Scene imagery in individuals with high-functioning autism spectrum disorder. Autism Res;2024 (Mar 12)

The ability to create mental representations of scenes is essential for remembering, predicting, and imagining. In individuals with autism spectrum disorders (ASD) this ability may be impaired. Considering that autistic characteristics such as weak central coherence or reduced communication abilities may disadvantage autistic participants in traditional imagery tasks, this study attempted to use a novel task design to measure the ability of scene imagery. Thirty high-functioning adults with ASD and 27 non-autistic matched control adults were asked to describe imagined fictitious scenes using two types of scene imagery tasks. In a free imagery task, participants were asked to imagine a scene based on a given keyword. In a guided imagery task, participants had to imagine a scene based on a detailed description of the scene. Additionally, narrative abilities were assessed using the Narrative Scoring Scheme. Statistical analyses revealed no group effects in the free and guided imagery of fictional scenes. Participants with ASD performed worse than control participants in the narrative task. Narrative abilities correlated positively with performance in both imagery tasks in the ASD group only. Hence, individuals with ASD seem to show as good imagery abilities as non-autistic individuals. The results are discussed in the light of the differences between imagery and imagination and possible gender differences.

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9. Huang Q, Ellis CL, Leo SM, Velthuis H, Pereira AC, Dimitrov M, Ponteduro FM, Wong NML, Daly E, Murphy DGM, Mahroo OA, McAlonan GM. Retinal GABAergic alterations in adults with autism spectrum disorder. J Neurosci;2024 (Mar 14)

Alterations in γ-aminobutyric acid (GABA) have been implicated in sensory differences in individuals with autism spectrum disorder (ASD). Visual signals are initially processed in the retina and in this study we explored the hypotheses that the GABA-dependent retinal response to light is altered in individuals with ASD. Light-adapted electroretinograms (ERGs) were recorded from 61 adults (38 males and 23 females; n = 22 ASD) in response to three stimulus protocols: i) the standard white flash; ii) the standard 30-Hz flickering protocol; iii) the photopic negative response (PhNR) protocol. Participants were administered an oral dose of placebo, 15 or 30 mg of arbaclofen (STX209, GABA(B) agonist) in a randomized, double-blind, cross-over order before the test. At baseline (placebo), the a-wave amplitudes in response to single white flashes were more prominent in ASD, relative to typically developed (TD) participants. Arbaclofen was associated with decrease in the a-wave amplitude in ASD, but an increase in TD, eliminating the group difference observed at baseline. The extent of this arbaclofen-elicited shift significantly correlated with the arbaclofen-elicited shift in cortical responses to auditory stimuli as measured by electroencephalogram in our prior study, and with broader autistic traits measured with the Autism Quotient across the whole cohort. Hence, GABA-dependent differences in retinal light processing in ASD appear to be an accessible component of a wider autistic difference in central processing of sensory information, which may be upstream of more complex autistic phenotypes.Significance Statement Our current study provides the first direct in vivo experimental confirmation that autistic alterations in central GABA function extend to the retina. We show that arbaclofen was associated with reduced flash elicited a-wave amplitude in the electroretinogram (ERG) of autistic individuals but increased amplitude in non-autistic people. The retinal arbaclofen response correlated with previously reported arbaclofen effects on cortical visual and auditory responses in the same individuals. The extent of this differential GABAergic function correlated with the extent of autistic traits captured using the Autism Quotient. Thus, sensory processing differences in autism appear to be upstream of more complex autistic traits and the ERG from the retina is a potentially useful proxy for cross-domain brain GABA function and target engagement.

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10. Iqbal J, Huang GD, Xue YX, Yang M, Jia XJ. Role of estrogen in sex differences in memory, emotion and neuropsychiatric disorders. Mol Biol Rep;2024 (Mar 12);51(1):415.

Estrogen regulates a wide range of neuronal functions in the brain, such as dendritic spine formation, remodeling of synaptic plasticity, cognition, neurotransmission, and neurodevelopment. Estrogen interacts with intracellular estrogen receptors (ERs) and membrane-bound ERs to produce its effect via genomic and non-genomic pathways. Any alterations in these pathways affect the number, size, and shape of dendritic spines in neurons associated with psychiatric diseases. Increasing evidence suggests that estrogen fluctuation causes changes in dendritic spine density, morphology, and synapse numbers of excitatory and inhibitory neurons differently in males and females. In this review, we discuss the role of estrogen hormone in rodents and humans based on sex differences. First, we explain estrogen role in learning and memory and show that a high estrogen level alleviates the deficits in learning and memory. Secondly, we point out that estrogen produces a striking difference in emotional memories in men and women, which leads them to display sex-specific differences in underlying neuronal signaling. Lastly, we discuss that fluctuations in estrogen levels in men and women are related to neuropsychiatric disorders, including schizophrenia, autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), bipolar disorder (BPD), major depressive disorder (MDD), substance use disorder (SUD), and anxiety disorders.

