1. Aditama MHR. The integrated role of CBT and sensory regulation in suicide ideation prevention interventions for adolescents with autism spectrum disorder. Asian J Psychiatr. 2024; 103: 104328.

Autism Spectrum Disorder (ASD) increases the risk of suicidal ideation in adolescents due to social, emotional, and sensory challenges. Cognitive Behavioral Therapy (CBT) and sensory regulation interventions offer comprehensive solutions by addressing cognitive, emotional, and sensory issues. Integrating CBT and sensory regulation reduces suicidal risk and improves mental well-being in ASD adolescents.

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2. Alencar Quirino AH, Cavalcante JLR, Nogueira GN, Andrade AGM, Souza F, Bisol LW. Challenges in assessing the impact of maternal fish consumption and ω-3 supplement use on autism-related outcomes in children. Am J Clin Nutr. 2024; 120(6): 1457-8.

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3. Benli ET, Babur E, Dursun N, Saray H, Barutçu Ö, Süer C. Genetic machinery which accompanies metaplasticity operates differentially in experimental model of autism. Int J Dev Neurosci. 2024.

The present study investigated metaplasticity-related mRNA expressions in valproic acid (VPA)-rats, focusing on the PI3K/AKT pathway. Wistar dams were treated with a single intraperitoneal injection of 600 mg/kg VPA or saline on embryonic day E12.5 or an equal volume of saline solution. Three behavioral tests were conducted on these males’ offspring: grid-walking test, negative geotaxis test, and three-chamber social interaction test. Metaplasticity was induced in 60-day-old male progeny by giving high-frequency stimulation for 5 minutes following low-frequency stimulation to the perforant pathway. For the baseline stimulation protocol (n = 6), stimulation was delivered to the dentate gyrus at the previously determined stimulation intensity (0.33 Hz 0.175 msec 30 s) for 75 min. The percent change of slope of field excitatory postsynaptic potential (fEPSP) and amplitude of population spike were calculated 55-60 min after induction protocol. The mRNA levels of PI3K, PTEN, AKT, GSK-3β, and MAPT were measured in the hippocampus by using quantitative rt-PCR. We found that offspring of VPA-treated rats showed significantly impaired sensorimotor coordination, decreased sociability, impaired preference for social novelty, and reduced input-output curve of fEPSP slope, compared to control animals. Despite a similar metaplastic response, mRNA levels of genes of interest were similar but considerably down-regulated after induction in offspring of VPA-treated dams. Our study provides evidence that the induced expression of autism-related genes has evolved to enable an adaptation mechanism during metaplastic control of long-term potentiation.

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4. Garg S, Chauhan A. Insights into the potential benefits and challenges of AI-driven large language models/ChatGPT-4 for predicting Autism Spectrum Disorder. Arch Psychiatr Nurs. 2024; 53: 85-7.

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5. Kalin NH. Homelessness, Discrimination, PTSD, Autism, and the Amygdala. Am J Psychiatry. 2024; 181(12): 1029-32.

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6. Kılıçaslan F, Öz Ö, Mutlu MB. Investigation of chromosomal anomalies and copy number variations in children diagnosed with autism spectrum disorder by array CGH method. Int J Dev Neurosci. 2024.

This study aimed to identify the chromosomal anomalies and copy number variations (CNVs) in autism spectrum disorder (ASD) and to provide genotype/phenotype correlations. Fifty-four patients diagnosed with ASD between March 2021 and June 2022 were included in the study. Patients were evaluated by cytogenetic analysis and array comparative genomic hybridisation analysis (aCGH). The structural and numerical chromosomal anomaly was detected in 3.7%, and the CNVs were identified in 18.52% of patients. Of the CNVs detected, 27.3% were identified as pathogenic, 18.2% as likely pathogenic and 54.5% as VUS. The copy number gain rate of the detected CNVs was higher than the copy number losses rate, 70% and 30% respectively. As an important finding in the study, a new pathogenic CNV with a 6.3-mb copy number gain in the 3p22.3p22.2 region, whose gene region had not been previously defined in OMIM, was detected. Identifying a genetic aetiology may provide clinicians with more information about disease prognosis and risk of recurrence.

