1. Al-Enezi E, Alghamdi M, Al-Enezi K, AlBalwi M, Davies W, Eyaid W. Correction: Helsmoortel-Van der Aa syndrome in a 13-year-old girl with autistic spectrum disorder, dysmorphism, a right solitary kidney, and polycystic ovaries: a case report. J Med Case Rep. 2024; 18(1): 505.

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2. Alves CL, Martinelli T, Sallum LF, Rodrigues FA, Toutain T, Porto JAM, Thielemann C, Aguiar PMC, Moeckel M. Multiclass classification of Autism Spectrum Disorder, attention deficit hyperactivity disorder, and typically developed individuals using fMRI functional connectivity analysis. PLoS One. 2024; 19(10): e0305630.

Neurodevelopmental conditions, such as Autism Spectrum Disorder (ASD) and Attention Deficit Hyperactivity Disorder (ADHD), present unique challenges due to overlapping symptoms, making an accurate diagnosis and targeted intervention difficult. Our study employs advanced machine learning techniques to analyze functional magnetic resonance imaging (fMRI) data from individuals with ASD, ADHD, and typically developed (TD) controls, totaling 120 subjects in the study. Leveraging multiclass classification (ML) algorithms, we achieve superior accuracy in distinguishing between ASD, ADHD, and TD groups, surpassing existing benchmarks with an area under the ROC curve near 98%. Our analysis reveals distinct neural signatures associated with ASD and ADHD: individuals with ADHD exhibit altered connectivity patterns of regions involved in attention and impulse control, whereas those with ASD show disruptions in brain regions critical for social and cognitive functions. The observed connectivity patterns, on which the ML classification rests, agree with established diagnostic approaches based on clinical symptoms. Furthermore, complex network analyses highlight differences in brain network integration and segregation among the three groups. Our findings pave the way for refined, ML-enhanced diagnostics in accordance with established practices, offering a promising avenue for developing trustworthy clinical decision-support systems.

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3. Bilder DA, Sullivan S, Hughes MM, Dalton S, Hall-Lande J, Nicholls C, Bakian AV. Regional differences in autism and intellectual disability risk associated with cesarean section delivery. Autism Res. 2024.

Prior epidemiological studies investigating the association between delivery mode (i.e., vaginal birth and cesarean section [C-section]) and autism spectrum disorder (ASD) and intellectual disability (ID) risk have reported mixed findings. This study examined ASD and ID risks associated with primary and repeat C-section within diverse US regions. During even years 2000-2016, 8-years-olds were identified with ASD and/or ID and matched to birth records [ASD only (N = 8566, 83.6% male), ASD + ID (N = 3445, 79.5% male), ID only (N = 6158, 60.8% male)] using the Centers for Disease Control and Prevention’s Autism and Developmental Disabilities Monitoring Network methodology. The comparison birth cohort (N = 1,456,914, 51.1% male) comprised all births recorded in the National Center for Health Statistics corresponding to birth years and counties in which surveillance occurred. C-section rates in the birth cohort demonstrated significant regional variation with lowest rates in the West. Overall models demonstrate increased odds of disability associated with primary and repeat C-section. Adjusted models, stratified by region, identified significant variability in disability likelihood associated with repeat C-section: increased odds occurred for all case groups in the Southeast, for ASD only and ID only in the Mid-Atlantic, and no case groups in the West. Regional variability in disability risk associated with repeat C-section coincides with differences in birth cohorts’ C-section rates. This suggests increased likelihood of disability is not incurred by the procedure itself, but rather C-section serves as a proxy for exposures with regional variability that influence fetal development and C-section rates.

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4. Cillari N, Neri G, Pisanti N, Milazzo P, Borello U. RettDb: the Rett syndrome omics database to navigate the Rett syndrome genomic landscape. Database (Oxford). 2024; 2024.

Rett syndrome (RTT) is a neurodevelopmental disorder occurring almost exclusively in females and leading to a variety of impairments and disabilities from mild to severe. In >95% cases, RTT is due to mutations in the X-linked gene MECP2, but the molecular mechanisms determining RTT are unknown at present, and the complexity of the system is challenging. To facilitate and provide guidance to the unraveling of those mechanisms, we developed a database resource for the visualization and analysis of the genomic landscape in the context of wild-type or mutated Mecp2 gene in the mouse model. Our resource allows for the exploration of differential dynamics of gene expression and the prediction of new potential MECP2 target genes to decipher the RTT disorder molecular mechanisms. Database URL: https://biomedinfo.di.unipi.it/rett-database/.

