1. Aishworiya R, Chin HL, Savulescu J. Should newborn genetic testing for autism be introduced?. J Med Ethics. 2025; 51(9): 603-8.

This manuscript provides a review of the potential role of newborn genetic testing for autism, and whether the state has an inherent responsibility to facilitate and subsidise this. This is situated within the broader construct of benefits and limitations of genetic testing currently. Potential benefits of such presymptomatic genetic testing include facilitating earlier diagnosis and access to appropriate intervention which can improve the treatment outcome for the child and indirectly benefit caregivers and society by reducing the care needs of the child and adult in future. However, there are several limitations to newborn genetic testing including the variable penetrance of ‘autism-risk’ genes, marked phenotypic heterogeneity of autism, real-world limitations in access to treatment, potential psychological harm to caregivers and financial considerations. We hence argue for facilitation of diagnostic genetic testing instead, especially for parents who seek to have greater understanding of recurrence likelihoods, related to reproductive decision-making. Facilitation of such testing can be in the form of both financial subsidies and infrastructural elements including availability of testing facilities and trained healthcare personnel for individualised pregenetic and postgenetic test counselling.

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2. Al-Juhaishi HQK, Jaber OA, Lami F, Jasim SM, Nayeri ND, Sabet MS, Al-Gburi G. Risk factors for low knowledge and negative attitudes among caregivers of children with autism spectrum disorder in Iraq: a multi-centre cross-sectional study. Front Psychiatry. 2025; 16: 1568467.

INTRODUCTION: Children with autism spectrum disorder (ASD) can experience delayed diagnosis and ineffective treatment due to low caregiver knowledge. Negative attitudes have also been linked to increased emotional problems and poor adaptive outcomes. Before educational interventions can address these issues, local knowledge and attitudes must be assessed, including the identification of high-risk groups that require prioritisation. METHODS: Between February 17 and September 10, 2024, Al-Subtain Academy for Autism and Baghdad’s National Centre for Autism and Child Psychiatry conducted a cross-sectional study. Data was collected using a structured questionnaire developed based on the Autism Stigma and Knowledge Questionnaire (ASK-Q) and a review of previous studies. The questionnaire was pre-tested on 25 caregivers for clarity and reliability. RESULTS: 302 caregivers were included, all of whom were family members of the children. 57 caregivers (18.9%) had low knowledge of ASD, while only 24 (7.9%) had high knowledge. College-educated caregivers scored higher than those who were illiterate or with primary or secondary school education (p-values = 0.009, 0.002, and 0.007). Similarly, caregivers from low-income backgrounds had less knowledge than those from average and high-income backgrounds (p-value = 0.002 and 0.005). However, this difference was no longer apparent when controlling for the lack of tertiary education (B = 1.231, p-value = 0.119). 105 (34.8%) thought that a complete cure is possible, with higher rates among caregivers without tertiary education (43.0%, adjusted p-value = 0.048) or from low-income backgrounds (55.0%, adjusted p-value = 0.0002). In terms of attitudes, 44 (14.6%) believed that all children with ASD are aggressive, and 114 (37.7%) believed that they are deliberately negativistic and non-compliant. Being ashamed of the diagnosis was more common if the child had comorbid conditions. However, this difference was only significant before adjusting for multiple testing (adjusted p-value = 0.286). CONCLUSION: Educational programmes should be implemented to enhance knowledge and address treatment expectations, especially among caregivers with low income and lower education. Efforts should be focused on reducing negative attitudes to improve overall outcomes.

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3. As’ari H, Suriana S, Yumni H. The Effect an Stress Assessment-Based Family Coping Model on Caring Behavior of School-Age Children with Autism. Iran J Nurs Midwifery Res. 2025; 30(4): 481-5.

BACKGROUND: Families who assume the limitations and negative impacts of having an autistic child as a major stressor tend to have a severe stress level, which results in maladaptive family coping and low caring behavior, so failure of autistic children occurs. This study aimed to analyze the effect of family coping models based on stress assessment to caring behavior of school-aged autistic children. MATERIALS AND METHODS: Quasi-experimental research was conducted on parents of 7-12 years old autistic children in center autism Surabaya, Indonesia. A large sample was used and the rule of thumb was used in sem, 9 indicators × 12 observed variables = 108. Parents were classified into a control group of 54 people without treatment and a control group of 54 people with treatment, who were given an application of randomly determined coping model. Data were collected from May to July 2022 using a questionnaire. Two-way test of variance using Wilcoxon signed ranks was used, and the difference test between groups uses Mann-Whitney U. RESULTS: The difference test between in the controlled group shows any significant differences in family coping (z = 0.13) and ability the care for school-age autistic children (z = 0.08). The difference test between samples in the treatment group shows that there are significant differences in family coping (z = 5.04) and ability to care for school-age children autistic (z = 5.08). The difference test between the control and treatment groups shows that there are significant differences in family coping (z = 5.75) and the ability to care for school-age children autistic (z = 7.00). CONCLUSIONS: There is a significant difference on family coping and caring behavior between the control and treatment groups, which is going to be good. It was shown that creating an adaptive family coping was necessary.

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4. Barry A, Haegele JA, Schaefer D, Pickett KA, Columna L. Autistic Young Adults’ Experiences and Recommendations for Strength Training. J Autism Dev Disord. 2025.

