1. Bastan E, Beck SR, Surtees AD. Autistic people differ from non-autistic people subjectively, but not objectively in their reasoning. Autism. 2024: 13623613241277055.

Autistic people often experience challenges in social contexts, and when decisions need to be made quickly. There is evidence showing that autistic people have a tendency for greater deliberation and lower intuition, compared to non-autistic people. This has led to the researchers’ proposal that autism is associated with an enhanced level of rationality. However, these theories have been mostly explored through the lens of either only non-social domain or only social domain. To address this gap, we recruited autistic adults and carefully matched them with non-autistic adults for comparison. We used a task representing both social and non-social interactions in a comparison structure and asked participants’ moral judgements on scenarios’ main characters. This was complemented by subjective and objective measures of reasoning. Our findings did not reveal meaningful differences between groups in terms of deliberation. However, we did observe that autistic participants self-reported lower levels of intuition, compared to non-autistic participants. Autistic people consistently rate themselves as less intuitive than their counterparts. Nevertheless, objective evidence supporting this across tasks and studies is inconsistent.

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2. Campins-Romeu M, Conde-Sardón R, León-Guijarro JL, Sastre-Bataller I. Unilateral MRIgFUS thalamotomy: Long-term follow-up in fragile X-associated tremor/ataxia syndrome. Neurologia (Engl Ed). 2024; 39(8): 710-2.

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3. Choi JW, Oh J, Bennett DH, Kannan K, Tancredi DJ, Miller M, Schmidt RJ, Shin HM. Gestational exposure to organophosphate esters and autism spectrum disorder and other non-typical development in a cohort with elevated familial likelihood. Environ Res. 2024; 263(Pt 2): 120141.

BACKGROUND: Gestational exposure to organophosphate esters (OPEs) is known to affect offspring neurodevelopment in animal studies. However, epidemiological evidence is inconsistent. METHODS: Participants were 277 mother-child pairs from MARBLES (Markers of Autism Risk in Babies – Learning Early Signs), a cohort with elevated familial likelihood of autism spectrum disorder (ASD). Nine OPE biomarker concentrations were quantified in maternal urine collected during the 2nd or 3rd trimesters of pregnancy. At age 3 years, children underwent clinical assessment for ASD and were classified into ASD, other non-typical development (non-TD), or typical development (TD). Multinomial logistic regression was used to estimate associations between each OPE biomarker and relative risk ratios for ASD and non-TD compared to TD. We examined effect modification by child sex and socioeconomic status. We also conducted a secondary analysis by using a continuous measure of ASD symptom severity as an outcome. Quantile-based g-computation was performed to examine the associations for an OPE mixture. RESULTS: Overall, no significant association was observed between the concentrations of each OPE biomarker or their mixture and relative risk for either ASD or non-TD. Effect modifications by child sex and maternal education were not observed. When the analysis was stratified by homeownership, among non-homeowners, ASD likelihood was increased with increased levels of bis(1-chloro-2-propyl) phosphate, bis(butoxyethyl) phosphate, and sum of di-n-butyl phosphate and di-iso-butyl phosphate (DBUP/DIBP) (p(int) < 0.10). Higher DBUP/DIBP were associated with increased ASD symptom severity scores. CONCLUSION: There was no clear evidence of gestational OPE exposure in association with relative risk for ASD; however, potential effect modification by homeownership was observed. Although our cohort includes children with elevated familial likelihood of ASD, this is the first study investigating the association between gestational OPE exposure and clinically-diagnosed ASD. Further research is needed to confirm our findings in the general population.

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4. Gindi S, Ben Shabbat-Seri M, Nagar-Shimoni H, Gilat I, Leitner Y. « Breaking the news »-post-autism spectrum disorder diagnosis group intervention for parents to 6-18-year-old children. Clin Child Psychol Psychiatry. 2024; 29(4): 1417-31.

This study evaluated the effectiveness of a 3-session group intervention for parents who had received a diagnosis of autism for their child within the past month. The intervention group (N = 41) was compared to Treatment-as-Usual (N = 40): one meeting with a social worker after the diagnosis feedback meeting. Parental stress was evaluated in both groups within a week and then a month after the diagnosis. The findings indicate an increase in the experienced parental stress for the comparison group on all six indices, while in the intervention group there was an increase only on two indices. That is to say, the intervention reduced stress that occurred in the first month after the diagnosis. Further analyses revealed that parent satisfaction with the group intervention was the single most important variable in predicting stress reduction. We argue that parent support groups immediately after their child’s diagnosis are effective and important, and probably superior to a single post-diagnosis meeting. In this study, we looked at a program for parents whose child was recently diagnosed with autism. We compared a group of parents who went through a 3-session program with another group who had just one meeting with a social worker after getting the diagnosis. We checked how stressed these parents felt one week after the diagnosis and one month later. The results showed that the stress increased for the group with only one meeting, but for the group in the program, the stress increased only in a few areas. This means the program helped reduce stress in the first month after the diagnosis. We also found that parents who liked the group program were less stressed. This suggests that support groups for parents right after the diagnosis are helpful and important to reduce stress. eng.