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5. Darwesh MK, Bakr W, Omar TEI, El-Kholy MA, Azzam NF. Unraveling the relative abundance of psychobiotic bacteria in children with Autism Spectrum Disorder. Sci Rep. 2024; 14(1): 24321.

Autism Spectrum Disorder (ASD) is a complex neurodevelopmental disorder characterized by social deficits. Accumulated evidence has shown a link between alterations in the composition of gut microbiota and both neurobehavioural and gastrointestinal symptoms in children with ASD which are related to the genera Lactobacillus and Bifidobacterium. These genera have been recently categorized as « psychobiotics ». Moreover, this study aimed to compare the relative abundance of psychobiotics (L. plantarum, L. reuteri, and B. longum) to the total gut microbiome in typically developing (TD) children and those with ASD in order to correlate the distribution of psychobiotic with the severity and sensory impairments in autism. The ASD children were assessed using the Childhood Autism Rating Scale (CARS), while sensory impairments were evaluated using the Short Sensory Profile (SSP). Furthermore, the gut microbiome was analyzed using the quantitative real-time PCR. The study revealed a statistically significant increase in the relative abundance of L. reuteri and L. plantarum in the TD group in comparison to ASD children. Regarding the SSP total score of ASD children, a statistically significant negative correlation was found between both Lactobacillus and L. plantarum with the under-responsive subscale. For the Autism Treatment Evaluation Checklist (ATEC) score, B. longum and Lactobacillus showed a significant positive correlation with Health/Physical/Behaviour.

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6. Du G, Guo Y, Xu W. The effectiveness of applied behavior analysis program training on enhancing autistic children’s emotional-social skills. BMC Psychol. 2024; 12(1): 568.

BACKGROUND: This study focuses on the potential of Applied Behavior Analysis (ABA) to improve emotional and social skills in children with autism spectrum disorder. ABA is a well-established therapeutic approach that uses behavior modification techniques to encourage positive behaviors and reduce challenging ones. Despite its widespread use, further research is needed to better understand its specific impact on emotional and social development in autistic children. OBJECTIVE: This research aims to investigate an effective method for improving and enhancing institutionalized children’s social, communicative, and daily life skills. The study also examines the impact of behavioral analysis on these children’s social and emotional skills. METHOD: The research is categorized as applied in terms of objectives and quasi-experimental in data collection. It involves a control group, an experimental group, and a covariance analysis model. The research population consists of 100 volunteer boys aged 4 to 11 residing in institutional care in Wuhan during the year 2023. Among them, 60 individuals were selected and divided into control and experimental groups, each comprising 30 participants. Data for the study were collected using the kindergarten inventory of social/ emotional tendencies (KIST. The applied behavioral analysis program was implemented individually for the experimental group in eight one-hour sessions twice a week. FINDINGS: Data analysis was conducted using SPSS-24 software and a multivariate analysis of the covariance method. The results indicated that the behavioral analysis program significantly impacts institutionalized children’s social and communicative skills, improving their daily lives (p < .05). CONCLUSION: The findings of this study demonstrate that the applied behavior analysis program significantly improves the social, communicative, and daily life skills of institutionalized children with autism spectrum disorder. ABA interventions, delivered through structured sessions, effectively enhance emotional and social development, confirming its value as a therapeutic approach in institutional care settings.

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7. Dutta AK. Variable expressivity of Malan syndrome. BMJ Case Rep. 2024; 17(10).

We describe the family of a patient with developmental delay, macrocephaly, dysmorphic facial features and autism. His mother also shared similar facial features and macrocephaly but not his neurobehavioural issues. Subsequently, both the child and his mother were found to have a heterozygous frameshift variant NFIX: c.34_41dupGGGATACC. The child and his mother had many features consistent with a genetic diagnosis of Malan syndrome. Therefore, this family highlighted the variable expressivity of Malan syndrome.

