Pubmed du 21/02/25
1. Altunel A, Muduroglu-Kirmizibekmez A, Onder A, Altunel O, Sever A, Kara I. Efficacy of ACTH therapy in children with Landau-Kleffner Syndrome and Autism Spectrum Disorder: A retrospective analysis. Epilepsy Behav. 2025; 165: 110308.
BACKGROUND: Landau-Kleffner Syndrome (LKS) and Autism Spectrum Disorder (ASD), both neurodevelopmental disorders, are frequently associated with epileptic seizures and characteristic epileptiform activity. Electrical Status Epilepticus during Sleep (ESES) is commonly observed in LKS, while Interictal Epileptiform Discharges (IEDs) are typical in ASD. Adrenocorticotropic hormone (ACTH) treatment has demonstrated the potential to reduce the indexes of these related discharges and the number of seizures. OBJECTIVE: This retrospective study aimed to assess the response to ACTH treatment in children diagnosed with LKS or ASD, both with and without epileptic seizures. METHODS: The study included 236 children, with separate analyses performed for those diagnosed with LKS or ASD. EEG recordings and treatment outcomes were retrospectively evaluated. Key assessments included changes in the indexes of ESES and IED, seizure control rates, and reported side effects. RESULTS: ACTH treatment led to significant improvements in indexes and seizure control in both LKS and ASD populations. In children with LKS and epileptic seizures, the mean ESES index reduction was 49.9 % (±17.7), with 50 % achieving complete seizure control. For children with ASD and epileptic seizures, the mean IED index reduction was 47.2 % (±16.7), with 41 % achieving complete seizure control. Rare side effects were transient and reversible, with no reports of serious adverse events. CONCLUSION: ACTH treatment demonstrates efficacy in reducing ESES and IED indexes and controlling seizures in children with LKS and ASD. These findings underscore the importance of early intervention and careful management of side effects in optimizing outcomes for these patient populations.
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2. Baransi N, Scharf M. Can a Short-Term Intervention Promote Growth Among Parents of Children with ASD?. J Autism Dev Disord. 2025.
The present study investigated the effects of a short-term synergic growth mindset intervention towards abilities and towards stress on reducing parental stress and promoting stress-related growth (SRG) among Arab parents of children diagnosed with Autistic Spectrum Disorder (ASD). One hundred and seven parents (70 mothers, 37 fathers) of male children with ASD, completed several questionnaires, including a demographic questionnaire; the Childhood Autism Rating Scale, the Parenting Stress Index-Short Form, the revised Stress- Related Growth Scale, The Implicit Self-Theories Scale, and the Stress Mindset Scale. Seventy- two parents were randomly assigned to an « intervention group », and 35 to a comparison group. Members of the intervention group participated in a short synergic growth mindset intervention, created especially for this research. Six months after the intervention, all participants re-completed the same questionnaires. The intervention significantly increased growth mindset and SRG and decreased parental stress. This study demonstrates the effectiveness of a short-term intervention in promoting growth mindsets, reducing parental stress, and fostering SRG among parents of children with a chronic disorder. These findings are particularly important since many parents of children with chronic disorders often exhibit fixed mindset patterns due to their children’s slow progress in various developmental domains.
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3. Bufo MR, Guidotti M, Lemaire M, Malvy J, Houy-Durand E, Bonnet-Brilhault F, Briend F, Aguillon-Hernandez N, Wardak C. Autonomic Disequilibrium at Rest in Autistic Children and Adults. Appl Psychophysiol Biofeedback. 2025.
Autism Spectrum Disorder (ASD) symptoms have been proposed to be linked to Autonomic Nervous System (ANS) atypical functioning, in particular sympathetic hyper-arousal and parasympathetic under-activation. The objective of this study was to characterize autonomic functioning at rest in autistic and neurotypical children and adults. To characterize several aspects of autonomic functioning, we recorded simultaneously pupil diameter, heart rate and electrodermal activity during 5 min of rest in 44 children (6-12 years old, 22 autistic) and 42 adults (19-52 years old, 21 autistic). Several parameters allowed to characterize tonic and phasic indices of sympathetic and parasympathetic systems at rest. Autistic children exhibited the expected pattern of parasympathetic under-activation at rest compared to their typically developing (TD) peers, and with a tendency for a higher phasic sympathetic activity. Adults exhibited a reverse autonomic pattern, with autistic individuals showing higher sympathetic tonus and lower sympathetic phasic activity than their TD peers. In conclusion, we observed an autonomic disequilibrium at rest both in autistic children and adults, but with opposite patterns that could reflect adaptive compensation mechanisms during maturation. This disequilibrium in autistic children would switch from excessive phasic components to excessive tonic components in adults, possibly subtended by an atypical locus coeruleus functioning.