Strength training can be a beneficial form of physical activity (PA), but little research has examined how autistic individuals experience it or what makes programs accessible and supportive. Therefore, the purpose of this study was twofold: (1) to explore autistic young adults’ experiences with strength training, and (2) examine their recommendations for designing programs that meet their needs. Thirteen autistic young adults (ages 22-25) participated in semi-structured interviews about their strength training experiences and preferences for program design. A qualitative descriptive approach with a constructivist lens guided reflexive analysis. Participants described key factors that influenced their participation in strength training, including social support, knowledgeable coaching, and the physical and mental benefits of participation. They emphasized the need for programs that accommodate sensory preferences, provide flexible scheduling, and offer both group and individual training options. These findings highlight ways to improve strength training accessibility for autistic young adults and inform the development of more inclusive programs. Future research should include participants without previous strength training experience and of various ethnic and racial backgrounds.

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5. Bravo-Muñoz F, Bustos I, Muñoz-Fierro D, San-Martín S, Tabilo C, Véliz M, Zaror T, Ormazabal P, Brusselaers N, Fornes R. « Risk of Autism Spectrum Disorder in Descendants of Women With Gestational Diabetes and Polycystic Ovary Syndrome: A Systematic Review and Meta-Analysis ». Autism Res. 2025.

Some reports show that children exposed to hyperandrogenemia or hyperglycemic states in utero are more prone to be diagnosed with autism spectrum disorder (ASD). This systematic review and meta-analysis aim to assess the association between Polycystic Ovary Syndrome (PCOS) or gestational diabetes (GD) and ASD. A systematic review (1980-2023) in Web of Science, PubMed and Scopus, using specific search terms « gestational diabetes », « polycystic ovary syndrome, » « neurodevelopmental disorder » and « autism spectrum disorder » was performed. Generic inverse-variance method was used to pool the adjusted or crude effect measures with a random-effects model. Results were presented as relative risk (RR) with 95% confidence interval (CI). Only studies from the northern hemisphere were found. All the articles evaluated the association between either GD (n = 16) or PCOS (8) and ASD separately. The overall analysis revealed that there is an increased risk of ASD in the offspring of women diagnosed with GD [RR = 1.23 (95% CI 1.13-1.34), n = 14] and in women diagnosed with PCOS [RR = 1.35 (95% CI 1.17-1.56), n = 6]. In a sensitivity analysis, the risk of ASD was particularly higher in mothers with GD and obesity. Although both GD and PCOS have been associated with ASD in offspring, studies in other geographical regions are needed. Future research should investigate how varying androgen levels in PCOS and the timing of GD diagnosis might influence the observed associations. Additional studies are needed to confirm these associations, address potential confounding variables, and explore whether these maternal conditions contribute directly or indirectly to autism risk.

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6. Colville G. Siblings’ reflections on what it is like to have an autistic brother or sister with additional needs. Evid Based Nurs. 2025.

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7. DiGuiseppi C, Holst B, Bolt M, Schmiege SJ, Bartholomay K, Barger B, Crume T, Levy S, Nadler C, Schieve LA, Tian LH, Wiggins LD. Associations of Adaptive Behavior and Wandering with Serious Injuries in Young Children with Autism: Study to Explore Early Development. J Autism Dev Disord. 2025.

PURPOSE: Increased injury risk in children with autism may result from co-occurring developmental characteristics and challenges. We examined associations of adaptive behavior delay and wandering with injuries among children with autism. METHODS: Cross-sectional analyses were performed using data from 648 children aged 30-68 months with autism determined by standardized instruments. Associations of adaptive behavior delay and wandering with any parent-reported serious injury (i.e., resulting in emergency department visit or hospitalization) since birth were examined, adjusting for age and attention-deficit/hyperactivity problems. Effect modification by significant early learning delay (SELD) was assessed. RESULTS: Prevalence of serious injury was 27%. Delayed adaptive behavior occurred in 81% and wandering sometimes or often in 59%. Associations of both adaptive behavior and wandering with serious injury differed by SELD status. Among children with SELD, adjusted prevalence of serious injury was increased in those with normal adaptive behavior (47%) versus delayed adaptive behavior (24%) (adjusted prevalence ratio [aPR] = 2.01; 95% confidence interval (CI): 1.17, 3.45, p = 0.011) and in those who wandered often or sometimes (30%) versus those who did not (18%) (aPR = 1.50; 95%CI: 1.01, 2.25, p = 0.047). Among children without SELD, neither normal adaptive behavior (aPR = 0.82; 95%CI: 0.54, 1.32; p = 0.336) nor wandering (aPR = 0.88; 95%CI: 0.59, 1.30; p = 0.516) was significantly associated with serious injury. CONCLUSION: Among children with autism, there appears to be a complex interplay among wandering and adaptive behavior, SELD and injury occurrence. Children with autism and SELD who have normal adaptive behavior or who wander may be important targets for injury prevention interventions.

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8. Jang SS, Takahashi F, Huguenard JR. Reticular thalamic hyperexcitability drives autism spectrum disorder behaviors in the Cntnap2 model of autism. Sci Adv. 2025; 11(34): eadw4682.

