1. Alghamdi M, Alhakbani N, Al-Nafjan A. Assessing the Potential of Robotics Technology for Enhancing Educational for Children with Autism Spectrum Disorder. Behav Sci (Basel);2023 (Jul 16);13(7)

Robotics technology has been increasingly used as an educational and intervention tool for children with autism spectrum disorder (ASD). However, there remain research issues and challenges that need to be addressed to fully realize the potential benefits of robot-assisted therapy. This systematic review categorizes and summarizes the literature related to robot educational/training interventions and provides a conceptual framework for collecting and classifying these articles. The challenges identified in this review are classified into four levels: robot-level, algorithm-level, experimental-research-level, and application-level challenges. The review highlights possible future research directions and offers crucial insights for researchers interested in using robots in therapy. The most relevant findings suggest that robot-assisted therapy has the potential to improve social interaction, communication, and emotional regulation skills in children with ASD. Addressing these challenges and seeking new research avenues will be critical to advancing the field of robot-assisted therapy and improving outcomes for children with ASD. This study serves as a roadmap for future research in this important area.

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2. Alshamrani AA, Alwetaid MY, Al-Hamamah MA, Attia MSM, Ahmad SF, Algonaiah MA, Nadeem A, Ansari MA, Bakheet SA, Attia SM. Aflatoxin B1 Exacerbates Genomic Instability and Apoptosis in the BTBR Autism Mouse Model via Dysregulating DNA Repair Pathway. Toxics;2023 (Jul 22);11(7)

The pathophysiology of autism is influenced by a combination of environmental and genetic factors. Furthermore, individuals with autism appear to be at a higher risk of developing cancer. However, this is not fully understood. Aflatoxin B1 (AFB1) is a potent food pollutant carcinogen. The effects of AFB1 on genomic instability in autism have not yet been investigated. Hence, we have aimed to investigate whether repeated exposure to AFB1 causes alterations in genomic stability, a hallmark of cancer and apoptosis in the BTBR autism mouse model. The data revealed increased micronuclei generation, oxidative DNA strand breaks, and apoptosis in BTBR animals exposed to AFB1 when compared to unexposed animals. Lipid peroxidation in BTBR mice increased with a reduction in glutathione following AFB1 exposure, demonstrating an exacerbated redox imbalance. Furthermore, the expressions of some of DNA damage/repair- and apoptosis-related genes were also significantly dysregulated. Increases in the redox disturbance and dysregulation in the DNA damage/repair pathway are thus important determinants of susceptibility to AFB1-exacerbated genomic instability and apoptosis in BTBR mice. This investigation shows that AFB1-related genomic instability can accelerate the risk of cancer development. Moreover, approaches that ameliorate the redox balance and DNA damage/repair dysregulation may mitigate AFB1-caused genomic instability.

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3. Byiers BJ, Merbler AM, Raiter A, Burkitt CC, Symons FJ. Caregiver Perspectives on Pain Sensitivity and Pain Experience in Rett Syndrome. Can J Pain;2023;7(1):2229400.

BACKGROUND: Although delayed or decreased responses to pain are commonly reported among caregivers of individuals with Rett syndrome (RTT), previous studies in relatively small samples have documented that caregivers are concerned about pain, particularly due to gastrointestinal and musculoskeletal conditions. AIMS: The purpose of the current study was to investigate in detail caregivers’ perceptions of pain sensitivity, as well as the types, severity, and effect of pain experienced by individuals with RTT in a larger sample than previous studies. METHODS: A total of 51 caregivers (mostly mothers) participated in the study, which involved standardized questionnaires and interviews. The individuals with RTT ranged in age from 2 to 52 years of age, and most (n = 46; 90%) met criteria for classic RTT. RESULTS: Across the sample, 84% of caregivers reported that they believed that their child was less sensitive to pain compared to her typically developing peers. Despite this perception, 63% of caregivers reported that their child had experienced at least one form of pain in the previous 7 days, and 57% reported their child experienced at least one form of chronic pain. On average, caregivers reported that their child’s pain was of moderate severity and interfered with at least one activity of daily living. CONCLUSIONS: The results suggest that pain is a substantial concern among caregivers of individuals with RTT and indicate that additional research is needed to understand the apparent paradox of frequently reported pain experiences despite widespread perceptions of decreased pain sensitivity.

