Pubmed (TSA) du 12/01/26
1. Ayaz E, Özcan GH, Şahin M, Özer D. Effects of physical activity program on psychomotor and psycho-social characteristics of autistic children. Sci Rep;2026 (Jan 12)
The aim of this study was to examine the effect of Physical Activity Program (PAP) on psychomotor and psychosocial characteristics of autistic children. In this study, a mixed-methods sequential exploratory design consisting of two stages, quantitative and qualitative, was used. The research group consisted of a total of 40 participants (girls n = 20, boys n = 20), aged between 8 and 12 years, with 20 in the control group (CG) and 20 in the experimental group (EG). EG participated in the PAP for 60 min a day, 3 days a week for 10 weeks. Gilliam Autistic Disorder Rating Scale-2 (GARS-2), Bruininks-Oseretsky motor competence test-2 short form (BOT-2 SF), Eurofit Test Battery, Pediatric Quality of Life Form and Social Skills Rating System Parent Form were used in the study. Mann Whitney U test was used for two-group comparisons of parameters that did not show normal distribution, and Wilcoxon signed-rank test was used to examine the changes between pretest and posttest measurements. Significance was evaluated at p < 0.05 level. The thematic analysis method was used for the focus group interview, one of the qualitative research methods.After PAP, a statistically significant difference was found in favor of EG in all subtests of GARS-2 and in total standard scores (p < 0.05). The increase in all subtests and total scores of the BOT-2 was higher in favor of the EG (p < 0.05), and an increase in performance in all subtests of the Eurofit test battery was detected (p < 0.05). The positive effects of PAP on social skills and quality of life were supported by qualitative findings, but quantitative findings did not reveal a significant change (p > 0.05). Effect size analyses showed that the program produced moderate effects on autistic symptoms (r = 0.3-0.5), very large effects on motor skills (r = 0.8-1.5), and large effects on physical fitness variables (r = 0.6-0.9). 10 weeks of PAP applied to autistic children seems to be sufficient to provide positive effects on motor skills, physical fitness and autistic disorder index, but longer programs are needed for more striking effects on quality of life and social skills.
Lien vers le texte intégral (Open Access ou abonnement)
2. Bai L, Hei Y, Tian R, Zhang H, Xin H, Yang Y, Ge L, Lv Y, Mu X, Gai Z, Liu G, Gao L, Zhang K. Detection of pathogenic novel intronic splicing variants in the KIDINS220 gene causes motor developmental delay. Artif Cells Nanomed Biotechnol;2026 (Dec);54(1):74-84.
Pathogenic variants in the KIDINS220 gene can cause SINO syndrome (OMIM #617296), VENARG syndrome (OMIM #619501), or other neurological and metabolic disorders such as obesity and nystagmus. We identified two novel intronic variants in intron 29 of KIDINS220 gene (NM_020738.4), c.4054-2A > G and c.4054-7T > C, in a female patient presenting with motor dysfunction and developmental delay. Brain MRI revealed delayed myelination. To investigate whether these intronic variants cause aberrant splicing and affect protein expression, we sequenced KIDINS220 cDNA from peripheral blood and concurrently performed a minigene splicing assay. The results indicated that KIDINS220 was not expressed in PBMCs. However, the minigene assay demonstrated that the c.4054-2A > G variant causes an in-frame 336-bp deletion in exon 30, resulting in a 112-amino acid deletion in the C-terminal region of KIDINS220 (p.(Ser1352_Ser1463del)). In contrast, the c.4054-7T > C variant did not disrupt normal splicing. Based on the patient’s clinical features and functional validation of the genetic variants, our paediatricians established a diagnosis of mild motor dysfunction and developmental delay. Our findings broaden the spectrum of pathogenic variants underlying KIDINS220-related disorders and provide essential information for genetic counselling.
Lien vers le texte intégral (Open Access ou abonnement)
3. Gutowski C, Lombard M, Kurtz-Nelson E, Christensen C. Whole exome sequencing facilitates early neurodevelopmental diagnosis in an outpatient clinic. BMJ Case Rep;2026 (Jan 12);19(1)
The American College of Medical Genetics and Genomics (ACMG) and other professional organisations recommend whole exome sequencing (WES) as a first-tier genetic test for paediatric patients with congenital anomalies, developmental delay and/or intellectual disability, which has contributed to rapidly increasing rates of genetic testing and diagnosis in this population. We present a case of Rett syndrome diagnosed in early childhood following an atypical presentation of the condition with no regression using WES. This diagnosis was facilitated by a multidisciplinary outpatient neurodevelopmental genetics programme. Non-genetics providers trained in consent for genetic testing allowed for ample access to a comprehensive genetics work-up. The subsequent diagnosis of Rett syndrome qualified this patient for additional resources, novel interventions and family support.
Lien vers le texte intégral (Open Access ou abonnement)
4. Hayden EM, Walker MF. A Case of Fragile-X Associated Tremor/Ataxia Syndrome Presenting with Hemichorea and Strabismus. Mov Disord Clin Pract;2026 (Jan 11)
Lien vers le texte intégral (Open Access ou abonnement)
5. Hustyi KM, Yingling ME. Variation in Behavior Analysts’ Treatment Intensity Recommendations for Patients with Autism Spectrum Disorder. Behav Anal Pract;2025 (Dec);18(4):958-970.