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11. Kalvin CB, Jordan R, Rowley S, Weis AL, Ibrahim K, Sukhodolsky DG. Aggression Is Associated With Social Adaptive Functioning in Children With ASD and Anxiety. Focus Autism Other Dev Disabl;2023 (Sep);38(3):168-176.

Social adaptive functioning is notably compromised and may be further impaired by aggressive behavior in children with autism spectrum disorder (ASD). This study examined the association between aggressive behavior and social adaptive skills in children with ASD and the contribution of aggressive behavior to social adaptive skills in a combined sample of children with and without ASD. Participants consisted of children, ages 8 to 15 years, with ASD (n = 52) and who were typically developing (n = 29). Results indicate that aggressive behavior is negatively associated with social adaptive skills in children with ASD and that it contributes to reduced social adaptive functioning above and beyond ASD diagnosis. Findings underscore the importance of considering the role of aggressive behavior when evaluating and promoting social functioning in children with ASD.

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12. Li H, Dang Y, Yan Y. Serum interleukin-17 A and homocysteine levels in children with autism. BMC Neurosci;2024 (Mar 12);25(1):17.

BACKGROUND: Autism Spectrum Disorder (ASD) is a neurodevelopmental condition that typically emerges early in childhood. This study aimed to explore the potential link between serum levels of vitamin B12 and homocysteine (Hcy) and the severity of ASD symptoms in children. METHODS: In this study, 50 children diagnosed with ASD comprised the observation group, while 50 healthy children constituted the control group. Serum levels of IL-17 A, Hcy, folate, and vitamin B12 were compared between the study group and control group, as well as among children with different degrees of ASD severity. The correlation between the Childhood Autism Rating Scale (CARS) score and serum levels of IL-17 A, Hcy, folate, and vitamin B12 was examined. Additionally, the relationship between serum IL-17 A and Hcy levels and their association with the severity ASD were explored. RESULTS: Compared to the control group, the observation group demonstrated elevated serum Hcy and IL-17 A levels alongside decreased folate and vitamin B12 levels. Individuals with severe ASD exhibited higher Hcy and IL-17 A levels but lower folate and vitamin B12 levels compared to those with mild to moderate ASD. The CARS score showed negative correlations with serum folate and vitamin B12 levels and positive correlations with serum IL-17 A and Hcy levels in ASD patients. Additionally, serum Hcy and IL-17 A levels were correlated with ASD severity. CONCLUSION: Children diagnosed with ASD presented with reduced serum vitamin B12 levels and increased levels of Hcy, potentially contributing to the onset and severity of ASD.

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13. Li LY, Imai A, Izumi H, Inoue R, Koshidaka Y, Takao K, Mori H, Yoshida T. Differential contribution of canonical and noncanonical NLGN3 pathways to early social development and memory performance. Mol Brain;2024 (Mar 12);17(1):16.

Neuroligin (NLGN) 3 is a postsynaptic cell adhesion protein organizing synapse formation through two different types of transsynaptic interactions, canonical interaction with neurexins (NRXNs) and a recently identified noncanonical interaction with protein tyrosine phosphatase (PTP) δ. Although, NLGN3 gene is known as a risk gene for neurodevelopmental disorders such as autism spectrum disorder (ASD) and intellectual disability (ID), the pathogenic contribution of the canonical NLGN3-NRXN and noncanonical NLGN3-PTPδ pathways to these disorders remains elusive. In this study, we utilized Nlgn3 mutant mice selectively lacking the interaction with either NRXNs or PTPδ and investigated their social and memory performance. Neither Nlgn3 mutants showed any social cognitive deficiency in the social novelty recognition test. However, the Nlgn3 mutant mice lacking the PTPδ pathway exhibited significant decline in the social conditioned place preference (sCPP) at the juvenile stage, suggesting the involvement of the NLGN3-PTPδ pathway in the regulation of social motivation and reward. In terms of learning and memory, disrupting the canonical NRXN pathway attenuated contextual fear conditioning while disrupting the noncanonical NLGN3-PTPδ pathway enhanced it. Furthermore, disruption of the NLGN3-PTPδ pathway negatively affected the remote spatial reference memory in the Barnes maze test. These findings highlight the differential contributions of the canonical NLGN3-NRXN and noncanonical NLGN3-PTPδ synaptogenic pathways to the regulation of higher order brain functions associated with ASD and ID.

