1. Bartholomay KL, Jordan TL, Foland-Ross LC, Kendall N, Lightbody AA, Reiss AL. Alterations in cortical and subcortical neuroanatomy and associations with behavior in females with fragile X syndrome. Dev Med Child Neurol;2024 (Sep 15)

AIM: To address substantial gaps in the literature on neuroanatomical variations in females with fragile X syndrome (FXS). METHOD: Surface-based modeling techniques were applied to the magnetic resonance imaging of 45 females with FXS (mean age = 10 years 9 months, range 6 years-16 years 4 months, SD = 2 years 9 months) and 33 age-matched and developmentally matched females without FXS to elucidate differences in cortical gray matter volume, surface area, and thickness. Gray matter volumes in subcortical regions were examined to ascertain differences in subcortical volume. RESULTS: In females with FXS, cortical volume was greater bilaterally in the occipital pole and smaller in the right postcentral gyrus. Seven regions demonstrated lower surface area in participants with FXS, while cortical thickness was significantly greater over the posterior and medial surfaces in the group with FXS. Subcortical region of interest analyses demonstrated greater volume in the caudate nucleus, globus pallidus, and nucleus accumbens in the group with FXS. Global gray matter volume, pial thickness, and surface area were associated with behavioral outcomes in the group with FXS but not in the comparison group. INTERPRETATION: Females with FXS demonstrated unique cortical and subcortical gray matter anatomy relative to a matched comparison group. These findings may be relevant to the pathogenesis of the FXS behavioral phenotype and provide insights into behavioral interventions targeted to this population.

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2. Bass RD, Lafage R, Smith JS, Ames C, Bess S, Eastlack R, Gupta M, Hostin R, Kebaish K, Kim HJ, Klineberg E, Mundis G, Okonkwo D, Shaffrey C, Schwab F, Lafage V, Burton D. Benchmark Values for Construct Survival and Complications by Type of ASD Surgery. Spine (Phila Pa 1976);2024 (Sep 15);49(18):1259-1268.

OBJECTIVE: The aim of this study was to provide benchmarks for the rates of complications by type of surgery performed. STUDY DESIGN: Prospective multicenter database. BACKGROUND: We have previously examined overall construct survival and complication rates for ASD surgery. However, the relationship between type of surgery and construct survival warrants more detailed assessment. MATERIALS AND METHODS: Eight surgical scenarios were defined based on the levels treated, previous fusion status [primary (P) vs. revision (R)], and three-column osteotomy use (3CO): short lumbar fusion, LT-pelvis with 5 to 12 levels treated (P, R, or 3CO), UT-pelvis with 13 levels treated (P, R, or 3CO), and thoracic to lumbar fusion without pelvic fixation, representing 92.4% of the case in the cohort. Complication rates for each type were calculated and Kaplan-Meier curves with multivariate Cox regression analysis was used to evaluate the effect of the case characteristics on construct survival rate, while controlling for patient profile. RESULTS: A total of 1073 of 1494 patients eligible for 2-year follow-up (71.8%) were captured. Survival curves for major complications (with or without reoperation), while controlling for demographics differed significantly among surgical types ( P <0.001). Fusion procedures short of the pelvis had the best survival rate, while UT-pelvis with 3CO had the worst survival rate. Longer fusions and more invasive operations were associated with lower 2-year complication-free survival, however, there were no significant associations between type of surgery and renal, cardiac, infection, wound, gastrointestinal, pulmonary, implant malposition, or neurological complications (all P >0.5). CONCLUSIONS: This study suggests that there is an inherent increased risk of complication for some types of ASD surgery independent of patient profile. The results of this paper can be used to produce a surgery-adjusted benchmark for ASD surgery with regard to complications and survival. Such a tool can have very impactful applications for surgical decision-making and more informed patient counseling. LEVEL OF EVIDENCE: Level III.

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3. Chen S, Wang J, Xiaofang C, Zhang Y, Hong Y, Zhuang W, Huang X, Kang J, Ou P, Huang L. Chinese acupuncture: A potential treatment for autism rat model via improving synaptic function. Heliyon;2024 (Sep 15);10(17):e37130.