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8. Gelmez P, Karakoc TE, Ulucan O. Autism Spectrum Disorder and Atypical Brain Connectivity: Novel Insights from Brain Connectivity-Associated Genes by Combining Random Forest and Support Vector Machine Algorithm. Omics. 2024.

It is estimated that approximately one in every 100 children is diagnosed with autism spectrum disorder (ASD) around the globe. Currently, there are no curative pharmacological treatments for ASD. Discoveries on key molecular mechanisms of ASD are essential for precision medicine strategies. Considering that atypical brain connectivity patterns have been observed in individuals with ASD, this study examined the brain connectivity-associated genes and their putatively distinct expression patterns in brain samples from individuals diagnosed with ASD and using an iterative strategy based on random forest and support vector machine algorithms. We discovered a potential gene signature capable of differentiating ASD from control samples with a 92% accuracy. This gene signature comprised 14 brain connectivity-associated genes exhibiting enrichment in synapse-related terms. Of these genes, 11 were previously associated with ASD in varying degrees of evidence. Notably, NFKBIA, WNT10B, and IFT22 genes were identified as ASD-related for the first time in this study. Subsequent clustering analysis revealed the existence of two distinct ASD subtypes based on our gene signature. The expression levels of signature genes have the potential to influence brain connectivity patterns, potentially contributing to the manifestation of ASD. Further studies on the omics of ASD are called for so as to elucidate the molecular basis of ASD and for diagnostic and therapeutic innovations. Finally, we underscore that advances in ASD research can benefit from integrative bioinformatics and data science approaches.

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9. Gevarter C, Gallegos E. Parent-implemented AAC verb symbol intervention with children with ASD. Augment Altern Commun. 2024: 1-13.

A multiple-probe across participants design was used to examine whether three young children diagnosed with autism spectrum disorder (ASD) could learn to use verb symbols presented on an AAC application to request actions. Using researcher coaching (involving joint planning, descriptive instructions, and guided practice) parents of participants were taught to (a) embed opportunities for children to request actions in daily home routines, (b) model AAC responses, (c) use a prompt hierarchy with a time delay, and (d) contingently reinforce correct aided AAC responses. Following intervention delivered by parents, all three participants increased their use of verb symbols to request actions and parents implemented procedures with high fidelity. There were, however, individualized differences in rate of acquisition, variability of responding, readiness for fading supports, and moving to more advanced skills. One of the three participants was able to master two-step responses involving navigation to a category folder. Generalization of requesting actions to labeling actions was limited.

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10. He Y, Wong A, Zhang Y, Lin J, Li H, Zhao B, Chen T, Huang S, Hu R, Liu G. Effects of Mozart-Orff parent-child music therapy among mothers and their preschool children with autism spectrum disorder: A mixed-methods randomised controlled trial. BMC Pediatr. 2024; 24(1): 665.

BACKGROUND: Autism spectrum disorder (ASD) negatively impacts mental health, particularly in mothers of autistic children who experience heightened stress. Applied behaviour analysis (ABA) and music therapy are recognised interventions for improving ASD symptoms. However, the specific benefits of parent-child music therapy and ABA for autistic children and their mothers remain uncertain. This study evaluated the effects of parent-child music therapy on preschool autistic children and their mothers. METHOD: A randomised controlled trial was conducted with 100 mother-child pairs assigned to either the control group receiving ABA or the intervention group receiving both music therapy and ABA. Qualitative interviews were conducted post-intervention for 12 mothers. RESULTS: Children in the intervention group exhibited lower scores for ASD symptoms than those in the control group. Moreover, mothers in the intervention group demonstrated reduced dysfunctional parent-child interaction, lower overall parental stress, significantly improved family functioning, and increased levels of hope compared with those in the control group. Mothers held positive views regarding music therapy. CONCLUSIONS: Combining ABA with parent-child music therapy can alleviate ASD symptoms in children and reduce stress in mothers. Improved parent-child interaction and enhanced family functioning further support the benefits of this combined approach. Parent-child music therapy, combined with ABA demonstrated positive outcomes for autistic children, including reduced ASD symptoms, improved parent-child interaction, decreased parental stress, enhanced family functioning, and increased hope. These findings highlight the potential of incorporating music therapy as a valuable component in the comprehensive treatment of ASD. TRIAL REGISTRATION: This study was registered in the Chinese Clinical Trial registry (05/07/2021, ChiCTR2100048261, https://www.chictr.org.cn/showproj.html?proj=128957 ). Ethical approval was obtained from the Research Ethics Committee of Fujian Medical University and the study hospital (Fujian Provincial Maternity and Child Health Hospital; 2017 - 105), and informed consent was obtained from all subjects and/or their legal guardian(s).