Autism spectrum disorders (ASDs) are neurodevelopmental conditions characterized by social deficits, repetitive behaviors, and comorbidities such as sensory abnormalities, sleep disturbances, and seizures. Although thalamocortical circuit dysfunction has been implicated in these symptoms, its precise roles in ASD pathophysiology remain poorly understood. Here, we examine the specific contribution of the reticular thalamic nucleus (RT), a key modulator of thalamocortical activity, to ASD-related behavioral deficits using a Cntnap2 knockout mouse model. Cntnap2(-/-) mice displayed increased seizure susceptibility, locomotor activity, and repetitive behaviors. Electrophysiological recordings revealed enhanced intrathalamic oscillations and burst firing in RT neurons, accompanied by elevated T-type calcium currents. In vivo fiber photometry confirmed behavior-associated increases in RT population activity. Notably, pharmacological and chemogenetic suppression of RT excitability via Z944, a T-type calcium channel blocker, and via C21 activation of the inhibitory DREADD hM4Di significantly improved ASD-related behaviors. These findings identify RT hyperexcitability as a mechanistic driver of ASD and highlight RT as a potential therapeutic target.

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9. Jenkins MR, Radtke SR, Rizo CF, Dababnah S, Hume K, Alam IZ. Sex Trafficking Prevention for Youth with Intellectual and Developmental Disabilities: Service Provider Perspectives. J Hum Traffick. 2025; 11(1): 20-37.

Given the paucity of research on sex trafficking prevention education for youth with intellectual and developmental disabilities (IDD), this qualitative study aimed to determine service providers’ (N = 22) perspectives regarding (a) topics and delivery methods to include in this programming, (b) factors that promote accessibility, and (c) challenges and recommendations associated with implementation. Individual interviews and focus groups were conducted using Zoom. For programming acceptability, participants identified challenges (e.g., misconception that individuals with IDD are asexual) and recommendations (e.g., teaching developmentally appropriate concepts in early childhood). For content and delivery, topics included consent, safety, and context/social rules. Tactical activities for self-care and sensory processing, and non-infantilizing, realistic visuals were recommended to improve accessibility. For systems involvement in disclosures and referrals, participants noted challenges (i.e., confusion about agency responsibility and information sharing) and recommendations (i.e., ensuring a clear and predictable disclosure process for youth). Findings can contribute to policy development, particularly in service provider training for responding to disclosures and clarifying funding allocation for school and community sex trafficking prevention.

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10. Jyonouchi H, Kornitzer J, Geng L. Favorable responses to upadacitinib, a JAK1 inhibitor, in long COVID patients with predominant neuropsychiatric symptoms: case reports in 2 autistic patients and one typically developing patient. BMC Neurol. 2025; 25(1): 342.

The long-term impact of coronavirus disease 2019 (COVID-19) has become evident over the past 3-4 years, with the recognition of post-COVID long-term sequelae, often referred to as long COVID. Neuropsychiatric symptoms are one of the hallmarks of long COVID. In severe cases, it can even present features of encephalopathy. Since some of the neuropsychiatric symptoms associated with long COVID overlap symptoms found in neuropsychiatric disorders, it has been difficult to sort out the effects of long COVID in such subjects. This is especially true in patients diagnosed with autism spectrum disorders (ASD), given their difficult behavioral symptoms and other co-morbid conditions. COVID-19 is thought to affect the onset or progress of encephalopathy symptoms by activation of the immune system through the type 1 interferon (IFN) signaling pathway. In that case, treatment would require an immunomodulating agent that targets such pathways. However, such measures may not be applied to ASD subjects, in whom long COVID may not even be considered as the cause of their symptoms. In this study, we present the beneficial effects of upadacitinib, a JAK (janus kinase) 1 inhibitor, that blocks downstream signaling of type 1 IFNs, on 3 patients, 2 with ASD and one without ASD. In these patients, long COVID was thought to have triggered or aggravated encephalopathy-like symptoms. The beneficial effects of upadacitinib were not only noted by an improvement of their behavioral symptoms but also shown by an improvement of monocyte cytokine profiles (less activated state); peripheral blood monocytes were used as surrogates of microglial cells. These three cases presented highlight a possible use of JAK inhibitors for treating long COVID-associated neuropsychiatric symptoms in both ASD and non-ASD subjects. The presented cases highlight the inherent difficulty of diagnosing long COVID in ASD cases.

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11. Kang J, Yang X, Zhang L, Li X, Zheng S, Tian X. EEG microstate-based static and dynamic brain functional network differences in autism spectrum disorder children and tDCS interventional modulation. Brain Dev. 2025; 47(5): 104423.

BACKGROUND: Autism has garnered significant attention due to its abnormal brain network function. METHODS: EEG microstates are brief, stable patterns of brain activity during rest, lasting 80-120 milliseconds before rapidly transitioning to new configurations. A static brain functional network was constructed based on microstates, and the static brain functional network was further quantified using fuzzy entropy to build a dynamic brain functional network. The techniques thoroughly assessed how children with autism spectrum disorder (ASD) and typically developing (TD) brain networks differed from two angles: microstate static functional connectivity and dynamic temporal variability. These features were used in a support vector machine classification model to distinguish ASD children. Additionally, the impact of transcranial direct current stimulation (tDCS) on the brain functional network of ASD children was also assessed using this approach. RESULTS: The static functional connectivity of microstate A in ASD children was significantly lower than that of TD children, while the static functional connectivity of microstate D was significantly higher in the ASD group. The dynamic functional connectivity of microstates A, B, C, and D in the ASD group was significantly reduced across the whole brain. The support vector machine (SVM) classification accuracy based on these features was 96.33 %. Furthermore, after tDCS intervention, ASD children showed a trend of increased static functional connectivity in microstates A and C, as well as a tendency for increased dynamic functional connectivity in microstates A, B, and D. CONCLUSION: A notable disparity was observed between children diagnosed with ASD and TD regarding their static and dynamic brain networks. The excellent classification results were achieved. Furthermore, it was discovered that the tDCS intervention altered the children with ASD’s static and dynamic brain networks.