Most outcome research on Applied Behavior Analysis (ABA) treatment suggests that high intensity yields the best outcomes for patients with autism spectrum disorder (ASD). However, little is known about what impacts the determinations behavior analysts make regarding individualized treatment intensity recommendations. We conducted a cross-sectional survey of behavior analysts with experience developing and overseeing behavior analytic treatment for individuals with ASD (N = 559). We asked participants to report how 36 patient, familial, and logistical factors impact their treatment intensity recommendations using a 7-point Likert scale (ranging from significantly decrease to significantly increase recommended treatment intensity). Results indicated variation in the factors that impact recommendations as well as the direction of impact, with the greatest agreement that patient diagnosis and skills deficits lead to increased treatment intensity recommendations. Although the data reveal patterns and areas of seemingly greater consensus, the significant variability in clinicians’ approaches to individualizing treatment intensity recommendations indicates a need for future research on training and standards for clinicians to ensure appropriate treatment intensity recommendations are provided to all patients receiving ABA treatment.
Lien vers le texte intégral (Open Access ou abonnement)
6. Jaswal VK, Prizant BM, Barense MD, Patten K, Stobbe G. Why We Need to Study Assisted Methods to Teach Typing to Nonspeaking Autistic People. Autism Res;2026 (Jan 12)
At least one third of autistic people have limited or no speech. Most nonspeaking autistic people are never provided alternatives that would enable the full range of expression that speech allows, significantly limiting their access to educational, social, and employment opportunities. In this commentary, we argue that assisted methods to teach nonspeaking autistic people to type-long dismissed because the assistant could influence the text they produce during training-warrant fresh study. Although these teaching methods developed in practice rather than research, the practice (including the range of support the assistant provides in the motor, sensory, and attentional domains) is aligned with contemporary research about nonspeaking autistic people’s strengths and challenges. We suggest that past research showing that influence can occur during training has been over-interpreted to mean that influence always occurs and that nonspeaking autistic people instructed using assisted methods never learn to type independently. In fact, other research shows that influence does not always occur, and there are independent typers who attribute their skill to the range of assistance they received during training. We believe it is time to revisit assisted methods to teach typing in order to understand their potential, as well as their limits, including how successful learners became independent and for whom these methods would be a good match. These efforts have the potential to result in greater access to effective communication and better quality of life for more nonspeaking autistic people.
Lien vers le texte intégral (Open Access ou abonnement)
7. Jeon H, Hur A, Lee H, Chung S, Son JW. An Exploratory Pilot Study of Brain Functional Connectivity and Heart Rate Variability in Male Children With Autism Spectrum Disorder. J Korean Acad Child Adolesc Psychiatry;2026 (Jan 1);37(1):70-80.
OBJECTIVES: The brain and autonomic nervous system are tightly interconnected and may be involved in various psychiatric conditions. We explored whether electroencephalographic (EEG) coherence and vagally mediated heart rate variability (vmHRV) differ between male children with autism spectrum disorder (ASD) and typically developing (TD) children, and how these measures are associated with the clinical characteristics of ASD. METHODS: We recorded resting-state EEG and vmHRV in 14 male children with ASD and 14 TD children. The Social Responsiveness Scale (SRS) was used to assess the clinical characteristics of the ASD group. RESULTS: vmHRV measures (root mean square of successive RR intervals [RMSSD], percentage of successive RR intervals that differ by more than 50 ms [pNN50], and high-frequnecy power) did not differ between the ASD and TD groups. By contrast, the beta1 coherence between the T5 and T6 electrodes (beta1 coherence [T5-T6]) was lower in the ASD group than in the TD group, even after correction for multiple comparisons. This coherence measure demonstrated a positive correlation with RMSSD and a negative correlation with the SRS social motivation subscale score (SRS-Motivation). Moreover, pNN50 acted as a moderator of the association between beta1 coherence (T5-T6) and SRS-Motivation. CONCLUSION: Resting-state EEG coherence may be associated with the clinical characteristics of ASD, and vmHRV may exert a moderating effect on this relationship. These preliminary findings suggest that the concurrent evaluation of brain and autonomic functions can be useful for elucidating the pathophysiology of ASD.