PURPOSE: Autistic symptom improvement can be observed in children treated with acupuncture, but the mechanism is still being explored. In the present study, we used scalp acupuncture to treat autism rat model, and then their improvement in the abnormal behaviors and specific mechanisms behind were revealed by detecting animal behaviors, analyzing the RNA sequencing of the prefrontal cortex (PFC), and observing the ultrastructure of PFC neurons under the transmission electron microscope. METHODS: On gestational day 12.5, Wistar rats were given valproic acid (VPA) by intraperitoneal injection, and their offspring were considered to be reliable rat models of autism. They were randomized to VPA or VPA-acupuncture group (n = 8). Offspring of Wistar pregnant rats that were simultaneously injected with saline were randomly selected as the wild-type group (WT). VPA_acupuncture group rats received acupuncture intervention at 23 days of age for 4 weeks, and the other two groups followed without intervention. After the intervention, all experimental rats underwent behavioral tests. Immediately afterward, they were euthanized by cervical dislocation, and their prefrontal cortex was isolated for RNA sequencing and transmission electron microscopy. RESULTS: The main results are as follows: 1. Animal behavioural tests: VPA group rats showed more anxiety-like behaviour and repetitive, stereotyped behaviour than WT group rats. While VPA group rats showed less spatial exploration ability, activity level, social interaction, and social novelty preference than WT group rats. It was gratifying to observe that acupuncture indeed improved these abnormal behaviors of autism rat model. 2. RNA-sequencing: The three groups of rats differed in the expression and enrichment pathways of multiple genes related to synaptic function, neural signal transduction, immune-inflammatory responses and circadian rhythm regulation. Our experiments indicated that acupuncture can alleviate the major symptoms of ASD by improving these neurological abnormalities. 3. Under the transmission electron microscopy, several lysosomes and mitochondrial structural abnormalities were observed in the prefrontal neurons of VPA group rats, which were manifested as atrophy of the mitochondrial membrane, blurring or disappearance of the mitochondrial cristae, and even vacuolization. Moreover, the number of synapses and synaptic vesicles was relatively small. Conversely, the mitochondrial structure of rats in the WT group and VPA_acupuncture was normal, and the number of synapses and synaptic vesicles was relatively large. CONCLUSION: Acupuncture effectively improved the abnormal behaviors of autism rat model and the ultrastructure of the PFC neurons, which might worked by improving their abnormal synaptic function, synaptic plasticity promoting neuronal signal transduction and regulating immune-inflammatory responses.

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4. Chen W, Yang J, Sun Z, Zhang X, Tao G, Ding Y, Gu J, Bu J, Wang H. DeepASD: a deep adversarial-regularized graph learning method for ASD diagnosis with multimodal data. Transl Psychiatry;2024 (Sep 14);14(1):375.

Autism Spectrum Disorder (ASD) is a prevalent neurological condition with multiple co-occurring comorbidities that seriously affect mental health. Precisely diagnosis of ASD is crucial to intervention and rehabilitation. A single modality may not fully reflect the complex mechanisms underlying ASD, and combining multiple modalities enables a more comprehensive understanding. Here, we propose, DeepASD, an end-to-end trainable regularized graph learning method for ASD prediction, which incorporates heterogeneous multimodal data and latent inter-patient relationships to better understand the pathogenesis of ASD. DeepASD first learns cross-modal feature representations through a multimodal adversarial-regularized encoder, and then constructs adaptive patient similarity networks by leveraging the representations of each modality. DeepASD exploits inter-patient relationships to boost the ASD diagnosis that is implemented by a classifier compositing of graph neural networks. We apply DeepASD to the benchmarking Autism Brain Imaging Data Exchange (ABIDE) data with four modalities. Experimental results show that the proposed DeepASD outperforms eight state-of-the-art baselines on the benchmarking ABIDE data, showing an improvement of 13.25% in accuracy, 7.69% in AUC-ROC, and 17.10% in specificity. DeepASD holds promise for a more comprehensive insight of the complex mechanisms of ASD, leading to improved diagnosis performance.

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5. Cusano J, Graham Holmes L, Caplan R, Rothman EF. Prevalence and Correlates of Dating Violence Victimization Among a U.S.-Based Sample of Autistic Youth. J Interpers Violence;2024 (Sep 15):8862605241275997.