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12. Kataoka S, Nakai A, Nobusako S. Kinematic and kinetic characteristics of graphomotor skills in children with neurodevelopmental disorders: The impact of DCD, ADHD, and ASD traits. Hum Mov Sci. 2025; 103: 103388.

Interest in the development of handwriting skills has been increasing; however, there is no consensus on the handwriting abilities of children with developmental coordination disorder (DCD), attention-deficit/hyperactivity disorder (ADHD), and autism spectrum disorder (ASD), and the specific handwriting characteristics associated with each neurodevelopmental disorder remain unclear. This exploratory study examined the preliminary associations between graphomotor skills and neurodevelopmental traits in 17 children (aged 7-11 years) diagnosed with DCD, ADHD, or ASD. The evaluation included handwriting fluency assessments, kinematic/kinetic analyses, and assessments of neurodevelopmental disorder traits. The participants performed tracing tasks involving straight lines, sine waves, and triangular waves using the TraceCoder® system. Graphomotor kinematic/kinetic parameters, including deviation from the baseline, pen pressure, velocity, acceleration, jerk, and area, were quantified. Fluency was assessed using the Understanding Reading and Writing Skills of Schoolchildren II test. Neurodevelopmental traits were evaluated using the DCD Questionnaire, ADHD Rating Scale, and Autism Spectrum Quotient. Increased DCD, ADHD and ASD traits were correlated with deteriorations in graphomotor parameters, such as greater deviation, and increased acceleration, jerk, and pen pressure. In contrast, higher ASD traits were associated with improvements in handwriting fluency. These preliminary findings suggest that graphomotor characteristics may vary depending on specific neurodevelopmental traits, underscoring the potential value of tailored assessments and interventions.

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13. Kim SW, Lee H, Song DY, Lee GH, Han JH, Lee JW, Byun HJ, Son JH, Kim YR, Lee Y, Kim E, Werling DM, Kim SH, Sanders SJ, Yoo HJ, An JY. Evaluation of familial phenotype deviation to measure the impact of de novo mutations in autism. Genome Med. 2025; 17(1): 93.

BACKGROUND: The phenotypic outcomes of de novo variants (DNVs) in autism spectrum disorder (ASD) exhibit wide variability. To date, no study has comprehensively estimated DNV effects accounting for familial phenotypic background. METHODS: To evaluate DNV effects in a family-relative context, we defined within-family standardized deviations (WFSD) by subtracting phenotype scores of unaffected family members and standardizing the result. We applied this approach to 78,685 individuals from 21,735 families from ASD cohorts of diverse ancestries. We compared the distribution, associations with disruptive DNVs, and gene discovery results between WFSD and raw phenotype scores. We further performed outlier analysis based on WFSDs per gene to detect genes with high variability between families. RESULTS: We observed that ASD probands with disruptive DNVs exhibited greater behavioral symptoms and lower adaptive functioning relative to their within-family unaffected members. Compared to raw phenotype scores, WFSD provided clearer associations with DNVs and enabled greater yield in DNV-enriched gene discovery, including 18 novel ASD-associated genes. Outlier analysis identified 11 genes with high intrafamilial variability in phenotypic effects, influenced by mutation sites within functional domains or exons. CONCLUSIONS: Familial DNV analysis provides accurate effect estimates, a reliable basis for predicting clinical outcomes, and precise support while minimizing confounding from family background. This approach improves the identification of ASD-associated genes with true phenotypic effects by reducing variability, as well as genes with genuine phenotypic heterogeneity across families driven by mutation site. These findings enhance our understanding of ASD phenotype variability and inform potential targets for intervention.

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14. Kuo Y, Fettig A. Relationship Between Parent Training, Family-Professional Partnerships, and Family Quality of Life for Families of Autistic Children. J Autism Dev Disord. 2025.

Families of autistic children often have a lower Family Quality of Life (FQOL) compared to families with neurotypical children due to stressors such as emotional, physical, and financial burdens, as well as social isolation. This study aimed to investigate how parent training programs and family-professional partnerships influence FQOL in families of autistic children. A sample of 406 diverse caregivers who completed a survey about their experiences with parent training, satisfaction with their families’ quality of life, and the quality of their partnerships with professionals was analyzed. Regression analysis revealed that contextual fit and family-professional partnerships were positively correlated with higher FQOL scores. Interaction effects showed that the impact of partnerships on FQOL was stronger when caregivers participated in knowledge-focused programs but weaker when they participated in comprehensive programs. These findings highlight the importance of developing contextually appropriate parent training programs, providing necessary information, and fostering strong family-professional partnerships to support FQOL for families of autistic children.

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15. Libster N, Taylor JL, Zheng S, Bishop S, Adams R. Examining Associations Between Social Experiences and Loneliness Among Autistic Youth. Autism Res. 2025.