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11. Kenney CK, Sreckovic MA, Wallace M, Debbaudt D. Autism Training for Law Enforcement Officers: Perceptions From the Field. J Autism Dev Disord. 2024.

Autistic individuals and law enforcement officers are likely to engage under various circumstances within the community. Therefore, law enforcement officers require training on supporting those with autism and better understanding autistic behaviors. Aims for this study include: (1) developing and delivering high quality professional development on autism spectrum disorder (ASD) to support autistic individuals during encounters with law enforcement officers, and (2) examining how law enforcement officers respond to the professional development session. For this study a four-hour, in-person training on autism for law enforcement officers was developed. Law enforcement officers (n = 27) attended the training session. Subsequently, participants completed an open-ended survey gathering perceptions related to the topics covered in the training, thoughts on the feasibility and applicability of content, and transfer to future safety encounters involving autistic individuals. Data was analyzed using a qualitative approach including concept driven thematic coding with constant comparisons. Data yielded themes on experiences with the autistic community, strategies learned from the training, thoughts on specific content, and feedback on the training format. Overall, law enforcement officers reported they felt better prepared, more knowledgeable on the autistic community, and believed the strategies were feasible and applicable to the field. These findings point to the importance of training on autism and that law enforcement officers found it was time well spent. Future directions include examining how training transfers to practice in the field and ways to connect law enforcement officers with the autistic community outside of emergency response.

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12. Kim JH, Lee J, Shim S, Cheon KA. Association of self-harm and suicidality with psychiatric co-occurring conditions in autistic individuals: a systematic review and pooled analysis. EClinicalMedicine. 2024; 77: 102863.

BACKGROUND: Autistic individuals frequently experience psychiatric co-occurring conditions, but the association with self-harm/suicidality according to these conditions was not yet elucidated. We aimed to summarize the association between self-harm/suicidality and psychiatric co-occurring conditions in autistic people. METHODS: We systematically searched PubMed, Scopus, Embase, Web of Science, and Cochrane Database of Systematic Reviews until June 4, 2024 (PROSPERO registration number: CRD42023412860). Observational studies were included that provided information to calculate the odds ratio (OR) regarding the association between self-harm/suicidality and psychiatric co-occurring conditions in autistic individuals. We summarized the identified associations by presenting OR range or meta-analyzing when 7 or more estimates are available. FINDINGS: The systematic search found 20 eligible studies with 301,841 participants. Our findings suggested that autistic individuals with any psychiatric disorder (k = 1; OR 3.55; 95% CI 1.27-9.98), ADHD (k = 3; OR range: 1.07-1.65), or mood disorder (k = 1; OR 1.26; 95% CI 1.05-1.51) may be associated with higher odds of self-harm than those without these conditions. We identified potential positive associations between suicidality and the following co-occurring conditions: any psychiatric disorder (k = 1; OR 11.65; 95% CI 10.68-12.71), psychotic disorder (k = 4; OR range: 1.95-10.97), mood disorder (k = 3; OR range: 1.75-9.82), bipolar disorder (k = 2; OR range: 2.55-4.95), depressive disorder (k = 10; pooled OR 2.29; 95% CI 1.39-3.77), trauma- and stress-related disorder (k = 2; OR range: 1.28-10.47), and adjustment disorder (k = 1; OR 3.52; 95% CI 2.89-4.28). INTERPRETATION: We found psychiatric co-occurring conditions that may be associated with higher odds of self-harm/suicidality in autistic individuals. However, our findings should be interpreted with caution considering the limited number of included studies. We suggested that clinicians should remain vigilant for autistic individuals with psychiatric co-occurring conditions for their potentially higher likelihood of self-harm and suicidality. FUNDING: This research was supported by a grant of the R&D project, funded by the National Center for Mental Health (grant number: MHER22A01).