Dating violence victimization is a pervasive public health problem that affects individuals of all age groups, but it holds particular significance during adolescence due to the potential long-term consequences on an individual’s physical and psychological well-being, and potential influence on the health of adult relationships. Although there is now ample research on the topic of adolescent dating violence prevalence, risk factors, and consequences, to our knowledge, only four studies have assessed dating violence victimization among autistic youth. The current study was designed to investigate the prevalence of, and risk markers for, dating violence victimization among autistic youth. Specifically, the study had two aims: (a) to estimate the prevalence of dating violence victimization among autistic youth in a U.S.-based sample and (b) to identify correlates of dating violence for autistic youth, which include sociodemographic, mental health, and alcohol-related variables. We found that among participants who were in a romantic relationship in the past year, autistic participants were not any less likely to experience dating violence victimization compared to their non-autistic counterparts (40.7% for autistic youth vs. 38.0% for non-autistic youth). In addition, findings from the current study demonstrate the significant relationships between dating violence victimization and consequences of alcohol use, loneliness, and anxiety among autistic youth. Existing studies, in addition to the results of the current study, suggest the need for tailored dating violence prevention, support, and intervention to support the overall well-being of autistic youth.

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6. Dias C. Characterizing the female brain in fragile X syndrome. Dev Med Child Neurol;2024 (Sep 15)

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7. Gao T, Dang W, Jiang Z, Jiang Y. Exploring the Missing link between vitamin D and autism spectrum disorder: Scientific evidence and new perspectives. Heliyon;2024 (Sep 15);10(17):e36572.

AIM: This study aims to address the key question of the causal relationship between serum levels of 25-hydroxyvitamin D (vitamin D) and autism spectrum disorders (ASD). METHODS: Publicly available Genome-Wide Association Study (GWAS) datasets were used to conduct the bidirectional Two-sample MR analyses using methods including inverse-variance weighted (IVW), weighted median, MR-Egger regression, simple mode, MR-PRESSO test, Steiger filtering, and weighted mode, followed by BWMR for validation. RESULTS: The MR analysis indicated that there was no causal relationship between Vitamin D as the exposure and ASD as the outcome in the positive direction of the MR analysis (IVW: OR = 0.984, 95 % CI: 0.821-1.18, P = 0.866). The subsequent BWMR validation stage yielded consistent results (OR = 0.984, 95 % CI 0.829-1.20, P = 0.994). Notably, in the reverse MR analysis with ASD as the exposure and Vitamin D as the outcome, the results suggested that the occurrence of ASD could lead to decreased Vitamin D levels (IVW: OR = 0.976, 95 % CI: 0.961-0.990, P = 0.000855), with BWMR findings in the validation stage confirming the discovery phase (OR = 0.975, 95 % CI: 0.958-0.991, P = 0.00297). For the positive MR analysis, no pleiotropy was detected in the instrumental variables. Similarly, no pleiotropy or heterogeneity was detected in the instrumental variables for the reverse MR analysis. Sensitivity analysis using the leave-one-out approach for both positive and reverse instrumental variables suggested that the MR analysis results were robust. CONCLUSION: Through the discovery and validation analysis process, we can confidently assert that there is no causative link between Vitamin D and ASD, and that supplementing Vitamin D is not expected to provide effective improvement for patients with ASD. Our study significantly advances a new perspective in ASD research and has a positive impact on medication guidance for patients with ASD.

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8. Jacinto M, Antunes R, Monteiro D, Rodrigues F, Amaro N, Campos MJ, Ferreira JP, Matos R. Examining the Effects of a 24-Week Exercise Program on Functional Capacity, Cognitive Capacity, and Quality of Life in Individuals With Intellectual and Developmental Disabilities. Adapt Phys Activ Q;2024 (Sep 14):1-19.