To develop targeted interventions aimed at reducing loneliness among autistic youth, it is critical to understand which social experiences are associated with loneliness in this population. The current study examined associations between loneliness, social interaction/solitary experiences (i.e., time spent interacting and alone, feelings during time spent interacting and alone) and peer experiences (i.e., victimization, being ignored, and being included) among autistic youth. Autistic youth (N = 241) between 15 and 26 years old (M = 18.7) completed online surveys that measured their levels of loneliness and the degrees to which they were victimized, ignored, and included by peers. Furthermore, at 9 PM each day for 7 consecutive days, participants were prompted via a smartphone app to report events that occurred within five specific time frames throughout that day. Youth reported how long they participated in each event, whether they were interacting with others or alone, and for the longest lasting activity in each time frame, the degree to which they experienced positive and negative feelings. Results revealed that more negative feelings when interacting and when alone were associated with increased loneliness, whereas more positive feelings when alone were associated with reduced loneliness. Neither time spent interacting nor time spent alone was significantly associated with loneliness. Greater frequency of being ignored was also associated with increased loneliness. Therefore, rather than focusing on the amount of time autistic youth spend interacting and alone, it is equally important for future interventions to consider ways to increase youth’s satisfaction with the quantity and quality of their social interactions.

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16. MacIsaac MF, Fritz A, Crenshaw ML, Gardner L, Halsey JN, Rottgers SA. Autism Spectrum Disorder in the Cleft Population: Evaluating Occurrence in Non-Syndromic Patients. Cleft Palate Craniofac J. 2025: 10556656251368659.

ObjectiveThis study aimed to quantify the prevalence of autism spectrum disorder (ASD) in patients with non-syndromic orofacial clefts (OFCs) and to examine associated socio-demographic, phenotypic, and genetic factors. As a secondary objective, we evaluated ASD prevalence in the full OFC cohort, including syndromic cases, to provide context and enable comparison between groups.DesignA retrospective chart review was performed in this study.SettingThis study was conducted in a multidisciplinary cleft/craniofacial clinic at a tertiary children’s hospital.PatientsA total of 412 patients with OFC (ages 2-20) were evaluated between 2019 and 2024.Main Outcome MeasuresThe main outcome measures of interest were the occurrence of ASD diagnosis or concern, association with syndromic status, cleft phenotype, and socioeconomic context (measured using the Area Deprivation Index [ADI] and Child Opportunity Index [COI]).ResultsOverall, 7.0% of patients had a confirmed ASD diagnosis, and 7.5% had documented concern for ASD. Among patients with non-syndromic OFC (n = 293), 7.8% had a confirmed ASD diagnosis, which is 3.9 times higher than prior pooled estimates. When categorized by cleft phenotype, ASD diagnosis was highest in patients with cleft palate (CP) only (9.8%). Among non-syndromic patients, ASD was associated with higher ADI and lower COI scores, suggesting greater socioeconomic disadvantage; no associations were seen in the syndromic group. Genetic testing was pursued more frequently in patients with ASD, though pathogenic variant rates were not significantly different.ConclusionASD was more common among patients with non-syndromic OFC than previously reported in the literature or expected based on general population rates. Children with CP and those from disadvantaged backgrounds may be at particularly elevated risk within the current sample. Routine developmental surveillance in all OFC patients may support earlier ASD identification and intervention.

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17. Magai DN, Berman BD, Mutua AM, Smythe T, Olusanya BO, Gulati S, Mwesige AK, Blaikie A, Lusobya RC, Coghill D, Gladstone M. Scoping review of evidence-based practice guidelines for the evaluation and care of young children with developmental disabilities in LMIC settings: evidence for action. BMJ Paediatr Open. 2025; 9(1).

INTRODUCTION: Childhood disability is increasingly prevalent, particularly in low-income and middle-income countries, as more children survive worldwide. Global practice guidelines are essential to address the need for timely identification, evaluation and management of children with developmental disabilities, particularly in resource-limited settings. This scoping review aims to summarise recent evidence-based practice guidelines for the assessment and care of children aged 0-5 years at risk or with developmental disabilities and identify those practice guidelines that are suitable for use across both global and resource-limited settings. METHODS: We searched PubMed, Scopus, CINAHL as well as websites for professional associations using Google to identify evidence-based practice guidelines for specific developmental disabilities with established global prevalence estimates. We identified additional literature through snowballing. Practice guidelines were included if they were published between September 2012 and June 2024, were in English, and demonstrated a systematic process of reviewing available evidence, which then provided information on the detection, diagnosis, treatment and management of children under five with developmental disabilities. Three reviewers independently screened results by title, abstract and full text. Study characteristics and outcome data were extracted, and results were narratively synthesised. RESULTS: 43 practice guidelines met the eligibility search criteria. Few evidence-based practice guidelines were generated from resource-limited settings (n=3, 7.0%). Of these, two were published in Malaysia and one from Cameroon. Most of the practice guidelines focused on both assessment and management (n=20, 46.5%), with some addressing only assessment (n=9, 20.9%) or management of the conditions (n=14, 32.6%). CONCLUSIONS: Practice guidelines focusing on the identification and support of children with developmental disabilities, chiefly published within high-income settings, are available to be selectively adapted and utilised across similar localities globally. All young children with developmental disabilities worldwide have the right to access equitable, timely and quality health and developmental care services.

