1. Burrell A. Yonder: Repeat antibiotics, co-located drug services, autism diagnosis, and medical student lockdown motivation. Br J Gen Pract. 2024; 74(743): 273.

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2. Deveci MF, Güven Baysal Ş, Alagöz M, Gökçe İ K, Gümüş Doğan D, Özdemir R. Neurodevelopmental evaluation of newborns who underwent hypothermia with a diagnosis of hypoxic ischemic encephalopathy based on the Bayley-III scale. Turk J Med Sci. 2023; 53(6): 1786-93.

BACKGROUND/AIM: Hypoxic ischemic encephalopathy (HIE) is one of the common causes of mortality and morbidity in newborns. Despite therapeutic hypothermia, an important treatment with proven efficacy, the morbidity and mortality rates remain high. The aim of this study was to neurodevelopmentally evaluate patients who underwent therapeutic hypothermia. MATERIAL AND METHOD: Included herein were patients who underwent hypothermia between 2018 and 2020. Their medical files were reviewed retrospectively, and their demographic and clinical information was recorded. Patients whose contact information was available were called to the developmental pediatrics outpatient clinic for a neurodevelopmental evaluation. The Bayley Scales of Infant and Toddler Development 3rd Edition (Bayley-III) was used as the evaluation tool. Laboratory values and clinical parameters of the patients were further analyzed. RESULTS: It was found that 42 patients underwent hypothermia in 3 years, of whom 14 (33.3%) had died. Of the 28 patients who were discharged, 20 children could be reached, and a neurodevelopmental evaluation was performed. Developmental delay in the cognitive area was detected in 11 (55%) patients, delay in the language area was found in 9 (45%) patients, and delay in the motor area was found in 11 (55%) patients. The correlation and regression analysis results determined that the time to start cooling was the most effective common factor in all 3 fields of scoring. CONCLUSION: The time to start cooling is related to the neurodevelopmental outcomes of patients with HIE. The earlier cooling is started, the better the neurodevelopmental results. Despite therapeutic hypothermia, the neurodevelopmental development of infants may be adversely affected. These patients should be followed-up neurodevelopmentally for a long time.

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3. Horata E, Ay H, Aslan D. Autistic-like behaviour and changes in thalamic cell numbers a rat model of valproic acid-induced autism; A behavioural and stereological study. Brain Res. 2024: 149047.

The contribution of the thalamus to the development and behavioural changes in autism spectrum disorders (ASD), a neurodevelopmental syndrome, remains unclear. The aim of this study was to determine the changes in thalamic volume and cell number in the valproic acid (VPA)-induced ASD model using stereological methods and to clarify the relationship between thalamus and ASD-like behaviour. Ten pregnant rats were administered a single dose (600 mg/kg) of VPA intraperitoneally on G12.5 (VPA group), while five pregnant rats were injected with 5 ml saline (control group). Behavioural tests were performed to determine appropriate subjects and ASD-like behaviours. At P55, the brains of the subjects were removed. The sagittal sections were stained with cresyl violet and toluidine blue. The thalamic and hemispheric volumes with their ratios, the total number of thalamic cells, neurons and non-neuronal cells were calculated using stereological methods. Data were compared using a t-test and a Pearson correlation analysis was performed to examine the relationship between behaviour and stereological outcomes. VPA-treated rats had lower sociability and sociability indexes. There was no difference in social novelty preference and anxiety. The VPA group had larger hemispheric volume, lower thalamic volume, and fewer neurons. The highest percentage decrease was in non-neuronal cells. There was a moderate positive correlation between the number of non-neuronal cells and sociability, thalamic volume and the number of neurons as well as the time spent in the light box. The correlation between behaviour and stereological data suggests that the thalamus is associated with ASD-like behaviour.

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4. Hou Y, Li Y, Yang D, Zhao Y, Feng T, Zheng W, Xian P, Liu X, Wu S, Wang Y. Involvement and regulation of the left anterior cingulate cortex in the ultrasonic communication deficits of autistic mice. Front Behav Neurosci. 2024; 18: 1387447.

