1. Boulton KA, Guastella AJ. Development of precision medicine approaches to advance clinical trials for autism and social behavior: A research imperative. Proc Natl Acad Sci U S A;2025 (Jan 7);122(1):e2424066122.

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2. Chikezie-Darron O, Sakai J, Tolson D. Analysis of Disparities in Diagnosis of Autism Spectrum Disorder in the Military Health System Pediatrics Population. J Autism Dev Disord;2025 (Jan 9)

There have been disparities reported in prevalence of autism by gender, race, and socioeconomic status with older ages of diagnosis in non-White and in female children. Possible disparities in the ages of autism diagnosis are not well-established within the Military Health System (MHS) pediatric population, where we hypothesized less disparities given universal Tricare coverage for active-duty military families and theoretically equal access to the military treatment facility (MTF). We conducted retrospective cross-sectional analysis using deidentified database repository records from the MHS. We collected and analyzed demographic data on children covered by Tricare and newly diagnosed with autism within an MTF (N = 31,355) or outside of the MTF (5,579 respectively). Within the MTF, we identified younger ages of autism diagnosis in non-White children less than 18 years old (p < 2.2e(-16)), without significant differences in ages of diagnosis by race in children less than 6 years of age. There were no statistically significant differences in ages of diagnosis between males and females. Outside the MTF, we identified younger ages of autism diagnosis in males versus females with statistically significant difference in average ages of autism diagnosis between males and females less than the age of 18 years (p = 4.4e-08). This difference was not seen in children less than 6 years of age. Racial data was not available for diagnosis outside the MTF. The age of autism diagnosis in the military pediatric population within the MTF did not reflect historical disparities seen in non-White and in female children.

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3. Elmaghraby R, Blank E, Miyakoshi M, Gilbert DL, Wu SW, Larsh T, Westerkamp G, Liu Y, Horn PS, Erickson CA, Pedapati EV. Probing the Neurodynamic Mechanisms of Cognitive Flexibility in Depressed Individuals with Autism Spectrum Disorder. J Child Adolesc Psychopharmacol;2025 (Jan 10)

Introduction: Autism spectrum disorder (ASD) is characterized by deficits in social behavior and executive function (EF), particularly in cognitive flexibility. Whether transcranial magnetic stimulation (TMS) can improve cognitive outcomes in patients with ASD remains an open question. We examined the acute effects of prefrontal TMS on cortical excitability and fluid cognition in individuals with ASD who underwent TMS for refractory major depression. Methods: We analyzed data from an open-label pilot study involving nine participants with ASD and treatment-resistant depression who received 30 sessions of accelerated theta burst stimulation of the dorsolateral prefrontal cortex, either unilaterally or bilaterally. Electroencephalography data were collected at baseline and 1, 4, and 12-weeks posttreatment and analyzed using a mixed-effects linear model to assess changes in regional cortical excitability using three models of spectral parametrization. Fluid cognition was measured using the National Institutes of Health Toolbox Cognitive Battery. Results: Prefrontal TMS led to a decrease in prefrontal cortical excitability and an increase in right temporoparietal excitability, as measured using spectral exponent analysis. This was associated with a significant improvement in the NIH Toolbox Fluid Cognition Composite score and the Dimensional Change Card Sort subtest from baseline to 12 weeks posttreatment (t = 3.79, p = 0.005, n = 9). Improvement in depressive symptomatology was significant (HDRS-17, F (3, 21) = 28.49, p < 0.001) and there was a significant correlation between cognitive improvement at week 4 and improvement in depression at week 12 (r = 0.71, p = 0.05). Conclusion: These findings link reduced prefrontal excitability in patients with ASD and improvements in cognitive flexibility. The degree to which these mechanisms can be generalized to ASD populations without Major Depressive Disorder remains a compelling question for future research.

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4. Geysens M, Huremagic B, Souche E, Breckpot J, Devriendt K, Peeters H, Van Buggenhout G, Van Esch H, Van Den Bogaert K, Vermeesch JR. Clinical evaluation of long-read sequencing-based episignature detection in developmental disorders. Genome Med;2025 (Jan 10);17(1):1.

BACKGROUND: A subset of developmental disorders (DD) is characterized by disease-specific genome-wide methylation changes. These episignatures inform on the underlying pathogenic mechanisms and can be used to assess the pathogenicity of genomic variants as well as confirm clinical diagnoses. Currently, the detection of these episignature requires the use of indirect methylation profiling methodologies. We hypothesized that long-read whole genome sequencing would not only enable the detection of single nucleotide variants and structural variants but also episignatures. METHODS: Genome-wide nanopore sequencing was performed in 40 controls and 20 patients with confirmed or suspected episignature-associated DD, representing 13 distinct diseases. Following genomic variant and methylome calling, hierarchical clustering and dimensional reduction were used to determine the compatibility with microarray-based episignatures. Subsequently, we developed a support vector machine (SVM) for the detection of each DD. RESULTS: Nanopore sequencing-based methylome patterns were concordant with microarray-based episignatures. Our SVM-based classifier identified the episignatures in 17/19 patients with a (likely) pathogenic variant and none of the controls. The remaining patients in which no episignature was identified were also classified as controls by a commercial microarray assay. In addition, we identified all underlying pathogenic single nucleotide and structural variants and showed haplotype-aware skewed X-inactivation evaluation directs clinical interpretation. CONCLUSION: This proof-of-concept study demonstrates nanopore sequencing enables episignature detection. In addition, concurrent haplotyped genomic and epigenomic analyses leverage simultaneous detection of single nucleotide/structural variants, X-inactivation, and imprinting, consolidating a multi-step sequential process into a single diagnostic assay.