Lien vers le texte intégral (Open Access ou abonnement)
8. Kandeğer A, Allison C, Çelik ME, Söylemez H, Bayırlı Ö, Selvi Y, Baron-Cohen S. Examining Social Barriers in Adults With ADHD: The Role of Autistic Traits, Empathy, Theory of Mind in Social Anxiety and Avoidance. Acta Psychiatr Scand;2026 (Jan 11)
INTRODUCTION: This case-control study examined social barriers in adults with ADHD compared to non-neurodivergent adults, focusing on autistic traits, cognitive/affective empathy, theory of mind (ToM), and social anxiety/avoidance. METHODS: A total of 142 adults with ADHD and 104 non-neurodivergent groups were assessed using the following self-report measures: the Adult ADHD Self-Report Scale, the Hospital Anxiety Depression Scale, the Autism Spectrum Quotient, the Empathy Quotient, and the Liebowitz Social Anxiety Scale. ToM was evaluated using the Reading the Mind in the Eyes Test. Additionally, psychiatric interviews were conducted, incorporating diagnostic evaluation via the Structured Clinical Interview for DSM-5 Disorders-Clinician Version, along with collection of sociodemographic and clinical data, and documentation of real-life narratives of social struggles to contextualize and deepen the interpretation of the quantitative findings. RESULTS: Adults with ADHD exhibited significantly higher levels of autistic traits and social anxiety/avoidance, along with lower cognitive and affective empathy scores, compared to controls, while ToM abilities did not differ significantly between groups. Moreover, regression analyses indicated that challenges in social skills and communication, low cognitive empathy, heightened affective empathy, and difficulties in attention switching accounted for variance in social anxiety/avoidance, independent of confounding sociodemographic and clinical factors, including the presence of co-occurring psychiatric conditions and the severity of ADHD, depression, and anxiety symptoms. CONCLUSION: While adults with ADHD exhibit intact basic ToM abilities, challenges in social-cognitive processes are associated with their social barriers. Targeted interventions such as social skills training, executive function coaching, and anxiety management may improve social outcomes and quality of life, as also highlighted by the real-life narratives-although further longitudinal, multi-method research is warranted.
Lien vers le texte intégral (Open Access ou abonnement)
9. Kennedy BS, Weir E, Fysh MC, Tsompanidis A, Payne RA, Allison C, Matthews FE, Baron-Cohen S. Risk of hospitalization and death among autistic young people in England during the Covid-19 pandemic. Mol Autism;2026 (Jan 12)
Lien vers le texte intégral (Open Access ou abonnement)
10. Lamônica D, Rosa KG, da Rocha E, Lemos D, Giacheti CM. Diagnostic challenges in Landau-Kleffner syndrome. BMJ Case Rep;2026 (Jan 12);19(1)
A boy in his early childhood was brought by his parents to the Laboratory of Investigation of Neurological and Genetic Disorders of the School Clinic of the University with a suspicion of Autism Spectrum Disorder (ASD) and hearing loss. The parents’ complaint was that their child had language regression, did not respond to auditory stimuli and was presenting ASD behaviours. The parents were searching for information and a possible diagnosis and treatment for their child. Considering the child’s history, an electroencephalogram (EEG) and a CT exam, as well as audiological and language assessments, were requested. The audiological assessment indicated normality. As for the language assessment, auditory agnosia and expressive deficits, language fluctuation, restricted sound production and sporadic word use, many of which were unintelligible, were verified. Regarding neurodevelopment, all areas were compromised and symptoms included irritability, motor excitation and impulsivity. There was no score for signs of ASD, although some behaviours could be observed. The child was diagnosed with Landau-Kleffner syndrome (LKS), a rare paediatric neurological disorder characterised by language regression and abnormal EEG activity. Although LKS is a rare condition, there is a need for greater awareness of this syndrome, particularly in light of language regression and suspicion of Acquired Hearing Loss.
Lien vers le texte intégral (Open Access ou abonnement)
11. Madia D, Sheikh M, Pethe A, Telange D, Agrawal S. Excitatory/Inhibitory balance in autism spectrum disorders: Integrating genetic, neurotransmitter and computational perspectives. AIMS Neurosci;2025;12(4):635-675.
Computational modeling of excitatory/inhibitory (E/I) balance offers transformative insights into the neurobiological underpinnings of autism spectrum disorder (ASD). In this review, we examined the integration of neurotransmitter dynamics and genetic factors into multiscale computational frameworks to elucidate the mechanisms driving E/I dysregulation in ASD. We explored the pivotal roles of glutamate and GABA, the primary excitatory and inhibitory neurotransmitters, and the modulatory impact of serotonin and dopamine (DA), in shaping neural circuit stability, behavioral outcomes, and ASD core symptoms. Genetic mutations affecting synaptic proteins such as SHANK3, GRIN2A, and GABRB3 were highlighted for their capacity to disturb synaptic scaffolding and glutamatergic and GABAergic signaling, thereby shifting the E/I ratio. Computational approaches, ranging from detailed neuronal simulations to neural mass and spiking network models, captured the heterogeneous manifestations of E/I imbalance and aligned with molecular, neuroimaging, and electrophysiological findings in ASD. We discussed how these models informed individualized diagnostic strategies, enabled prediction of treatment responses, and offered targets for precision medicine. Major challenges included methodological inconsistencies, neurochemical measurement discrepancies, polygenic interactions, and the translation of model predictions into clinical practice. We concluded that the integration of neurotransmitter and genetic data within advanced computational models represents a significant advance toward unraveling ASD pathophysiology, with the promise of developing dynamic, personalized interventions. Ongoing efforts should emphasize longitudinal data, multiomic integration, sex-specific trajectories, and cross-disciplinary collaboration to further the clinical applicability and translational potential of computational E/I balance modeling in autism research.
Lien vers le texte intégral (Open Access ou abonnement)
12. Martinez JL, Hajal NJ, Fisher KL, Turner EC, Moody CT, Laugeson EA. Parent Employment Status and Race/Ethnicity as Predictors of Social Skills Outcomes in Autistic Children in PEERS(®) for Preschoolers. J Korean Acad Child Adolesc Psychiatry;2026 (Jan 1);37(1):14-21.