INTRODUCTION: Autism spectrum disorder (ASD) is a group of diseases often characterized by poor sociability and challenges in social communication. The anterior cingulate cortex (ACC) is a core brain region for social function. Whether it contributes to the defects of social communication in ASD and whether it could be physiologically modulated to improve social communication have been poorly investigated. This study is aimed at addressing these questions. METHODS: Fragile X mental retardation 1 (FMR1) mutant and valproic acid (VPA)-induced ASD mice were used. Male-female social interaction was adopted to elicit ultrasonic vocalization (USV). Immunohistochemistry was used to evaluate USV-activated neurons. Optogenetic and precise target transcranial magnetic stimulation (TMS) were utilized to modulate anterior cingulate cortex (ACC) neuronal activity. RESULTS: In wild-type (WT) mice, USV elicited rapid expression of c-Fos in the excitatory neurons of the left but not the right ACC. Optogenetic inhibition of the left ACC neurons in WT mice effectively suppressed social-induced USV. In FMR1(-/-)- and VPA-induced ASD mice, significantly fewer c-Fos/CaMKII-positive neurons were observed in the left ACC following USV compared to the control. Optogenetic activation of the left ACC neurons in FMR1(-/-) or VPA-pretreated mice significantly increased social activity elicited by USV. Furthermore, precisely stimulating neuronal activity in the left ACC, but not the right ACC, by repeated TMS effectively rescued the USV emission in these ASD mice. DISCUSSION: The excitatory neurons in the left ACC are responsive to socially elicited USV. Their silence mediates the deficiency of social communication in FMR1(-/-) and VPA-induced ASD mice. Precisely modulating the left ACC neuronal activity by repeated TMS can promote the social communication in FMR1(-/-) and VPA-pretreated mice.

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5. Hwang SH, Yu Y, Kim J, Lee T, Park YR, Kim HW. A Study on the Screening of Children at Risk for Developmental Disabilities Using Facial Landmarks Derived From a Mobile-Based Application. Psychiatry Investig. 2024; 21(5): 496-505.

OBJECTIVE: Early detection and intervention of developmental disabilities (DDs) are critical to improving the long-term outcomes of afflicted children. In this study, our objective was to utilize facial landmark features from mobile application to distinguish between children with DDs and typically developing (TD) children. METHODS: The present study recruited 89 children, including 33 diagnosed with DD, and 56 TD children. The aim was to examine the effectiveness of a deep learning classification model using facial video collected from children through mobile-based application. The study participants underwent comprehensive developmental assessments, which included the child completion of the Korean Psychoeducational Profile-Revised and caregiver completing the Korean versions of Vineland Adaptive Behavior Scale, Korean version of the Childhood Autism Rating Scale, Social Responsiveness Scale, and Child Behavior Checklist. We extracted facial landmarks from recorded videos using mobile application and performed DDs classification using long short-term memory with stratified 5-fold cross-validation. RESULTS: The classification model shows an average accuracy of 0.88 (range: 0.78-1.00), an average precision of 0.91 (range: 0.75-1.00), and an average F1-score of 0.80 (range: 0.60-1.00). Upon interpreting prediction results using SHapley Additive exPlanations (SHAP), we verified that the most crucial variable was the nodding head angle variable, with a median SHAP score of 2.6. All the top 10 contributing variables exhibited significant differences in distribution between children with DD and TD (p<0.05). CONCLUSION: The results of this study provide evidence that facial landmarks, utilizing readily available mobile-based video data, can be used to detect DD at an early stage.

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6. Jiang X, Chen X, Su J, Liu N. Prevalence of autism spectrum disorder in mainland china over the past 6 years: a systematic review and meta-analysis. BMC Psychiatry. 2024; 24(1): 404.