This study investigated the effects of two physical exercise programs for adults with intellectual and developmental disabilities. Twenty-one participants were assigned to an indoor group (IG, n = 7; 24-week gym intervention with machine), an outdoor group (OG, n = 7; 24-week outdoor intervention with low-cost materials) or a control group. The outcomes assessed included quality of life, dementia, and functional capacity. The IG significantly improved physical well-being compared with the control group (p = .017). There were no significant differences in dementia score between groups and moments. Postintervention, the IG showed improvements compared with the control group for the 30-s sit-to-stand test (p = .03), timed up-and-go (p = .00), and 6-min-walk test (p = .033) and between moments in the IG for 30-s sit-to-stand test (pre ≠ post; p = .007) and 6-min-walk test (pre ≠ post; p = .007). Outdoor interventions appeared effective for physical well-being, while indoor interventions using weight-training machines benefited functional capacity. No significant effects were observed for dementia/cognitive decline.

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9. Tromans SJ, Teece L, Saunders C, McManus S, Brugha T. Characteristics and primary care experiences of people who self-report as autistic: a probability sample survey of adults registered with primary care services in England. BMJ Open;2024 (Sep 13);14(9):e081388.

OBJECTIVES: Little is known about adults who self-report as autistic. This study aimed to profile the demographic characteristics, long-term health conditions and primary care experiences of adults who self-report as autistic (including those with and without a formal diagnosis). DESIGN/SETTING: A nationally representative cross-sectional survey of adults registered with National Health Service (NHS) General Practitioner (GP) surgeries in England. PARTICIPANTS: 623 157 survey respondents aged 16 and over, including 4481 who self-report as autistic. OUTCOMES: Weighted descriptive statistics, with 95% CIs. Logistic regression modelling adjusted for age, gender, ethnicity and area-level deprivation compared those who self-report as autistic with the rest of the population. RESULTS: A total of 4481 of the 623 157 survey participants included in the analysis self-reported autism, yielding a weighted proportion estimate of 1.41% (95% CI 1.35% to 1.46%). Adults self-reporting as autistic were more likely to be younger, male or non-binary, to identify as a gender different from their sex at birth, have a non-heterosexual sexual identity, be of white or mixed or multiple ethnic groups, non-religious, without caring responsibilities, unemployed, live in more deprived areas and not smoke. All chronic conditions covered were more prevalent among adults self-reporting as autistic, including learning disability, mental health conditions, neurological conditions, dementia, blindness or partial sight and deafness or hearing loss. Adults self-reporting as autistic were also less likely to report a positive experience of making an appointment (adjusted OR (aOR) 0.90, 95% CI 0.82 to 0.98) and navigating GP practice websites (aOR 0.78, 95% CI 0.70 to 0.87) and more likely to report seeking advice from a friend or family member prior to making an appointment (aOR 1.25, 95% CI 1.14 to 1.38) and having a preferred GP (aOR 2.25, 95% CI 2.06 to 2.46). They were less likely to report that their needs were met (aOR 0.73, 95% CI 0.65 to 0.83). CONCLUSIONS: Adults self-reporting as autistic have a distinctive sociodemographic profile and heightened rates of long-term conditions. They report challenges in both accessing primary care and having their needs met when they do. These findings should inform future care initiatives designed to meet the needs of this group.

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10. Wankhede N, Kale M, Shukla M, Nathiya D, R R, Kaur P, Goyanka B, Rahangdale S, Taksande B, Upaganlawar A, Khalid M, Chigurupati S, Umekar M, Kopalli SR, Koppula S. Leveraging AI for the diagnosis and treatment of autism spectrum disorder: Current trends and future prospects. Asian J Psychiatr;2024 (Sep 10);101:104241.

The integration of artificial intelligence (AI) into the diagnosis and treatment of autism spectrum disorder (ASD) represents a promising frontier in healthcare. This review explores the current landscape and future prospects of AI technologies in ASD diagnostics and interventions. AI enables early detection and personalized assessment of ASD through the analysis of diverse data sources such as behavioural patterns, neuroimaging, genetics, and electronic health records. Machine learning algorithms exhibit high accuracy in distinguishing ASD from neurotypical development and other developmental disorders, facilitating timely interventions. Furthermore, AI-driven therapeutic interventions, including augmentative communication systems, virtual reality-based training, and robot-assisted therapies, show potential in improving social interactions and communication skills in individuals with ASD. Despite challenges such as data privacy and interpretability, the future of AI in ASD holds promise for refining diagnostic accuracy, deploying telehealth platforms, and tailoring treatment plans. By harnessing AI, clinicians can enhance ASD care delivery, empower patients, and advance our understanding of this complex condition.

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