1. Desai K, Sumie M, Yang A, Englesakis M, Maynes JT, Aoyama K. Is there any impact of association between labor neuraxial analgesia and autism spectrum disorders in offspring at the population level?. J Anesth;2024 (Jun 21)

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2. Fan Q, Ding M, Cheng W, Su L, Zhang Y, Liu Q, Wu Z. The clinical effects of Orff music therapy on children with autism spectrum disorder: a comprehensive evaluation. Front Neurol;2024;15:1387060.

OBJECTIVE: This study aimed to investigate the clinical effects of Orff music therapy on children with Autism Spectrum Disorder (ASD) from the perspectives of parents, evaluators, and therapists. METHODS: 93 children with ASD aged 3-6 years participated in the study. They were divided into an observation group (n = 48) receiving comprehensive rehabilitation intervention including Orff music therapy, and a control group (n = 45) receiving only comprehensive rehabilitation intervention. The Autism Behavior Checklist (ABC), Childhood Autism Rating Scale (CARS), and Psycho-educational Profile-3rd edition (PEP-3) were used for assessments before and after the intervention. RESULTS: There were no significant demographic differences between the two groups. Both groups showed significant improvements in Sensory, Relating, Language, CVP, EL, RL, VMI, AE, SR, and CARS scores at T1, T2, and T3 (T1 vs. T2, T2 vs. T3, T1 vs. T3) (all p < 0.05). The observation group demonstrated significant changes in Body and Object use and FM, while the control group showed some changes in these domains. Social and self-help, GM, CMB, and CVB also significantly improved in both groups after 6 months of intervention (all p < 0.05). In terms of different time intervals, the observation group showed greater improvements in Sensory, Relating, Language, CARS scores, EL, RL, and SR compared to the control group (all p < 0.05). The improvement levels in Body and Object use, CVP, FM, VMI, and AE did not differ significantly between the two groups in the T1-T2 interval, but were significantly higher in the observation group in the T2-T3 and T1-T3 intervals (all p < 0.05). The magnitude of changes in Social and self-help, GM, CMB, and CVB did not differ significantly between the groups. CONCLUSION: Orff music therapy showed significant improvements in language expression, language comprehension, social skills, cognitive abilities, imitation abilities, emotional expression and fine motor in children with ASD. These findings provide support for the use of Orff music therapy as an effective intervention for children with ASD.

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3. Fogler JM, Armstrong-Brine M, Baum R, Ratliff-Schaub K, Howe YJ, Campbell L, Soares N. Online Autism Diagnostic Evaluation: Its Rise, Promise, and Reasons for Caution. J Dev Behav Pediatr;2024 (May-Jun 01);45(3):e263-e266.

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4. Kakuszi B, Szuromi B, Tóth M, Bitter I, Czobor P. Alterations in resting-state gamma-activity is adults with autism spectrum disorder: A High-Density EEG study. Psychiatry Res;2024 (Jun 14);339:116040.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder with a wide range of symptoms that include deficits in social cognition and difficulties with social interactions. Neural oscillations in the EEG gamma band have been proposed as an important candidate neurobiological marker of higher order cognitive processes and social interactions. We investigated resting-state gamma-activity of patients with ASD (n=23) in order to delineate alterations as compared to typically developing (TD) subjects (n=24). EEG absolute power was examined in the gamma (30-100Hz) frequency band. We found significantly reduced spectral power across the entire gamma range in the ASD group. The decrease was most pronounced over the inferior-frontal and temporo-parietal junction areas. We also found a significant decrease in gamma-activity over the dorsolateral prefrontal cortex, especially in the left side. Since these brain areas have been associated with social functioning, the reduced gamma-activity in ASD may represent a cortical dysfunction that could underlie a diminished capacity to interpret socially important information, thereby interfering with social functioning. The alterations we found may lend support for an improved diagnosis. Furthermore, they can lead to focused therapies, by targeting the dysfunctional brain activity to improve social cognitive and interaction abilities that are compromised in ASD.