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14. Li X, Fu Q, Zhong M, Long Y, Zhao F, Huang Y, Zhang Z, Wen M, Chen K, Chen R, Ma X. Quantitative proteomics of the miR-301a/SOCS3/STAT3 axis reveals underlying autism and anxiety-like behavior. Mol Ther Nucleic Acids;2024 (Mar 12);35(1):102136.

Autism is a widespread neurodevelopmental disorder. Although the research on autism spectrum disorders has been increasing in the past decade, there is still no specific answer to its mechanism of action and treatment. As a pro-inflammatory microRNA, miR-301a is abnormally expressed in various psychiatric diseases including autism. Here, we show that miR-301a deletion and inhibition exhibited two distinct abnormal behavioral phenotypes in mice. We observed that miR-301a deletion in mice impaired learning/memory, and enhanced anxiety. On the contrary, miR-301a inhibition effectively reduced the maternal immune activation (MIA)-induced autism-like behaviors in mice. We further demonstrated that miR-301a bound to the 3’UTR region of the SOCS3, and that inhibition of miR-301a led to the upregulation of SOCS3 in hippocampus. The last result in the reduction of the inflammatory response by inhibiting phosphorylation of AKT and STAT3, and the expression level of IL-17A in poly(I:C)-induced autism-like features in mice. The obtained data revealed the miR-301a as a critical participant in partial behavior phenotypes, which may exhibit a divergent role between gene knockout and knockdown. Our findings ascertain that miR-301a negatively regulates SOCS3 in MIA-induced autism in mice and could present a new therapeutic target for ameliorating the behavioral abnormalities of autism.

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15. Liu W, Zhang Y, Zhang B, Xiong Q, Zhao H, Li S, Liu J, Bian Y. Self-Guided DMT: Exploring a Novel Paradigm of Dance Movement Therapy in Mixed Reality for Children with ASD. IEEE Trans Vis Comput Graph;2024 (Mar 12);Pp

Children diagnosed with Autism Spectrum Disorder (ASD) often exhibit motor disorders. Dance Movement Therapy (DMT) has shown great potential for improving the motor control ability of children with ASD. However, traditional DMT methods often lack vividness and are difficult to implement effectively. To address this issue, we propose a Mixed Reality DMT approach, utilizing interactive virtual agents. This approach offers immersive training content and multi-sensory feedback. To improve the training performance of children with ASD, we introduce a novel training paradigm featuring a self-guided mode. This paradigm enables the rapid creation of a virtual twin agent of the child with ASD using a single photo to embody oneself, which can then guide oneself during training. We conducted an experiment with the participation of 24 children diagnosed with ASD (or ASD propensity), recording their training performance under various experimental conditions. Through expert rating, behavior coding of training sessions, and statistical analysis, our findings revealed that the use of the twin agent for self-guidance resulted in noticeable improvements in the training performance of children with ASD. These improvements were particularly evident in terms of enhancing movement quality and refining overall target-related responses. Our study holds clinical potential in the field of medical treatment and rehabilitation for children with ASD.

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16. McLean KJ, Haas M, Koenig J, Horvath M, Vigil M, Werner NE, Bishop L. « I’m dealing with a health care system that doesn’t get it »: Barriers and facilitators to inclusive healthcare for autistic adults. Autism;2024 (Mar 12):13623613241236380.

Research has suggested that autistic adults may have a bigger chance of having mental health and physical health conditions such as depression, anxiety, sleep disorders, diabetes, obesity, and heart problems than adults without autism. Unfortunately, the unique healthcare needs of autistic adults are often overlooked, so it is not clear why autistic adults have worse health or what can be done to improve it. This study wants to find out the challenges autistic adults experience in taking care of their health and in going to different doctors. Researchers interviewed autistic adults across the country about their healthcare experiences. The interviewed autistic adults told the researchers about the barriers (things that did not help) and facilitators (things that did help) that impacted whether they received the care they needed. The researchers then organized what they learned from the autistic adults into a model called the Systems Engineering Initiative for Patient Safety model of work system and patient safety. This model explains how different parts of a healthcare system (person, tasks, technology and tools, environment, and organization) interact with one another and impact the healthcare experiences and outcomes of the patients in their care, like autistic adults. Overall, this study advocates for a systems-level approach to improving the healthcare experiences of autistic adults and their health outcomes.