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5. Goscicki BL, Scoggins ME, Espinosa GH, Hodapp RM. A « Round, Bruising Sort of Pain »: Autistic Girls’ Social Camouflaging in Inclusive High School Settings. J Autism Dev Disord;2025 (Jan 10)

Although autistic females often « camouflage » their autism, few studies examine the degree to which adolescent females demonstrate these behaviors in inclusive school settings. We examined: (a) the nature, extent, and underlying motivation of camouflaging in high school; (b) the extent to which autistic girls’ characteristics related to camouflaging settings, people, benefits, costs, and school supports; and (c) how girls’ open-ended descriptions agreed with closed-ended camouflaging ratings. Using quantitative and qualitative analyses, this study examined the extent, domains, costs, and benefits of autistic females’ school-based camouflaging. Thirty-one autistic female adolescents, all included in general education classrooms, answered rating and interview questions. Autistic females camouflaged most often in general education classrooms and with teachers and neurotypical peers that they did not know well; least often at home or with neurodivergent friends. Later age of diagnosis was associated with more camouflaging and camouflaging costs. Qualitative analyses revealed four themes: autistic identity; negative peer experiences; negative consequences of camouflaging; and value of neurodivergent friends. Some qualitative findings converged with quantitative findings, others diverged. Implications are discussed for research and practice for supporting autistic females in general education school settings.

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6. Hotez E, Rava J, Khorasani L, Levenson AP, Shen T, Chen L, Klomhaus AM, Kuo AA. A pilot-test to support healthcare providers in promoting vaccine uptake among individuals with intellectual and developmental disabilities. Am J Prev Med;2025 (Jan 7)

Individuals with intellectual and/or developmental disabilities (I/DDs) encounter barriers to vaccine access, uptake, and confidence, leading to health inequities. These include barriers related to healthcare provider capacity to effectively address the social determinants of health, provide accessible needle procedures, and translate and disseminate inclusive public health information. The current study aimed to test the preliminary effectiveness of a virtual continuing medical education (CME) course on enhancing healthcare provider capacity to address these barriers. This CME was available free-of-charge online. Participants included 120 healthcare providers (physicians: 45%; nurses: 37%; and other learners: 18%) in internal medicine, family practice, and related disciplines. The CME-created based on video interviews with patients and providers-focused on factors that affect vaccine uptake/access/confidence (Module 1); strategies to increase vaccine receipt (Module 2); and inclusive public health communication (Module 3). The pre-post survey assessed self-reported understanding, confidence, and abilities. Following CME completion, learners were significantly more likely to report higher understanding, confidence, and abilities in responding to the social determinants of health (Module 1); addressing barriers to vaccine access/uptake/confidence (Module 2); and engaging in effective public health communication (Module 3). Findings support the utility of short-term healthcare provider trainings on this topic. Future research should evaluate longer-term impacts and identify opportunities to create standardized medical curricula for this population.

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7. Kang J, Lv S, Li Y, Hao P, Li X, Gao C. The effects of neurofeedback training on behavior and brain functional networks in children with autism spectrum disorder. Behav Brain Res;2025 (Jan 7);481:115425.

Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder with an unclear pathogenesis to date. Neurofeedback (NFB) had shown therapeutic effects in patients with ASD. In this study,we analyzed the brain functional networks of children with ASD and investigated the impact of NFB targeting the beta rhythm training on these networks. The Autism Behavior Checklist (ABC) and Social Response Scale (SRS) were employed to evaluate the effects of NFB training on the behavioral abilities of children with ASD. We compared the differences in static and dynamic brain functional networks between ASD and Typically Developing (TD) children, also explored the changes in these networks in ASD children after 20 sessions of NFB training. The Weighted Phase Lag Index (wPLI) was used to construct static functional networks, and the Fuzzy Entropy (FuzzyEn) algorithm was further employed to measure the complexity of static functional connectivity and construct dynamic functional networks. This allowed the analysis of functional connectivity and fluctuations in the static functional networks of ASD and TD children, as well as the time variability of the dynamic functional networks. Additionally, the study explored the changes in brain functional networks and behavioral scales before and after NFB training. Results from behavioral scales indicated significant improvements in cognitive, communication, language, and social scores in ASD children following NFB intervention. EEG analysis revealed that static functional connectivity was lower, connectivity variability was higher, and temporal variability was greater in ASD children compared to TD children. Following NFB training, increased functional connectivity, reduced connectivity variability in the Delta frequency band, and decreased temporal variability were observed in ASD children. The results revealed abnormalities in both static and dynamic functional networks in children with ASD, with NFB training showed potential to modulate these networks. While our results showed that NFB training can assist participants in regulating connectivity and temporal variability in specific brain regions, robust evidence for its effectiveness in alleviating core symptoms of ASD remained limited.

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8. Liu WX, Shan L, Li CL, Liu YM, Xue Y, OuYang YL, Jia FY. Effects of the Early Start Denver Model on emotional dysregulation and behavior problems in children with Autism spectrum disorder : Effects of the early start Denver model on emotional dysregulation and behavior problems in Chinese children with Autism spectrum disorder. BMC Pediatr;2025 (Jan 9);25(1):19.