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4. Cirnigliaro M, Chang TS, Arteaga SA, Pérez-Cano L, Ruzzo EK, Gordon A, Bicks LK, Jung JY, Lowe JK, Wall DP, Geschwind DH. The contributions of rare inherited and polygenic risk to ASD in multiplex families. Proc Natl Acad Sci U S A;2023 (Aug);120(31):e2215632120.

Autism spectrum disorder (ASD) has a complex genetic architecture involving contributions from both de novo and inherited variation. Few studies have been designed to address the role of rare inherited variation or its interaction with common polygenic risk in ASD. Here, we performed whole-genome sequencing of the largest cohort of multiplex families to date, consisting of 4,551 individuals in 1,004 families having two or more autistic children. Using this study design, we identify seven previously unrecognized ASD risk genes supported by a majority of rare inherited variants, finding support for a total of 74 genes in our cohort and a total of 152 genes after combined analysis with other studies. Autistic children from multiplex families demonstrate an increased burden of rare inherited protein-truncating variants in known ASD risk genes. We also find that ASD polygenic score (PGS) is overtransmitted from nonautistic parents to autistic children who also harbor rare inherited variants, consistent with combinatorial effects in the offspring, which may explain the reduced penetrance of these rare variants in parents. We also observe that in addition to social dysfunction, language delay is associated with ASD PGS overtransmission. These results are consistent with an additive complex genetic risk architecture of ASD involving rare and common variation and further suggest that language delay is a core biological feature of ASD.

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5. De Sales-Millán A, Aguirre-Garrido JF, González-Cervantes RM, Velázquez-Aragón JA. Microbiome-Gut-Mucosal-Immune-Brain Axis and Autism Spectrum Disorder (ASD): A Novel Proposal of the Role of the Gut Microbiome in ASD Aetiology. Behav Sci (Basel);2023 (Jun 30);13(7)

Autism Spectrum Disorder (ASD) is a complex neurodevelopmental disorder characterised by deficits in social interaction and communication, as well as restricted and stereotyped interests. Due of the high prevalence of gastrointestinal disorders in individuals with ASD, researchers have investigated the gut microbiota as a potential contributor to its aetiology. The relationship between the microbiome, gut, and brain (microbiome-gut-brain axis) has been acknowledged as a key factor in modulating brain function and social behaviour, but its connection to the aetiology of ASD is not well understood. Recently, there has been increasing attention on the relationship between the immune system, gastrointestinal disorders and neurological issues in ASD, particularly in relation to the loss of specific species or a decrease in microbial diversity. It focuses on how gut microbiota dysbiosis can affect gut permeability, immune function and microbiota metabolites in ASD. However, a very complete study suggests that dysbiosis is a consequence of the disease and that it has practically no effect on autistic manifestations. This is a review of the relationship between the immune system, microbial diversity and the microbiome-gut-brain axis in the development of autistic symptoms severity and a proposal of a novel role of gut microbiome in ASD, where dysbiosis is a consequence of ASD-related behaviour and where dysbiosis in turn accentuates the autistic manifestations of the patients via the microbiome-gut-brain axis in a feedback circuit.

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6. Di Luzio M, Guerrera S, Pontillo M, Lala MR, Casula L, Valeri G, Vicari S. Autism spectrum disorder, very-early onset schizophrenia, and child disintegrative disorder: the challenge of diagnosis. A case-report study. Front Psychiatry;2023;14:1212687.