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4. Garotti R, Marino M, Riccio MP, Cappuccio G, Maffettone V, Bravaccio C. Variability in autism spectrum phenotypes linked to heterozygous missense familial ANK2 mutation. Eur J Med Genet. 2025; 74: 105001.
Autism Spectrum Disorder (ASD) is to date considered a disorder with a complex aetiology that recognizes both genetic and environmental risk factors. The role of the genetic contribution is progressively and significantly increasing, and lately thousands of genes have been linked to ASD. In this clinical report we describe a child with ASD carrying a heterozygous novel missense variant p.Arg987Trp in the ANK2 gene in heterozygous state, predicted pathogenic, and inherited from her father. The ANK2 gene has been associated with ASD but to date just few reports described the related phenotypes thus we aim at expanding behaviours endophenotypes of familial ANK2-related condition. Our patient was diagnosed with high-functioning ASD while her father showed subthreshold autistic traits such as relational difficulties and peculiar interests. We present this familial case to study genotype-phenotype correlation and highlight the huge variability of Autism spectrum phenotypes of the ANK2-related conditions. Nevertheless, future studies that can explore more of the link between the genetics of autism and associated clinical expressivity would be interesting.
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5. Han C, Wu D, Tao FB, Gao H. [Sound and acoustic characteristics in children with autism spectrum disorders]. Zhonghua Er Ke Za Zhi. 2025; 63(3): 316-9.
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6. Hinde K, Hald GM, Hallford D, Lange T, Arendt M, Pavan S, Austin D. Interrater reliability of the DSM-5 and ICD-11 Criterion A for PTSD and complex PTSD in parents of children with autism using the Life Events Checklist. BJPsych Open. 2025; 11(2): e34.
BACKGROUND: Parents of children with autism demonstrate elevated traumatic stress symptoms, but seldom receive diagnoses of post-traumatic stress disorder (PTSD) or complex PTSD. An accurate assessment of Criterion A is essential for a valid diagnosis of these disorders, yet it is uncertain whether Criterion A, as defined by the two primary international diagnostic systems (DSM-5-TR and ICD-11), yields consistent interrater reliability, when psychologists rely solely on self-report from these parents for assessing PTSD or complex PTSD. AIMS: This study aims to investigate interrater reliability across psychologists when assessing Criterion A events against the ICD-11 and DSM-5-TR. METHOD: Ten Australian psychologists rated parents’ self-reported traumatic events related to parenting, using the Life Events Checklist for DSM-5-TR and ICD-11 Criterion A. Data from 200 randomly selected parents of children, all meeting symptom thresholds for PTSD or complex PTSD, were analysed. Bootstrapping calculated kappa coefficients, differences between ICD-11 and DSM-5-TR criteria, and self-reports of threat/no threat, with 95% confidence intervals for these differences. RESULTS: Interrater reliability varied from poor to moderate. The ICD-11 had significantly higher reliability than the DSM-5-TR for Criterion A (κ(difference) = 0.105, 95% CI 0.052-0.153, P < 0.001). The interrater reliability was lower when parents reported life threat, serious injury or death (κ(difference) = 0.096, 95% CI 0.019-0.176, P = 0.007). CONCLUSIONS: This study highlights challenges in assessing PTSD and complex PTSD Criterion A in parents of children with autism, using DSM-5-TR and ICD-11 criteria with the Life Events Checklist, revealing less than adequate interrater reliability.
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7. Hsu CW, Lin YW, Chen YB, Wang LJ, Kuo HC. Association of Kawasaki disease with intellectual disability, attention deficit hyperactivity disorder, and autism spectrum disorder: a systematic review and meta-analysis. Ital J Pediatr. 2025; 51(1): 52.