OBJECTIVES: PEERS(®) for Preschoolers (P4P) is an evidence-based, parent-assisted social skills program for young autistic children and children with other social challenges. The program aims to promote age-appropriate social skills and improve peer relationships. Parent employment status and cultural background may influence families’ engagement in the program and their relationship with providers, which can affect use of P4P skills outside weekly sessions. This study examined whether these parent demographic characteristics predicted program response in P4P. METHODS: Participants were 46 autistic children (mean age=4.50 years; 78.3% male) and their caregivers who completed P4P between 2015 and 2019. Families took part in a 16-week curriculum with parallel child and parent groups. Program outcomes were measured using parent-report instruments, including the Social Responsiveness Scale-Second Edition, Social Skills Improvement System subscales of Social Skills and Problem Behaviors, Quality of Play Questionnaire, and Parenting Stress Index, Fourth Edition, Short-Form. RESULTS: Significant improvements were found in child social responsiveness, social skills, behavior problems, number of playdates, and parenting stress from pre- to post-P4P. Parent employment status and race/ethnicity did not significantly predict any program outcomes. CONCLUSION: Results indicate that P4P benefits families broadly, with no observed effect of parent employment status or race/ethnicity on outcomes. Future research should replicate these findings in a larger, more diverse sample and examine additional potential predictors of program response to inform clinical decision-making.
Lien vers le texte intégral (Open Access ou abonnement)
13. Nakamura T, Koshio I, Maruyama S, Ikeda K, Nagayama H, Sasada S. Reliability, Responsiveness, and Interpretability of the Participation Questionnaire for Preschoolers with Autism Spectrum Disorder. Phys Occup Ther Pediatr;2026 (Jan 12):1-20.
AIMS: This cohort study aimed to evaluate the test-retest reliability, responsiveness, and interpretability of the Participation Questionnaire for Preschoolers (PQP), a tool for assessing participation in preschool children with autism spectrum disorder (ASD). METHODS: Caregivers of children with ASD aged 51-75 months completed online surveys at four time points over six months. Test-retest reliability was examined using intraclass correlation coefficients (ICCs) for 275 participants. Responsiveness was examined by analyzing correlations between changes in PQP scores and the Strengths and Difficulties Questionnaire and the Family Outcomes Survey based on four predefined hypotheses. To assess interpretability, the Global Rating of Change (GRC) Scale was used as an anchor to analyze receiver operating characteristic curves and estimate minimal important change (MIC). RESULTS: ICCs ranged from 0.80 to 0.92 for individual subscales and reached 0.93 for the total score. Three of four hypotheses for responsiveness were supported. However, the correlation between the GRC Scale and changes in PQP scores was below 0.3, preventing MIC calculation. CONCLUSION: Although the MIC could not be calculated, the PQP’s strong test-retest reliability and responsiveness provide a foundation for future research.
Lien vers le texte intégral (Open Access ou abonnement)
14. Nguyen VT, Tran TT, Nguyen MP, Tran TK, Nguyen GL, Le TTH, Nguyen TL, Nguyen TH, Nguyen HY, Vu ST. Correlation between demographic factors and Autism Spectrum Disorder intervention outcomes in southern Vietnam. Clin Ter;2025 (Jan-Feb);177(1):23-30.
PURPOSE: This study examines how demographic factors such as parental age, education, occupation, intervention training, family income, and psychotropic drug use impact Autism Spectrum Disorder (ASD) intervention outcomes in southern Vietnam. Identifying significant demographic influences can help clinicians personalize treatment plans, potentially improving the effectiveness of interventions for ASD. APPROACH: Sixty-three children with ASD were analyzed using DSM-5 criteria. Intervention outcomes were measured through the Childhood Autism Rating Scale (CARS), Autism Treatment Evaluation Checklist (ATEC), Vineland Adaptive Behavior Scales-II (VABS-II), and Communication Matrix (CM). Statistical analyses used the General Linear Model to assess associations between demographic factors and intervention effectiveness. FINDINGS: Results show that specific factors, particularly paternal age, occupation, family income, and psychotropic drug usage, correlate significantly with certain intervention outcomes. Notably, psychotropic drugs positively affected communication, while other variables like paternal age and income impacted adaptive behaviors. ORIGINALITY/VALUE: This study emphasizes the value of demographic-informed, tailored intervention approaches for ASD. These findings highlight how specific demographic factors can serve as predictors of treatment response, providing insights for developing more personalized ASD intervention strategies.
Lien vers le texte intégral (Open Access ou abonnement)
15. Noman AA, Saba AA, Adiba M, Rahman M, Sayem M, Nabi A, Yasmin T. Screening of CGG Trinucleotide Repeats Within FMR1 Gene in Bangladeshi Children With Autism Spectrum Disorder: Exploring a Possible Link With Fragile X Syndrome. J Korean Acad Child Adolesc Psychiatry;2026 (Jan 1);37(1):63-69.