BACKGROUND: Coupled with its rising prevalence, Autism spectrum disorder (ASD) has become a globally recognized public health concern. Nevertheless, large-scale, multicenter studies that analyze the epidemiology of ASD in China are relatively scarce. METHODS: Literature searches were conducted in PubMed/Medline, Embase, the Cochrane Library, Wanfang Data Knowledge Service Platform, China Biology Medicine database (CBM), China Science and Technology Journal Database (CSTJ), and China National Knowledge Infrastructure (CNKI) to retrieve studies published before April 8, 2023, related to ASD prevalence among children aged 0 to 14 years in mainland China. Meta-analysis was conducted using RevMan 5.2 and Stata 14.0. RESULTS: Twenty-one articles were included. The ASD prevalence among children in mainland China has been 0.7% (95% confidence interval(CI): 0.006-0.008) since 2017. The prevalence of ASD among boys was 1.0% (95% CI: 0.008-0.011), which was significantly higher than that among girls at 0.2% (95% CI: 0.002-0.003), with a statistically significant difference (OR = 3.198, 95% CI: 2.489-4.109, P = 0.000). Among the included studies, 18 reported an ASD prevalence of 0.8% (95% CI: 0.007-0.010), while 3 studies reported an autistic disorder (AD) prevalence of 0.7% (95% CI: 0.006-0.008). The prevalence of autism among urban children was 23.9% (95% CI: 0.149-0.328), and in rural areas, it was 0.7% (95% CI: 0.002-0.013), with no statistically significant difference (OR = 1.342, 95% CI: 0.258-6.975, P = 0.727). Regression analysis showed that factors such as region (P = 0.000), age (P = 0.000), study period (P = 0.000), sample size (P = 0.000), sampling method (P = 0.002), population source (P = 0.000), disease type (P = 0.000), quality score of the study (P = 0.000), and diagnostic criteria (P = 0.000) might have contributed to the heterogeneity in ASD prevalence. CONCLUSION: The prevalence of ASD in China from 2017 to 2023 was 7/1000, showing an upward trend compared to that before 2017 (26.50/10,000). The male-to-female prevalence ratio was 5:1.The overall prevalence remained significantly lower than that reported in foreign countries.

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7. Jones D, Taylor HL. State-level variation in Medicaid dental coverage for services beneficial to adults with intellectual and developmental disabilities. J Am Dent Assoc. 2024.

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8. Kang J, Li Y, Lv S, Hao P, Li X. Effects of transcranial direct current stimulation on brain activity and cortical functional connectivity in children with autism spectrum disorders. Front Psychiatry. 2024; 15: 1407267.

INTRODUCTION: Transcranial direct current stimulation (tDCS) has emerged as a therapeutic option to mitigate symptoms in individuals with autism spectrum disorder (ASD). Our study investigated the effects of a two-week regimen of tDCS targeting the left dorsolateral prefrontal cortex (DLPFC) in children with ASD, examining changes in rhythmic brain activity and alterations in functional connectivity within key neural networks: the default mode network (DMN), sensorimotor network (SMN), and dorsal attention network (DAN). METHODS: We enrolled twenty-six children with ASD and assigned them randomly to either an active stimulation group (n=13) or a sham stimulation group (n=13). The active group received tDCS at an intensity of 1mA to the left DLPFC for a combined duration of 10 days. Differences in electrical brain activity were pinpointed using standardized low-resolution brain electromagnetic tomography (sLORETA), while functional connectivity was assessed via lagged phase synchronization. RESULTS: Compared to the typically developing children, children with ASD exhibited lower current source density across all frequency bands. Post-treatment, the active stimulation group demonstrated a significant increase in both current source density and resting state network connectivity. Such changes were not observed in the sham stimulation group. CONCLUSION: tDCS targeting the DLPFC may bolster brain functional connectivity in patients with ASD, offering a substantive groundwork for potential clinical applications.

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9. Khan S, Williams S, Cosgrove J, Bamford J, Alty J. Widening the Phenotype of Fragile-X Tremor Ataxia Syndrome in Females: Spasmodic Dysphonia in Two Patients. Mov Disord Clin Pract. 2024.

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10. Kim SH, Kim CR, Park D, Cho KH, Nam JS. Relationship between sleep disturbance and developmental status in preschool-aged children with developmental disorder. BMC Pediatr. 2024; 24(1): 373.

BACKGROUND: Sleep has been known to affect childhood development. Sleep disturbance is likely more common in children with developmental delay (DD) than in typical development. There are few studies on the correlation between sleep disturbance and developmental features in children with DD. Therefore, this study aimed to evaluate the associations between the two in children with DD. METHODS: A total of 45 children (age range 27.0 ± 11.1) with DD were recruited and evaluated using the Sleep Disturbance Scale for Children (SDSC) and Bayley Scales of Infant and Toddler Development (BSID-III). The outcomes are expressed as means and standard deviations. The correlation between SDSC and BSID-III was assessed using Spearman’s rank correlation test. Multiple regression analysis was performed to investigate the relationship between BSID-III domains and SDSC questionnaire subscales. Statistical significance was set at p < 0.05. RESULTS: Based on the correlation analysis and subsequent hierarchical regression analysis, cognition and socio-emotional domains of BSID-III were significantly associated with the DOES subscale of the SDSC questionnaire. In addition, the expressive language domain of the BSID-III was found to be associated with the DA subscale of the SDSC questionnaire. It seems that excessive daytime sleepiness might negatively affect emotional and behavioral problems and cognitive function. Also, arousal disorders seem to be related to memory consolidation process, which is thought to affect language expression. CONCLUSION: This study demonstrated that DA and DOES subscales of the SDSC questionnaire were correlated with developmental aspects in preschool-aged children with DD. Sleep problems in children with DD can negatively affect their development, thereby interfering with the effectiveness of rehabilitation. Identifying and properly managing the modifiable factors of sleep problems is also crucial as a part of comprehensive rehabilitation treatment. Therefore, we should pay more attention to sleep problems, even in preschool-aged children with DD.