BACKGROUND: Most previous studies have focused on the clinical efficacy after intervention of ESDM, particularly in core symptoms. However, only a few have paid attention to the effectiveness of ESDM on emotional dysregulation and behavior problems in children with ASD. This study aimed to explore the effect of the ESDM on addressing emotional dysregulation and behavior problems in children with ASD in China, as well as its correlation with core symptoms of ASD. METHODS: A total of 319 children aged 1.5 to 5 years were included in this study and received treatment based on the ESDM intervention program Baseline assessment (T0) was conducted before intervention, including Children Behavior Checklist (CBCL), Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS). All children with ASD were examined in the assessment (T1) after 12 weeks of treatment. Emotional dysregulation and behavior problems in children with ASD were measured using CBCL, while ABC and CARS were used to evaluate the core symptoms. RESULTS: In the T1 assessment, the core symptoms of children with ASD in ABC and CARS showed significant differences. Subscale scores of ABC and the severity of CARS, including senses, relationships, stereotypes objects to use, self-help and social also exhibited significant differences. The children showed significant differences in both total score and subscale scores of CBCL(P < 0.05), which included emotionally/reactive, anxious/depressed, somatic complaints, withdrawal, sleep problems, attention problems, aggressive behavior, internalization and externalization. The children demonstrated significant differences in scores of CBCL-AAA (P < 0.05), taking into account the combined total of attention, aggression and anxious/depressed CBCL T scores. In addition, a consistent positive correlation was observed between the overall scores of CBCL and the core symptoms of children with ASD as indicated by ABC and CARS in both T0 and T1(P < 0.01). In T0, the CBCL-AAA scores were positively associated with the core symptoms of children with ASD as reflected by CARS(P < 0.01), as well as senses of ABC( P < 0.05). During T1, a noteworthy significant positive correlation was observed between the CBCL-AAA scores and the core symptoms of children with ASD as indicated by both ABC and CARS assessment (P < 0.05). CONCLUSIONS: Children with ASD benefit from ESDM, not only in terms of improving their core symptoms, but also in terms of improving their emotional dysregulation and behavior problems, and ESDM could be considered as one of the early treatment options for overall psychological promotion. The core symptoms of children with ASD are significantly associated with emotional dysregulation and behavior problems in young children, both cross-sectionally and prospectively for the short term over time. Emotional dysregulation and behavior problems represent an important comorbidity, and could be considered as potential treatment targets for treatment for improving emotional stability in ASD.

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9. Locke J, Sridhar A, Shih W, Shire S, Eisman AB, Kim E, Du A, Espeland C, Kasari C. Study protocol for a hybrid type 3 effectiveness-implementation trial of a team-based implementation strategy to support educators’ use of a social engagement intervention. Implement Sci;2025 (Jan 9);20(1):3.

BACKGROUND: Remaking Recess (RR) is a school-based evidence-based peer social engagement intervention for autistic students. RR involves direct training and coaching with educators; however, educators face several barriers to implementation at both the individual- and organizational-levels. This protocol paper describes a multi-site study that will test whether an educator-level implementation strategy, coaching, with or without a school-level implementation strategy, school-based teams, will maximize educators’ use (fidelity and sustainment) of RR for autistic students and their peers who are socially-isolated, rejected, or peripheral and may need additional support during recess. METHODS: This study will employ a hybrid type-3 effectiveness-implementation trial. Fifty-five elementary schools will be recruited as well as 121 educators (e.g., classroom assistants, aides), 55 general and special educator teachers, and 83-138 other school personnel (e.g., administrators). Additionally, at least 118 autistic students and allistic or non-autistic classmates will be recruited as RR recipients. Participants will complete baseline assessments at the beginning of the year, and all schools will be provided RR training. Schools will be randomized to coaching with or without school-based teams. This study will measure RR fidelity (primary outcome), RR sustainment, as well as peer engagement, social network inclusion, and social skills (secondary outcomes). It is expected that coaching with school-based teams will improve both RR fidelity and social network inclusion, while coaching with and without school-based teams will result in improved peer engagement and social skills. DISCUSSION: Previous research has documented barriers to RR implementation at both the individual- (provider) and organization-level (school). Using multi-level implementation strategies such as coaching with school-based teams may address these barriers and support RR implementation in schools. Findings from this study may guide future efforts to scale up tailored implementation strategies for use in public school districts, with the ultimate goal of increasing intervention access and improving student outcomes. TRIAL REGISTRATION: Name of the Registry: clinicaltrials.gov. TRIAL REGISTRATION: Clinical Trials ID: NCT06559267 . Date of Registration: August 15, 2024. Prospectively registered.

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10. Menezes M, Pappagianopoulos J, Smith JV, Howard M, Brunt S, Witte L, Anderson S, Boyd BA, Mazurek MO. Prevalence of discrimination experienced by autistic youth as compared to neurotypical youth and youth with other neurodevelopmental diagnoses. Autism;2025 (Jan 10):13623613241312445.

Autistic individuals have described facing unfair or discriminatory treatment across settings, such as in school and at work. However, there have been few studies examining how widespread or prevalent discrimination is against autistic individuals. We aimed to fill that gap by examining how prevalent or common it is for autistic youth to experience discrimination based on race or ethnicity, sexual orientation or gender identity, and health condition or disability. We compared rates of discrimination against autistic youth to youth without developmental differences/diagnoses and youth with other developmental differences (i.e. youth diagnosed with attention-deficit/hyperactivity disorder [ADHD], learning disability, and speech/language disorders). We analyzed data from the 2021-2022 National Survey of Children’s Health, which is a nationwide survey on which parents report about aspects of their children’s lives. We found that autistic youth experience higher rates of discrimination based on race or ethnicity and sexual orientation or gender identity compared to youth who are typically developing and do not have a diagnosis (such as a speech or language disorder). Importantly, they also face significantly more discrimination due to their disability than youth with other diagnoses, such as ADHD, and youth without a developmental diagnosis. These results show that autistic youth are at risk for experiencing discriminatory treatment. Our study should motivate researchers, policymakers, and community members to address this critical issue.