BACKGROUND: Autism spectrum disorder (ASD) in the Diagnostic and Statistical Manual of Mental Disorders Fifth Edition (DSM-5) contains several disorders previously present as distinct diagnoses in the DSM Revised Fourth Edition (DSM-IV-TR). These include child disintegrative disorder (CDD). The latter presents typical features, such as a late regression of developmental acquisitions. However, it also shows symptoms similar to ASD, and psychotic symptoms, such as very-early onset schizophrenia (VEOS), are described in the literature. CASE REPORT: In this case report we deepen the case of P., a child who presents a late regression, at 7 years old, associated with psychotic symptoms in the absence of organic alterations. The child was treated with antipsychotic drug therapy and cognitive behavioral therapy. P. was diagnosed with ASD with acute and late regression associated with psychotic symptoms. During the follow-up, there was a gradual improvement in the clinical conditions. Improvements were possible due to therapeutic intervention (pharmacological and psychotherapeutic) and/or the natural course of the disorder. CONCLUSION: The diagnostic difficulty of this case reflects a clinical complexity in which it is not easy to distinguish between neurodevelopmental and psychiatric aspects. Clinical cases such as that of P. emphasize the theme of the neurodevelopment continuum model in which neurodevelopmental and psychiatric disturbances can be considered within a pattern of pathological continuity.

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7. Isakoglou C, Haak KV, Wolfers T, Floris DL, Llera A, Oldehinkel M, Forde NJ, Oakley BFM, Tillmann J, Holt RJ, Moessnang C, Loth E, Bourgeron T, Baron-Cohen S, Charman T, Banaschewski T, Murphy DGM, Buitelaar JK, Marquand AF, Beckmann CF. Fine-grained topographic organization within somatosensory cortex during resting-state and emotional face-matching task and its association with ASD traits. Transl Psychiatry;2023 (Jul 27);13(1):270.

Sensory atypicalities are particularly common in autism spectrum disorders (ASD). Nevertheless, our knowledge about the divergent functioning of the underlying somatosensory region and its association with ASD phenotype features is limited. We applied a data-driven approach to map the fine-grained variations in functional connectivity of the primary somatosensory cortex (S1) to the rest of the brain in 240 autistic and 164 neurotypical individuals from the EU-AIMS LEAP dataset, aged between 7 and 30. We estimated the S1 connection topography (‘connectopy’) at rest and during the emotional face-matching (Hariri) task, an established measure of emotion reactivity, and accessed its association with a set of clinical and behavioral variables. We first demonstrated that the S1 connectopy is organized along a dorsoventral axis, mapping onto the S1 somatotopic organization. We then found that its spatial characteristics were linked to the individuals’ adaptive functioning skills, as measured by the Vineland Adaptive Behavior Scales, across the whole sample. Higher functional differentiation characterized the S1 connectopies of individuals with higher daily life adaptive skills. Notably, we detected significant differences between rest and the Hariri task in the S1 connectopies, as well as their projection maps onto the rest of the brain suggesting a task-modulating effect on S1 due to emotion processing. All in all, variation of adaptive skills appears to be reflected in the brain’s mesoscale neural circuitry, as shown by the S1 connectivity profile, which is also differentially modulated during rest and emotional processing.

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8. Li SY, Zhao X, Cheng MY, Lu L, Guo JX, Xuan DS, Sun YB, Xing QN, Meng LS, Liao JJ, Cui SH, Zhang LJ, Feng ZQ, Zhang XA. Quantitative Relaxometry Assessment of Brain Microstructural Abnormality of Preschool Children With Autism Spectrum Disorder With Synthetic Magnetic Resonance Imaging. J Comput Assist Tomogr;2023 (Jul 28)