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11. Lee V, Vashi N, Roudbarani F, Modica PT, Pouyandeh A, Sellitto T, Ibrahim A, Ameis SH, Elkader A, Gray KM, Kerns CM, Lai MC, Lake J, Thomson K, Weiss JA. Utility of a virtual small group cognitive behaviour program for autistic children during the pandemic: evidence from a community-based implementation study. BMC Health Serv Res. 2024; 24(1): 685.

BACKGROUND: Autistic children often experience socioemotional difficulties relating to emotion regulation and mental health problems. Supports for autistic children involve the use of adapted interventions that target emotion regulation and social skills, alongside mental health symptoms. The Secret Agent Society Small Group (SAS: SG), an adapted cognitive behavioural program, has demonstrated efficacy through lab-delivered randomized control trials. However, research is still needed on its effectiveness when delivered by publicly funded, community-based autism providers under real-world ecologically valid conditions, especially within the context of a pandemic. The COVID-19 pandemic has disrupted access to community-based supports and services for autistic children, and programs have adapted their services to online platforms. However, questions remain about the feasibility and clinical utility of evidence-based interventions and services delivered virtually in community-based settings. METHODS: The 9-week SAS: SG program was delivered virtually by seven community-based autism service providers during 2020-2021. The program included the use of computer-based games, role-playing tasks, and home missions. Caregivers completed surveys at three timepoints: pre-, post-intervention, and after a 3-month follow-up session. Surveys assessed caregivers’ perception of the program’s acceptability and level of satisfaction, as well as their child’s social and emotional regulation skills and related mental health challenges. RESULTS: A total of 77 caregivers (94% gender identity females; Mean = 42.1 years, SD = 6.5 years) and their children (79% gender identity males; Mean = 9.9 years, SD = 1.3 years) completed the SAS: SG program. Caregivers agreed that the program was acceptable (95%) and were highly satisfied (90%). Caregivers reported significant reduction in their child’s emotion reactivity from pre- to post-intervention (-1.78 (95% CI, -3.20 to -0.29), p = 0.01, d = 0.36), that continued to decrease after the 3-month booster session (-1.75 (95% CI, -3.34 to -0.16), p = 0.02, d = 0.33). Similarly, improvements in anxiety symptoms were observed (3.05 (95% CI, 0.72 to 5.36), p = 0.006, d = 0.39). CONCLUSIONS: As online delivery of interventions for autistic children remains popular past the pandemic, our findings shed light on future considerations for community-based services, including therapists and agency leaders, on how best to tailor and optimally deliver virtually based programming. TRIAL REGISTRATION: This study has been registered with ISRCTN Registry (ISRCTN98068608) on 15/09/2023. The study was retroactively registered.

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12. Li L, Zheng Q, Xue Y, Bai M, Mu Y. Coactivation pattern analysis reveals altered whole-brain functional transient dynamics in autism spectrum disorder. Eur Child Adolesc Psychiatry. 2024.