OBJECTIVES: Autism spectrum disorder (ASD) is a major neurodevelopmental disorder characterized by persistent deficits in social communication along with restricted, repetitive patterns of behaviour and interests. FMR1 gene, which causes Fragile X syndrome (FXS), is the most common single-gene contributor to ASD. Variations in CGG repeat length within the 5′ untranslated region of FMR1 are central to the etiology of FXS. Given the established connection between FXS and ASD, this study investigated whether the trinucleotide repeat region of FMR1 is associated with ASD in Bangladeshi children. METHODS: Seventy-one children participated in the study, including 39 with ASD and 32 age-matched controls. The FMR1 region was amplified using polymerase chain reaction and subsequently sequenced. RESULTS: There was no statistically significant difference in the number of CGG repeats between patients with ASD and controls (p>0.01), with the most common repeat number being 27 in both groups. Interspersion of the two AGG trinucleotides among the CGG repeats was the most common pattern found in the study participants, with frequencies of 56.67% and 50.00% in the ASD and the control groups, respectively. CONCLUSION: This study provides preliminary evidence that CGG repeat expansion in the FMR1 gene is unlikely to represent a major genetic contributor to ASD in Bangladeshi children. However, given the limited sample size, further investigations with a larger cohort are required to confirm these findings.
Lien vers le texte intégral (Open Access ou abonnement)
16. Pagán AF, Loveland KA, Acierno R. Therapeutic Alliance in a Culturally Tailored Transition Program for Latino Young Adults with Autism and Their Families. Int J Syst Ther;2025;36(4):455-474.
Latino young adults with autism spectrum disorder (ASD) often face barriers to accessing culturally appropriate interventions that support adaptive functioning and family dynamics. Therapeutic alliance, the collaborative and trusting relationship between participants and providers, is a critical component of intervention success, yet its role in culturally tailored programs for Latino families remains underexplored. The present study examined therapeutic alliance in ¡Iniciando! la Adultez, a 12-week, culturally adapted intervention for Latino young adults with ASD and their Spanish-speaking parents. The program integrates Latino cultural values and language and consists of parent group therapy, young adult group therapy, and individual therapy sessions. Participants included 26 young adults and 38 parents who engaged in the intervention. Repeated measures analyses of variance (ANOVA) were conducted to examine changes in therapeutic alliance and adaptive functioning across three time points: baseline, mid-treatment, and post-treatment. Correlational analyses explored associations between mid-treatment alliance and post-treatment adaptive functioning. Results indicated that parents, young adults, and therapists reported strong therapeutic alliances, which were significantly associated with improvements in adaptive functioning, particularly in social and conceptual skills. These findings underscore the importance of fostering therapeutic alliance in culturally responsive interventions to support meaningful outcomes for Latino young adults with ASD and their families.
Lien vers le texte intégral (Open Access ou abonnement)
17. Perzolli S, Bertamini G, Venuti P, Bentenuto A. Father-child interactions in autism: A multivariate analysis of behavioral patterns in Italian dyads. Res Dev Disabil;2026 (Jan 12);169:105196.
Although research on fathers in the context of autism has increased in recent years, the behavioral dimensions of paternal involvement, and how these behaviors relate to child characteristics, remain insufficiently understood. This study examined how multiple aspects of fathers’ interactive behavior, including affective quality, play, and language, co-occur and relate to children’s behaviors in a sample of autistic preschoolers. Participants were 43 Italian fathers and their 43 autistic children (M chronological age = 40.74 months, SD = 11.51; M mental age = 29.28 months, SD = 12.31). Fathers’ interactive behaviors were assessed using observational and standardized measures of affect (Emotional Availability Scales, EAS), play (Play Code), and language (Penman Code). Canonical Correlation Analysis (CCA) identified two distinct patterns of paternal behavior. The first reflected high sensitivity and structuring, suggesting an attuned and supportive interactive style. The second pattern was characterized by reduced verbalization combined with low intrusiveness, indicating a relational, child-centered approach. Father-child play behaviors were strongly aligned, highlighting mutual attunement during shared play. Moreover, higher paternal sensitivity was associated with greater child involvement and responsiveness. Overall, findings suggest that fathers exhibit flexible configurations of behavior that may be linked to their children’s characteristics. These results underscore the importance of multivariate approaches for capturing the complexity of father-child interactions in autism and highlight the need for personalized, father-inclusive strategies in developmental assessment and intervention.
Lien vers le texte intégral (Open Access ou abonnement)
18. Rancaño KM, Kranz AM. Pediatric dental surgeries in children with intellectual disabilities and autism paid by means of Medicaid. J Am Dent Assoc;2026 (Jan 12)
BACKGROUND: Use of ambulatory surgery centers (ASCs) relative to hospital outpatient departments (HOPDs) for outpatient surgeries for caries in children with intellectual disabilities and related conditions (IDRC) and autism has not been characterized. METHODS: In this cross-sectional analysis of Medicaid data (2016-2020) from 40 states, the authors examined 601,286 outpatient dental surgeries performed in ASCs and HOPDs in children (1-18 years) with IDRC, with autism, and without IDRC or autism (IDRC/A), overall and according to race and ethnicity. Multivariable regression models estimated regression-adjusted probabilities of receiving care in ASCs. Models included year and state fixed effects and child-level clustered SEs. RESULTS: Among surgeries in ASCs and HOPDs, the regression-adjusted predicted probability of ASC use was 14.0 percentage points lower for children with IDRC (15.9%; P < .001) and 3.8 percentage points lower for children with autism (26.1%: P < .001) than for children without IDRC/A (29.9%). Racial and ethnic differences within disability groups were small. Among surgeries in ASCs and HOPDs, the probability of ASC use was 1.8 percentage points lower for Hispanic autistic children (P = .009) than White autistic children. Among children without IDRC/A who were treated in an ASC or HOPD, ASC use was 0.6 percentage points higher for Black children (P < .001) and 1.1 percentage points higher for Hispanic children (P = .001) than for White children. CONCLUSIONS: Children with IDRC and autism were less likely to receive care in ASCs than HOPDs than children without IDRC/A. PRACTICAL IMPLICATIONS: Because ASCs are less costly than HOPDs, providing more care at ASCs for children with IDRC and autism may help reduce costs for this population.