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11. Pađen L, Vettorazzi R, Ravljen M, Pajnič M. Slovenian Nursing Students’ Perspectives and Experiences with Nursing Care of People with Intellectual and Developmental Disabilities: A Qualitative Descriptive Study. Healthcare (Basel);2025 (Jan 1);13(1)

Background/Objectives: Providing nursing care for individuals with intellectual and developmental disabilities can be challenging for nursing students, often perceived as stressful, demanding, and, at times, unpleasant. This study aimed to describe the experiences of students in their interactions and provision of nursing care for people with intellectual and developmental disabilities. Methods: A qualitative descriptive study was conducted. Fourteen self-reflections from nursing students were analysed by using qualitative content analysis. Results: The findings indicate that students experience contact and nursing care for individuals with intellectual and developmental disabilities as dynamic and varied. This process is characterised by transitions in communication and interaction, emotional transitions, and transitions in knowledge and understanding of caring and nursing care. Conclusions: Students encountered emotional, cognitive, and behavioural challenges when interacting with and providing care for individuals with intellectual and developmental disabilities. Their experience is described as multidimensional and demanding. Gaining insight into these experiences and understanding the students’ perspectives are essential for planning future theoretical and practical nursing education.

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12. Raulston TJ, Ousley CL, Hinton EM, Ramirez AM. Beyond Trial Counts: Considerations for Measuring Play and Engagement During Early Intervention for Autistic Children. Behav Anal Pract;2024 (Dec);17(4):1216-1227.

Play is critical to child development. In early childhood, object play evolves from exploratory behavior to complex symbolic play. Engagement during play, particularly joint engagement, is essential for learning and social interaction. Board Certified Behavior Analysts® (BCBAs) who provide early intervention services to young autistic children may experience barriers when designing programming and data collection systems for play and engagement. In this paper, we compare Naturalistic Developmental Behavioral Intervention (NDBI) and Natural Environment Teaching (NET) approaches. Considerations for measuring object play and engagement during naturalistic play routines are presented. We encourage BCBAs to consider simple frequency counts when measuring object play actions and interval recording or rating scales for tracking engagement states. These methods may better accommodate the variability in play and engagement behavior, allow for more flexible play routines, and support a more nuanced analysis of child progress.

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13. Ren Y, Hu W, Gao Z, Shi J, Liu Y, Zhang H. De novo KCNB1 missense variant causing developmental and epileptic encephalopathy: Two case reports. Medicine (Baltimore);2025 (Jan 10);104(2):e41236.

RATIONALE: Developmental and epileptic encephalopathy (DEE) defines a group of severe and heterogeneous neurodevelopmental disorders. The voltage-gated potassium channel subfamily 2 voltage-gated potassium channel α subunit encoded by the KCNB1 gene is essential for neuronal excitability. Previous studies have shown that KCNB1 variants can cause DEE. Herein, we report the cases of 2 children with DEE caused by pathogenic variants in the KCNB1 gene. Trio whole-exome sequencing identified novel KCNB1 genotypes, c. 1160C > A and c.1012C > T, which had not been reported previously, in 2 unrelated patients. PATIENT CONCERNS: Two children were admitted to our hospital for a detailed evaluation of frequent seizures. And both of these children have abnormal electroencephalogram and brain magnetic resonance imaging results, accompanied by developmental delay. DIAGNOSES: A genetic study using trio-whole-exome sequencing confirmed the diagnosis of KCNB1-related developmental and epileptic encephalopathy. INTERVENTIONS: Both patients accepted the treatment of antiepileptic drugs. 1 patient had seizure remission with a combination of sodium valproate and lamotrigine, and the other was lost to follow-up. OUTCOMES: Trio-whole-exome sequencing technology was used to determine the etiology of the 2 children with DEE. LESSONS: This study confirmed that genetic testing provides a basis for the diagnosis of children with abnormal electroencephalogram and brain magnetic resonance imaging findings and developmental delay, and provides data supporting a future phenotype-genotype correlation study.

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14. Robinson J, Gendelberg D, Chung A, Jimenez-Almonte JH, Khandehroo B, Anand N. Segmental Interbody, Muscle-Preserving, Ligamentotaxis-Enabled Reduction: « SIMPLER » Technique for cMIS Correction of ASD. Int J Spine Surg;2025 (Jan 10)

BACKGROUND: Correction of adult spinal deformity (ASD) through minimally invasive techniques is a challenging endeavor and has typically been reserved for experienced surgeons. This publication aims to be the first high-resolution technique guide to demonstrate a reproducible technique for ASD correction utilizing circumferential minimally invasive surgery (cMIS) without an osteotomy. The Segmental Interbody, Muscle-Preserving, Ligamentotaxis-Enabled Reduction (SIMPLER) technique is a novel ligamentotaxis-based scoliosis surgery that represents a paradigm shift from traditional osteotomies toward patient-specific correction. METHODS: The senior author’s (N.A.) cMIS technique for ASD correction without an osteotomy is described using high-resolution photographs, computer-generated imagery (CGI), and a case example. Step-by-step intraoperative photographs document a novel muscle-preserving posterior spinal exposure, spinal robotic safety protocol for instrumentation, dedicated deformity instrumentation system, rod reduction sequence, and minimally invasive fusion technique. CGI assists to reinforce technical considerations described by intraoperative photographs. RESULTS: The SIMPLER technique is documented from incision to closure with high-resolution pictures including CGI to highlight concepts documented in photographs. Technical considerations were detailed for all aspects involved in the planning and execution of an osteotomy-free deformity correction. CONCLUSION: This represents the first in-depth technical description of ligamentotaxis-based, osteotomy-free, ASD scoliosis correction. The SIMPLER approach is reproducible and minimally invasive and can be done routinely for appropriately selected deformity candidates. This technique serves as a foundation to externally validate previously described cMIS ASD deformity correction outcomes. CLINICAL RELEVANCE: Circumferential minimally invasive spinal deformity correction is reproducible and can be achieved reliably through the use of the SIMPLER technique, without the use of an osteotomy.