Recent studies on autism spectrum disorder (ASD) have identified recurring states dominated by similar coactivation pattern (CAP) and revealed associations between dysfunction in seed-based large-scale brain networks and clinical symptoms. However, the presence of abnormalities in moment-to-moment whole-brain dynamics in ASD remains uncertain. In this study, we employed seed-free CAP analysis to identify transient brain activity configurations and investigate dynamic abnormalities in ASD. We utilized a substantial multisite resting-state fMRI dataset consisting of 354 individuals with ASD and 446 healthy controls (HCs, from HC groups and 2). CAP were generated from a subgroup of all HC subjects (HC group 1) through temporal K-means clustering, identifying four CAPs. These four CAPs exhibited either the activation or inhibition of the default mode network (DMN) and were grouped into two pairs with opposing spatial CAPs. CAPs for HC group 2 and ASD were identified by their spatial similarity to those for HC group 1. Compared with individuals in HC group 2, those with ASD spent more time in CAPs involving the ventral attention network but less time in CAPs related to executive control and the dorsal attention network. Support vector machine analysis demonstrated that the aberrant dynamic characteristics of CAPs achieved an accuracy of 74.87% in multisite classification. In addition, we used whole-brain dynamics to predict symptom severity in ASD. Our findings revealed whole-brain dynamic functional abnormalities in ASD from a single transient perspective, emphasizing the importance of the DMN in abnormal dynamic functional activity in ASD and suggesting that temporally dynamic techniques offer novel insights into time-varying neural processes.

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13. Li Y, Xie T, Snieder H, Hartman CA. Associations between autistic and comorbid somatic problems of gastrointestinal disorders, food allergy, pain, and fatigue in adults. Autism. 2024: 13623613241254619.

What is already known about the topic?Autistic children frequently often have accompanying physical health problems. However, this has been much less studied in autistic men and women during adulthood.What does this article add?This is one of the first studies to investigate the associations between autistic and somatic problems in adults from the general population. Using a continuous measure of autistic symptom scores and a categorical definition of autism (referred to below as probable autism) which considered symptom severity, childhood age of onset, and functional impairment, we found that autistic problems and irritable bowel syndrome, food allergy, pain, and fatigue were associated in adults. Sex differences were present for pain and fatigue, for which the associations with autistic symptom scores were somewhat stronger in females than males. Regarding age differences, the associations with fatigue and having food allergy were more pronounced in younger adults. Conversely, older individuals had a higher risk of developing irritable bowel syndrome or experiencing pain if they met the criteria for probable autism.Implications for practice, research, or policyThere is a need for providing routine programs of screening, assessment, and treatment of autism-related somatic problems and developing evidence-based interventions for autistic individuals. These could be tailored to the needs of specific autistic populations. For example, autistic females could be given extra attention about the potential presence of pain and fatigue, younger adults about the potential presence of food allergy and fatigue, and older adults concerning the potential presence of irritable bowel syndrome and pain.

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14. Lin LH, Wu QY, Zeng K, Chen ZY, Wang ZP, Li WM, Zhang B, Gao TM, Liu JH. Medial amygdala NRG1 signaling mediates adolescent social isolation-induced autistic-like behaviors. Sci Bull (Beijing). 2024; 69(10): 1375-9.

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15. Luo H, Yang S, Zhang N, Huang L, Ge Y, Chen A, Zhu J, Zhang J. Diagnosis of Autism Spectrum Disorder by Dynamic Local Graph-Theory Indicators Based on Electroencephalogram. J Integr Neurosci. 2024; 23(5): 95.

BACKGROUND: Autism Spectrum Disorder (ASD) is a complex neurodevelopment disease characterized by impaired social and cognitive abilities. Despite its prevalence, reliable biomarkers for identifying individuals with ASD are lacking. Recent studies have suggested that alterations in the functional connectivity of the brain in ASD patients could serve as potential indicators. However, previous research focused on static functional-connectivity analysis, neglecting temporal dynamics and spatial interactions. To address this gap, our study integrated dynamic functional connectivity, local graph-theory indicators, and a feature-selection and ranking approach to identify biomarkers for ASD diagnosis. METHODS: The demographic information, as well as resting and sleeping electroencephalography (EEG) data, were collected from 20 ASD patients and 25 controls. EEG data were pre-processed and segmented into five sub-bands (Delta, Theta, Alpha-1, Alpha-2, and Beta). Functional-connection matrices were created by calculating coherence, and static-node-strength indicators were determined for each channel. A sliding-window approach, with varying widths and moving steps, was used to scan the EEG series; dynamic local graph-theory indicators were computed, including mean, standard deviation, median, inter-quartile range, kurtosis, and skewness of the node strength. This resulted in 95 features (5 sub-bands × 19 channels) for each indicator. A support-vector-machine recurrence-feature-elimination method was used to identify the most discriminative feature subset. RESULTS: The dynamic graph-theory indicators with a 3-s window width and 50% moving step achieved the highest classification performance, with an average accuracy of 95.2%. Notably, mean, median, and inter-quartile-range indicators in this condition reached 100% accuracy, with the least number of selected features. The distribution of selected features showed a preference for the frontal region and the Beta sub-band. CONCLUSIONS: A window width of 3 s and a 50% moving step emerged as optimal parameters for dynamic graph-theory analysis. Anomalies in dynamic local graph-theory indicators in the frontal lobe and Beta sub-band may serve as valuable biomarkers for diagnosing autism spectrum disorders.