OBJECTIVE: This study aimed to perform an assessment of brain microstructure in children with autism aged 2 to 5 years using relaxation times acquired by synthetic magnetic resonance imaging. MATERIALS AND METHODS: Thirty-four children with autism spectrum disorder (ASD) (ASD group) and 17 children with global developmental delay (GDD) (GDD group) were enrolled, and synthetic magnetic resonance imaging was performed to obtain T1 and T2 relaxation times. The differences in brain relaxation times between the 2 groups of children were compared, and the correlation between significantly changed T1/T2 and clinical neuropsychological scores in the ASD group was analyzed. RESULTS: Compared with the GDD group, shortened T1 relaxation times in the ASD group were distributed in the genu of corpus callosum (GCC) (P = 0.003), splenium of corpus callosum (P = 0.002), and right thalamus (TH) (P = 0.014), whereas shortened T2 relaxation times in the ASD group were distributed in GCC (P = 0.011), left parietal white matter (P = 0.035), and bilateral TH (right, P = 0.014; left, P = 0.016). In the ASD group, the T2 of the left parietal white matter is positively correlated with gross motor (developmental quotient [DQ] 2) and personal-social behavior (DQ5), respectively (r = 0.377, P = 0.028; r = 0.392, P = 0.022); the T2 of the GCC was positively correlated with DQ5 (r = 0.404, P = 0.018); and the T2 of the left TH is positively correlated with DQ2 and DQ5, respectively (r = 0.433, P = 0.009; r = 0.377, P = 0.028). All significantly changed relaxation values were not significantly correlated with Childhood Autism Rating Scale scores. CONCLUSIONS: The shortened relaxometry times in the brain of children with ASD may be associated with the increased myelin content and decreased water content in the brain of children with ASD in comparison with GDD, contributing the understanding of the pathophysiology of ASD. Therefore, the T1 and T2 relaxometry may be used as promising imaging markers for ASD diagnosis.

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9. Longo F, Aryal S, Anastasiades PG, Maltese M, Baimel C, Albanese F, Tabor J, Zhu JD, Oliveira MM, Gastaldo D, Bagni C, Santini E, Tritsch NX, Carter AG, Klann E. Cell-type-specific disruption of cortico-striatal circuitry drives repetitive patterns of behavior in fragile X syndrome model mice. Cell Rep;2023 (Jul 27);42(8):112901.

Individuals with fragile X syndrome (FXS) are frequently diagnosed with autism spectrum disorder (ASD), including increased risk for restricted and repetitive behaviors (RRBs). Consistent with observations in humans, FXS model mice display distinct RRBs and hyperactivity that are consistent with dysfunctional cortico-striatal circuits, an area relatively unexplored in FXS. Using a multidisciplinary approach, we dissect the contribution of two populations of striatal medium spiny neurons (SPNs) in the expression of RRBs in FXS model mice. Here, we report that dysregulated protein synthesis at cortico-striatal synapses is a molecular culprit of the synaptic and ASD-associated motor phenotypes displayed by FXS model mice. Cell-type-specific translational profiling of the FXS mouse striatum reveals differentially translated mRNAs, providing critical information concerning potential therapeutic targets. Our findings uncover a cell-type-specific impact of the loss of fragile X messenger ribonucleoprotein (FMRP) on translation and the sequence of neuronal events in the striatum that drive RRBs in FXS.

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10. Mantas V, Kotoula V, Pehlivanidis A. Exploring randomness in autism. PeerJ;2023;11:e15751.

INTRODUCTION: The fast, intuitive and autonomous system 1 along with the slow, analytical and more logical system 2 constitute the dual system processing model of decision making. Whether acting independently or influencing each other both systems would, to an extent, rely on randomness in order to reach a decision. The role of randomness, however, would be more pronounced when arbitrary choices need to be made, typically engaging system 1. The present exploratory study aims to capture the expression of a possible innate randomness mechanism, as proposed by the authors, by trying to isolate system 1 and examine arbitrary decision making in autistic participants with high functioning Autism Spectrum Disorders (ASD). METHODS: Autistic participants withhigh functioning ASD and an age and gender matched comparison group performed the random number generation task. The task was modified to limit the contribution of working memory and allow any innate randomness mechanisms expressed through system 1, to emerge. RESULTS: Utilizing a standard analyses approach, the random number sequences produced by autistic individuals and the comparison group did not differ in their randomness characteristics. No significant differences were identified when the sequences were examined using a moving window approach. When machine learning was used, random sequences’ features could discriminate the groups with relatively high accuracy. CONCLUSIONS: Our findings indicate the possibility that individual patterns during random sequence production could be consistent enough between groups to allow for an accurate discrimination between the autistic and the comparison group. In order to draw firm conclusions around innate randomness and further validate our experiment, our findings need to be replicated in a bigger sample.