Lien vers le texte intégral (Open Access ou abonnement)
19. Rentschler LF, Taconet A, Linnenkamp B, Shogren KA, Henley R, Townsend RJ, Edwards B. Quality Considerations When Planning and Conducting a Virtual World Café Using an Inclusive Research Approach. J Appl Res Intellect Disabil;2026 (Jan);39(1):e70175.
BACKGROUND: There is a growing movement to equitably include people with intellectual and developmental disabilities in disability research, but traditional research systems pose challenges to sharing power and co-designing research with people with disabilities. We developed an Inclusive Research Learning Series (IRLS) to build the capacities of adults with disabilities to conduct research. Emerging Researchers (i.e., adults with intellectual and developmental disabilities participating in the IRLS) conducted a World Café to research support needs of disabled adults. METHOD: We scored the administration of the World Café using a pre-established rubric, and we qualitatively analysed semi-structured interviews with nine Emerging Researchers using deductive coding. RESULTS: The inclusive research approach was successful in conducting a quality World Café. The Emerging Researchers shared considerations for inclusive research teams conducting future World Cafés. CONCLUSION: We discuss considerations for those seeking to challenge barriers to research training opportunities for adults with intellectual and developmental disabilities. People with intellectual and developmental disabilities co‐led a high‐quality World Café research study. The Inclusive Research Learning Series prepared them to co‐lead a research study. Supporting materials, such as facilitator guides and scripts, helped the researchers with disabilities to do research. This article gives suggestions to researchers on how to do inclusive research. eng
Lien vers le texte intégral (Open Access ou abonnement)
20. Saunders A, Mazefsky CA, Northrup J. Preliminary Evidence for Associations Between Emotion Dysregulation and Therapy Participation in Young Autistic Children. J Autism Dev Disord;2026 (Jan 12)
Lien vers le texte intégral (Open Access ou abonnement)
21. Shi S, Baranova A, Cao H, Zhang F. Exploring Causal Associations Between Plasma Metabolites and Autism Spectrum Disorder. Alpha Psychiatry;2025 (Dec);26(6):48246.
BACKGROUND: In autism spectrum disorder (ASD), the human plasma metabolome is altered but the causal relationship between the levels of metabolites and ASD is unclear. We aimed to assess bidirectional causal associations between plasma metabolites and ASD. METHODS: We investigated potential causal associations between the genetic variation contributing to the levels of metabolites and ASD via Mendelian randomization (MR) analyses. Genome-wide association study (GWAS) summary datasets were used in the study, including ASD (n = 46,350) and 871 plasma metabolite (n = 8299) datasets. We used druggability analysis to prioritize metabolites with therapeutic potential. RESULTS: Our MR analysis identified 32 plasma metabolites whose levels were protective against the risk of ASD, including 5 alpha-androstan-3 alpha, 17 beta-diol disulfate (odds ratio (OR): 0.94, 95% CI: 0.90-0.97) and 11beta-hydroxyetiocholanolone glucuronide (OR: 0.95, 95% CI: 0.92-0.98). Additionally, 12 metabolites were found to be positively associated with the risk of ASD, including indoleacetylglutamine (OR: 1.04, 95% CI: 1.01-1.08) and sphingomyelin (d18:1/24:1, d18:2/24:0) (OR: 1.06, 95% CI: 1.01-1.11). Some metabolites may be regulated through drug intervention, including sphingomyelin, chiro-inositol, carotene diol (1)/(2), and glycerol. Genetic variation contributing to ASD may increase the abundance of five metabolites, including deoxycholic acid glucuronide (OR: 1.18, 95% CI: 1.03-1.34); meanwhile, the abundance of 27 metabolites, including stearoyl choline (OR: 0.80, 95% CI: 0.69-0.92) may be causally reduced. CONCLUSIONS: Our MR analysis uncovered bidirectional causal associations between certain plasma metabolites and ASD, suggesting that these metabolites could be biomarkers for ASD and paving the way for novel therapeutic targets in ASD phenotypes.