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13. Kim S, Jung HT, Thao SK. Communication, Socialization, and Literacy for Adults With Developmental Disabilities: An Interview Study of Parents’ Perspectives and Experiences. Am J Speech Lang Pathol. 2024: 1-18.

PURPOSE: The study highlights the significance of continuous support and services in communication, socialization, and literacy skills for adults with developmental disabilities (DDs). The aim of the study was to gather in-depth information on the individualized needs, lived experiences, and expectations of adults with DD by interviewing their parents. METHOD: A total of 14 parents of adults with DD participated in one-on-one semistructured interviews. During the interviews, parents were asked to describe (a) their children’s current communication, socialization, reading and writing skills; (b) the types of communication, socialization, and literacy support their children were receiving; and (c) the types of support that their children needed. Interviews were video- and audio-recorded, transcribed, and analyzed qualitatively using thematic analysis. RESULTS: Thematic analysis revealed three main themes and eight subthemes: (1) insufficient support and services for adults with DD (i.e., lack of competent professionals and lack of literacy support), (2) approaches that the parents attempted for their children with DD (i.e., parents’ responsibilities, technologies, and pseudoscience), and (3) recommendations for ongoing support and services (i.e., novel technologies, social media, and motivation). CONCLUSIONS: The study highlights crucial gaps between the participating parents’ desire for individualized, consistent, and innovative support and services for their adult children with DD and scarcity of resources in communication, socialization, and literacy. The dearth of evidence-based support and resources leads to easy access to pseudoscience. Future research is warranted to develop innovative, customized, and highly motivating programs in communication, socialization, and literacy for adults with DD. SUPPLEMENTAL MATERIAL: https://doi.org/10.23641/asha.27214407.

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14. Klein ME, Bangerter A, Halter RJ, Cooper K, Aguilar Z, Canuso CM, Drevets WC, Schmidt ME, Pandina G. Efficacy and safety of JNJ-42165279, a fatty acid amide hydrolase inhibitor, in adolescents and adults with autism spectrum disorder: a randomized, phase 2, placebo-controlled study. Neuropsychopharmacology. 2024.

JNJ-42165279, a highly selective and orally bioavailable fatty acid amide (FAA) hydrolase inhibitor, was evaluated for efficacy and safety in adolescents and adults with autism spectrum disorder (ASD) in this phase 2, double-blind, placebo-controlled, multicenter study (NCT03664232). Participants aged 13-35 years, with a diagnosis of ASD (Diagnostic and Statistical Manual of Mental Disorders, 5th edition; Autism Diagnostic Observation Schedule, 2nd edition) were randomized (1:1) to 12 weeks of treatment with JNJ-42165279 (25 mg, twice-daily) or placebo. Primary endpoints were the change in the Autism Behavior Inventory (ABI) Core Domain (ABI-CD), ABI-Social Communication (ABI-SC), and ABI-Repetitive/Restrictive Behavior (ABI-RB) scores from baseline to day 85. Of the 61 participants (16 female, 45 male) included in the efficacy analyses, 53 (87%) completed the double-blind treatment. At day 85, the JNJ-42165279 group did not show a statistically significant reduction in ASD symptoms versus placebo, as assessed with ABI-CD (p = 0.284), ABI-SC (p = 0.290), and ABI-RB (p = 0.231). However, the following secondary outcomes exhibited small to moderate changes directionally favoring JNJ-42165279: Social Responsiveness Scale 2 (SRS, p = 0.064), Repetitive Behavior Scale-Revised (RBS-R, p = 0.006), Zarit Burden Interview short version (ZBI, p = 0.063), Child Adolescent Symptom Inventory-Anxiety (CASI-Anx, p = 0.048), and Caregiver Global Impression of Severity (p = 0.075). Notably, versus placebo, JNJ-42165279-treated participants showed increased concentrations of FAAs throughout the treatment period, with those achieving elevated concentrations experiencing the greatest reduction in the SRS total score at day 85. JNJ-42165279 demonstrated an acceptable safety profile. Although primary endpoints were not met, JNJ-42165279 may have a therapeutic effect on certain aspects of core ASD symptoms.