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5. Heegaard M, Ingadottir K, Ragborg L, Dahl B, Hansen LV, Ohrt-Nissen S, Gehrchen M. The Association Between Hounsfield Units and Mechanical Failure in ASD Patients. Global Spine J. 2024: 21925682241291519.

STUDY DESIGN: Retrospective Cohort Study. OBJECTIVES: Low bone mineral density (BMD) is a known risk factor for revision surgery in patients with adult spinal deformity (ASD). Hounsfield units (HUs) on CT scans have been suggested as a proxy for assessing BMD. This study aimed to determine HUs in the lumbar region and their association with mechanical failure in patients undergoing ASD surgery. METHODS: We included ASD patients undergoing surgery from 2010-2020 with minimum 2-year follow-up. We excluded patients without preoperative CT scans, or a CT scan more than 1 year before surgery. Mechanical failure was defined as proximal junctional failure, pseudarthrosis, or implant failure requiring revision surgery. On preoperative CT scans, HUs were measured on 3 axial slices on each vertebra from L1-L5 and, if available, at UIV and UIV + 1. RESULTS: We included 170 patients, mean age 63 (±12) years, with 108 (64%) females, and 13 [IQR 10-16] instrumented levels. Mechanical failure occurred in 27% (n = 46) of patients at 2-year follow-up. Mean lumbar HUs were 146 (±51) in the mechanical failure group and 135 (±52) in those without revision (P = .232). Area under the curve was 0.58 (95% CI: 0.48-0.68), corresponding to no to low discriminatory power in predicting mechanical failure using lumbar HUs. Univariate logistic regression revealed no significant difference between mechanical failure and lumbar HUs (OR = 1.00, 95% CI: 1.00-1.01, P = .239). CONCLUSIONS: We found no association between mechanical failure and HUs on preoperative CT scans in ASD patients. Thus, we cannot recommend using HUs to predict mechanical failure in these patients.

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6. Liu X, Cherepanov S, Abouzari M, Zuko A, Yang S, Sayadi J, Jia X, Terao C, Sasaki T, Yokoyama S. R150S mutation in the human oxytocin receptor: Gain-of-function effects and implication in autism spectrum disorder. Peptides. 2024; 182: 171301.

This study investigates the rs547238576 (R150S) missense variant in the oxytocin receptor (OXTR) gene, previously observed through screening of rare variants in Japanese individuals with autism spectrum disorders (ASD). Contrary to the anticipated loss-of-function, R150S exhibits gain-of-function effects, enhancing oxytocin (OXT) sensitivity, ligand-binding affinity, and OXT-induced Ca(2+) mobilization in vitro. This suggests R150S may alter OXT signaling, potentially contributing to the excitatory/inhibitory imbalance seen in ASD and other psychiatric disorders. Our findings underscore the significance of genetic variations in OXTR on functional activity and highlight the necessity for population-specific genetic study and in vitro analysis to elucidate genetic susceptibilities to neuropsychiatric conditions.

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7. Osaki T, Wan Z, Haratani K, Jin Y, Campisi M, Barbie DA, Kamm RD, Sur M. miR126-mediated impaired vascular integrity in Rett syndrome. bioRxiv. 2024.

Rett syndrome (RTT) is a neurodevelopmental disorder that is caused by mutations in melty-CpG binding protein 2 (MeCP2). MeCP2 is a non-cell type-specific DNA binding protein, and its mutation influences not only neural cells but also non-neural cells in the brain, including vasculature associated with endothelial cells. Vascular integrity is crucial for maintaining brain homeostasis, and its alteration may be linked to the pathology of neurodegenerative disease, but a non-neurogenic effect, especially the relationship between vascular alternation and Rett syndrome pathogenesis, has not been shown. Here, we recapitulate a microvascular network using Rett syndrome patient-derived induced pluripotent stem (iPS) cells that carry MeCP2[R306C] mutation to investigate early developmental vascular impact. To expedite endothelial cell differentiation, doxycycline (DOX)-inducible ETV2 expression vectors were inserted into the AAVS1 locus of Rett syndrome patient-derived iPS cells and its isogenic control by CRISPR/Cas9. With these endothelial cells, we established a disease microvascular network (Rett-dMVNs) and observed higher permeability in the Rett-dMVNs compared to isogenic controls, indicating altered barrier function by MeCP2 mutation. Furthermore, we unveiled that hyperpermeability is involved in the upregulation of miR126-3p in Rett syndrome patient-derived endothelial cells by microRNA profiling and RNAseq, and rescue of miR126-3p level can recover their phenotype. We discover miR126-3p-mediated vascular impairment in Rett syndrome patients and suggest the potential application of these findings for translational medicine.