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15. Speckert A, Payette K, Knirsch W, von Rhein M, Grehten P, Kottke R, Hagmann C, Natalucci G, Moehrlen U, Mazzone L, Ochsenbein-Kölble N, Padden B, Latal B, Jakab A. Altered Connectome Topology in Newborns at Risk for Cognitive Developmental Delay: A Cross-Etiologic Study. Hum Brain Mapp;2025 (Jan);46(1):e70084.

The human brain connectome is characterized by the duality of highly modular structure and efficient integration, supporting information processing. Newborns with congenital heart disease (CHD), prematurity, or spina bifida aperta (SBA) constitute a population at risk for altered brain development and developmental delay (DD). We hypothesize that, independent of etiology, alterations of connectomic organization reflect neural circuitry impairments in cognitive DD. Our study aim is to address this knowledge gap by using a multi-etiologic neonatal dataset to reveal potential commonalities and distinctions in the structural brain connectome and their associations with DD. We used diffusion tensor imaging of 187 newborns (42 controls, 51 with CHD, 51 with prematurity, and 43 with SBA). Structural weighted connectomes were constructed using constrained spherical deconvolution-based probabilistic tractography and the Edinburgh Neonatal Atlas. Assessment of brain network topology encompassed the analysis of global graph features, network-based statistics, and low-dimensional representation of global and local graph features. The Cognitive Composite Score of the Bayley scales of Infant and Toddler Development 3rd edition was used as outcome measure at corrected 2 years for the preterm born individuals and SBA patients, and at 1 year for the healthy controls and CHD. We detected differences in the connectomic structure of newborns across the four groups after visualizing the connectomes in a two-dimensional space defined by network integration and segregation. Further, analysis of covariance analyses revealed differences in global efficiency (p < 0.0001), modularity (p < 0.0001), mean rich club coefficient (p = 0.017), and small-worldness (p = 0.016) between groups after adjustment for postmenstrual age at scan and gestational age at birth. Moreover, small-worldness was significantly associated with poorer cognitive outcome, specifically in the CHD cohort (r = -0.41, p = 0.005). Our cross-etiologic study identified divergent structural brain connectome profiles linked to deviations from optimal network integration and segregation in newborns at risk for DD. Small-worldness emerges as a key feature, associating with early cognitive outcomes, especially within the CHD cohort, emphasizing small-worldness' crucial role in shaping neurodevelopmental trajectories. Neonatal connectomic alterations associated with DD may serve as a marker identifying newborns at-risk for DD and provide early therapeutic interventions. Trial Registration: ClinicalTrials.gov identifier: NCT00313946.

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16. St Clair M, Massoudi K, Tarbox J, Najdowski A, Simchoni L, Jackson M, Persicke A. Making Deception Fun: Teaching Autistic Individuals How to Play Friendly Tricks. Behav Anal Pract;2024 (Dec);17(4):1134-1146.

Perspective taking is a critical repertoire for navigating social relationships and consists of a variety of complex verbal skills, including socially adaptive forms of deception. Detecting and being able to use socially adaptive deception likely has many practical uses, including defending oneself against bullying, telling white lies to avoid hurting others’ feelings, keeping secrets and bluffing during games, and playing friendly tricks on others. Previous research has documented that some Autistic(1) children have challenges identifying deception and playfully deceiving others (Reinecke et al., 1997). The current study employed a multiple baseline across participants design to evaluate the use of multiple exemplar training, rules, modeling, practice, and feedback for teaching four Autistic children and adolescents to use deception to play friendly tricks on others. The procedure was successful for all participants, and generalization was achieved across novel, untrained tricks.

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17. Tan J, Huang M, Ji X, Liu A, Qiao F, Zhang C, Meng L, Wang Y, Xu Z, Hu P. Long read Nanopore sequencing identifies precise breakpoints of a de novo paracentric inversion that disrupt the MEIS2 gene in a Chinese girl with syndromic developmental delay. BMC Pediatr;2025 (Jan 9);25(1):18.

BACKGROUND: Chromosomal inversions are underappreciated causes of rare diseases given their detection, resolution, and clinical interpretation remain challenging. Heterozygous mutations in the MEIS2 gene cause an autosomal dominant syndrome characterized by intellectual disability, cleft palate, congenital heart defect, and facial dysmorphism at variable severity and penetrance. CASE PRESENTATION: Herein, we report a Chinese girl with intellectual disability, developmental delay, and congenital heart defect, in whom G-banded karyotype analysis identified a de novo paracentric inversion 46,XX, inv(15)(q15q26.1) and other conventional approaches including chromosomal microarray analysis and whole exome sequencing were failed to detect any pathologic variants that can explain the phenotypes of the proband. Subsequently, long-read Nanopore sequencing was directly conducted and defined the breakpoint position of the inversion, disrupting the MEIS2 gene at intron 8. These breakpoints were also confirmed by Sanger sequencing. CONCLUSIONS: In conclusion, we report the first chromosomal inversion disrupting the MEIS2 gene, which was fine-mapped by long read Nanopore sequencing. Our data not only expand the clinical spectrum of MEIS2-caused syndromic developmental delay, but also illustrate the value of long-read sequencing in elucidating the precise genetic etiology of patients with relatively nonspecific clinical findings and chromosomal inversion that are beyond the resolution of conventional approaches.