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7. Marcella B, Riccardo A, Franca C, Antea D, Mauro P, Giovanni M, Rosalia DM. Joint attention effect on irrelevant stimuli resistance in high functional autism and neurotypical adults. J Behav Ther Exp Psychiatry. 2025; 86: 102005.

BACKGROUND AND OBJECTIVES: Clinical practice reveals that individuals with autism characterized by the absence of cognitive impairment (High Functioning Autism-HFA) show difficulty in sharing attention with unfamiliar people. We hypothesized that this difficulty could affect cognitive control by selectively impairing stimulus-encoding or response-selection. METHODS: Twenty-one HFA and 23 neurotypical adults were involved in a two-phase study. The first phase was performed at home, through an online link; the second one was held four months later in our laboratory in the presence of two experimenters. A letter-flanker task was administered in both phases. In the Stimulus-Response (SR) conflict condition, the target and flankers were assigned to the same/different response keys. In the Stimulus-Stimulus (SS) conflict condition, the target and flankers were perceptually similar/dissimilar. Two mixed-ANOVAs were conducted on response times and accuracy with Phases (Home vs Lab), Groups (HFA, Neurotypical), SR conditions (congruent, incongruent, neutral) and SS conditions (congruent, incongruent) as factors. RESULTS: Results show that only HFAs’ inhibition ability was negatively affected by the experimenters’ presence compared to when they were alone, by reducing accuracy when dealing with an SS conflict. LIMITATIONS: The differences between the home-phase and lab-phase sessions require further elaboration to understanding the nature of social interaction during the lab session. CONCLUSIONS: These results suggest that, for HFA, the « at home » context, free from social and emotional pressure, allowed them to emphasize their detail-focused cognitive style.

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8. Nolan MB, Asche SE, Barton K, Benziger CP, Ekstrom HL, Essien I, O’Connor PJ, Allen CI, Freitag LA, Kharbanda EO. Cardiometabolic Risk in Pediatric Patients with Intellectual and Developmental Disabilities. Am J Prev Med. 2024.

INTRODUCTION: Intellectual and Developmental Disabilities (IDD) have been associated with high cardiometabolic risk in adults, but there is little data on youth. This study describes the prevalence of cardiometabolic risk factors among pediatric patients with and without IDD receiving care in a large, primarily rural health system. METHODS: This was a retrospective cohort study of patients aged 6-17 years with an index visit from August 1, 2022, to July 31, 2023, at one of 44 primary care clinics in a Midwestern health system. IDD status was defined by ICD-10 diagnostic codes. Demographic and clinical characteristics were gathered from the electronic health record (EHR). The odds of having each cardiometabolic risk factor measured, and the odds of having screened positive for each risk factor, were compared in 2024 using unadjusted odds ratios (OR) and confidence intervals. RESULTS: The prevalence of any IDD diagnosis among 33,192 eligible patients (mean age 11.6 years, 50% male) was (1,206/33,192) 3.6%, with autism being the most common (749/1,206, 62%). Though the likelihood of cardiometabolic risk factor measurement was similar, the prevalence of positive risk factors was higher in those with IDD. The odds of having obesity (OR 3.8 [3.1-4.8]), current smoking or passive smoke exposure (OR 1.4 [1.2-1.6]), a hypertension diagnosis (OR 6.4 [3.8 -10.7]), diabetes diagnosis (OR 2.67 [1.2 – 5.3]), pre-diabetes diagnosis (6.8 [3.6 – 12.9]) or dyslipidemia (OR 3.5 [2.9-4.2]), were all greater in patients with IDD than without IDD. CONCLUSIONS: This study reports disparities in risk between pediatric patients with and without IDD. Future research and intervention programs should focus on young people with IDD to prevent adverse cardiometabolic outcomes later in life.