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18. Miao Y, Luo R, Lin F, Tong B, Yan J, Yang T, Sun Z, Li T, Xiao L, Chen J. Corrigendum to « Increasing indoxyl sulfate induces iNOS expression via aryl hydrocarbon receptor leading to microglia hyperactivation in the prefrontal cortex of autism-like offspring rats » [Neurosci. Lett. 862 (2025) 138298]. Neurosci Lett. 2025: 138358.

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19. Nieto C, Gandía-Abellán H, Sorrel MA, Garrido-Salcedo M. Development and validation of the AIDA scale: Anxiety in people with autism and intellectual disability assessment. J Intellect Dev Disabil. 2025: 1-13.

BACKGROUND: Minimally verbal autistic people with intellectual disabilities are at risk of anxiety, yet remain underrepresented in research due to the lack of tools adapted to their functional profiles. This study aimed to develop and validate the AIDA Scale: Anxiety in People with Autism and Intellectual Disability Assessment. METHOD: A total of 247 participants (133 parents; 114 professionals) contributed across three phases: indicator identification, pilot study, and validation. RESULTS: Evidence of reliability (internal consistency and omega coefficient) and validity was gathered, including examination of the scale’s dimensionality (parallel analysis, model fit indices, and factor loadings inspection) and its relationship with other variables. Findings support the use of a single total score encompassing general behaviour and behavioural change indicators. CONCLUSION: The AIDA Scale is an effective tool for assessing anxiety symptoms in this population. Meeting these needs is critical for improving emotional wellbeing and ensuring people’ rights to appropriate emotional care.

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20. Park H, Choi JH, Choi SJ. Enhanced Postural Control Through Textured Insoles in Adults With Autism Spectrum Disorder: A Sensorimotor Integration Perspective. Motor Control. 2025: 1-25.

This study investigated the effects of textured insoles on postural control in adults with autism spectrum disorder (ASD), examining how enhanced somatosensory feedback influences sensorimotor integration under varying sensory conditions. Twenty-one adults with ASD (Mage = 28.4 ± 4.2 years) participated in a within-subjects design study with a 2 × 2 × 2 factorial design (surface: firm/foam, vision: eyes open/closed, and insole: with/without). Postural control was assessed using the Gaitview AFA-50 pressure platform system. Center of pressure parameters, including envelope area, root mean square, and total path length were analyzed to evaluate spatial and temporal aspects of postural control performance. The results showed that textured insoles significantly reduced postural sway parameters, indicating improved postural control, most significantly in conditions where sensorimotor integration was challenging (eyes closed on foam surface). Envelope area was reduced by 45.2% (p < .01), root mean square by 38.2% (p < .001), and total path length by 31.1% (p < .001), indicating improved postural control. Astrong interaction between surface type and insole condition was found particularly for root mean square (ηp2 = .685, p < .001), suggesting that the effects of somatosensory enhancement are greater when proprioceptive information is limited. Our results suggest that textured insoles reduce postural sway in adults with ASD, indicating improved postural control by enhancing plantar somatosensory feedback. This sensory augmentation may compensate for sensory integration difficulties commonly observed in ASD by strengthening one sensory channel, potentially facilitating more effective multisensory integration for postural control.

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21. Qiao SN, Wang SE, Kim KY, Jo S, Jiang YH. Inflammation increases the penetrance of behavioral impairment in Shank3 haploinsufficiency mice – can it explain the behavioral regression in Autism?. bioRxiv. 2025.

Behavioral regression occurs in ∼40% of SHANK3 -associated autism spectrum disorder (ASD). We previously reported that significant behavioral regression in a small cohort with SHANK3 haploinsufficiency patients, triggered by subclinical infections, responded to immunomodulator treatments. We hypothesize that behavioral regression results from the interplay between SHANK3 deficiency and neuroinflammation. Using Shank3 exon 4-22 deletion heterozygous mutant ( Sh3 (+/-) ) mouse, which shows no significant behavior impairments, we established a preclinical model – Shank3 haploinsufficiency mouse undergoing systemic inflammation challenge via intraperitoneal injection of lipopolysaccharides (LPS). We found that, two weeks after LPS challenge, wild-type mice (WT) recovered but Sh3 (+/-) mice exhibited motor impairment, anxiety-like behaviors, and excessive grooming, similar to Shank3 exon 4-22 deletion homozygous mutants. Anti-inflammatory treatment partially reversed LPS-induced behavioral changes. Transcriptomic analysis revealed upregulation of neuroinflammation-related genes and downregulation of synaptic function-related genes in Sh3 (+/-) mice in response to LPS. Especially, pro-inflammatory genes and microglia markers were overly activated that may result from the increased Toll-Like Receptor 4 (TLR4) expression in microglia in Sh3 (+/-) mice. Our findings indicate that neuroinflammation increases the penetrance of behavioral impairment in Shank3 haploinsufficiency mice and support a potential mechanism for the behavioral regression in human SHANK3 disorders for future investigations.

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22. Selvanathan T, Oloomi S, Guo T, Ufkes S, Chau V, Branson H, Synnes A, Ly LG, Kelly EN, de Vries LS, Grunau RE, Miller SP. Association of Early-Life or Term-Equivalent White Matter Injury With Neurodevelopmental Outcomes in Very Preterm Infants. Neurology. 2025; 105(5): e214016.