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5. Macpherson MC, Brown AJ, Kallen RW, Richardson MJ, Miles LK. Partner gaze shapes the relationship between symptoms of psychopathology and interpersonal coordination. Sci Rep;2024 (Jun 21);14(1):14288.

Interpersonal coordination is a key determinant of successful social interaction but can be disrupted when people experience symptoms related to social anxiety or autism. Effective coordination rests on individuals directing their attention towards interaction partners. Yet little is known about the impact of the attentional behaviours of the partner themselves. As the gaze of others has heightened salience for those experiencing social anxiety or autism, addressing this gap can provide insight into how symptoms of these disorders impact coordination. Using a novel virtual reality task, we investigated whether partner gaze (i.e., direct vs. averted) influenced the emergence of interpersonal coordination. Results revealed: (i) spontaneous coordination was diminished in the averted (cf. direct) gaze condition; (ii) spontaneous coordination was positively related to symptoms of social anxiety, but only when partner gaze was averted. This latter finding contrasts the extant literature and points to the importance of social context in shaping the relationship between symptoms of psychopathology and interpersonal coordination.

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6. Miyakawa J, Yamada Y, Hakozaki Y, Makino K, Kamei J, Taguchi S, Kawai T, Akiyama Y, Yamada D, Kume H. Comparison of PDD-TURBT alone versus white light TURBT plus intravesical BCG therapy: a propensity-score matching study. Photodiagnosis Photodyn Ther;2024 (Jun 18):104254.

BACKGROUND: Although photodynamic-diagnosed transurethral resection of bladder cancer (PDD-TURBT) and Bacillus Calmette-Guérin (BCG) intravesical instillation are the two representative therapies for non-muscle invasive bladder cancer (NMIBC), no studies directly compare their efficacy. We evaluated the outcome of PDD-TURBT alone compared with white light TURBT with intravesical BCG therapy andanalyzed theefficacy of both therapies depending on the characteristics of the tumors. METHODS: We retrospectively analyzed intermediate- and high-risk NMIBC patients treated with PDD-TURBT alone (the PDD group) or white light TURBT with BCG therapy (the white light group) using propensity score matched analysis. RESULTS: In the propensity score matched cohort, the 1-, 2-, and 3-year recurrence-free survival rates for the PDD group were 77.6%, 64.1%, and 48.1%, respectively, compared to 84.6%, 75.1%, and 75.1% for the white light group (p = 0.44, 0.27, 0.17, respectively). The difference in recurrence rates between the two groups tended to become more pronounced over time, although there was no significant difference. In the univariate and multivariate analysis, recurrence, multiplicity, and tumor grade were the significant prognostic factors of recurrence in the PDD group (p = 0.010, 0.047, 0.048, respectively). Long-term RFS was similar in the PDD and white light groups when the population was limited to the primary and single tumors, suggesting that PDD-TURBT alone may be sufficient in this spectrum of patients. CONCLUSIONS: PDD-TURBT alone is insufficient to control the long-term recurrence of bladder cancer but can be effective in selected cases such as primary and single tumors.

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7. Peterson T, Dodson J, Sherwin R, Strale F, Jr. A Non-parametric Analysis of Gender Differences With the Impacts of Applied Behavior Analysis on Autistic Individuals. Cureus;2024 (May);16(5):e60794.