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15. Matsui M, Lynch LE, Distefano I, Galante A, Gade AR, Wang HG, Gómez-Banoy N, Towers P, Sinden DS, Wei EQ, Barnett AS, Johnson K, Lima R, Rubio-Navarro A, Li AK, Marx SO, McGraw TE, Thornton PS, Timothy KW, Lo JC, Pitt GS. Multiple beta cell-independent mechanisms drive hypoglycemia in Timothy syndrome. Nat Commun. 2024; 15(1): 8980.

The canonical G406R mutation that increases Ca(2+) influx through the CACNA1C-encoded Ca(V)1.2 Ca(2+) channel underlies the multisystem disorder Timothy syndrome (TS), characterized by life-threatening arrhythmias. Severe episodic hypoglycemia is among the poorly characterized non-cardiac TS pathologies. While hypothesized from increased Ca(2+) influx in pancreatic beta cells and consequent hyperinsulinism, this hypoglycemia mechanism is undemonstrated because of limited clinical data and lack of animal models. We generated a Ca(V)1.2 G406R knockin mouse model that recapitulates key TS features, including hypoglycemia. Unexpectedly, these mice do not show hyperactive beta cells or hyperinsulinism in the setting of normal intrinsic beta cell function, suggesting dysregulated glucose homeostasis. Patient data confirm the absence of hyperinsulinism. We discover multiple alternative contributors, including perturbed counterregulatory hormone responses with defects in glucagon secretion and abnormal hypothalamic control of glucose homeostasis. These data provide new insights into contributions of Ca(V)1.2 channels and reveal integrated consequences of the mutant channels driving life-threatening events in TS.

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16. Mitchell LK, Heussler HS, Burgess CJ, Rehman A, Steinert RE, Davies PSW. Gastrointestinal, Behaviour and Anxiety Outcomes in Autistic Children Following an Open Label, Randomised Pilot Study of Synbiotics vs Synbiotics and Gut-Directed Hypnotherapy. J Autism Dev Disord. 2024.

Alterations of the microbiome-gut-brain (MGB) axis have been associated with autism spectrum disorder (ASD) and disorders of gut-brain interaction (DGBI). DGBI are highly prevalent in autistic children and are associated with worsening behaviour and anxiety. Treatments such as probiotics, prebiotics and gut-directed hypnotherapy (GDH) have shown efficacy in improving gut symptoms in children. The primary objective of the study was to compare changes in gastrointestinal (GI) scores following a 12-week intervention of synbiotics (prebiotic + probiotic) +/- GDH with a follow-up at 24 weeks. Secondary objectives included changes in behavioural and anxiety symptoms, while changes in gut microbiome composition were assessed as an exploratory objective. Children diagnosed with ASD aged 5.00-10.99 years (n = 40) were recruited and randomised (1:1) to a 12-week intervention of either synbiotics (SYN group) or synbiotics + GDH (COM group). Both the SYN and COM group experienced significant reductions in total GI scores post-intervention and at follow-up (p < 0.001), with no superiority of the COM treatment over the SYN treatment. The COM group showed beneficial reductions in anxiety scores (p = 0.002) and irritability behaviours (p < 0.001) which were not present in the SYN group. At follow-up, only those in the COM group maintained significant reductions in GI pain scores (p < 0.001). There were significant changes in gut microbiota such as increases in Bifidobacterium animalis and Dialister in both groups over time. In conclusion, synbiotics with or without GDH may help support standard care for autistic children who suffer comorbid DGBI. The trial was prospectively registered at clinicialtrials.gov on 16 November 2020 (NCTO4639141).

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17. Oller DK, Bene ER, Yoo H, Su PL, Long H, Klaiman C, Pulver SL, Richardson S, Pileggi ML, Brane N, Ramsay G. Acoustic features of vocalizations in typically developing and autistic infants in the first year. Res Dev Disabil. 2024; 154: 104849.