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17. Milton DE, Green J. Theorising autism. Autism;2024 (Mar 11):13623613241235786.

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18. Patel N, Berggren KN, Hung M, Bates K, Dixon MM, Bax K, Adams H, Butterfield RJ, Campbell C, Johnson NE. Neurobehavioral Phenotype of Children With Congenital Myotonic Dystrophy. Neurology;2024 (Mar 12);102(5):e208115.

BACKGROUND AND OBJECTIVES: To describe the neurobehavioral phenotype of congenital myotonic dystrophy. Congenital myotonic dystrophy (CDM) is the most severe form of myotonic dystrophy, characterized by symptom presentation at birth and later, cognitive impairment, autistic features, and disordered sleep. METHODS: The neurobehavioral phenotype was assessed in this cross-sectional study by a neuropsychological battery consisting of the Wechsler Preschool and Primary Scale of Intelligence, Third Edition, Weschler Intelligence Scale for Children, Fourth Edition, Vineland Adaptive Behavior Scale, Second Edition (Vineland-II), Behavior Rating Inventory of Executive Function including preschool and teacher reports, Autism Spectrum Screening Questionnaire, Social Communication Scale, and Repetitive Behavior Scale-Revised. Sleep quality was evaluated with the Pediatric Sleep Questionnaire and Pediatric Daytime Sleepiness Scale. RESULTS: Fifty-five children with CDM, ages 5 weeks to 14 years, were enrolled. The mean age and (CTG)(n) repeats (±SD) were 6.4 ± 3.8 years and 1,263 ± 432, respectively. The mean IQ was 64.1 ± 14.9 on the Weschler scales with 65.6% of participants falling in the extremely low range for IQ. Adaptive functioning was significantly low for 57.1% of participants (n = 20). Caregiver report of executive functioning indicated 23.1% (9/39) of participants had clinically elevated levels of dysfunction, though teacher report was discrepant and indicated 53.3% of participants with CDM fell in this range (8/15). Spearman correlations were strongly positive (p ≤ 0.05) for estimated full scale IQ, overall adaptive functioning and with daily living and socialization domain standard scores on the Vineland-II ranging from r = 0.719 to r = 0.849 for all ages. Aspects of executive function were directly related to features of autism and sleep quality. Social communication was inversely related to all aspects of daily functioning, except communication, and directly related to aspects of autism behavior. DISCUSSION: Depressed IQ, adaptive skills, and executive functioning, poor sleep quality, and features of autism and altered social functioning individually describe different aspects of the neurobehavioral phenotype in CDM. These neurobehavioral and sleep measures could help quantitatively measure and assess the burden of cognitive impairment in CDM.

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19. Peterson T, Dodson J, Strale F, Jr. Predicting Behavioral Target Mastery With Age, Intensity and Duration, Open Targets, and Maintenance Failure With Applied Behavior Analysis in Individuals With Autism. Cureus;2024 (Feb);16(2):e53964.

Background Researchers have studied the effects of age, treatment intensity, and treatment duration with applied behavior analysis (ABA) outcomes in autistic individuals. This study’s primary objective was to evaluate the predictive capabilities of age, intensity, and duration of treatment, open behavioral targets, and behavior maintenance failure on behavioral target mastery. Methods A retrospective cohort of 100 autistic individuals treated with ABA with functional analysis and discrete trial training, mass trials, and naturalistic training were treated and analyzed. Target behavioral mastery data was collected via a retrospective chart review contained within the « Catalyst » tracking software. ABA treatment was administered for three months between March 19, 2023, and June 11, 2023. Multiple linear regression was performed using the percentage of behavioral targets mastered as the dependent variable. The independent variables were age, average trials to behavioral mastery, average teaching days to behavioral mastery, and percentage of behavioral targets that failed in maintenance. Results The multiple linear regression model was statistically significant (R=0.443, R²=0.196, adjusted R(2)=0.150, F(5, 87)=4.239, p=0.002). The average teaching days to mastery (β=0.416, p=0.019) and percentage of targets failed in maintenance (β=0.201, p=0.047) significantly predicted the percentage of behavioral targets mastered. However, age (β=0.079, p=0.419), average trials to mastery (β=-0.271, p=0.114), and open targets (β=0.184, p=0.081) did not significantly predict the percentage of behavioral targets mastered. The analysis of variance (ANOVA) resulted in non-significant (p>0.05) age group differences between the above variables. Conclusions The predictor variables average teaching days to mastery (intensity and duration) and percentage of targets failed in maintenance had a statistically significant effect on the percentage of behavioral targets mastered. The predictor variables age, average trials to behavioral mastery (intensity and duration), and open behavioral targets had a non-significant influence on the percentage of behavioral targets mastered. A non-significant difference between age groups was found in all study variables.