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16. Martinez-Cayuelas E, Moreno-Vinués B, Pérez-Sebastián I, Gavela-Pérez T, Del Rio-Camacho G, Garcés C, Soriano-Guillén L. Sleep problems and circadian rhythm functioning in autistic children, autism with co-occurring attention deficit hyperactivity disorder, and typically developing children: A comparative study. Autism. 2024: 13623613241254594.

Sleep problems are common in autism spectrum disorder (ASD) and different factors can contribute to its occurrence in this population. Misalignment of the biological clock (our circadian system) has been described as one possible explanation. While there is a body of research on sleep problems, relatively less is known about circadian functioning and the specific population of autistic children with co-occurring attention deficit hyperactivity disorder (ADHD). Using an ambulatory circadian monitoring (ACM) system, which resembles a common watch, we gathered sleep parameters and the different rhythms obtained from measuring motor activity, light exposure and distal temperature in 87 autistic children and adolescents, 27 of whom were diagnosed with co-occurring ADHD, and 30 neurotypical children and adolescents as a comparison group. Autistic children and, especially, those with co-occurring ADHD showed greater motor activity during sleep which would be worth studying in future projects which could better define this restless sleep. Of note, we observed an atypical pattern of wrist temperature, with higher values in neurotypical children, followed by autistic children and, ultimately, those with co-occurring ADHD. Temperature is one of the most valuable factors evaluated here as it is closely connected to sleep-wakefulness and the hormone melatonin. Its special pattern during day and nighttime would support the hypothesis of an atypical secretion of melatonin in autistic individuals which would also link with the higher presence of sleep problems in this neurodevelopmental condition.

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17. Meera B, Fields B, Healy S, Columna L. Equine-assisted services for motor outcomes of autistic children: A systematic review. Autism. 2024: 13623613241255294.

Equine-assisted services use various aspects of horses, like their movement, warmth, and size, to enhance individuals’ overall well-being. Many studies have underscored the positive impact of equine-assisted services on autistic children, affecting areas such as social interaction, communication, engagement, stereotypical behaviors, and motor functions. Given the growing recognition of motor functions as clinical specifiers in autism, it is imperative to specifically investigate how equine-assisted services influence these outcomes. To address this, we conducted a systematic review to synthesize existing literature on the effects of equine-assisted services on motor outcomes of autistic children. Our review encompassed study characteristics, features of equine-assisted service interventions, and major motor outcomes. We also evaluated the methodological quality of the equine-assisted service studies to offer insights for future research directions. Through thorough database searches and the use of the standardized procedure of conducting a systematic review (The Preferred Reporting Items for Systematic Reviews and Meta-analyses), 12 research studies were identified and included. These studies reported the effects of various equine-assisted service types (such as therapy, horsemanship, or learning) on motor outcomes of autistic children. Significant enhancements in coordination, strength, balance, posture, and overall motor skills indicate the effectiveness of equine-assisted services in improving motor outcomes of autistic children. Building on these findings, we provide recommendations for future research endeavors aimed at enhancing the reliability and validity of using equine-assisted services to improve motor outcomes of autistic children. This work contributes to a deeper understanding of how equine-assisted services can benefit this population and guides the development of more effective equine-assisted service interventions.

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18. Mkhitaryan M, Avetisyan T, Mkhoyan A, Avetisyan L, Yenkoyan K. A case-control study on pre-, peri-, and neonatal risk factors associated with autism spectrum disorder among Armenian children. Sci Rep. 2024; 14(1): 12308.