Lien vers le texte intégral (Open Access ou abonnement)
22. Tian L, Hu Z, Baptitian IA, Zhao G, Gao L. Systematic Review and Meta-Analysis of Abnormal Pubertal Timing in Children With Autism Spectrum Disorder (ASD). Autism Res;2026 (Jan 11)
This study aimed to synthesize evidence on the risk and patterns of abnormal pubertal timing, including precocious puberty (PP) and altered onset, in children with autism spectrum disorder (ASD) compared with typically developing (TD) peers. We conducted a systematic review and meta-analysis following the PRISMA guidelines, searching PubMed (n = 51), Web of Science (n = 91), and Cochrane Library (n = 19). After removing duplicates (n = 40), we screened 121 records and assessed 31 full-text articles, with 12 meeting the inclusion criteria (3 cohort studies on PP; 9 cohort studies on pubertal timing). Random-effects meta-analyses were performed to calculate pooled hazard ratios (HRs) for PP and standardized mean differences (SMDs) for pubertal timing. Study quality was assessed using the Newcastle-Ottawa Scale (NOS). Meta-analysis of three studies (42,017 ASD children; 3,424,004 TD children) revealed a significantly higher risk of PP in ASD children (pooled HR = 3.64; 95% CI: 1.42-9.34; P = 0.007), with an absolute risk difference of 1.13% (prevalence: 1.2% in ASD vs. 0.07% in TD), indicating that 88 ASD children would need monitoring to identify one additional case of PP; this risk was particularly pronounced in females with ASD. In contrast, nine studies (856 ASD children; 648 TD children) found no significant overall difference in pubertal timing (SMD = -0.22; 95% CI: -0.91-0.46; P = 0.52), despite high heterogeneity (I(2) = 96%). Funnel plot asymmetry suggested potential publication bias or methodological variations (e.g., confounder adjustments, diagnostic criteria). Sensitivity analysis confirmed the association between ASD and PP but highlighted instability in the effect size. Children with ASD exhibit a 3.6-fold increased relative risk of PP, particularly in females, though the absolute prevalence is low and the certainty of evidence is very low (per Grading of Recommendations Assessment, Development and Evaluation [GRADE] criteria), primarily due to high heterogeneity (I(2) = 91%-96%) and potential biases. No consistent differences in pubertal timing were observed between ASD and TD children, likely reflecting methodological inconsistencies. Clinicians should enhance vigilance for PP in ASD children, without the need for routine screening. Future studies should adopt standardized, multi-method assessments to refine these findings. Children with autism, especially girls, are 3–4 times more likely to experience early puberty compared to other children, according to our review of 12 studies. While we didn’t find consistent differences in when puberty starts overall, the wide variation between studies suggests autism may affect puberty differently in different children. These findings highlight the importance of doctors monitoring puberty in autistic children and the need for more personalized research in this area. eng
Lien vers le texte intégral (Open Access ou abonnement)
23. Vacca F, Yalcin B, Kaestner L, Danek A, Peikert K, Walker RH, Ansar M. Proceedings of the 12(th) International Meeting on Neuroacanthocytosis, Cohen Syndrome, and Other VPS13-Related Disorders. Tremor Other Hyperkinet Mov (N Y);2026;16:3.
The 12(th) International Meeting on Neuroacanthocytosis, Cohen Syndrome, and other VPS13-related Disorders was held on September 12(th)-14(th), 2025, at the Jules Gonin Eye Hospital in Lausanne, Switzerland. This long-standing series of international symposia has traditionally focused on neuroacanthocytosis syndromes and associated disorders. The program further broadened its scope to include Cohen syndrome, reflecting the growing recognition of shared molecular features and common unsolved questions across VPS13-related disorders. The aim of the meeting was to present the latest updates in the field, from both clinical and basic science perspectives, and to facilitate collaboration and exchange of ideas among researchers, clinicians, and the patient community. An important aspect of these meetings is the active involvement of patients, their relatives and caregivers, who were invited to attend scientific sessions, in addition to participating in parallel patient-oriented sessions. A total of 20 oral communications were presented in eight scientific sessions accompanied by two keynote lectures, short talks by selected poster presenters, and the 2025 « Glenn Irvine Prize » award lecture.
Lien vers le texte intégral (Open Access ou abonnement)
24. Vanderzell ML, Gover HC, Badger SA, Hanson JL, Smith YM. Treating Food Selectivity in Adolescents and Adults with Autism: A Systematic Replication. Behav Anal Pract;2025 (Dec);18(4):941-957.
We replicated and extended Gover et al. International Journal of Developmental Disabilities 69:53-65, (2023) by applying an intervention to improve the food selectivity of three adolescents and adults on the autism spectrum in a congregate care setting. All participants had limited diets that consisted of low-nutritional snack foods, and exhibited challenging behavior when asked to consume nonpreferred, more nutritious foods that were served in their residences. Following a comprehensive assessment, we provided synthesized reinforcers contingent on completion of participant-selected, successive food-related behaviors toward consumption. The treatment led to the three participants consuming 80%, 60%, and 100%, respectively, of their targeted foods in the absence of challenging behavior.
Lien vers le texte intégral (Open Access ou abonnement)
25. Wang J, Li Y, Zhang D, Sun W, Li J. Correction: Deficiency of autism susceptibility gene Trio in cerebellar Purkinje cells leads to delayed motor impairments. Front Psychiatry;2025;16:1760839.
[This corrects the article DOI: 10.3389/fpsyt.2024.1396716.].
Lien vers le texte intégral (Open Access ou abonnement)
26. Yuan J, Guo T, Rozear H, Dupre ME, Malhotra R, Xu H. Racial and ethnic disparities among older adults with autism spectrum disorder: a scoping review. Aging Ment Health;2026 (Jan 11):1-10.