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18. Tanaka H, Miyamoto K, Hamet Bagnou J, Prigent E, Clavel C, Martin JC, Nakamura S. Analysis of Social Performance and Action Units During Social Skills Training: Focus Group Study of Adults With Autism Spectrum Disorder and Schizophrenia. JMIR Form Res;2025 (Jan 10);9:e59261.

BACKGROUND: Social communication is a crucial factor influencing human social life. Quantifying the degree of difficulty faced in social communication is necessary for understanding developmental and neurological disorders and for creating systems used in automatic symptom screening and assistive methods such as social skills training (SST). SST by a human trainer is a well-established method. Previous SST used a modified roleplay test to evaluate human social communication skills. However, there are no widely accepted evaluation criteria or social behavioral markers to quantify social performance during SST. OBJECTIVE: This paper has 2 objectives. First, we propose applying the Social Performance Rating Scale (SPRS) to SST data to measure social communication skills. We constructed a Japanese version of the SPRS already developed in English and French. Second, we attempt to quantify action units during SST for people with autism spectrum disorder (ASD) or schizophrenia. METHODS: We used videos of interactions between trainers, adults with ASD (n=16) or schizophrenia (n=15), and control participants (n=19) during SST sessions. Two raters applied the proposed scale to annotate the collected data. We investigated the differences between roleplay tasks and participant groups (ASD, schizophrenia, and control). Furthermore, the intensity of action units on the OpenFace toolkit was measured in terms of mean and SD during SST roleplaying. RESULTS: We found significantly greater gaze scores in adults with ASD than in adults with schizophrenia. Differences were also found between the ratings of different tasks in the adults with schizophrenia and the control participants. Action units numbered AU06 and AU12 were significantly deactivated in people with schizophrenia compared with the control group. Moreover, AU02 was significantly activated in people with ASD compared with the other groups. CONCLUSIONS: The results suggest that the SPRS can be a useful tool for assessing social communication skills in different cultures and different pathologies when used with the modified roleplay test. Furthermore, facial expressions could provide effective social and behavioral markers to characterize psychometric properties. Possible future directions include using the SPRS for assessing social behavior during interaction with a digital agent.

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19. Vargas Londono F, Falcomata TS, Lim N, Ramirez-Cristoforo A, Paez Y, Garza A. Do Cultural Adaptations Matter? Comparing Caregiver Training in Different Language for Latino Caregivers of Autistic Children: A Telehealth-Based Evaluation. Behav Anal Pract;2024 (Dec);17(4):1113-1133.

Culturally and linguistically diverse (CLD) families of autistic children face unique challenges in accessing services that are appropriate for their cultures and languages. The purpose of the current study was to evaluate the impact of training language on caregiver skill acquisition. Using behavioral skills training (BST) through telehealth, three Latino caregivers whose first language is Spanish were taught to implement two different behavioral protocols with their autistic children. For one protocol, BST was done in Spanish; for the other, BST was done in English. Overall, the training in each family’s first language was (1) more efficient at promoting the skill acquisition of both caregivers and children; (2) rated by caregivers as more socially valid, and (3) associated with higher levels of caregivers’ indices of personalismo, involvement, and happiness. Findings suggest that cultural adaptations may be necessary to provide more effective and enjoyable training for CLD families.

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20. Wang X, Wu D, Luo T, Fan W, Li J. Impact of interaction between individual genomes and preeclampsia on the severity of autism spectrum disorder symptoms. Zhong Nan Da Xue Xue Bao Yi Xue Ban;2024 (Aug 28);49(8):1187-1199.