BACKGROUND: The relationship between Kawasaki disease (KD) and neurodevelopmental disorders (NDDs) remains unclear. This study aims to explore the association between them. METHOD: A systematic review was conducted using PubMed and Embase databases from inception to May 1, 2024 (INPLASY202450017). We included case-control or cohort studies comparing KD patients to healthy controls in assessing attention-deficit/hyperactivity disorder (ADHD), autism spectrum disorder (ASD), and intellectual disability (ID). The meta-analysis employed a random-effects model to calculate effect sizes using hazard ratios (HRs) with 95% confidence intervals (CIs) for the disease occurrence. Moreover, mean differences (MDs) were used to calculate intelligence quotient (IQ). RESULTS: Four eligible studies, including 1,454,499 participants, were analyzed for ADHD, ASD, and ID. The risk of ADHD in KD patients was higher than in healthy controls (HR[95%CI] = 1.76[1.21-2.57]). However, the risks of ASD (HR[95%CI] = 1.68[0.47-5.94]) and ID (HR[95%CI] = 1.39[0.52-2.63]) were not significantly different between KD and controls. Additionally, three studies with 365 participants were analyzed for IQ. IQ comparisons showed no significant differences in full IQ (MD[95%CI]=-0.01[-2.44-2.42]), verbal IQ (MD[95%CI]=-1.05[-4.42-2.33]), and performance IQ (MD[95%CI]=-0.08[-2.75-2.59]). CONCLUSION: This study indicates that individuals with KD have a higher risk for ADHD but not for ASD or ID. TRIAL REGISTRATION: INPLASY, INPLASY202450017. Registered 05 May 2024, https://inplasy.com/inplasy-2024-5-0017/ .
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8. Işık-Uslu AE, Çetin Z. Living with the delusion of autism recovery: A grounded theory study on the experiences of mothers. J Pediatr Nurs. 2025.
PURPOSE: This study employs Charmaz’s (2014) constructivist Grounded Theory (GT) approach to explore and construct a theory about the experiences of mothers raising children diagnosed with autism spectrum disorder (ASD). METHODS: Data were collected over 1.5 years from online forum posts written by 10 mothers and in-depth qualitative interviews conducted with nine mothers. During the theoretical sampling phase, an additional four mothers were interviewed face-to-face. The analysis adhered to Charmaz’s constructivist GT methodology, encompassing initial coding, focused coding, and theoretical coding. RESULTS: The study introduces the grounded theory, « Living with the Delusion of Autism Recovery, » which encapsulates mothers’ oscillation between hope and despair as they navigate their children’s developmental journeys. This longitudinal analysis traces mothers’ experiences from the pre-diagnosis phase through special education, addressing a significant gap in the literature by examining the progression of experiences rather than isolated moments. CONCLUSIONS: The findings underscore the urgent need for timely interventions and robust support systems. Delays in diagnosis, driven by healthcare professionals’ reluctance to diagnose early and the lack of a formal early intervention system, exacerbate developmental challenges. This research provides a unique contribution to the literature by centering on the experiences of Turkish mothers, shedding light on cultural nuances and the dynamic nature of parenting a child with ASD in Türkiye. It is notable as the first study of its kind in Türkiye, offering invaluable insights into the evolving experiences of these mothers.
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9. Khan NA, Shang X. A short investigation of the effect of the selection of human brain atlases on the performance of ASD’s classification models. Front Neurosci. 2025; 19: 1497881.
This study investigated the impact of brain atlas selection on the classification accuracy of Autism Spectrum Disorder (ASD) models using functional Magnetic Resonance Imaging (fMRI) data. Brain atlases, such as AAL, CC200, Harvard-Oxford, and Yeo 7/17, are used to define regions of interest (ROIs) for fMRI analysis and play a crucial role in enabling researchers to study connectivity patterns and neural dynamics in ASD patients. Through a systematic review, we examined the performance of different atlases in various machine-learning and deep-learning frameworks for ASD classification. The results reveal that atlas selection significantly affects classification accuracy, with denser atlases, such as CC400, providing higher granularity, whereas coarser atlases such as AAL, offer computational efficiency. Furthermore, we discuss the dynamics of combining multiple atlases to enhance feature extraction and explore the implications of atlas selection across diverse datasets. Our findings emphasize the need for standardized approaches to atlas selection and highlight future research directions, including the integration of novel atlases, advanced data augmentation techniques, and end-to-end deep-learning models. This study provides valuable insights into optimizing fMRI-based ASD diagnosis and underscores the importance of interpreting atlas-specific features for an improved understanding of brain connectivity in ASD.
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10. Lozano I, Viktorsson C, Capelli E, Gliga T, Riva V, Tomalski P. Early selective attention to the articulating mouth as a potential female-specific marker of better language development in autism: a review. Front Psychol. 2025; 16: 1501688.