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9. Simamora M, Zizlavsky S, Harjoprawito TJA, Wiguna T, Medise BE, Wibawanti R. Correlation between auditory brainstem responses, hyperacusis, and severity of autism spectrum disorder in young children with normal hearing at a tertiary referral center in Indonesia. Med J Malaysia. 2024; 79(6): 677-82.

INTRODUCTION: Autism spectrum disorder (ASD) is a complex condition impacting social communication, behavior, and interests. ASD affects 1 in 100 children globally, with a higher prevalence in boys. Auditory disorders, including hyperacusis, are common in ASD, yet the correlation between Auditory Brainstem Response (ABR) wave latencies and ASD severity, especially with hyperacusis, is under-researched. This study investigates ABR wave latencies in ASD children, exploring their relationship with ASD severity and h as a potential screening tool for ASD. Early diagnose and therapy could enhance the quality of life in ASD patients. MATERIALS AND METHODS: A cross-sectional study was conducted by recruiting normal-hearing children aged 3-8 years old with ASD presenting to a national referral ENT clinic between October and December 2023. The severity of ASD was assessed using the Childhood Autism Rating Scale (CARS), while hyperacusis was diagnosed using Modified Check List for Autism in Toddlers, Revised (M-CHAT-R). RESULTS: A total of 26 children with ASD, 23 of whom were male (88%), aged 3-8 years, were included in the analyses. Among these children, 18 (69.2%) had hyperacusis. Analysis of ABR click revealed a prolonged interpeak latency wave I and III (88.5%), followed by a prolonged latency in wave III (42.3%) and V (21.2%). Neither ABR wave latencies nor hyperacusis were correlated with the severity of ASD, although there was a marginally significant association between wave III latency and CARS score in the left ear (r=0.359, p=0.072). However, wave V latency and interpeak wave I-V latency were significantly longer in children without hyperacusis (right ear: p=0.042 and p=0.050; left ear: p=0.005 and p=0.004), while interpeak wave III-V only in the left ear (p=0.006) and wave III only in the right ear (p=0.029). CONCLUSION: There was no significant correlation between ABR wave latencies or hyperacusis and the severity of ASD, while ABR wave latencies were generally longer in children without hyperacusis. Further large studies involving a broader spectrum of children with ASD are warranted to confirm our findings.

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10. Srividhya D, Parambath SV, Sathyanarayanan R, Huligerepura Sosalegowda A, Korlimarla A, Niranjana Murthy AS, Prabhakaran N, Vijayanand M, Gowda NKC. Whole Exome Sequencing of a Multiplex Family of Indian Origin Identifies Variants in the RAI1 and FLII Genes within the 17p11.2 Region in Siblings with Autism and Smith Magenis Syndrome. Mol Syndromol. 2024; 15(6): 537-44.

INTRODUCTION: Autism spectrum disorders (ASDs) are complex neurodevelopmental disorders characterized by restrictive repetitive behavior and impairment in social and communication skills. They are extremely heterogeneous with a strong genetic preponderance. They are clinically highly convoluted, presenting with multiple comorbid conditions and syndromic features. More than 100 genes have been identified to date. METHOD: Whole exome sequencing (WES) has emerged as a valuable tool in evaluating the genetic underpinnings of ASDs, be it the syndromic or the idiopathic variants. In the current study, we performed WES on a multiplex family of Indian origin to investigate the disease etiology in the siblings (S1 [Female] and S2 [Male]) exhibiting ASD syndromic features, at both clinical and genetic aspects. RESULTS: Exome sequencing identified a missense variant (NM_030665.4:c.5320C>T; p.Arg1774Trp) in S1 resulting in RAI1 haploinsufficiency. Validation by Sanger sequencing confirmed that the variant was true positive and maternally transmitted in the subject. Likewise, we report an inherited missense variant at the same locus (17p11.2) corresponding to the FLII gene (NM_002018.4:c.2030A>C; p.Glu677Ala) in the other sibling, S2. Both the variants were reported in the Smith Magenis syndrome (SMS) critical region justifying their contribution to the presentation of the syndromic SMS features. These WES findings were consistent with the clinical findings that imply SMS features in both siblings. CONCLUSION: The current study employed WES to provide insights into the genetic complexity associated with syndromic ASD and how that contributes to the disease heterogeneity. Moving forward, combinatorial approaches and findings from syndromic ASDs can potentially act as indicators to understand the genetic and phenotypic variations seen in idiopathic ASD.