BACKGROUND AND OBJECTIVES: We determined whether white matter injury (WMI) severity and location on early-life vs term-equivalent age (TEA) brain MRI were more strongly associated with 36-month neurodevelopment. METHODS: Very preterm infants were recruited across 3 tertiary NICUs and underwent early-life and TEA MRI. Moderate-severe WMI severity and anterior or posterior location were scored. 36-month neurodevelopmental assessments were completed with Bayley Scales of Infant Development, Third Edition; delay was defined as a composite score <85 points. Multivariable logistic regressions adjusting for birth gestational age, site, infection, retinopathy of prematurity, moderate-severe intraventricular hemorrhage, and antenatal magnesium sulfate were used to determine associations of WMI severity and location at each scan with neurodevelopment. RESULTS: A total of 393 neonates (postmenstrual age median 27.6, SD 2.3 weeks, 47% female) completed early-life and TEA MRI scans. Cognitive delay was associated with early-life moderate-severe (OR 3.82, 95% CI 1.17-9.14) and anterior (OR 5.47, 95% CI 1.72-17.29) WMI. Motor delay was associated with early-life anterior WMI (OR 3.02, 95% CI 1.12-8.2). These associations were not observed at TEA in multivariable logistic regressions. DISCUSSION: Moderate-severe and anterior WMI on early-life, but not TEA, MRI were associated with neurodevelopmental outcomes. Early-life MRI may represent a more optimal time point for assessing WMI in very preterm infants.

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23. Shah J, Mondal D, Jain D, Mhatre P, Patel K, Iyer A, Pandya M, Menghani B, Dave G, Sheth J, Sheth F, Ramdas S, Sheth H. Long read whole genome sequencing-based discovery of structural variants and their role in aetiology of non-syndromic autism spectrum disorder in India. BMC Med Genomics. 2025; 18(1): 131.

BACKGROUND: Despite having heritability estimates of 80%, ~ 50% cases of autism spectrum disorders (ASD) remain without a genetic diagnosis. Structural variants (SVs) detected using long-read whole genome sequencing (lrWGS) are a relatively new class of variants implicated in neurodevelopmental disorders. Short read sequencing (SRS) and chromosomal microarray (CMA) are unable to resolve these SVs due to their inherent technological limitations. This study was aimed to detect and delineate the role of SVs in children with non-syndromic ASDs using lrWGS in whom prior traditional genetic tests did not yield a definitive genetic diagnosis. METHODS: A total of 23 patients with no prior genetic diagnosis from karyotyping, Fragile-X analysis, CMA and short read whole exome sequencing (srWES) were selected for lrWGS using Oxford Nanopore based sequencing platform. Samples were sequenced at an average coverage of ~ 7x. Contigs generated from high accuracy base calling were aligned against GRCh38/hg38 human reference genome build. SVs were called using five variant callers- Sniffles2, cuteSV, NanoVar, SVIM, and npInv, and annotated using AnnotSV. Calls from cuteSV were used as benchmark to identify concordant calls across at least three variant callers. RESULTS: An average whole genome coverage of ~ 7x and N50 read length of 6.65 ± 3.3 kb was obtained across 46 runs (two runs/ sample). On average, a total of approximately 235,163 calls were made across all callers for each sample. The average number of deletions, duplications, insertions, inversions and translocations were 54,787, 3,335, 62,459, 1,286, and 113,296, respectively, were detected across all callers per sample. Of 23 cases, a candidate SV, an inversion of approximately 2.7 Mb in size encompassing SNAP25-AS1 gene was observed. This gene is likely to be involved in the synaptic pathway and has previously been associated with autism. CONCLUSION: This is the first study from India to assess the role of SVs in the aetiology of non-syndromic ASDs. Despite the small sample size, low-pass genome coverage, and modest N50 read length, the study indicates a modest contribution of SVs in the aetiology of non-syndromic ASD. Dearth of data supporting the role of SVs in non-syndromic ASDs in other cohorts from around the world further supports our conclusion.

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24. Soltysova M, Tomova A, Paulinyova M, Lakatosova S, Trebaticka J, Ostatnikova D. Gut microbiota in children and adolescents with autism, ADHD and anorexia nervosa, and its link to the levels of satiety hormones. Neuroscience. 2025.

Neurodevelopmental disorders such as autism spectrum disorder (ASD), attention-deficit/hyperactivity disorder (ADHD), and anorexia nervosa (AN) significantly impact affected individuals and their families. This study investigated differences in gut microbiota composition, neurotrophic factors, intestinal inflammation biomarkers, and food intake-regulating hormones between affected children and healthy controls. As these disorders are often accompanied by abnormal eating behaviours, we also explored the levels of food intake regulating hormones and their interrelations with other parameters. Our cohort comprised 117 children, including 65 patients (30 boys with ASD, 21 girls with AN, and 14 patients with ADHD) and 52 age- and sex-matched healthy children. We found several common patterns in dysbiosis of different disorders. Richness was lower in ASD and ADHD, and the Bacteroidetes/Firmicutes ratio was higher in all disorders. The Desulfovibriota abundance was increased in ADHD and AN, and Escherichia-Shigella was elevated in ASD and ADHD. Faecalibacterium abundance was decreased in ADHD and AN. A reduction of Bifidobacterium was also common. Children with ASD exhibited an elevated Bacteroidetes and a diminished Actinobacteriota, and Ruminococcus. Children with ADHD manifested reduced Firmicutes. Girls with AN displayed a decreased Firmicutes and increased Proteobacteria, Cyanobacteria, and Verrucomicrobiota. Calprotectin, zonulin and neurotrophic factors levels showed no significant differences. Lower PYY levels in ADHD and reduced PYY, leptin, and ghrelin levels in AN patients were found. Notably, certain resemblances was observed in the microbiotic taxa abundances across all patient cohorts, underscoring the conceivable influence of gut microbiota composition on the behavioral manifestations of mental disorders.