Autism is a neurodevelopmental condition with early onset, usually entailing language differences compared to neurotypical peers. Females are four times less likely than males to be diagnosed with autism, and the language features associated with this condition are less frequent in females than in males. However, the developmental mechanisms underlying these sex differences remain unclear. In neurotypical populations, sex differences in language development are also observable from early on, with females outperforming males. One mechanism underlying these sex differences may be early differences in selective attention to talking faces. During the first year, more mouth-looking generally predicts better language development, but sex differences exist. Female infants look at the mouth of a talking face more than males without penalizing looking to the eyes, and reduced mouth-looking in early infancy relates to better vocabulary in toddlerhood only in females. In this hypothesis and theory article, we propose that unique female gaze patterns to the mouth may constitute an early female-specific candidate marker that acts as a protective marker for language development also in autism. Since autism is highly heritable, investigating infants at elevated likelihood for autism offers the opportunity to search for sex-specific markers operating early in life before autistic features and language differences emerge. We argue that, as in neurotypical female infants, mouth-looking may also protect female infants-at-elevated-likelihood-for-autism population from potential later differences in language skills. If so, then sex-specific early behavioral markers, potentially acting as protective markers of language, may compensate for some genetic risk markers affecting this population. Here we gather evidence from neurotypical infants and those with elevated likelihood of autism to uncover why biological sex, the development of selective attention to the mouth, and language acquisition could be intimately related in both populations. We also propose hypotheses regarding potential sex-differentiated neurodevelopmental pathways. We end discussing future research challenges: how generalizable mouth-looking could be as a potential female-specific early language marker across contexts (experimental vs. real life), countries, and developmental time. Ultimately, we aim to target a novel protective candidate of language acquisition, informing tailored interventions that consider sex as an important source of individual variability.
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11. Nygren G, Gillberg C, Carlsson E. Bridging gaps in healthcare: child health services and specialist care collaboration for young children with autism and coexisting conditions. Front Pediatr. 2025; 13: 1501650.
AIM: This study aimed to evaluate a clinical project aiming to address gaps in healthcare for young children in an immigrant, low-resource district from early identification of regulatory problems, autism, and other neurodevelopmental symptoms by child health services to assessment and interventions in specialist care. METHODS: A mixed-model design was employed, consisting of a description of the clinical project and data from healthcare statistics to evaluating the care chain. Qualitative in-depth interviews were conducted to capture the perspectives of participating child health nurses. Data were analyzed using content analysis. RESULTS: The mean age for referral from primary to specialist care for suspected autism decreased from 38 to 27 months at (n = 59). A total of 55 children were diagnosed with autism. The mean age at autism diagnosis decreased from 44 to 31 months. Waiting times from referral to intervention were shortened. Interventions were already initiated in primary care at the time of referral. Qualitative analyses of nurse experiences revealed three main categories: (1) new and increased knowledge, (2) great importance for every child and family, and (3) an efficient method with fewer gaps, which holds further potential for development. CONCLUSION: Professionals’ increased knowledge of early symptoms in children, combined with novel healthcare methods for close collaboration, made it possible to bridge the gaps and provide young children and their families with early assessments and essential early interventions. The study results point to opportunities for integrated healthcare and collaboration with families and preschools.
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12. Rezvanfard M, Khaleghi A, Ghaderi A, Noroozian M, Aghamollaii V, Tehranidust M. Comparison of Quantitative-Electroencephalogram (q-EEG) Measurements Between Patients of Dementia with Lewy Bodies (DLB) and Parkinson Disease Dementia (PDD). Clin EEG Neurosci. 2025: 15500594251319863.
Dementia with Lewy bodies (DLB) and Parkinson’s disease dementia (PDD) are synucleinopathy syndromes with similar symptom profiles that are distinguished clinically based on the arbitrary rule of the time of symptom onset. Identifying reliable electroencephalographic (EEG) biomarkers would provide a precise method for better diagnosis, treatment, and monitoring of treatment response in these two types of dementia. From April 2015 to March 2021, the records of new referrals to a neurology clinic were retrospectively reviewed and 28 DLB(70.3% male) and 20 PDD (80.8% male) patients with appropriate EEG were selected for this study. Artifact-free 60-s EEG signals (21 channels) at rest with eyes closed were analyzed using EEGLAB, and regional spectral power ratios were extracted. Marked diffuse slowing was found in DLB patients compared to PDD patients in all regions in terms of decrease in alpha and increase in theta band. Although, these findings demean between groups after adjusting for MMSE scores, the significant difference still remained in terms of the mean relative alpha powers, particularly in the anterior and central regions. QEEG measures may have the potential to discriminate between these two syndromes. However, further prospective and longitudinal studies are required to improve the early differentiation of these dementia syndromes and to elucidate the underlying causes and pathogenesis and specific treatment.