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11. Trancuccio A, Tarifa C, Bongianino R, Priori SG, Santiago DJ. A novel computational model of swine ventricular myocyte reveals new insights into disease mechanisms and therapeutic approaches in Timothy Syndrome. Sci Rep. 2024; 14(1): 29792.

Timothy syndrome type 1 (TS1), a malignant variant of Long QT Syndrome, is caused by L-type Ca2+ Channel (LTCC) inactivation defects secondary to the p.Gly406Arg mutation in the CACNA1C gene. Leveraging on the experimental in vitro data from our TS1 knock-in swine model and their wild-type (WT) littermates, we first developed a mathematical model of WT large white swine ventricular cardiomyocyte electrophysiology that reproduces a wide range of experimental data, including ionic current properties, action potential (AP) dynamics, and Ca2+ handling. A sensitivity analysis tested robustness and facilitated comparison with the parent ORd human model. Introducing 22% of TS1-mutated LTCCs, the model faithfully reproduced key disease features, including marked AP prolongation, steeper rate-dependent adaptation of AP duration, Ca2+ overload, and CaMKII-mediated decreased upstroke velocity. Translational relevance of the TS1 model was investigated by: dissecting the roles of primary and secondary contributors to TS1 phenotype; demonstrating the arrhythmogenic potential of TS1 vs. WT cells; and evaluating the model’s capability to identify novel pharmacological targets which could modulate the cellular phenotype. In conclusion, we developed a mathematical large white swine ventricular myocyte model, demonstrating its utility in exploring arrhythmogenic mechanisms and therapeutic interventions in cardiac diseases, such as TS1.

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12. Xia Y, Hu L, Ren K, Han X, Sun Y, Li D. Embryonic exposure to 6:2 fluorotelomer alcohol mediates autism spectrum disorder-like behavior by dysfunctional microbe-gut-brain axis in mice. J Hazard Mater. 2024; 484: 136739.

6:2 fluorotelomer alcohol (6:2 FTOH) is considered an emerging contaminant as a substitute for perfluoroalkyl and polyfluoroalkyl substances. Autism spectrum disorder (ASD) is a highly heterogeneous childhood neurodevelopmental disorder, the prevalence of which has been significantly increasing globally, possibly due to rising exposure to environmental pollutants. Additionally, the microbe-gut-brain axis plays a crucial role in the development of ASD. The purpose of study was to investigate the impact of embryonic 6:2 FTOH exposure on neurological development in mice and explore the potential involvement of the microbe-gut-brain. Pregnant mice were orally administered 6:2 FTOH from gestation day 8.5 until delivery, and follow-up testing was performed on day 22 post-delivery. The findings revealed that embryonic exposure to 6:2 FTOH led to ASD-like symptoms, cortical neuron apoptosis, glial cell activation, and abnormal synapse formation in mice. Furthermore, impairment of colonic barrier function, inflammatory response, and dysbiosis in gut microbiota were observed. Interestingly, supplementation with Lactobacillus rhamnosus GG during embryonic development mitigated these adverse outcomes. This study enhances our understanding of how environmental pollutants can impact neurological development in children and provides valuable insights for clinical prevention, diagnosis, and treatment strategies for non-genetic ASD.

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