BACKGROUND: We describe acoustic patterns across the five most prominent vocal types in typically developing infants (TD) and compare them with patterns in infants who develop autism (ASD) or a developmental disability (DD) not related to autism. Infant-directed speech (IDS) is a potentially important influence on such vocal acoustic patterns. Both acoustic patterns and effects of IDS are important for understanding the earliest origins of communication disorders. AIMS: To compare duration, pitch and loudness of infant vocalizations for three groups of infants (TD, ASD, DD) in circumstances with high or low amounts of IDS. METHODS AND PROCEDURES: Two five-minute segments from each of 1259 all-day recordings across the first year were coded and acoustically analyzed for three groups of infants (130 TD, 44 ASD, 21 DD). Duration, mean fundamental frequency, and root mean square amplitude were determined for >162,000 infant utterances. OUTCOMES AND RESULTS: Cries were longest and loudest, and vowel-like sounds were shortest of the five vocal types in all groups. TD infants showed significant alterations in vocal acoustics during periods of high IDS. CONCLUSIONS AND IMPLICATIONS: Strong similarities in acoustic patterns occurred across the three groups, but only the TD group showed significant acoustic effects of IDS.

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18. Oppenheim D, Mottes-Peleg M, Hamburger L, Slonim M, Maccabi Y, Yirmiya N. The social skills of autistic boys in preschool: the contributions of their dyadic and triadic interactions with their parents. J Child Psychol Psychiatry. 2024.

BACKGROUND: The interactions of typically developing (TD) children within the family context are associated with their social skills in preschool, and the question guiding this study, which focused on boys, was whether the same would be true for autistic children. A specific focus was on the importance of the boys’ engagement in triadic, mother-father-child interactions over and above their engagement in dyadic, parent-child interactions. The boys’ social skills were assessed concurrently with their family interactions and one year later. METHODS: Seventy-five autistic preschooler boys (Age in months: M = 49.45, SD = 11.03) and both of their parents were recruited through treatment centers and social media. The boys’ dyadic engagement was assessed from observations of their interactions with their mothers and fathers (separately), and their triadic engagement from an observation of mother-father-child interactions. The boys’ social skills in preschool were assessed using a Q-sort completed by observers and teachers and by the Social Responsiveness Questionnaire (SRS) completed by teachers. RESULTS: Controlling for the severity of the boys’ symptoms and IQ, their dyadic engagement was associated with the concurrent observer Q-sort and teacher-reported SRS measures, and their triadic engagement did not explain additional variance in these measures. Predicting over one year, dyadic engagement was associated again with the observer Q-sort and teacher SRS measures, while the boys’ triadic engagement accounted for additional variance in these measures as well as the teacher Q-sort. Finally, boys’ dyadic engagement predicted gains in social skills on the observer Q-sort, and their triadic engagement was predictive of gains in the observer and teacher Q-sort. CONCLUSIONS: The engagement that autistic preschool-age boys displayed in the context of their dyadic and triadic interactions with their parents appears to be transferred to the preschool setting, and triadic interactions are of particular significance.

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19. Osaki T, Wan Z, Haratani K, Jin Y, Campisi M, Barbie DA, Kamm RD, Sur M. miR126-mediated impaired vascular integrity in Rett syndrome. bioRxiv. 2024.

Rett syndrome (RTT) is a neurodevelopmental disorder that is caused by mutations in melty-CpG binding protein 2 (MeCP2). MeCP2 is a non-cell type-specific DNA binding protein, and its mutation influences not only neural cells but also non-neural cells in the brain, including vasculature associated with endothelial cells. Vascular integrity is crucial for maintaining brain homeostasis, and its alteration may be linked to the pathology of neurodegenerative disease, but a non-neurogenic effect, especially the relationship between vascular alternation and Rett syndrome pathogenesis, has not been shown. Here, we recapitulate a microvascular network using Rett syndrome patient-derived induced pluripotent stem (iPS) cells that carry MeCP2[R306C] mutation to investigate early developmental vascular impact. To expedite endothelial cell differentiation, doxycycline (DOX)-inducible ETV2 expression vectors were inserted into the AAVS1 locus of Rett syndrome patient-derived iPS cells and its isogenic control by CRISPR/Cas9. With these endothelial cells, we established a disease microvascular network (Rett-dMVNs) and observed higher permeability in the Rett-dMVNs compared to isogenic controls, indicating altered barrier function by MeCP2 mutation. Furthermore, we unveiled that hyperpermeability is involved in the upregulation of miR126-3p in Rett syndrome patient-derived endothelial cells by microRNA profiling and RNAseq, and rescue of miR126-3p level can recover their phenotype. We discover miR126-3p-mediated vascular impairment in Rett syndrome patients and suggest the potential application of these findings for translational medicine.