OBJECTIVES: Although more older adults are living with autism spectrum disorder (ASD), research has focused mainly on younger individuals. Emerging evidence suggests that racial/ethnic disparities may further hinder timely diagnosis and care for older adults with ASD. This scoping review maps existing research on these disparities among older adults with ASD. METHOD: A systematic database search was conducted from 01/15/2025 to 01/30/2025 across PubMed, PsycINFO, and Scopus. The PCC (Population, Concept, Context) framework was used to identify peer-reviewed, data-based studies published in English that focused on adults aged 60 years and older with ASD and explicitly addressed racial/ethnic disparities. RESULTS: Eight of 4,179 articles met the inclusion criteria. All included studies were observational, with the majority (n = 7) conducted in the United States. Racial/ethnic minority older adults with ASD face persistent disparities across the ASD care continuum. Black, Hispanic, and Asian/Pacific Islander older adults were less likely to be dually eligible for Medicare and Medicaid compared to their White counterparts. Additionally, racial/ethnic minority older adults with ASD showed a higher burden of physical and psychological comorbidities but lower likelihood of receiving treatment for their comorbidities. Racial/ethnic minority older adults with ASD had lower rates of outpatient service utilization and reduced access to supportive accommodations compared to their White counterparts. CONCLUSION: Current research on racial/ethnic disparities among older adults with ASD remains limited; this research gap highlights an urgent need for more inclusive, population-specific studies to advance understanding and promote equity at the intersection of aging, autism, and healthcare access.
Lien vers le texte intégral (Open Access ou abonnement)
27. Zhao X, Zhou J, Chyu KY, Erbay E, Cercek B, Shah PK, Dimayuga PC. Myeloid Fmr1 deficiency in mice results in reduced serum cholesterol and altered bile pathway gene expression. PLoS One;2026;21(1):e0340222.
Fragile X Syndrome (FXS) is a genetic disorder caused by increased CGG repeats in the Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene which encodes an RNA-binding protein that can alter mRNA processing, translation and stability. Among the effects of FMRP deficiency is the modulation of metabolic pathway gene expression resulting in reduced cholesterol. In this report, the role of Fmr1 in modulating serum cholesterol of mice fed Western diet was investigated. Fmr1-KO mice had reduced serum cholesterol that occurred even as LDLR expression was reduced, suggesting a non-LDLR pathway of cholesterol clearance. Hepatic bile synthesis gene expression was altered in the Fmr1-KO mice. Given the reports of myeloid cell modulation of liver function, myeloid specific Fmr1 deficiency was investigated. Reduced serum cholesterol was replicated in myeloid-specific deficiency of Fmr1. Myeloid-specific deficient Fmr1 female mice had significantly increased Cyp27a1 while male mice had significantly increased Cyp7b1, yet no differences were observed in serum bile acid levels. Evaluation of bile transporter expression demonstrated that female mice with myeloid Fmr1 deficiency had significantly increased expression of Ntcp and Slco1b2, while myeloid Fmr1 deficient male mice had significantly increased Slco1a1. The sulfonating enzyme Sult2a8 was increased in both female and male mice suggesting some commonality in the pathway, but over-expression of Sult2a8 in Western diet fed wild type mice did not alter serum cholesterol. However, liver expression of the bile acid membrane G protein coupled receptor Tgr5 was significantly increased in myeloid Fmr1 deficient mice suggesting a novel interaction between the Fmr1 gene and Tgr5.
Lien vers le texte intégral (Open Access ou abonnement)
28. Zhong J, Zhu B, Zou Z, Li Y, Feng Y, Wu K, Hou X. Gut microbiota mediates the beneficial effects of exercise on autism-like behaviors. BMC Microbiol;2026 (Jan 12)
BACKGROUND: The gut-brain axis plays a critical role in autism spectrum disorder (ASD), but the mechanisms through which exercise modulates gut microbiota, short-chain fatty acids (SCFAs), and central neurotransmitters to ameliorate ASD-like behaviors remain unclear. This study aimed to investigate the effects of exercise on ASD-like behaviors, gut microbiota, and metabolism in a valproic acid (VPA)-induced ASD rat model and to validate these findings via fecal microbiota transplantation (FMT). METHODS: ASD rat models were established through prenatal exposure to VPA and divided into four groups: exercise (E_ASD), non-exercise (ASD), FMT, and sham FMT (sFMT). The E_ASD group underwent 6 weeks of voluntary wheel running, while the FMT group received fecal microbiota from the E_ASD group for 4 weeks. Behavioral assessments were conducted to evaluate cognitive and social functions. Fecal microbiota composition was analyzed via 16S rRNA sequencing, while SCFAs and neurotransmitters were measured using gas and liquid chromatography-mass spectrometry. RESULTS: Six weeks of voluntary exercise significantly alleviated ASD-like behaviors, particularly improving social interactions. Exercise also altered gut microbiota composition, increasing Limosilactobacillus and Lactobacillus while decreasing Allobaculum. Additionally, SCFAs and neurotransmitter levels in the prefrontal cortex were modulated. Notably, FMT from the exercise group replicated these behavioral and metabolic improvements in ASD rats. Exercise improves ASD-like behaviors by modulating gut microbiota, SCFAs, and neurotransmitter levels, and FMT offers further validation of these effects. CONCLUSION: These findings highlight exercise and FMT as promising strategies for alleviating ASD-related symptoms through gut-brain axis modulation.