OBJECTIVES: Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder. Prior research suggests that genetic susceptibility and environmental exposures, such as maternal preeclampsia (PE) during pregnancy, play key roles in ASD pathogenesis. However, the specific effects of the interaction between genetic and environmental factors on ASD phenotype severity remain unclear. This study aims to investigate how interactions between de novo variants (DNVs) and common variants in individual genomes and PE exposure affect ASD symptom severity by constructing a gene-environment model. METHODS: Phenotypic data were obtained from the Simons Simplex Collection (SSC) database for idiopathic ASD patients aged 4-18. Subjects were divided based on maternal PE status: PE(+) (exposed) and PE(-) (unexposed) groups. Those without DNVs were divided into DNV(-)PE(+) and DNV(-)PE(-) groups, and those with DNVs into DNV(+)PE(+) and DNV(+)PE(-) groups. Based on polygenic risk scores (PRS), subjects below the median were classified into PRS(low)PE(+) and PRS(low)PE(-) groups, and those at or above the median into PRS(high)PE(+) and PRS(high)PE(-) groups. Core ASD phenotypic assessed included adaptive and cognitive abilities, social reciprocity, language and communication skills, and repetitive behaviors. Adaptive and cognitive abilities were scored using adaptive behavior composite scores from the Vineland Adaptive Behavior Scales, Second Edition (VABS-II), along with verbal intelligence quotient (VIQ) and nonverbal intelligence quotient (NVIQ) scores from the SSC database. Social reciprocity abilities were measured using the social domain scores from the Autism Diagnostic Interview-Revised (ADI-R SD), social affective domain scores from the Autism Diagnostic Observation Schedule (ADOS SA), and normalized scores from the Social Responsiveness Scale (SRS). Language and communication abilities were assessed through verbal communication domain (ADI-R VC), nonverbal communication domain (ADI-R NVC) scores from ADI-R, and the communication and social domain scores from ADOS (ADOS CS). Repetitive behaviors were measured using the restricted and repetitive behaviors domain scores from ADI-R (ADI-R RRB), the repetitive domain scores from ADOS (ADOS REP), and the overall scores from the Repetitive Behavior Scale-Revised (RBS-R). Linear regression models were constructed to explore the impact of PE exposure and its interaction with individual genomes (including DNVs and common variants) on core ASD phenotypes. Additionally, ASD candidate genes associated with DNVs underwent gene ontology (GO) enrichment analysis via Metascape, and temporal and spatial gene expression patterns were examined using RNA sequencing (RNA-seq) data from the BrainSpan database. RESULTS: A total of 2 439 ASD patients with recorded DNV information and confirmed PE exposure status were included, with 146 in the PE(+) group and 2 293 in the PE(-) group. There was a trend toward differences between these two groups in SRS (β=2.01, P=0.08) and ADI-R NVC (β=-0.62, P=0.09). Among the 2 439 participants, there were 1 454 in the DNV(-)PE(-) group, 90 in the DNV(-)PE(+) group, 839 in the DNV(+)PE(-) group, and 56 in the DNV(+)PE(+) group. Analysis of the main effect of PE exposure showed significant impacts on SRS (β=3.71, P=0.01) and RBS-R (β=4.54, P=0.05). Interaction analysis between DNVs and PE exposure revealed a trend toward significance in SRS (β=-4.17, P=0.06). In the 2 236 participants with available PRS data, there were 1 033 in the PRS(low)PE(-) group, 72 in the PRS(low)PE(+) group, 1 069 in the PRS(high)PE(-) group, and 62 in the PRS(high)PE(+) group. Analysis of the main effect of PE exposure showed significant impacts on SRS (β=4.32, P<0.001) and RBS-R (β=5.87, P=0.02). The interaction between PRS and PE exposure showed significant effects on SRS (β=-4.90, P=0.03) and ADI-R NVC (β=-1.43, P=0.04), with trends in NVIQ (β=9.61, P=0.08) and RBS-R (β=-6.20, P=0.08). Additionally, DNV-enriched genes in PE-exposed patients were associated with regulatory of epithelial-to-mesenchymal transition and DNA-binding transcription factor activity. Temporal and spatial expression pattern analysis indicated that genes enriched in these regulatory processes showed higher expression levels prenatally compared to postnatally. CONCLUSIONS: PE exposure, an environmental factor influencing ASD, is associated with increased ASD symptom severity. The interaction of PE exposure with genetic factors is crucial in modulating ASD phenotypes. Among PE-exposed individuals, ASD patients with high genetic risk for common variants may show improvements in social reciprocity and communication skills. In contrast, while DNVs may also aid in symptom improvement, their impact is less pronounced than that of common variants. These differences suggest that under similar PE exposure conditions, ASD patients with DNVs or high-risk common variants may exhibit varying degrees of symptom changes. ASD pathology research should consider the combined influence of genetic and environmental factors. OBJECTIVE: Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder. Prior research suggests that genetic susceptibility and environmental exposures, such as maternal preeclampsia (PE) during pregnancy, play key roles in ASD pathogenesis. However, the specific effects of the interaction between genetic and environmental factors on ASD phenotype severity remain unclear. This study aims to investigate how interactions between de novo variants (DNVs) and common variants in individual genomes and PE exposure affect ASD symptom severity by constructing a gene-environment model. METHODS: Phenotypic data were obtained from the Simons Simplex Collection (SSC) database for idiopathic ASD patients aged 4-18. Subjects were divided based on maternal PE status: PE(+) (exposed) and PE(-) (unexposed) groups. Those without DNVs were divided into DNV(-)PE(+) and DNV(-)PE(-) groups, and those with DNVs into DNV(+)PE(+) and DNV(+)PE(-) groups. Based on polygenic risk scores (PRS), subjects below the median were classified into PRS(low)PE(+) and PRS(low)PE(-) groups, and those at or above the median into PRS(high)PE(+) and PRS(high)PE(-) groups. Core ASD phenotypic assessed included adaptive and cognitive abilities, social reciprocity, language and communication skills, and repetitive behaviors. Adaptive and cognitive abilities were scored using adaptive behavior composite scores from the Vineland Adaptive Behavior Scales, Second Edition (VABS-II), along with verbal intelligence quotient (VIQ) and nonverbal intelligence quotient (NVIQ) scores from the SSC database. Social reciprocity abilities were measured using the social domain scores from the Autism Diagnostic Interview-Revised (ADI-R SD), social affective domain scores from the Autism Diagnostic Observation Schedule (ADOS SA), and normalized scores from the Social Responsiveness Scale (SRS). Language and communication abilities were assessed through verbal communication domain (ADI-R VC), nonverbal communication domain (ADI-R NVC) scores from ADI-R, and the communication and social domain scores from ADOS (ADOS CS). Repetitive behaviors were measured using the restricted and repetitive behaviors domain scores from ADI-R (ADI-R RRB), the repetitive domain scores from ADOS (ADOS REP), and the overall scores from the Repetitive Behavior Scale-Revised (RBS-R). Linear regression models were constructed to explore the impact of PE exposure and its interaction with individual genomes (including DNVs and common variants) on core ASD phenotypes. Additionally, ASD candidate genes associated with DNVs underwent gene ontology (GO) enrichment analysis via Metascape, and temporal and spatial gene expression patterns were examined using RNA sequencing (RNA-seq) data from the BrainSpan database. RESULTS: A total of 2 439 ASD patients with recorded DNV information and confirmed PE exposure status were included, with 146 in the PE(+) group and 2 293 in the PE(-) group. There was a trend toward differences between these two groups in SRS (β=2.01, P=0.08) and ADI-R NVC (β=-0.62, P=0.09). Among the 2 439 participants, there were 1 454 in the DNV(-)PE(-) group, 90 in the DNV(-)PE(+) group, 839 in the DNV(+)PE(-) group, and 56 in the DNV(+)PE(+) group. Analysis of the main effect of PE exposure showed significant impacts on SRS (β=3.71, P=0.01) and RBS-R (β=4.54, P=0.05). Interaction analysis between DNVs and PE exposure revealed a trend toward significance in SRS (β=-4.17, P=0.06). In the 2 236 participants with available PRS data, there were 1 033 in the PRS(low)PE(-) group, 72 in the PRS(low)PE(+) group, 1 069 in the PRS(high)PE(-) group, and 62 in the PRS(high)PE(+) group. Analysis of the main effect of PE exposure showed significant impacts on SRS (β=4.32, P<0.001) and RBS-R (β=5.87, P=0.02). The interaction between PRS and PE exposure showed significant effects on SRS (β=-4.90, P=0.03) and ADI-R NVC (β=-1.43, P=0.04), with trends in NVIQ (β=9.61, P=0.08) and RBS-R (β=-6.20, P=0.08). Additionally, DNV-enriched genes in PE-exposed patients were associated with regulatory of epithelial-to-mesenchymal transition and DNA-binding transcription factor activity. Temporal and spatial expression pattern analysis indicated that genes enriched in these regulatory processes showed higher expression levels prenatally compared to postnatally. CONCLUSION: PE exposure, an environmental factor influencing ASD, is associated with increased ASD symptom severity. The interaction of PE exposure with genetic factors is crucial in modulating ASD phenotypes. Among PE-exposed individuals, ASD patients with high genetic risk for common variants may show improvements in social reciprocity and communication skills. In contrast, while DNVs may also aid in symptom improvement, their impact is less pronounced than that of common variants. These differences suggest that under similar PE exposure conditions, ASD patients with DNVs or high-risk common variants may exhibit varying degrees of symptom changes. ASD pathology research should consider the combined influence of genetic and environmental factors. eng