Introduction Considering the scarcity of research that directly investigates the differences between genders in their response to applied behavior analysis (ABA) therapy for individuals diagnosed with autism spectrum disorder (ASD), the objective of this study is twofold. First, it aims to reinforce the male-to-female ratio reported in existing scientific literature, thereby contributing to a broader understanding of gender distribution in ABA therapy for ASD. Second, it seeks to identify gender-based differences in aggregate target behaviors at various time intervals using three distinct datasets. The goal is to determine if gender influences the effectiveness of ABA therapy for ASD, which could inform future therapeutic strategies. Ultimately, this study strives to enhance our understanding of gender disparities in ABA therapy response among ASD individuals and hopes to improve therapeutic outcomes for all, regardless of gender. Materials and methods Three to five behavioral technicians per child collected daily general target mastery data for 263 individuals with autism. This data was gathered using a large N design through retrospective chart reviews within the « Catalyst » tracking software (DataFinch Technologies, Atlanta, USA). Three separate datasets were collected from June 7, 2023 to January 7, 2024. Behavior analysts employed a mixed model of discrete trial training, mass trials, and naturalistic environment treatment over seven months. General target mastery data was assembled for 259 children and four adults, with seven data instances missing. Descriptive statistics encompassed central tendency and dispersion measures, including the data distribution’s mean, standard deviation, median, and range. Non-parametric inferential analysis was performed with the Mann-Whitney U test. Results Mann-Whitney U computations resulted in non-significant gender differences on all gender comparisons for the three datasets covering the seven-month timeframe. Dataset #1: Time 1-(U=727.5, p=0.846, ή2=0.0002, Time 2-(U=736, p=0.910, ή2=0.00005), Time 3-(U=687.5, p=0.569, ή2=0.001) Dataset #2: Time 1-(U=781, p=0.383, ή2=0.003), Time 2-(U=819.5, p=0.585, ή2=0.001), Time 3-(U=825, p=0.618, ή2=0.001) Dataset #3: Time 1-(U=395, p=0.198, ή2=0.007), Time 2-(U=373.5, p=0.365, ή2 =0.003), Time 3-(U=363, p=0.471, ή2=0.002), Time 4-(U=366.5, p=0.436, ή2 =0.003), Time 5-(U=371, p=0.391, ή2=0.003), Time 6-(U=394, p=0.208, ή2=0.007), Time 7-(U=373, p=0.373, ή2=0.003), Time 8-(U=371.5, p=0.387, ή2=0.003), Time 9-(U=464.5, p=0.512, ή2=0.002), Time 10-(U=356.5, p=0.546, ή2=0.002), Time 11-(U=357.5, p=0.535, ή2=0.002), Time 12-(U=350.5, p=0.346, ή2=0.004) Conclusions This study suggests no significant gender differences in response to ABA therapy among individuals with autism, indicating its potential effectiveness for both genders. However, these findings should be interpreted cautiously due to statistical uncertainties reflected in the broad confidence intervals as they hint at possible substantial gender differences. Further research, including an extension study, must confirm these results and understand potential gender nuances in ABA therapy response. This could help tailor more effective, personalized therapeutic strategies for individuals with autism.

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8. Rodrigues B, Sousa V, Yrigollen CM, Tassone F, Villate O, Allen EG, Glicksman A, Tortora N, Nolin SL, Nogueira AJA, Jorge P. FMR1 allelic complexity in premutation carriers provides no evidence for a correlation with age at amenorrhea. Reprod Biol Endocrinol;2024 (Jun 21);22(1):71.

BACKGROUND: Premutations in the Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene, defined as between 55 and 200 CGGs, have been implicated in fragile X-associated primary ovarian insufficiency (FXPOI). Only 20% of female premutation carriers develop early ovulatory dysfunction, the reason for this incomplete penetrance is unknown. This study validated the mathematical model in premutation alleles, after assigning each allele a score representing allelic complexity. Subsequently, allelic scores were used to investigate the impact of allele complexity on age at amenorrhea for 58 premutation cases (116 alleles) previously published. METHODS: The allelic score was determined using a formula previously described by our group. The impact of each allelic score on age at amenorrhea was analyzed using Pearson’s test and a contour plot generated to visualize the effect. RESULTS: Correlation of allelic score revealed two distinct complexity behaviors in premutation alleles. No significant correlation was observed between the allelic score of premutation alleles and age at amenorrhea. The same lack of significant correlation was observed regarding normal-sized alleles, despite a nearly significant trend. CONCLUSIONS: Our results suggest that the use of allelic scores combination have the potential to explain female infertility, namely the development of FXPOI, or ovarian dysfunction, despite the lack of correlation with age at amenorrhea. Such a finding is of great clinical significance for early identification of females at risk of ovulatory dysfunction, enhancement of fertility preservation techniques, and increasing the probability for a successful pregnancy in females with premutations. Additional investigation is necessary to validate this hypothesis.