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20. Ramos Benitez J, Kannan S, Hastings WL, Parker BJ, Willbrand EH, Weiner KS. Ventral temporal and posteromedial sulcal morphology in autism spectrum disorder. Neuropsychologia;2024 (Mar 12);195:108786.

Two parallel research tracks link the morphology of small and shallow indentations, or sulci, of the cerebral cortex with functional features of the cortex and human cognition, respectively. The first track identified a relationship between the mid-fusiform sulcus (MFS) in ventral temporal cortex (VTC) and cognition in individuals with Autism Spectrum Disorder (ASD). The second track identified a new sulcus, the inframarginal sulcus (IFRMS), that serves as a tripartite landmark within the posteromedial cortex (PMC). As VTC and PMC are structurally and functionally different in ASD, here, we integrated these two tracks and tested if there are morphological differences in VTC and PMC sulci in a sample of young (5-17 years old) male participants (50 participants with ASD and 50 neurotypical controls). Our approach replicates and extends recent findings in four ways. First, regarding replication, the standard deviation (STD) of MFS cortical thickness (CT) was increased in ASD. Second, MFS length was shorter in ASD. Third, the CT STD effect extended to other VTC and to PMC sulci. Fourth, additional morphological features of VTC sulci (depth, surface area, gray matter volume) and PMC sulci (mean CT) were decreased in ASD, including putative tertiary sulci, which emerge last in gestation and continue to develop after birth. To our knowledge, this study is the most extensive comparison of the sulcal landscape (including putative tertiary sulci) in multiple cortical expanses between individuals with ASD and NTs based on manually defined sulci at the level of individual hemispheres, providing novel targets for future studies of neurodevelopmental disorders more broadly.

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21. Santhanam SP, Wilson K. A Comparison of Autistic and Non-Autistic College Students’ Perceived Challenges and Engagement in Self-Advocacy. Am J Speech Lang Pathol;2024 (Mar 12):1-14.

PURPOSE: Autistic students experience lower college graduation rates than their peers, affecting future opportunities. Self-advocacy is crucial for successful adaptation in postsecondary settings and is documented as a challenge for autistic students. The purpose of the study was to examine autistic college students’ engagement in self-advocacy and specific college-related challenges as compared to their neurodivergent and neurotypical peers. METHOD: This study used a cross-sectional survey design to compare perceptions related to self-advocacy and college-related challenges across three groups of students: autistic students, students with a disability other than autism, and nondisabled students. Descriptive and inferential statistics were used to compare survey responses across groups. RESULTS: Differences in the groups’ perceptions of their engagement in overall self-advocacy and specific self-advocacy strategies were evident. Autistic students rated themselves significantly lower on self-advocacy than did students with other disabilities. When compared to their nondisabled peers, the autistic students and those with other disabilities were less likely to report comfort interacting in the classroom, including less interest in group work, and more difficulty interacting with unfamiliar peers. In addition, the autistic students were more likely to report difficulty recognizing the need for academic assistance when compared to both peer groups. Autistic students also reported greater social challenges in the college setting than their nondisabled peers, and both neurodivergent groups of students reported significantly more challenges, overall, navigating the college setting than did their nondisabled peers. CONCLUSIONS: Findings highlight the need for systematic, individualized self-advocacy supports for autistic and other neurodivergent college students. In addition, findings show the need to educate peers and professors about autism and self-advocacy to foster a welcoming college environment. Finally, findings suggest the need for increased social support and opportunities for social integration within postsecondary settings. Speech-language pathologists play a critical role in implementing these next steps.