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13. van der Lubbe A, Swaab H, Vermeiren R, van Rossum EFC, van Balkom IDC, Ester WA. Chronic Parenting Stress in Parents of Children with Autism: Associations with Chronic Stress in Their Child and Parental Mental and Physical Health. J Autism Dev Disord. 2025.
Parents of children with ASD often demonstrate high levels of stress and associated health problems. A gap in knowledge exists regarding the associations between chronic stress and mental and physical health of parents of young children with ASD, in which fathers have been understudied. In 181 parents (98 mothers, 83 fathers) of 99 young children with ASD chronic stress was measured using parental self-report and hair cortisol concentration (HCC) analysis. Parental mental health and eating behavior was measured using questionnaires. Physical health was evaluated by Body Mass Index, waist circumference, blood pressure, cholesterol, triglycerides, and glucose.. Parental HCC was related with child HCC (r(mothers) = 0.51, p <.01; r(fathers) = 0.40, p <.01). Maternal HCC was associated with lower reported parenting stress (r = -.33, p <.01). Parental mental health problems and reported parenting stress were strongly related (r =.55-0.61, p <.01). Mental health problems were twice as frequent as in the norm-population (41.1-45.8% versus 20%). In both parents, reported parenting stress was associated with emotional eating behavior. HCC was associated with higher glucose levels in mothers. There were no associations between chronic stress and the other physical health measures in mothers and fathers. Parents of young children with ASD are at high risk for chronic stress, with impact for their mental and physical health. Additionally, chronic stress of parents, cannot be perceived isolated from the stress in their children with ASD. We encourage future research to investigate whether these correlations are generalizable to the whole ASD population.
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14. Xing Y, Huang S, Zhao Y, Wu X. Effects of group sports activities on physical activity and social interaction abilities of children with autism spectrum disorders. Front Psychol. 2024; 15: 1496660.
INTRODUCTION: Group sports activities have been demonstrated to have an impact on the physical activity and social interaction abilities of children with autism spectrum disorder (ASD). METHODS: Thus, this work, taking different types of group sports as the primary variable, explored the impact of 12-week group sports activities on the physical activity and social interaction abilities of children with ASD. A quasi-experimental design was used to divide 21 children with ASD into Experimental group (N = 11) and Control group 1 (N = 10), while healthy children of the same age were selected as Control group 2 (N = 12). The experimental group performed group sports activities for 60 min/time, 4 times/week, for a total of 12 weeks, while the control group maintained the traditional sports activities of Peizhi School. Physical activity was monitored using a three-axis accelerometer (Model: ActiGraph GT3X+), and social interaction ability was measured using the playground observation of peer engagement (POPE) observation scale to evaluate the social interaction states of children in the experimental group after the physical activities. RESULTS AND DISCUSSION: After the intervention, the sitting time of children in the experimental group was significantly reduced (t = -12.735, p < 0.001, Cohen d = 2.75), and the time of moderate and high-intensity physical activity was significantly increased (t = -8.79, p < 0.001, Cohen d = 1.82). In social interaction ability, the duration of loneliness was significantly reduced (t = -2.567, p < 0.017, Cohen d = 0.57), and the duration of joint participation (t = -3.009, p < 0.007, Cohen d = 0.02) and the regular game (t = -2.511, p < 0.026, Cohen d = 0.46) were significantly increased, respectively. 4 weeks after the intervention, the sedentary behavior and loneliness of the experimental group both continued to decrease. Group physical activities can improve the physical activity levels and social interaction skills of children with ASD and have a good effect on the maintenance.
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15. Zhan B, Chen Y, Wang R, Jiang Y. Prolonged visual perceptual changes induced by short-term dyadic training: The roles of confidence and autistic traits in social learning. iScience. 2025; 28(2): 111716.
As social creatures, we are naturally swayed by the opinions of others, which largely shape our attitudes and preferences. However, whether social influence can directly impact our visual perceptual experience remains debated. We designed a two-phase dyadic training paradigm where participants first made a visual categorization judgment and then were informed of an alleged social partner’s choice on the same stimulus. Results demonstrated that social influence significantly modified participants’ subsequent visual categorizations, even when they had been well-trained prior to the dyadic training. This effect persisted for an extended period of up to six weeks. Diffusion model analysis revealed that this effect stemmed from perceptual processing more than mere response bias, and its strength was inversely related to the participants’ confidence and autistic-like tendencies. These findings offer compelling evidence that our perceptual experiences are deeply influenced by social factors, with individual confidence and personality traits playing significant roles.