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9. Sharma A, Pantalone DW, Kohn B, Pereida ET, Nadwodny N, Faja S. Perceptions of Individuals with Autism Spectrum Disorder on How Health Care Providers Address Sexual Health. J Dev Behav Pediatr;2024 (Jun 21)

OBJECTIVE: Medical providers report barriers that prevent them from discussing sexual health with patients with autism spectrum disorder (ASD). No investigations have examined the perspectives of adults with ASD about their sexual health care experiences. METHODS: Twenty-five verbal young adults diagnosed with ASD and 40 young adults without ASD participated. An 8-item self-report survey assessed frequency of health care visits, age when sexual health was first discussed, and frequency/content of discussions with providers. RESULTS: The likelihood of discussing sexual health topics did not differ by group, χ2s < 3.25; ps > 0.07, except sexual victimization, which the ASD group reported having discussed less than the non-ASD group (32 vs 9%), χ2 (1, N = 57) = 4.36, p = 0.04. Groups did not differ in their reported comfort level discussing sex/sexual health, having a primary care provider, or frequency of visits. The non-ASD group was significantly more likely to have received sexual health counseling (81%) than ASD group (52%), χ2 (1, N = 58) = 5.33, p = 0.02. Participants in both groups reported having received sexual health information from similar sources except the ASD group was more likely to receive information from parents than the non-ASD group (68% vs 30%), χ2 (1, N = 65) = 8.99, p = 0.003. CONCLUSION: Participants in the ASD and non-ASD groups reported similar comfort levels with sexual health discussions and access to health providers. Yet, the ASD group received less counseling related to sexual health-particularly sexual victimization screening-suggesting that critical information may be missing. Future studies should determine how to help providers overcome barriers to providing young adults with ASD sexual health aligned with their needs.

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10. Takeda T, Osada H, Tsuji Y, Kurita H. Validation and determining an optimal cut-off score of the Infant Behavior Checklist for autism spectrum disorder. PCN Rep;2024 (Jun);3(2):e212.

AIM: Given the escalating prevalence of autism spectrum disorder (ASD), the persistent paucity of child psychiatrists in Japan, and the need to prepare for unforeseen situations, such as the COVID-19 pandemic, it is essential to establish a reliable screening tool. This study aims to validate the Infant Behavior Checklist (IBC) developed by Japanese experts and determine its appropriate cut-off score. METHODS: A total of 354 clinic-referred children, along with their caregivers, participated in this research. Clinical records, including diagnoses established through the sub-structured diagnostic interviews, and the IBC assessments, were subjected to rigorous statistical analysis. RESULTS: Among the 24 items, six failed to reach significance to differentiate ASD from non-ASD cases. The Cronbach’s alpha coefficient for the IBC was calculated at 0.77. The IBC total score for ASD cases was significantly higher than that of non-ASD cases. With the chosen cut-off score, the IBC demonstrated an area under the ROC curve of 0.803, along with sensitivity, specificity, positive predictive value, and negative predictive value of 8.03, 0.79, 0.69, 0.34, and 0.94, respectively. CONCLUSION: The IBC exhibits satisfactory internal consistency and content and discriminant validity. The high sensitivity and other associated indices for the optimal cut-off score of the IBC affirm its validity as a screening instrument for ASD. Nevertheless, further investigations are warranted to ascertain the clinical utility of the IBC.

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11. Wan L, Yang G, Yan Z. Identification of a molecular network regulated by multiple ASD high risk genes. Hum Mol Genet;2024 (Jun 21);33(13):1176-1185.