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11. Martinez JD, Wilson LG, Brancaleone WP, Peterson KG, Popke DS, Garzon VC, Perez Tremble RE, Donnelly MJ, Mendez Ortega SL, Torres D, Shaver JJ, Clawson BC, Jiang S, Yang Z, Aton SJ. Hypnotic treatment reverses NREM sleep disruption and EEG desynchronization in a mouse model of Fragile X syndrome to rescue memory consolidation deficits. bioRxiv;2023 (Jul 18)

Fragile X syndrome (FXS) is a highly-prevalent genetic cause of intellectual disability, associated with disrupted cognition and sleep abnormalities. Sleep loss itself negatively impacts cognitive function, yet the contribution of sleep loss to impaired cognition in FXS is vastly understudied. One untested possibility is that disrupted cognition in FXS is exacerbated by abnormal sleep. We hypothesized that restoration of sleep-dependent mechanisms could improve functions such as memory consolidation in FXS. We examined whether administration of ML297, a hypnotic drug acting on G-protein-activated inward-rectifying potassium channels, could restore sleep phenotypes and improve disrupted memory consolidation in Fmr1 (-/y) mice. Using 24-h polysomnographic recordings, we found that Fmr1 (-/y) mice exhibit reduced non-rapid eye movement (NREM) sleep and fragmented NREM sleep architecture, alterations in NREM EEG spectral power (including reductions in sleep spindles), and reduced EEG coherence between cortical areas. These alterations were reversed in the hours following ML297 administration. Hypnotic treatment following contextual fear or spatial learning also ameliorated disrupted memory consolidation in Fmr1 (-/y) mice. Hippocampal activation patterns during memory recall was altered in Fmr1 (-/y) mice, reflecting an altered balance of activity among principal neurons vs. parvalbumin-expressing (PV+) interneurons. This phenotype was partially reversed by post-learning ML297 administration. These studies suggest that sleep disruption could have a major impact on neurophysiological and behavioral phenotypes in FXS, and that hypnotic therapy may significantly improve disrupted cognition in this disorder.

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12. Meng C, Li T, Wang J. Temporal course of attention bias toward emotional faces in individuals with autistic traits: an eye-movement study. Front Neurosci;2023;17:1218595.

INTRODUCTION: Similar attention patterns have been found in individuals with autism spectrum disorder (ASD) and autistic traits (ATs). The Intense World Theory and previous studies suggest that individuals with ASD may demonstrate a vigilance-avoidance attention pattern toward emotional faces. However, the attention patterns in individuals with ATs remain unclear. Therefore, this study employs eye-tracking technology to examine the characteristics and temporal course of attention bias toward emotional faces in individuals with ATs. METHODS: The Autism-spectrum Quotient (AQ) was used to evaluate the level of ATs among 2,502 college students. A total of 50 participants were selected from the 2,502 college students: 25 high-AQ group participants were randomly selected from the 10% of individuals with the highest AQ scores. Similarly, 25 low-AQ group participants were randomly selected from the 10% of participants with the lowest AQ scores. All selected participants completed an eye-tracking study while performing a dot-probe task with emotional faces (positive-neutral, negative-neutral, and negative-positive). By analyzing data from different time periods, the attention bias and time course of individuals with ATs toward emotional faces were investigated. RESULTS: The results show that compared to the low-AQ group, the high-AQ group detected negative faces faster in the early stages of emotional face processing. As the presentation time of emotional faces increased (at the 2-3 s mark), the fixation scores for negative-neutral faces of the high-AQ group were less than 0.5, which was significantly lower than those of the low-AQ group. Meanwhile, the high-AQ group showed brief attentional avoidance toward positive emotion at 3-4 s in the positive-neutral trials, indicating that the high-AQ group exhibited attention avoidance to both negative and positive faces during the middle and later stages of emotional processing. CONCLUSION: This study suggests that individuals with ATs display a vigilance-avoidance pattern toward emotional faces. It contributes to a deeper understanding of the mechanisms of attention in persons with ATs and further supports the Intense World Theory.