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8. Rajaram P, Marimuthu M. Neuro connect: Integrating data-driven and BiGRU classification for enhanced autism prediction from fMRI data. Network. 2024: 1-32.

Autism Spectrum Disorder (ASD) poses a significant challenge in early diagnosis and intervention due to its multifaceted clinical presentation and lack of objective biomarkers. This research presents a novel approach, termed Neuro Connect, which integrates data-driven techniques with Bidirectional Gated Recurrent Unit (BiGRU) classification to enhance the prediction of ASD using functional Magnetic Resonance Imaging (fMRI) data. This study uses both structural and functional neuroimaging data to investigate the complex brain underpinnings of autism spectrum disorder (ASD). They use an Auto-Encoder (AE) to efficiently reduce dimensionality while retaining critical information by learning and compressing important characteristics from high-dimensional data. We treat the feature-extracted data using a BiGRU model for the classification task of predicting ASD. They provide a new optimization strategy, the Horse Herd Algorithm (HHA), and show that it outperforms other established optimizers, such SGD and Adam, in order to improve classification accuracy. The model’s performance is greatly enhanced by the HHA’s novel optimization technique, which more precisely refines weight modifications made during training. The proposed ASD and EEG dataset accuracy value is 99.5%, and 99.3 compared to the existing method the proposed has a high accuracy value.

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9. Schaubroeck S, Demurie E, Begum-Ali J, Bölte S, Boterberg S, Buitelaar J, Charman T, Falck-Ytter T, Hunnius S, Johnson M, Jones E, Pasco G, Van den Boomen C, Warreyn P, Roeyers H. Investigating the Predictive Validity of the Quantitative Checklist for Autism in Toddlers and the Autism Diagnostic Observation Schedule-2 in Children at Elevated Likelihood for Autism. J Autism Dev Disord. 2024.

This study examined the recurrence rate of autism in siblings at elevated likelihood (EL) and the predictive validity of the Q-CHAT and ADOS-2 at 14 and 24 months (m) for a clinical best estimate (CBE) autism diagnosis at 3 years. 331 EL-siblings (47.9% girls) from the prospective longitudinal EuroSibs study underwent ADOS-2 assessments and caregivers completed the Q-CHAT at 14 m and 24 m. At 3 years CBE was determined using DSM-5 criteria. Sensitivity, specificity, positive predictive value (PPV) and negative predictive value (NPV) were estimated. Autism recurrence rate was 25.7% [95% CI (21.1, 30.6)]. Q-CHAT sensitivity was 31.8% [95% CI (21.4, 43.6)] at 14 m and 30.6% [95% CI (20.7, 41.7)] at 24 m. Specificity was 81.2% [95% CI (75.4, 86.2)] at 14 m and 94.8% [95% CI (91.2, 97.2)] at 24 m. PPV was 35.6% [95% CI (24.2, 48.2)] at 14 m and 66.7% [95% CI (49.8, 81.1)] at 24 m. NPV was 78.5% [95% CI (72.6, 83.7)] and 79.9% [95% CI (74.7, 84.6)] respectively. ADOS-2 demonstrated a of 64.3% [95% CI (45.9, 80.2)] and 69.3% [95% CI (58.4, 79.0)] and a specificity of 71.1% [95% CI (60.3, 80.4)] and 68.7% [95% CI (62.5, 74.5)] at 14 m and 24 m respectively. PPV was 45% [95% CI (30.3, 60.4)] at 14 m and 41.9% [95% CI (33.5, 50.7)] at 24 m. NPV was 84.4% [95% CI (74.2, 91.8)] at 14 m and 87.3% [95% CI (81.9, 91.6)] at 24 m. Q-CHAT and ADOS-2 at 14 m and 24 m can aid in early differentiation between EL-siblings who need further assessment and those who do not, but neither has sufficient sensitivity and PPV for standalone CBE diagnosis prediction.

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10. Tropea D. Trofinetide treatment for Rett syndrome: Lessons to learn. Med. 2024; 5(10): 1194-6.

The US FDA approval of trofinetide as the first pharmacological treatment to improve Rett syndrome’s symptomatology marks a significant milestone with broad implications for various disorders. The LILAC trials demonstrate long-term safety and efficacy of trofinetide.(1)(,)(2) While further research is needed to fully resolve the condition, insights from trofinetide trials can inform strategies for future treatments and trials.

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