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22. Terol AK, Xia Y, Jara RLR, Meadan H. Demographic and autism characteristics as predictors of age of autism diagnosis of individuals with autism in Paraguay. Autism;2024 (Mar 12):13623613241236527.

Autism is a lifelong condition characterized by repetitive behaviors and social communication differences. The reported cases of autism increased globally in the past years. Detecting autism early and providing appropriate supports promptly are crucial for better outcomes. Yet, little research focuses on what factors interplay in the diagnostic process of autistic children in Paraguay. We gathered data from 176 caregivers of autistic children under 18 years in Paraguay. Through a detailed analysis, we found that child’s age, child’s age at the caregiver’s first concerns about their development, and the child’s verbal skills are key in predicting the age of autism diagnosis in Paraguay. Educating caregivers and professionals about autism and social communication development can help identify autism early and provide timely support.

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23. Wiltrout K, Brimble E, Poduri A. Comprehensive phenotypes of patients with SYNGAP1-related disorder reveals high rates of epilepsy and autism. Epilepsia;2024 (Mar 12)

OBJECTIVE: To delineate the comprehensive phenotypic spectrum of SYNGAP1-related disorder in a large patient cohort aggregated through a digital registry. METHODS: We obtained de-identified patient data from an online registry. Data were extracted from uploaded medical records. We reclassified all SYNGAP1 variants using American College of Medical Genetics criteria and included patients with pathogenic/likely pathogenic (P/LP) single nucleotide variants or microdeletions incorporating SYNGAP1. We analyzed neurodevelopmental phenotypes, including epilepsy, intellectual disability (ID), autism spectrum disorder (ASD), behavioral disorders, and gait dysfunction for all patients with respect to variant type and location within the SynGAP1 protein. RESULTS: We identified 147 patients (50% male, median age 8 years) with P/LP SYNGAP1 variants from 151 individuals with data available through the database. One hundred nine were truncating variants and 22 were missense. All patients were diagnosed with global developmental delay (GDD) and/or ID, and 123 patients (84%) were diagnosed with epilepsy. Of those with epilepsy, 73% of patients had GDD diagnosed before epilepsy was diagnosed. Other prominent features included autistic traits (n = 100, 68%), behavioral problems (n = 100, 68%), sleep problems (n = 90, 61%), anxiety (n = 35, 24%), ataxia or abnormal gait (n = 69, 47%), sensory problems (n = 32, 22%), and feeding difficulties (n = 69, 47%). Behavioral problems were more likely in those patients diagnosed with anxiety (odds ratio [OR] 3.6, p = .014) and sleep problems (OR 2.41, p = .015) but not necessarily those with autistic traits. Patients with variants in exons 1-4 were more likely to have the ability to speak in phrases vs those with variants in exons 5-19, and epilepsy occurred less frequently in patients with variants in the SH3 binding motif. SIGNIFICANCE: We demonstrate that the data obtained from a digital registry recapitulate earlier but smaller studies of SYNGAP1-related disorder and add additional genotype-phenotype relationships, validating the use of the digital registry. Access to data through digital registries broadens the possibilities for efficient data collection in rare diseases.

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24. Wolfson SS, Kirk I, Waldie K, King C. EEG Complexity Analysis of Brain States, Tasks and ASD Risk. Adv Neurobiol;2024;36:733-759.

Autism spectrum disorder is an increasingly prevalent and debilitating neurodevelopmental condition and an electroencephalogram (EEG) diagnostic challenge. Despite large amounts of electrophysiological research over many decades, an EEG biomarker for autism spectrum disorder (ASD) has not been found. We hypothesized that reductions in complex dynamical system behaviour in the human central nervous system as part of the macroscale neuronal function during cognitive processes might be detectable in whole EEG for higher-risk ASD adults. In three studies, we compared the medians of correlation dimension, largest Lyapunov exponent, Higuchi’s fractal dimension, multiscale entropy, multifractal detrended fluctuation analysis and Kolmogorov complexity during resting, cognitive and social skill tasks in 20 EEG channels of 39 adults over a range of ASD risk. We found heterogeneous complexity distribution with clusters of hierarchical sequences pointing to potential cognitive processing differences, but no clear distinction based on ASD risk. We suggest that there is indication of statistically significant differences between complexity measures of brain states and tasks. Though replication of our studies is needed with a larger sample, we believe that our electrophysiological and analytic approach has potential as a biomarker for earlier ASD diagnosis.

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