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25. Xue LR, Cen CQ, Huang Z, Wang F, Deng HZ, Zou XB. Clinical and Cognitive Characteristics of Children with Co-occurring ASD and Subthreshold ADHD: Social, Functional and Executive Function Impairments. J Autism Dev Disord. 2025.

Over 20% of children with autism spectrum disorder (ASD) present co-occurring subthreshold attention-deficit/hyperactivity disorder (ADHD) traits. This study investigated the clinical profiles, executive function (EF) characteristics, and functional impacts in children with comorbid ASD and subthreshold ADHD, with an emphasis on dimensional relationships between ADHD symptom severity and neurocognitive outcomes. A total of 104 children aged 7-14 years (15 ASD alone, 33 ASD + subADHD, 30 ASD + ADHD, 26 typically developing) underwent multimodal assessments including behavioral measures, laboratory-based EF tasks, and eye-tracking tests. Group comparisons and regression analyses were conducted to examine symptom gradients and EF-mediated functional relationships. Children in the ASD + subthreshold ADHD group showed significant social, functional and executive function impairments relative to their typically developing (TD) peers. The severity of social, functional, and executive function impairments in this group tended to be more pronounced than those in the ASD alone group, but milder than in the ASD + ADHD group. We also observed linear correlations between specific clinical features and executive function impairments in the ASD + subthreshold ADHD group. Subthreshold ADHD traits in ASD operate dimensionally, bridging diagnostic categories through shared EF mechanisms. These findings advocate revising ADHD comorbidity criteria for ASD populations by integrating symptom severity and functional impairment indices while prioritizing EF-targeted interventions for affected children, irrespective of formal ADHD diagnostic thresholds.

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26. Yoo GE, Lee EY, Lee E. Neural correlates of social motor coordination in autism: A systematic review and meta-analysis of fNIRS studies. Neurosci Biobehav Rev. 2025: 106347.

This study aimed to provide a comprehensive overview of how individuals with autism spectrum condition (ASC) process social motor coordination, focusing on joint action and its neural correlates, as examined through functional near-infrared spectroscopy (fNIRS) in comparing to their neurotypical (NT) counterparts. Eleven studies were analyzed, with nine included in the meta-analysis. The results identified the inferior parietal lobule (IPL) and superior temporal sulcus (STS) as significant moderators explaining group differences in cortical activation during joint action. Specifically, individuals with ASC showed increased IPL activation and reduced STS activation, indicating a greater reliance on kinematic processing and diminished engagement in encoding and integrating socially relevant information. Although the pooled effect size for inter-brain synchrony (IBS) was not statistically significant, descriptive analyses showed a trend toward reduced reciprocal processing in ASC, particularly in predicting and aligning with a partner’s mental states, as supported by decreased IBS in the temporoparietal junction (TPJ). Furthermore, a visual inspection of behavioral and neural outcomes by autism severity exhibited distinct tendencies. Individuals with mild symptoms demonstrated different neural-behavioral associations compared to those with moderate-to-severe symptoms, suggesting that symptom severity influences how neural processing supports joint action. These findings highlight the differential involvement of neural systems in joint actions among individuals with ASC depending on task type and autism severity, and emphasize the distinction between intra- and inter-personal processing. By integrating these findings, this study offers a more integrative perspective on social motor coordination in ASC as a complex, multi-dimensional process.

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27. Young H, Lahaye H, Guilé JM, Cravero C, Consoli A, Cohen D, Labelle R, Benarous X. Psychometric Properties of Measuring Tools for Depression in Autistic Youths: A Systematic Review. J Autism Dev Disord. 2025.

While autistic individuals are 4 times more likely to have depression compared to non-autistic individuals, depression remained largely undetected in this group resulting in significant unmet needs. A systematic literature review was conducted to determine the psychometric properties of measuring tools for depressive symptoms in autistic children and adolescents. The review followed the PRISMA 2020 guideline (PROSPERO: CRD42023423377) based on the search of several databases from 1980 until November 2024. The COnsensus-based Standards for the Selection of health status Measurement INstruments (COSMIN) checklist was used to assess for each tool: internal consistency, reliability, measurement error, content validity, structural validity, hypothesis testing, criterion validity, responsiveness to change and cross-cultural validity. The review found 15 empirical studies evaluating the properties of twelve measuring tools for depression in autistic youths. The validities of standards screening scales were low, but better for questionnaires with items focusing on behavioral aspects of depression, i.e., the Patient Health Questionnaire-9 (PHQ-9) and the Hospital Anxiety and Depression Scale (HADS). The evidence supporting the quality of the instrument was much better for those developed for subjects with neurodevelopmental divergences, such as The Evaluation of Depressive symptoms in Autism (EDA), with five domains of psychometric properties rated as strong or moderate. To determine the optimal approach for the use of consensual instruments, further research should include more individuals with co-occurring neurodevelopmental conditions, a risk factor for a more resistant form of depression, and examine the instruments’ capacity to detect clinically significant changes during an intervention.

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