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13. Reeve BB, Lucas N, Chen D, McFatrich M, Jones HN, Gordon KL, Leiva LZ, Lin L, Coenraads M, von Hehn J, Carpenter RL, Marsh ED, Zigler CK. Validation of the Observer-Reported Communication Ability (ORCA) measure for individuals with Rett syndrome. Eur J Paediatr Neurol;2023 (Jul 28);46:74-81.

PURPOSE: The study goal was to validate the Observer-Reported Communication Ability (ORCA) measure for use with females with Rett Syndrome (RTT). METHODS: Qualitative interviews, including concept elicitation and cognitive interviewing methods, were conducted with 19 caregivers of individuals with RTT ages 2 and older. A quantitative study was then conducted in 279 caregivers to evaluate construct validity and reliability. RESULTS: After minor modifications were made, the modified ORCA measure was well understood and captured key communication concepts. Quantitative data showed evidence for reliable scores (α = 0.90, test-retest intraclass correlation = 0.88), minimal floor and no ceiling effects, and strong correlation with the Communication and Symbolic Behaviors Scale (r = 0.73). CONCLUSIONS: This study provided initial support that the modified ORCA measure is an acceptable caregiver-reported measure of communication ability for females with RTT. Future work should include evaluation of longitudinal validity of the measure and its associations with clinician- and performance-based measures in diverse samples.

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14. Saleh Hodin NA, Chong SG, Bakar NA, Fahmi M, Ramlan NF, Hamid N, Fadzar M, Zulkifli AR, Norazhar AI, Mastuki SN, Faudzi SMM, Ibrahim WNW, Azmai MNA. Toxicity and teratogenicity effects of valproic acid on zebrafish (Danio rerio) embryos in relation to autism spectrum disorder. Birth Defects Res;2023 (Jul 28)

Valproic acid (VPA) is a widely prescribed antiepileptic drug with various medicinal efficacies. Accumulated evidence implied that prenatal exposure to VPA is highly associated with autism spectrum disorder (ASD). In this study, the zebrafish were exposed to a set of VPA concentrations (0, 5, 10, 20, 40, 80, 160, 320, 640, 1280, and 2560 μM) at 5 h post fertilization (hpf) to 120 hpf. The adverse effects of VPA were extensively studied through the evaluations on the mortality, heartbeats, spontaneous tail coiling, and hatching rate. Morphological observations were conducted at 120 hpf, following the exposure termination. Basic locomotor responses and anxiety-like behavioral alterations evaluated for behavioral impairments are the hallmark feature of ASD. The exposure to VPA at teratogenic concentrations reduced the aforementioned parameters in a dose-dependent manner (p ≤ .05). At the selected non-teratogenic concentrations of VPA, the treated larvae demonstrated profound alterations of basic locomotor responses. No significant changes of anxiety and thigmotactic behaviors were observed on the VPA-treated fish compared to the control (p ≥ .005). This study depicted that embryonic zebrafish exposure to VPA produced significant toxicity and teratogenicity effects as well as the alterations of basic behavioral responses. Overall, this study provides a fundamental insight of the toxicity effects at morphological and behavioral levels to facilitate the understanding of ASD mechanisms at different molecular levels.

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15. Salem S, Mosaad R, Lotfy R, Ashaat E, Ismail S. In Autism Etiology: Sequence Variations, Protein Concentration, and Promoter Methylation. Arch Med Res;2023 (Jul 25);54(6):102860.