We aimed to investigate the role of pre-, peri- and neonatal risk factors in the development of autism spectrum disorder (ASD) among Armenian children with the goal of detecting and addressing modifiable risk factors to reduce ASD incidence. For this purpose a retrospective case-control study using a random proportional sample of Armenian children with ASD to assess associations between various factors and ASD was conducted. The study was approved by the local ethical committee, and parental written consent was obtained. A total of 168 children with ASD and 329 controls were included in the analysis. Multivariable logistic regression analysis revealed that male gender, maternal weight gain, use of MgB6, self-reported stress during the pregnancy, pregnancy with complications, as well as use of labor-inducing drugs were associated with a significant increase in the odds of ASD, whereas Duphaston use during pregnancy, the longer interpregnancy interval and birth height were associated with decreased odds of ASD. These findings are pertinent as many identified factors may be preventable or modifiable, underscoring the importance of timely and appropriate public health strategies aimed at disease prevention in pregnant women to reduce ASD incidence.

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19. Napoli SB, Vitale MP, Urinovsky MG, Fassero MP, Buján L, Molina JP, Rodríguez E, Schiariti V. Functional assessment of children and adolescents with autism spectrum disorder in Argentina: ICF-ASD multicenter study. Arch Argent Pediatr. 2024: e202310171.

Introduction. Autism spectrum disorder (ASD) is characterized by difficulties in social communication and repetitive and stereotyped behaviors. In addition to the diagnostic category, the activities performed by children and adolescents and their social involvement are the main aspects to be considered according to the International Classification of Functioning, Disability, and Health (ICF) proposed by the World Health Organization to describe health status. In a previous study, we developed the first version of a pediatric tool based on the ICF called ICF-ASD for the functional assessment of children and adolescents with ASD to capture functional characteristics adapted to our cultural setting. Our subsequent objective was to apply the ICF-ASD in a multicenter format to assess children and adolescents from different regions, review, and update it, and identify barriers and facilitators. Population and methods. The ICF-ASD version 1.0 was administered to children and adolescents younger than 16 years with a confirmed diagnosis of ASD (as per DSM-5 criteria), who were receiving follow-up at 5 children’s health centers across Argentina. Results. Version 2.0 of the ICF-ASD was obtained, which included 34 categories (10 under body function, 15 under activities and participation, and 9 under environmental factors). A functional profile was developed for the whole sample (n = 308). Conclusions. The updated version of the ICF-ASD helps to standardize and systematize the collection of necessary data for an adequate follow-up of children and adolescents with ASD at a national level. It also allows to identify barriers to overcome and facilitators to be generalized.

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20. Salter J, Blainey S. The effectiveness of interventions for offending behaviours in adults with autism spectrum disorders (ASD): a systematic PRISMA review. BMC Psychol. 2024; 12(1): 316.

Previous research has suggested that the core features of autism spectrum disorders (ASD) may contribute to offending behaviours and increased vulnerability within the Criminal Justice System. To date, there is a paucity of evidence assessing the effectiveness of interventions for offending behaviour in adults with ASD but without co-occurring intellectual disability (ID) across a broad range of forensic settings. The lack of robust evidence is concerning, as limited effectiveness may contribute to an increased likelihood of prolonged incarceration, particularly in the most restrictive settings. A PRISMA systematic review was conducted with a narrative synthesis to: (a) evaluate the evidence of the effectiveness of interventions aimed at reducing recidivism, (b) assess whether the core features of ASD impact the effectiveness of these interventions, and (c) identify additional factors that may affect the effectiveness of interventions within this population. Seven studies involving ten male participants were identified. The findings suggest that interventions for offending behaviours in adults with ASD without intellectual disability (ID) are largely inadequate, and that core ASD features need to be considered. Additionally, a complex interplay of risk factors potentially impacting intervention effectiveness was suggested. Limitations include heterogeneity across intervention types, measures of effectiveness, and what constitutes effectiveness. Despite the limited number of studies and data quality, the review aligns with a growing body of literature highlighting vulnerability and a need for evidence-based interventions for people with ASD. The review also discusses the broader implications of ineffective interventions.

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21. Thorp HH. Bridging two views of autism. Science. 2024; 384(6699): 939.

Last week, Science, Science Advances, and Science Translational Medicine published an extensive set of papers from the PsychENCODE Consortium, a multi-institutional collaboration whose aim is to study the genetics of neuropsychiatric disorders such as bipolar disorder, autism spectrum disorder, and schizophrenia. The papers, collectively called PsychENCODE2, apply advances in single-cell and multi-omic technologies to postmortem brain tissue to elucidate factors that may help explain and develop treatments for neuropsychiatric conditions. The new insights gained from these considerable data will hopefully inspire new ways in which the clinical community can find common ground with researchers, something that is not always guaranteed in the contentious mental health field.