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21. Xiao HL, Zhu H, Zeng TA, Xu F, Yu SH, Yang CJ. Potential similarities in gut microbiota composition between autism spectrum disorder and neurotypical siblings: Insights from a comprehensive meta-analysis. Neuroscience;2025 (Jan 7);567:172-181.

BACKGROUND: Previous studies have explored the differences in gut microbiota (GM) between individuals with autism spectrum disorder (ASD) and neurotypical controls. However, factors such as diet, lifestyle, and environmental exposure influence GM, leading to significant variability, even among neurotypical individuals. Comparing the GM of ASD individuals with neurotypical siblings, who share similar genes and living conditions, may offer better insights into the GM mechanisms associated with ASD. Therefore, this study aims to analyze the GM composition in ASD by comparing it to that of neurotypical siblings, potentially identifying microbiota that influence ASD. METHODS: We explored electronic databases up to July 2024, including EBSCOhost, PubMed, ScienceDirect, Web of Science, and Scopus. Meta-analysis using RevMan 5.4 assessed the relative abundance (RA) of gut bacteria from 8 phyla and 4 genera in ASD individuals and neurotypical siblings. RESULTS: Eight studies were included, involving 248 people with ASD and 197 neurotypical siblings. Significant but unstable differences were observed in the RA of Bacteroidetes, Firmicutes, and Fusobacteria. No significant differences were found in the RA of Proteobacteria, Cyanobacteria, Actinobacteria, Verrucomicrobia, Tenericutes, or Bacteroides, Roseburia, Sutterella, Bifidobacterium. CONCLUSIONS: GM composition in ASD individuals closely resembles that of neurotypical siblings, with only a few unstable differences. This suggests that other crucial bacteria or certain interacting environmental factors play a role. Further studies are needed to gather stronger evidence to uncover the differences in GM and their mechanisms in ASD people.

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22. Xiao J, Ming Y, Li L, Huang X, Zhou Y, Ou J, Kou J, Feng R, Ma R, Zheng Q, Shan X, Meng Y, Liao W, Zhang Y, Wang T, Kuang Y, Cao J, Li S, Lai H, Chen J, Wang Q, Dong X, Kang X, Chen H, Menon V, Duan X. Personalized theta-burst stimulation enhances social skills in young minimally verbal children with autism: a double-blind randomized controlled trial. Biol Psychiatry;2025 (Jan 10)

BACKGROUND: Minimally verbal children with autism are understudied and lack effective treatment options. Personalized continuous theta-burst stimulation (cTBS) targeting the amygdala and its circuitry may be a potential therapeutic approach for this population. METHODS: In a double-blind randomized controlled trial, minimally verbal children with autism (ages 2-8 years) received 4 weeks of cTBS. An amygdala-optimized functional connectivity (AOFC) group (N=23) received personalized stimulation targeting a left dorsolateral prefrontal cortex site functionally connected with the amygdala. A non-optimized (NO) control group (N=21) received stimulation at a standard prefrontal site. We assessed changes in Autism Diagnostic Observation Schedule scores, amygdala volume, spontaneous neural activity, and functional connectivity. RESULTS: Personalized AOFC-guided cTBS improved social and communication skills with an effect size twice that of the NO group (Cohen’s d = 0.55 vs. 0.24). The AOFC group showed greater reductions in amygdala volume, spontaneous neural activity, and hyper-connectivity. Network-level amygdala connectivity changes with default mode, frontoparietal, and dorsal attention networks were correlated with clinical improvements. Field mapping analysis revealed that greater electric field overlap between standard and optimized targets predicted better treatment outcomes. CONCLUSIONS: Personalized AOFC-guided cTBS enhanced social skills and communication in minimally verbal children with autism by modulating amygdala structure and connectivity. Changes in amygdala network connectivity predicted clinical improvements, suggesting a mechanistic link between neural circuit plasticity and behavioral outcomes. These findings demonstrate the potential of precision-targeted neuromodulation in addressing a critical gap in autism treatment for this understudied population.

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