BACKGROUND: Besides its main role in the control of blood cholesterol, PCSK9 has a role in the regulation of neuronal development and apoptosis. We suggest, for the first time, the possible involvement of PCSK9 in autism. METHOD: In this case-control study, Sanger sequencing was used to analyze sequence variations in the PCSK9 gene exons and their flanking intronic sequences. ELISA assay was used to determine the plasma concentration of PCSK9. The methylation percentage of the PCSK9 gene promoter was assessed by methylation-specific PCR (MSP). RESULTS: Forty-three variants were found; out of them, seven showed differential frequency between patients and controls. rs.45448095, rs.45613943, rs.630431, rs.529500286, and rs.45439391 are risk factors for autism, while rs.11800231 and rs.483462 are protective variants. The concentration of plasma PCSK9 protein was significantly elevated and the methylation percentage of PCSK9 gene promoter was significantly lower in cases than in controls (P < 0.001 and = 0.002, respectively). ROC curve analysis identified an area under the curve (AUC) of 0.915 for plasma protein concentration and 0.693 for percent gene promoter methylation. In addition, two new variants were identified (g.23809C>T in intron 11 and g.24071T>G in 3′ UTR). CONCLUSION: This is the first study to investigate the correlation between PCSK9 protein and autism and suggests the potential involvement of PCSK9 as one of the susceptibility genes for autism. Further studies with a larger number of subjects are recommended.

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16. Samuel D, O’Malley F, Brink FW, Crichton KG, Duffy B, Letson MM, Michaels NL. Characterizing child maltreatment fatalities among child victims with disabilities in the United States, 2010-2019. Child Abuse Negl;2023 (Oct);144:106354.

BACKGROUND: There has been little research on child maltreatment-related fatalities among children with disabilities. Despite being a minority of children in the United States, children with disabilities experience higher rates of victimization. OBJECTIVE: To characterize fatalities due to child maltreatment among children with disabilities in the United States. METHODS: Data from the National Violent Death Reporting System from 2010 to 2019 were analyzed to describe child maltreatment-related deaths among children with disabilities aged birth to 17 years. RESULTS: There were 106 fatalities meeting the study criteria. The average age of the victims was 5.9 years old and 74.6 % were male. The most frequent suspected perpetrators of maltreatment-related fatalities were biological mothers (35.2 %), and most perpetrators were White (55.7 %). Analyses showed a statistically significant relationship between fatalities caused by neglect and diagnoses of attention deficit hyperactivity disorder, autism spectrum disorder, cerebral palsy, and/or traumatic brain injury. Overall, physical abuse and/or neglect resulting in a fatality among children with disabilities were significantly correlated with the relationship of the perpetrator to the victim. CONCLUSIONS: Children with disabilities who died as a result of abuse were more likely to have autism spectrum disorder, a developmental disability, or other physical impairment, with physical abuse being the most prevalent type of abuse that resulted in death. To decrease the likelihood of abuse of disabled children, healthcare practitioners and caseworkers should work together to create strategies to help caregivers cope with the financial, mental, and physical stress that comes with raising children with disabilities.

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17. Shariatpanahi M, Sojoudi Z, Khodagholi F, Rahmati H, Jameie SB, Eftekharzadeh M, Karizmeh MS, Shabani M, Zamani E. Effect of sex differences and time of oxytocin administration on treatment of rat model of autism spectrum disorder: Focused on necroptosis markers. Int J Dev Neurosci;2023 (Jul 28)

Autism is a neurodevelopmental disorder. A variety of molecular and cellular abnormalities leads to behavioral deficits in autism. Nevertheless, its etiology and treatment strategy are not completely understood. Oxytocin has recently shown improvements in social functioning. This study aimed to evaluate the necroptosis pathway for the neuroprotective effects of oxytocin in the valproic acid-induced autism spectrum disorder model. The autism spectrum disorder was induced by valproic acid on gestational day 12.5 (600 mg/kg, intraperitoneally). Offspring received intranasal oxytocin (1 μg/μL) on the 21st and 40th days after birth. The offspring behaviors were scrutinized by self-grooming, marble-burying, three-chamber, and Morris water maze tests. Western blot was performed on the hippocampus and amygdala tissues to investigate the expression of RIP3 and MLKL markers. The valproic acid group demonstrated more anxiety, repetitive behaviors, and expression of RIP3 and MLKL markers, and less social interaction and spatial memory compared with the control group. Oxytocin considerably improved social interactions, preference for social novelty, and memory. The elevated expression of RIP3 and MLKL markers in valproic acid-induced autistic rats were alleviated after treatment with oxytocin. We also highlighted the importance of age and gender in autism spectrum disorder interventions. Our findings suggested that oxytocin administration was as an effective treatment in two areas of repetitive/stereotyped behaviors, social interactions/cognitive function. Notably, early administration of oxytocin resulted in better therapeutic responses in autism-like behaviors. The molecular tests introduce oxytocin as a potential candidate for reducing the expression of necroptosis mediators in the brain. This reinforced our hypothesis that the necroptosis pathway takes part in autism spectrum disorder.