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20. Somaraki M, de Lauzon-Guillain B, Camier A, Bernard JY, Tafflet M, Dufourg MN, Charles MA, Chabanet C, Tournier C, Nicklaus S. Timing of food pieces introduction and neurodevelopment: findings from a nationwide birth cohort. Int J Behav Nutr Phys Act. 2024; 21(1): 118.

BACKGROUND: While complementary feeding can be challenging, little emphasis has been placed on the introduction to food texture/pieces, especially in terms of neurodevelopmental outcomes. This study aims to determine the association between the timing of introduction to food pieces during infancy and neurodevelopment in early childhood. We hypothesized that late introduction to food texture/pieces relates to unfavorable neurodevelopmental outcomes. METHODS: Families (n = 18329) were recruited from the general population during the nationwide ELFE (Étude Longitudinale Française depuis l’Enfance) birth cohort in France, and 8511 were selected for a complete case analysis. Age at introduction to food pieces was determined based on repeated assessments during the first year. A range of neurodevelopmental outcomes among children were assessed using validated instruments, i.e. composite scores at 1 and 3.5 years, and a score for language acquisition at 2 years. Risk for developmental delay at 3.5 years was defined based on a developmental quotient (DQ) below 90 according to the child’s chronological age and the respective composite score at this age. We used linear regression modelling to evaluate associations between age at introduction to food pieces and the standardised neurodevelopmental scores, while logistic regression models were used in the analyses according to the risk for developmental delay. RESULTS: Our findings highlight consistent associations between late introduction to food pieces (i.e., after 10 months, compared to early (before 8 months)) and lower estimates of standardised neurodevelopmental scores at ages 1, 2 and 3.5 years (-0.35 [-0.40; -0.30], -0.15 [-0.20; -0.10] and - 0.18 [-0.23; -0.13], respectively). Infants introduced to pieces late were also more likely to be at risk for developmental delay according to DQ < 90 (OR [95%CI] = 1.62 [1.36; 1.94]). CONCLUSIONS: This study shows that late introduction to food pieces (> 10 months) is related to lower neurodevelopmental scores. Given the challenges that complementary feeding may pose, concerted efforts are required to enhance our understanding of the sensory aspects of early diets and to ultimately provide guidance.

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21. Tien Y, Wei LC. Expanding perspectives on figurative language processing in autism spectrum disorder: A commentary on Lampri et al.’s review. Autism Res. 2024.

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22. Yeh PW, Chiang CH, Lee CY. Processing of Emotional Words in Children and Adolescents with Autism Spectrum Disorders. J Autism Dev Disord. 2024.

Individuals with autism spectrum disorder (ASD) have difficulties in understanding emotional language, but little research has discussed the developmental course of the processing of emotional words in the clinical population. Previous studies have revealed distinct processing for emotion-label (e.g., happiness) and emotion-laden (e.g., birthday) words in typically developing (TD) children and adolescents. Extending these findings, the study used event-related potentials (ERPs) to explore the processing of these two types of emotional words in children and adolescents with ASD. The stimuli included two-character Chinese words with factors of word type (emotion-label versus emotion-laden) and valence (positive versus negative). The participants were 11 to 14-year-old children and adolescents with ASD (N = 23) and age-matched TD peers (N = 23). They categorized emotion valence for words while their brain responses were recorded. Both the TD and the ASD groups exhibited emotional processing for all emotional words across the N400 and late positivity component (LPC). The emotional processing was modulated by word type but varied with group and valence. A trend for group differences was observed in processing positive words at 500-600 ms. In particular, the emotion effects of positive emotion-label words were positively correlated with social dysfunction across all participants. These findings suggested that children and adolescents with ASD have a selective impairment in understanding emotional concepts from language. The ERP measurements may reflect atypical emotional word processing for individuals with higher autistic severity in positive valence contexts.

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