Genetic sequencing has identified high-confidence ASD risk genes with loss-of-function mutations. How the haploinsufficiency of distinct ASD risk genes causes ASD remains to be elucidated. In this study, we examined the role of four top-ranking ASD risk genes, ADNP, KDM6B, CHD2, and MED13, in gene expression regulation. ChIP-seq analysis reveals that gene targets with the binding of these ASD risk genes at promoters are enriched in RNA processing and DNA repair. Many of these targets are found in ASD gene database (SFARI), and are involved in transcription regulation and chromatin remodeling. Common gene targets of these ASD risk genes include a network of high confidence ASD genes associated with gene expression regulation, such as CTNNB1 and SMARCA4. We further directly examined the transcriptional impact of the deficiency of these ASD risk genes. Our mRNA profiling with qPCR assays in cells with the knockdown of Adnp, Kdm6b, Chd2 or Med13 has revealed an intricate pattern of their cross-regulation, as well as their influence on the expression of other ASD genes. In addition, some synaptic genes, such as Snap25 and Nrxn1, are strongly regulated by deficiency of the four ASD risk genes, which could be through the direct binding at promoters or indirectly through the targets like Ctnnb1 or Smarca4. The identification of convergent and divergent gene targets that are regulated by multiple ASD risk genes will help to understand the molecular mechanisms underlying common and unique phenotypes associated with haploinsufficiency of ASD-associated genes.

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12. Yamaguchi Y, Okamura K, Yamamuro K, Okumura K, Komori T, Toritsuka M, Takada R, Nishihata Y, Ikawa D, Yamauchi T, Makinodan M, Yoshino H, Saito Y, Matsuzaki H, Kishimoto T, Kimoto S. NARP-related alterations in the excitatory and inhibitory circuitry of socially isolated mice: developmental insights and implications for autism spectrum disorder. Front Psychiatry;2024;15:1403476.

BACKGROUND: Social isolation during critical periods of development is associated with alterations in behavior and neuronal circuitry. This study aimed to investigate the immediate and developmental effects of social isolation on firing properties, neuronal activity-regulated pentraxin (NARP) and parvalbumin (PV) expression in the prefrontal cortex (PFC), social behavior in juvenile socially isolated mice, and the biological relevance of NARP expression in autism spectrum disorder (ASD). METHODS: Mice were subjected to social isolation during postnatal days 21-35 (P21-P35) and were compared with group-housed control mice. Firing properties in the PFC pyramidal neurons were altered in P35 socially isolated mice, which might be associated with alterations in NARP and PV expression. RESULTS: In adulthood, mice that underwent juvenile social isolation exhibited difficulty distinguishing between novel and familiar mice during a social memory task, while maintaining similar levels of social interaction as the control mice. Furthermore, a marked decrease in NARP expression in lymphoblastoid cell lines derived from adolescent humans with ASD as compared to typically developing (TD) humans was found. CONCLUSION: Our study highlights the role of electrophysiological properties, as well as NARP and PV expression in the PFC in mediating the developmental consequences of social isolation on behavior.

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13. Zeng P, Zhang CZ, Fan ZX, Yang CJ, Cai WY, Huang YF, Xiang ZJ, Wu JY, Zhang J, Yang J. Effect of probiotics on children with autism spectrum disorders: a meta-analysis. Ital J Pediatr;2024 (Jun 21);50(1):120.

BACKGROUND: Researches have found that alteration of intestinal flora may be closely related to the development of autism spectrum disorder (ASD). However, whether probiotics supplementation has a protective effect on ASD remains controversial. This meta-analysis aimed to analyze the outcome of probiotics in the treatment of ASD children. METHODS: The Pubmed, Cochrane Library, Web of Science and Embase were searched until Sep 2022. Randomized controlled trials (RCTs) relevant to the probiotics and placebo treatment on ASD children were screened. Quality assessment of the included RCTs was evaluated by the Cochrane collaboration’s tool. The primary outcomes were ASD assessment scales, including ABC (aberrant behavior checklist) and CBCL (child behavior checklist) for evaluating the behavior improvement, SRS (social responsiveness scale) for social assessment, DQ (developmental quotient) for physical and mental development and CGI-I (clinical global impression improvement) for overall improvement. The secondary outcome was total 6-GSI (gastrointestinal severity index). RESULTS: In total, 6 RCTs from 6 studies with 302 children were included in the systemic review. Total 6-GSI (MD=-0.59, 95%CI [-1.02,-0.17], P < 0.05) decreased significantly after oral administration of probiotics. Whereas, there was no statistical difference in ABC, CBCL, SRS, DQ and CGI-I between probiotics and placebo groups in ASD children. CONCLUSION: Probiotics treatment could improve gastrointestinal symptoms, but there was no significant improvement in ASD.

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