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22. Wang Z, Wu B, Wang Z, Song K, Xue Y, Zhang C, Wang Y. Comparison of Global Alignment and Proportion (GAP) Score and SRS-Schwab ASD Classification in the Analysis of Surgical Outcomes for Adult Spinal Deformity. Indian J Orthop. 2024; 58(6): 762-70.

STUDY DESIGN: The GAP score predicted post-operative mechanical complications more effectively whereas SRS-Schwab classification improved evaluation of postoperative PROMs. OBJECTIVE: The study compared the GAP Score and SRS-Schwab Classification in predicting surgical outcomes for adult spinal deformity (ASD) and elucidated whether both systems should be included in the preoperative planning. MATERIALS AND METHODS: Radiographic measurements and health-related quality of life scores at baseline, 6 weeks after surgery, and the last follow-up were collected from a cohort of 69 ASD patients subjected to long segment spinal fusion surgery after they were grouped by GAP score and SRS-Schwab classification respectively. Fisher’s exact test and receiver operator characteristic (ROC) curve analysis was used to compare the incidence of mechanical complications and the discriminant capacity during revision surgery between the two groups. Postoperative patient-reported outcomes measures (PROMs) were compared by one-way ANOVA, and the proportions of MCID achieved for PROMs compared by chi-square test between the two groups. RESULTS: The overall incidence of mechanical complications and revision surgery were 42% and 8.7%. Both GAP score and its categories predicted mechanical complications and revision surgery, but the GAP score system could not predict the improvements of PROMs. The SRS-Schwab classification could predict the occurrence of postoperative mechanical complications and improvements of postoperative PROMs between the aligned, moderately misaligned and severely misaligned groups (P < 0.05). CONCLUSION: Hence, a comprehensive surgical strategy for postoperative planning may improve patients' quality of life and minimize mechanical complications.

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23. Zhang B, Zhang J, Chen H, Qiao D, Guo F, Hu X, Qin C, Jin X, Zhang K, Wang C, Cui H, Li S. Role of FMRP in AKT/mTOR pathway-mediated hippocampal autophagy in fragile X syndrome. Prog Neuropsychopharmacol Biol Psychiatry. 2024: 111036.

Fragile X syndrome (FXS) is caused by epigenetic silencing of the Fmr1 gene, leading to the deletion of the coding protein FMRP. FXS induces abnormal hippocampal autophagy and mTOR overactivation. However, it remains unclear whether FMRP regulates hippocampal autophagy through the AKT/mTOR pathway, which influences the neural behavior of FXS. Our study revealed that FMRP deficiency increased the protein levels of p-ULK-1 and p62 and decreased LC3II/LC3I(LC3-II/I) level in Fmr1 knockout (KO) mice. The mouse hippocampal neuronal cell line HT22 with knockdown of Fmr1 by lentivirus showed that the protein levels of p-ULK-1 and p62 were increased, whereas LC3II/LC3I was unchanged. Further observations revealed that FMRP deficiency obstructed autophagic flow in HT22 cells. Therefore, FMRP deficiency inhibited autophagy in the mouse hippocampus and HT22 cells. Moreover, FMRP deficiency increased reactive oxygen species (ROS) level, decreased the co-localization between the mitochondrial outer membrane proteins TOM20 and LC3 in HT22 cells, and caused a decrease in the mitochondrial autophagy protein PINK1 in HT22 cells and Fmr1 KO mice, indicating that FMRP deficiency caused mitochondrial autophagy disorder in HT22 cells and Fmr1 KO mice. To explore the mechanism by which FMRP deficiency inhibits autophagy, we examined the AKT/mTOR signaling pathway in the hippocampus of Fmr1 KO mice, found that FMRP deficiency caused overactivation of the AKT/mTOR pathway. Rapamycin-mediated mTOR inhibition activated and enhanced mitochondrial autophagy. Finally, we examined whether rapamycin affected the neurobehavior of Fmr1 KO mice. The Fmr1 KO mice exhibited stereotypical behavior, impaired social ability, and learning and memory impairment, while rapamycin treatment improved behavioral disorders in Fmr1 KO mice. Thus, our study revealed the molecular mechanism by which FMRP regulates autophagy function, clarifying the role of hippocampal neuron mitochondrial autophagy in the pathogenesis of FXS, and providing novel insights into potential therapeutic targets of FXS.

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