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18. Vicente-Samper JM, Tamantini C, Ávila-Navarro E, De La Casa-Lillo M, Zollo L, Sabater-Navarro JM, Cordella F. An ML-Based Approach to Reconstruct Heart Rate from PPG in Presence of Motion Artifacts. Biosensors (Basel);2023 (Jul 7);13(7)

The heart rate (HR) is a widely used clinical variable that provides important information on a physical user’s state. One of the most commonly used methods for ambulatory HR monitoring is photoplethysmography (PPG). The PPG signal retrieved from wearable devices positioned on the user’s wrist can be corrupted when the user is performing tasks involving the motion of the arms, wrist, and fingers. In these cases, the obtained HR is altered as well. This problem increases when trying to monitor people with autism spectrum disorder (ASD), who are very reluctant to use foreign bodies, notably hindering the adequate attachment of the device to the user. This work presents a machine learning approach to reconstruct the user’s HR signal using an own monitoring wristband especially developed for people with ASD. An experiment is carried out, with users performing different daily life activities in order to build a dataset with the measured signals from the monitoring wristband. From these data, an algorithm is applied to obtain a reliable HR value when these people are performing skill improvement activities where intensive wrist movement may corrupt the PPG.

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19. Xie Y, Sun J, Man W, Zhang Z, Zhang N. Personalized estimates of brain cortical structural variability in individuals with Autism spectrum disorder: the predictor of brain age and neurobiology relevance. Mol Autism;2023 (Jul 28);14(1):27.

BACKGROUND: Autism spectrum disorder (ASD) is a heritable condition related to brain development that affects a person’s perception and socialization with others. Here, we examined variability in the brain morphology in ASD children and adolescent individuals at the level of brain cortical structural profiles and the level of each brain regional measure. METHODS: We selected brain structural MRI data in 600 ASDs and 729 normal controls (NCs) from Autism Brain Imaging Data Exchange (ABIDE). The personalized estimate of similarity between gray matter volume (GMV) profiles of an individual to that of others in the same group was assessed by using the person-based similarity index (PBSI). Regional contributions to PBSI score were utilized for brain age gap estimation (BrainAGE) prediction model establishment, including support vector regression (SVR), relevance vector regression (RVR), and Gaussian process regression (GPR). The association between BrainAGE prediction in ASD and clinical performance was investigated. We further explored the related inter-regional profiles of gene expression from the Allen Human Brain Atlas with variability differences in the brain morphology between groups. RESULTS: The PBSI score of GMV was negatively related to age regardless of the sample group, and the PBSI score was significantly lower in ASDs than in NCs. The regional contributions to the PBSI score of 126 brain regions in ASDs showed significant differences compared to NCs. RVR model achieved the best performance for predicting brain age. Higher inter-individual brain morphology variability was related to increased brain age, specific to communication symptoms. A total of 430 genes belonging to various pathways were identified as associated with brain cortical morphometric variation. The pathways, including short-term memory, regulation of system process, and regulation of nervous system process, were dominated mainly by gene sets for manno midbrain neurotypes. LIMITATIONS: There is a sample mismatch between the gene expression data and brain imaging data from ABIDE. A larger sample size can contribute to the model training of BrainAGE and the validation of the results. CONCLUSIONS: ASD has personalized heterogeneity brain morphology. The brain age gap estimation and transcription-neuroimaging associations derived from this trait are replenished in an additional direction to boost the understanding of the ASD brain.

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